Difference between revisions of "Sand Box"

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* '''[[Jabs syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/304/blau-syndrome Blau syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/13455/jackhammer-esophagus Jackhammer esophagus]
 
* '''[[Jackson Barr syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/305/deafness-conductive-ptosis-skeletal-anomalies Deafness conductive ptosis skeletal anomalies]
 
* '''[https://rarediseases.info.nih.gov/diseases/6796/jackson-weiss-syndrome Jackson-Weiss syndrome]
 
* '''[[Jacobs syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5674/47-xyy-syndrome 47, XYY syndrome]
 
* '''[[Jacobs syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/306/camptodactyly-arthropathy-coxa-vara-pericarditis-syndrome Camptodactyly arthropathy coxa vara pericarditis syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/307/jacobsen-syndrome Jacobsen syndrome]
 
* '''[[Jadassohn nevus phakomatosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10291/linear-nevus-sebaceous-syndrome Linear nevus sebaceous syndrome]
 
* '''[[Jadassohn-Tièche nevus]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8452/tieche-jadassohn-nevus Tièche-Jadassohn nevus]
 
* '''[[Jadassohn-Tièche syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8452/tieche-jadassohn-nevus Tièche-Jadassohn nevus]
 
* '''[[JAE]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2162/epilepsy-juvenile-absence Epilepsy juvenile absence]
 
* '''[[Jaeken syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9826/pmm2-cdg-cdg-ia PMM2-CDG (CDG-Ia)]
 
* '''[[Jaffe Campanacci syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/309/fibromatosis-multiple-non-ossifying Fibromatosis multiple non ossifying]
 
* '''[[Jaffe-Campanacci syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10887/osteofibrous-dysplasia Osteofibrous dysplasia]
 
* '''[https://rarediseases.info.nih.gov/diseases/3040/jaffer-beighton-syndrome Jaffer Beighton syndrome]
 
* '''[[Jagell Holmgren Hofer syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/292/ichthyosis-alopecia-eclabion-ectropion-mental-retardation Ichthyosis alopecia eclabion ectropion mental retardation]
 
* '''[[Jail fever]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7833/typhus Typhus]
 
* '''[[Jalili syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1463/cone-rod-dystrophy-amelogenesis-imperfecta Cone-rod dystrophy amelogenesis imperfecta]
 
* '''[[JALS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/11901/juvenile-amyotrophic-lateral-sclerosis Juvenile amyotrophic lateral sclerosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/9299/jamaican-vomiting-sickness Jamaican vomiting sickness]
 
* '''[[Jancar syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3523/intellectual-disability-spasticity-ectrodactyly-syndrome Intellectual disability-spasticity-ectrodactyly syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3044/jankovic-rivera-syndrome Jankovic Rivera syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/79/jansen-type-metaphyseal-chondrodysplasia Jansen type metaphyseal chondrodysplasia]
 
* '''[[Jansky-Bielschowsky disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3045/neuronal-ceroid-lipofuscinosis-2 Neuronal ceroid lipofuscinosis 2]
 
* '''[[Janz syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6808/juvenile-myoclonic-epilepsy Juvenile myoclonic epilepsy]
 
* '''[https://rarediseases.info.nih.gov/diseases/6797/japanese-encephalitis Japanese encephalitis]
 
* '''[[Japanese type spondylometaphyseal dysplasia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/504/spondylometaphyseal-dysplasia-algerian-type Spondylometaphyseal dysplasia Algerian type]
 
* '''[[Jarcho-Levin syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6798/spondylothoracic-dysostosis Spondylothoracic dysostosis]
 
* '''[[JATD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3049/jeune-syndrome Jeune syndrome]
 
* '''[[Jaw-winking]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6972/marcus-gunn-phenomenon Marcus Gunn phenomenon]
 
* '''[[JBS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/307/jacobsen-syndrome Jacobsen syndrome]
 
* '''[[JBS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/80/johanson-blizzard-syndrome Johanson-Blizzard syndrome]
 
* '''[[JBTS1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6802/joubert-syndrome Joubert syndrome]
 
* '''[[JBTS2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10167/joubert-syndrome-2 Joubert syndrome 2]
 
* '''[[JBTS3]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10168/joubert-syndrome-with-ocular-anomalies Joubert syndrome with ocular anomalies]
 
* '''[[JBTS4]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10169/joubert-syndrome-with-renal-anomalies Joubert syndrome with renal anomalies]
 
* '''[[JDM]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6805/juvenile-dermatomyositis Juvenile dermatomyositis]
 
* '''[[JE]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6797/japanese-encephalitis Japanese encephalitis]
 
* '''[[JEB]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2152/junctional-epidermolysis-bullosa Junctional epidermolysis bullosa]
 
* '''[[JEB generalized intermediate]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa Epidermolysis bullosa]
 
* '''[[JEB, generalized intermediate]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2152/junctional-epidermolysis-bullosa Junctional epidermolysis bullosa]
 
* '''[[JEB-H]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa Epidermolysis bullosa]
 
* '''[[JEB-Herlitz type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa Epidermolysis bullosa]
 
* '''[[JEB-I]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa Epidermolysis bullosa]
 
* '''[[JEB-lo]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2152/junctional-epidermolysis-bullosa Junctional epidermolysis bullosa]
 
* '''[[JEB-nH]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa Epidermolysis bullosa]
 
* '''[[JEB-nH gen]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2152/junctional-epidermolysis-bullosa Junctional epidermolysis bullosa]
 
* '''[[JEB-nH loc]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2152/junctional-epidermolysis-bullosa Junctional epidermolysis bullosa]
 
* '''[[JEB-PA]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa Epidermolysis bullosa]
 
* '''[https://rarediseases.info.nih.gov/diseases/6799/jejunal-atresia Jejunal atresia]
 
* '''[https://rarediseases.info.nih.gov/diseases/9985/jejunal-atresia-with-renal-adysplasia Jejunal atresia with renal adysplasia]
 
* '''[[Jejunoileal atresia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6799/jejunal-atresia Jejunal atresia]
 
* '''[[JEN-nH]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa Epidermolysis bullosa]
 
* '''[[Jequier Kozlowski skeletal dysplasia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3047/spondylometaphyseal-dysplasia-kozlowski-type Spondylometaphyseal dysplasia, Kozlowski type]
 
* '''[[Jequier-Kozlowski syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3047/spondylometaphyseal-dysplasia-kozlowski-type Spondylometaphyseal dysplasia, Kozlowski type]
 
* '''[https://rarediseases.info.nih.gov/diseases/10364/jervell-and-lange-nielsen-syndrome-2 Jervell and Lange-Nielsen syndrome 2]
 
* '''[https://rarediseases.info.nih.gov/diseases/3048/jervell-lange-nielsen-syndrome Jervell Lange-Nielsen syndrome]
 
* '''[[Jessner disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6940/lymphocytic-infiltrate-of-jessner Lymphocytic infiltrate of Jessner]
 
* '''[[Jessner-Kanof syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6940/lymphocytic-infiltrate-of-jessner Lymphocytic infiltrate of Jessner]
 
* '''[[Jeune asphyxiating thoracic dystrophy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3049/jeune-syndrome Jeune syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3049/jeune-syndrome Jeune syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/303/jeune-syndrome-situs-inversus Jeune syndrome situs inversus]
 
* '''[[Jeune's syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3049/jeune-syndrome Jeune syndrome]
 
* '''[[JGCA]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3068/juvenile-temporal-arteritis Juvenile temporal arteritis]
 
* '''[[JHD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10510/juvenile-huntington-disease Juvenile Huntington disease]
 
* '''[[JHS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3060/juberg-hayward-syndrome Juberg-Hayward syndrome]
 
* '''[[JIP]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3065/juvenile-polyposis-syndrome Juvenile polyposis syndrome]
 
* '''[[JLNS1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3048/jervell-lange-nielsen-syndrome Jervell Lange-Nielsen syndrome]
 
* '''[[JLNS2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10364/jervell-and-lange-nielsen-syndrome-2 Jervell and Lange-Nielsen syndrome 2]
 
* '''[[JME]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6808/juvenile-myoclonic-epilepsy Juvenile myoclonic epilepsy]
 
* '''[[JMML]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9884/juvenile-myelomonocytic-leukemia Juvenile myelomonocytic leukemia]
 
* '''[https://rarediseases.info.nih.gov/diseases/10988/jmp-syndrome JMP syndrome]
 
* '''[[JMS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/81/juberg-marsidi-syndrome Juberg Marsidi syndrome]
 
* '''[[JNP]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10291/linear-nevus-sebaceous-syndrome Linear nevus sebaceous syndrome]
 
* '''[[JOAG1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9485/primary-open-angle-glaucoma-juvenile-onset-1 Primary open angle glaucoma juvenile onset 1]
 
* '''[[Job syndrome autosomal dominant]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6800/autosomal-dominant-hyper-ige-syndrome Autosomal dominant hyper IgE syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/80/johanson-blizzard-syndrome Johanson-Blizzard syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3051/johnson-munson-syndrome Johnson Munson syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/378/johnson-neuroectodermal-syndrome Johnson neuroectodermal syndrome]
 
* '''[[Johnson-Mcmillin syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/378/johnson-neuroectodermal-syndrome Johnson neuroectodermal syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3053/johnston-aarons-schelley-syndrome Johnston Aarons Schelley syndrome]
 
* '''[[Joint contractures - muscle atrophy - microcytic anemia - panniculitis-induced lipodystrophy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10988/jmp-syndrome JMP syndrome]
 
* '''[[Joint contractures with other abnormalities]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5642/hydrocephalus-cleft-palate-joint-contractures-syndrome Hydrocephalus-cleft palate-joint contractures syndrome]
 
* '''[[Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3053/johnston-aarons-schelley-syndrome Johnston Aarons Schelley syndrome]
 
* '''[[Joint instability syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3054/familial-joint-instability-syndrome Familial joint instability syndrome]
 
* '''[[Joint laxity, Familial]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3054/familial-joint-instability-syndrome Familial joint instability syndrome]
 
* '''[[Joint replacement infection]]'''
 
See [https://rarediseases.info.nih.gov/diseases/11977/prosthetic-joint-infection Prosthetic joint infection]
 
* '''[https://rarediseases.info.nih.gov/diseases/3055/jones-hersh-yusk-syndrome Jones Hersh Yusk syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3056/jones-syndrome Jones syndrome]
 
* '''[[Jonston's Alopecia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5782/alopecia-areata Alopecia areata] ''- not a rare disease''
 
* '''[https://rarediseases.info.nih.gov/diseases/3057/jorgenson-lenz-syndrome Jorgenson Lenz syndrome]
 
* '''[[JORRP (type)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/111/recurrent-respiratory-papillomatosis Recurrent respiratory papillomatosis]
 
* '''[[JOSeFINE]]'''
 
See [https://rarediseases.info.nih.gov/diseases/11928/juvenile-onset-small-fiber-polyneuropathy Juvenile-onset small-fiber polyneuropathy]
 
* '''[https://rarediseases.info.nih.gov/diseases/6802/joubert-syndrome Joubert syndrome]
 
* '''[[Joubert syndrome 1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6802/joubert-syndrome Joubert syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/10167/joubert-syndrome-2 Joubert syndrome 2]
 
* '''[[Joubert syndrome 3]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10168/joubert-syndrome-with-ocular-anomalies Joubert syndrome with ocular anomalies]
 
* '''[[Joubert syndrome 4]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10169/joubert-syndrome-with-renal-anomalies Joubert syndrome with renal anomalies]
 
* '''[[Joubert syndrome 5]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9455/joubert-syndrome-with-oculorenal-anomalies Joubert syndrome with oculorenal anomalies]
 
* '''[[Joubert syndrome with bilateral chorioretinal coloboma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9455/joubert-syndrome-with-oculorenal-anomalies Joubert syndrome with oculorenal anomalies]
 
* '''[[Joubert syndrome with congenital hepatic fibrosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1410/coach-syndrome COACH syndrome]
 
* '''[[Joubert syndrome with hepatic defect]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1410/coach-syndrome COACH syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/10168/joubert-syndrome-with-ocular-anomalies Joubert syndrome with ocular anomalies]
 
* '''[https://rarediseases.info.nih.gov/diseases/9455/joubert-syndrome-with-oculorenal-anomalies Joubert syndrome with oculorenal anomalies]
 
* '''[[Joubert syndrome with oculorenal defect]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9455/joubert-syndrome-with-oculorenal-anomalies Joubert syndrome with oculorenal anomalies]
 
* '''[[Joubert syndrome with orofaciodigital defect]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4412/orofaciodigital-syndrome-6 Orofaciodigital syndrome 6]
 
* '''[https://rarediseases.info.nih.gov/diseases/10169/joubert-syndrome-with-renal-anomalies Joubert syndrome with renal anomalies]
 
* '''[[Joubert syndrome with Senior-Loken syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9455/joubert-syndrome-with-oculorenal-anomalies Joubert syndrome with oculorenal anomalies]
 
* '''[[Joubert-Boltshauser syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6802/joubert-syndrome Joubert syndrome]
 
* '''[[JP]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9642/autosomal-recessive-juvenile-parkinson-disease Autosomal recessive juvenile Parkinson disease]
 
* '''[[JPD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2831/juvenile-paget-disease Juvenile Paget disease]
 
* '''[[JPG]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2831/juvenile-paget-disease Juvenile Paget disease]
 
* '''[[JPLS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4485/juvenile-primary-lateral-sclerosis Juvenile primary lateral sclerosis]
 
* '''[[JPM]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6805/juvenile-dermatomyositis Juvenile dermatomyositis]
 
* '''[[JPMR]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3068/juvenile-temporal-arteritis Juvenile temporal arteritis]
 
* '''[[JPS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3065/juvenile-polyposis-syndrome Juvenile polyposis syndrome]
 
* '''[[JS type B]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9455/joubert-syndrome-with-oculorenal-anomalies Joubert syndrome with oculorenal anomalies]
 
* '''[[JS-H]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1410/coach-syndrome COACH syndrome]
 
* '''[[JS-OR]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9455/joubert-syndrome-with-oculorenal-anomalies Joubert syndrome with oculorenal anomalies]
 
* '''[https://rarediseases.info.nih.gov/diseases/81/juberg-marsidi-syndrome Juberg Marsidi syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3060/juberg-hayward-syndrome Juberg-Hayward syndrome]
 
* '''[[Juberg-Hellman syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10806/pcdh19-related-female-limited-epilepsy PCDH19-related female-limited epilepsy]
 
* '''[[Juberg-Marsidi Intellectual disability syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/81/juberg-marsidi-syndrome Juberg Marsidi syndrome]
 
* '''[[Juberg-Marsidi syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/81/juberg-marsidi-syndrome Juberg Marsidi syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3061/judge-misch-wright-syndrome Judge Misch Wright syndrome]
 
* '''[[Jugular lymphatic obstruction sequence]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2786/hygroma-cervical Hygroma cervical]
 
* '''[https://rarediseases.info.nih.gov/diseases/6803/jumping-frenchmen-of-maine Jumping Frenchmen of Maine]
 
* '''[https://rarediseases.info.nih.gov/diseases/2152/junctional-epidermolysis-bullosa Junctional epidermolysis bullosa]
 
* '''[[Junctional epidermolysis bullosa - pyloric atresia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa Epidermolysis bullosa]
 
* '''[[Junctional epidermolysis bullosa generalisata gravis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa Epidermolysis bullosa]
 
* '''[[Junctional epidermolysis bullosa generalisata mitis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2152/junctional-epidermolysis-bullosa Junctional epidermolysis bullosa]
 
* '''[[Junctional epidermolysis bullosa generalized intermediate]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa Epidermolysis bullosa]
 
* '''[[Junctional epidermolysis bullosa inversa]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa Epidermolysis bullosa]
 
* '''[[Junctional epidermolysis bullosa with pyloric atresia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa Epidermolysis bullosa]
 
* '''[[Junctional epidermolysis bullosa, Disentis type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2152/junctional-epidermolysis-bullosa Junctional epidermolysis bullosa]
 
* '''[[Junctional epidermolysis bullosa, generalized intermediate]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2152/junctional-epidermolysis-bullosa Junctional epidermolysis bullosa]
 
* '''[[Junctional epidermolysis bullosa, Herlitz type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa Epidermolysis bullosa]
 
* '''[[Junctional epidermolysis bullosa, non-Herlitz type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa Epidermolysis bullosa]
 
* '''[https://rarediseases.info.nih.gov/diseases/3062/jung-wolff-back-stahl-syndrome Jung Wolff Back Stahl syndrome]
 
* '''[[Juvenile absence epilepsy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2162/epilepsy-juvenile-absence Epilepsy juvenile absence]
 
* '''[https://rarediseases.info.nih.gov/diseases/11901/juvenile-amyotrophic-lateral-sclerosis Juvenile amyotrophic lateral sclerosis]
 
* '''[[Juvenile arthritis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3067/juvenile-idiopathic-arthritis Juvenile idiopathic arthritis] ''- not a rare disease''
 
* '''[[Juvenile breast cancer (formerly)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9408/secretory-breast-carcinoma Secretory breast carcinoma]
 
* '''[[Juvenile breast carcinoma (formerly)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9408/secretory-breast-carcinoma Secretory breast carcinoma]
 
* '''[[Juvenile cataract, cerebellar atrophy, mental retardation, and myopathy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8745/marinesco-sjogren-like-syndrome-msls Marinesco-Sjogren-like syndrome (MSLS)]
 
* '''[[Juvenile Charcot disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/11901/juvenile-amyotrophic-lateral-sclerosis Juvenile amyotrophic lateral sclerosis]
 
* '''[[Juvenile chronic arthritis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3067/juvenile-idiopathic-arthritis Juvenile idiopathic arthritis] ''- not a rare disease''
 
* '''[[Juvenile cranial arteritis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3068/juvenile-temporal-arteritis Juvenile temporal arteritis]
 
* '''[https://rarediseases.info.nih.gov/diseases/6805/juvenile-dermatomyositis Juvenile dermatomyositis]
 
* '''[[Juvenile enthesitis-related arthritis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10969/enthesitis-related-juvenile-idiopathic-arthritis Enthesitis-related juvenile idiopathic arthritis]
 
* '''[[Juvenile giant cell arteritis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3068/juvenile-temporal-arteritis Juvenile temporal arteritis]
 
* '''[[Juvenile gigantomastia (subtype)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9450/gigantomastia Gigantomastia]
 
* '''[[Juvenile glaucoma with unusual upper lip and dental roots]]'''
 
See [https://rarediseases.info.nih.gov/diseases/469/pyramidal-molars-abnormal-upper-lip-syndrome Pyramidal molars-abnormal upper lip syndrome]
 
* '''[[Juvenile hemochromatosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10092/hemochromatosis-type-2 Hemochromatosis type 2]
 
* '''[[Juvenile hereditary epithelial dystrophy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9688/meesmann-corneal-dystrophy Meesmann corneal dystrophy]
 
* '''[[Juvenile hereditary hemochromatosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10092/hemochromatosis-type-2 Hemochromatosis type 2]
 
* '''[https://rarediseases.info.nih.gov/diseases/10510/juvenile-huntington-disease Juvenile Huntington disease]
 
* '''[[Juvenile hyaline fibromatosis (former subtype)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6807/hyaline-fibromatosis-syndrome Hyaline fibromatosis syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3067/juvenile-idiopathic-arthritis Juvenile idiopathic arthritis] ''- not a rare disease''
 
* '''[[Juvenile intestinal polyposis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3065/juvenile-polyposis-syndrome Juvenile polyposis syndrome]
 
* '''[[Juvenile kyphosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7610/scheuermann-disease Scheuermann disease]
 
* '''[[Juvenile laryngeal papilloma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/111/recurrent-respiratory-papillomatosis Recurrent respiratory papillomatosis]
 
* '''[[Juvenile laryngeal papillomatosis (subtype)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6864/laryngeal-papillomatosis Laryngeal papillomatosis]
 
* '''[[Juvenile Lou Gehrig disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/11901/juvenile-amyotrophic-lateral-sclerosis Juvenile amyotrophic lateral sclerosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/3066/juvenile-macular-degeneration-and-hypotrichosis Juvenile macular degeneration and hypotrichosis]
 
* '''[[Juvenile macular dystrophy and congenital hypotrichosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3066/juvenile-macular-degeneration-and-hypotrichosis Juvenile macular degeneration and hypotrichosis]
 
* '''[[Juvenile muscular atrophy of distal upper extremity (JMADUE)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9697/monomelic-amyotrophy Monomelic amyotrophy]
 
* '''[[Juvenile muscular atrophy of distal upper limb]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9697/monomelic-amyotrophy Monomelic amyotrophy]
 
* '''[https://rarediseases.info.nih.gov/diseases/9884/juvenile-myelomonocytic-leukemia Juvenile myelomonocytic leukemia]
 
* '''[https://rarediseases.info.nih.gov/diseases/6808/juvenile-myoclonic-epilepsy Juvenile myoclonic epilepsy]
 
* '''[[Juvenile myositis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6805/juvenile-dermatomyositis Juvenile dermatomyositis]
 
* '''[[Juvenile nephronophthisis with Leber amaurosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/322/senior-loken-syndrome Senior Loken Syndrome]
 
* '''[[Juvenile neuronal ceroid lipofuscinosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5897/neuronal-ceroid-lipofuscinosis-3 Neuronal ceroid lipofuscinosis 3]
 
* '''[[Juvenile onset HD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10510/juvenile-huntington-disease Juvenile Huntington disease]
 
* '''[[Juvenile onset macular degeneration]]'''
 
See [https://rarediseases.info.nih.gov/diseases/181/stargardt-disease Stargardt disease]
 
* '''[[Juvenile onset pernicious anemia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12671/pernicious-anemia Pernicious anemia] ''- not a rare disease''
 
* '''[https://rarediseases.info.nih.gov/diseases/12792/juvenile-ossifying-fibroma Juvenile ossifying fibroma]
 
* '''[https://rarediseases.info.nih.gov/diseases/6760/juvenile-osteoporosis Juvenile osteoporosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/2831/juvenile-paget-disease Juvenile Paget disease]
 
* '''[[Juvenile Pagets disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2831/juvenile-paget-disease Juvenile Paget disease]
 
* '''[[Juvenile parkinsonism]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9642/autosomal-recessive-juvenile-parkinson-disease Autosomal recessive juvenile Parkinson disease]
 
* '''[[Juvenile pilocytic astrocytoma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9808/pilocytic-astrocytoma Pilocytic astrocytoma]
 
* '''[[Juvenile PM]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12742/juvenile-polymyositis Juvenile polymyositis]
 
* '''[[Juvenile polyarthritis rheumatoid factor negative]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10967/polyarticular-onset-juvenile-idiopathic-arthritis Polyarticular onset juvenile idiopathic arthritis]
 
* '''[[Juvenile polyarthritis rheumatoid factor positive]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10967/polyarticular-onset-juvenile-idiopathic-arthritis Polyarticular onset juvenile idiopathic arthritis]
 
* '''[[Juvenile polymyalgia rheumatica]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3068/juvenile-temporal-arteritis Juvenile temporal arteritis]
 
* '''[https://rarediseases.info.nih.gov/diseases/12742/juvenile-polymyositis Juvenile polymyositis]
 
* '''[https://rarediseases.info.nih.gov/diseases/3065/juvenile-polyposis-syndrome Juvenile polyposis syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/4485/juvenile-primary-lateral-sclerosis Juvenile primary lateral sclerosis]
 
* '''[[Juvenile psoriatic arthritis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10970/psoriatic-juvenile-idiopathic-arthritis Psoriatic juvenile idiopathic arthritis]
 
* '''[https://rarediseases.info.nih.gov/diseases/4690/juvenile-retinoschisis Juvenile retinoschisis]
 
* '''[[Juvenile rheumatoid arthritis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3067/juvenile-idiopathic-arthritis Juvenile idiopathic arthritis] ''- not a rare disease''
 
* '''[[Juvenile spondylarthropathy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10969/enthesitis-related-juvenile-idiopathic-arthritis Enthesitis-related juvenile idiopathic arthritis]
 
* '''[https://rarediseases.info.nih.gov/diseases/12939/juvenile-spondyloarthropathy Juvenile spondyloarthropathy]
 
* '''[[Juvenile sulfatidosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5061/multiple-sulfatase-deficiency Multiple sulfatase deficiency]
 
* '''[https://rarediseases.info.nih.gov/diseases/3068/juvenile-temporal-arteritis Juvenile temporal arteritis]
 
* '''[[Juvenile-onset diabetes]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10268/diabetes-mellitus-type-1 Diabetes mellitus type 1] ''- not a rare disease''
 
* '''[https://rarediseases.info.nih.gov/diseases/9818/juvenile-onset-dystonia Juvenile-onset dystonia]
 
* '''[[Juvenile-onset recurrent respiratory papillomatosis (type)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/111/recurrent-respiratory-papillomatosis Recurrent respiratory papillomatosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/11928/juvenile-onset-small-fiber-polyneuropathy Juvenile-onset small-fiber polyneuropathy]
 
* '''[[Juvenile-onset vitelliform macular dystrophy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/182/best-vitelliform-macular-dystrophy Best vitelliform macular dystrophy]
 
* '''[[Juxtafoveal retinal telangiectasia type 2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10690/macular-telangiectasia-type-2 Macular telangiectasia type 2] ''- not a rare disease''
 
* '''[[JWS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6796/jackson-weiss-syndrome Jackson-Weiss syndrome]
 
* '''[[Kabuki make up syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6810/kabuki-syndrome Kabuki syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/6810/kabuki-syndrome Kabuki syndrome]
 
* '''[[Kaeser syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10312/scapuloperoneal-syndrome-neurogenic-kaeser-type Scapuloperoneal syndrome, neurogenic, Kaeser type]
 
* '''[[Kagami-Ogata syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5409/paternal-uniparental-disomy-of-chromosome-14 Paternal uniparental disomy of chromosome 14]
 
* '''[[Kahler disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7108/multiple-myeloma Multiple myeloma]
 
* '''[[KAL1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3071/kallmann-syndrome-1 Kallmann syndrome 1]
 
* '''[[KAL2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3070/kallmann-syndrome-2 Kallmann syndrome 2]
 
* '''[[KAL3]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3073/kallmann-syndrome-3 Kallmann syndrome 3]
 
* '''[[KAL4]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10772/kallmann-syndrome-4 Kallmann syndrome 4]
 
* '''[[KAL5]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10773/kallmann-syndrome-5 Kallmann syndrome 5]
 
* '''[[KAL6]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10774/kallmann-syndrome-6 Kallmann syndrome 6]
 
* '''[[Kala-azar]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6881/leishmaniasis Leishmaniasis]
 
* '''[[Kaler Garrity Stern syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/354/osteopenia-and-sparse-hair Osteopenia and sparse hair]
 
* '''[[Kallikrein attenuated hypertension]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6811/kallikrein-hypertension Kallikrein hypertension]
 
* '''[https://rarediseases.info.nih.gov/diseases/6811/kallikrein-hypertension Kallikrein hypertension]
 
* '''[https://rarediseases.info.nih.gov/diseases/10771/kallmann-syndrome Kallmann syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3071/kallmann-syndrome-1 Kallmann syndrome 1]
 
* '''[https://rarediseases.info.nih.gov/diseases/3070/kallmann-syndrome-2 Kallmann syndrome 2]
 
* '''[https://rarediseases.info.nih.gov/diseases/3073/kallmann-syndrome-3 Kallmann syndrome 3]
 
* '''[https://rarediseases.info.nih.gov/diseases/10772/kallmann-syndrome-4 Kallmann syndrome 4]
 
* '''[https://rarediseases.info.nih.gov/diseases/10773/kallmann-syndrome-5 Kallmann syndrome 5]
 
* '''[https://rarediseases.info.nih.gov/diseases/10774/kallmann-syndrome-6 Kallmann syndrome 6]
 
* '''[[Kallmann syndrome, type 1, X-linked]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3071/kallmann-syndrome-1 Kallmann syndrome 1]
 
* '''[[Kallmann syndrome, X-linked]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3071/kallmann-syndrome-1 Kallmann syndrome 1]
 
* '''[[Kallmann's syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10771/kallmann-syndrome Kallmann syndrome]
 
* '''[[KANSL1-Related Intellectual Disability Syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10727/koolen-de-vries-syndrome Koolen de Vries syndrome]
 
* '''[[Kantaputra mesomelic dysplasia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3074/mesomelic-dysplasia-kantaputra-type Mesomelic dysplasia Kantaputra type]
 
* '''[https://rarediseases.info.nih.gov/diseases/9161/kanzaki-disease Kanzaki disease]
 
* '''[https://rarediseases.info.nih.gov/diseases/8355/kaolin-pneumoconiosis Kaolin pneumoconiosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/3075/kaplan-plauchu-fitch-syndrome Kaplan Plauchu Fitch syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/6814/kaposi-sarcoma Kaposi sarcoma]
 
* '''[[Kaposi sarcoma herpesvirus]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6814/kaposi-sarcoma Kaposi sarcoma]
 
* '''[[Kaposiform hemangio-endothelioma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3077/kaposiform-hemangioendothelioma Kaposiform Hemangioendothelioma]
 
* '''[https://rarediseases.info.nih.gov/diseases/3077/kaposiform-hemangioendothelioma Kaposiform Hemangioendothelioma]
 
* '''[https://rarediseases.info.nih.gov/diseases/13451/kaposiform-lymphangiomatosis Kaposiform lymphangiomatosis]
 
* '''[[Kaposi's sarcoma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6814/kaposi-sarcoma Kaposi sarcoma]
 
* '''[https://rarediseases.info.nih.gov/diseases/3078/kapur-toriello-syndrome Kapur Toriello syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/10688/karak-syndrome Karak syndrome]
 
* '''[[KARAK SYNDROME, INCLUDED]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3957/infantile-neuroaxonal-dystrophy Infantile neuroaxonal dystrophy]
 
* '''[https://rarediseases.info.nih.gov/diseases/192/karandikar-maria-kamble-syndrome Karandikar Maria Kamble syndrome]
 
* '''[[Karl Adolph von Basedow]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8177/basedows-coma Basedow's coma]
 
* '''[[Karsch-Neugebauer syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4967/split-hand-split-foot-nystagmus Split hand split foot nystagmus]
 
* '''[https://rarediseases.info.nih.gov/diseases/6815/kartagener-syndrome Kartagener syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/11003/karyomegalic-interstitial-nephritis Karyomegalic interstitial nephritis]
 
* '''[[Kasabach Merritt phenomenon]]'''
 
See [https://rarediseases.info.nih.gov/diseases/70/hemangioma-thrombocytopenia-syndrome Hemangioma thrombocytopenia syndrome]
 
* '''[[Kasabach Merritt syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/70/hemangioma-thrombocytopenia-syndrome Hemangioma thrombocytopenia syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/191/kashani-strom-utley-syndrome Kashani Strom Utley syndrome]
 
* '''[[Kast Syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6958/maffucci-syndrome Maffucci syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3080/kasznica-carlson-coppedge-syndrome Kasznica Carlson Coppedge syndrome]
 
* '''[[Katayama fever]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9687/schistosomiasis Schistosomiasis]
 
* '''[https://rarediseases.info.nih.gov/diseases/3081/katsantoni-papadakou-lagoyanni-syndrome Katsantoni Papadakou Lagoyanni syndrome]
 
* '''[[Kaufman McKusick syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3427/mckusick-kaufman-syndrome McKusick Kaufman syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3084/kaufman-oculocerebrofacial-syndrome Kaufman oculocerebrofacial syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/6816/kawasaki-disease Kawasaki disease]
 
* '''[[Kawasaki syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6816/kawasaki-disease Kawasaki disease]
 
* '''[[Kawashima tsuji syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/230/microcephaly-deafness-syndrome Microcephaly deafness syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/82/kbg-syndrome KBG syndrome]
 
* '''[[KC]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6824/keratoconus Keratoconus]
 
* '''[[KCNK9 imprinting syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10358/birk-barel-syndrome Birk-Barel syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/13060/kcnq2-related-disorders KCNQ2-Related Disorders]
 
* '''[[KCS1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8367/kenny-caffey-syndrome-type-1 Kenny-Caffey syndrome type 1]
 
* '''[[KCS2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/83/kenny-caffey-syndrome-type-2 Kenny-Caffey syndrome type 2]
 
* '''[https://rarediseases.info.nih.gov/diseases/6817/kearns-sayre-syndrome Kearns-Sayre syndrome]
 
* '''[[kEDS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2083/kyphoscoliotic-ehlers-danlos-syndrome Kyphoscoliotic Ehlers-Danlos syndrome]
 
* '''[[kEDS-PLOD1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2083/kyphoscoliotic-ehlers-danlos-syndrome Kyphoscoliotic Ehlers-Danlos syndrome]
 
* '''[[Keipert Syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/267/nasodigitoacoustic-syndrome Nasodigitoacoustic syndrome]
 
* '''[[Keller syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2317/fg-syndrome FG syndrome]
 
* '''[[Kelly-Paterson syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8259/plummer-vinson-syndrome Plummer Vinson syndrome]
 
* '''[[Kelly's syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8259/plummer-vinson-syndrome Plummer Vinson syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/6818/kennedy-disease Kennedy disease]
 
* '''[[Kennerknecht Sorgo Oberhoffer syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3086/pagod-syndrome PAGOD syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/8367/kenny-caffey-syndrome-type-1 Kenny-Caffey syndrome type 1]
 
* '''[https://rarediseases.info.nih.gov/diseases/83/kenny-caffey-syndrome-type-2 Kenny-Caffey syndrome type 2]
 
* '''[[Kenny-Caffey syndrome, autosomal dominant]]'''
 
See [https://rarediseases.info.nih.gov/diseases/83/kenny-caffey-syndrome-type-2 Kenny-Caffey syndrome type 2]
 
* '''[[Kenny-Caffey syndrome, autosomal recessive]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8367/kenny-caffey-syndrome-type-1 Kenny-Caffey syndrome type 1]
 
* '''[[Kerasin lipoidosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8233/gaucher-disease Gaucher disease]
 
* '''[[Kerasin thesaurismosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8233/gaucher-disease Gaucher disease]
 
* '''[[Keratitis sicca]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8444/keratoconjunctivitis-sicca Keratoconjunctivitis sicca] ''- not a rare disease''
 
* '''[https://rarediseases.info.nih.gov/diseases/3089/keratitis-hereditary Keratitis, hereditary]
 
* '''[[Keratitis, Ichthyosis, and Deafness (KID) Syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3113/kid-syndrome KID syndrome]
 
* '''[[Keratitis-ichthyosis-deafness syndrome, autosomal dominant]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3113/kid-syndrome KID syndrome]
 
* '''[[Keratitis-ichthyosis-deafness syndrome, autosomal recessive]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2946/ichthyosiform-erythroderma-corneal-involvement-deafness Ichthyosiform erythroderma, corneal involvement, deafness]
 
* '''[[Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3113/kid-syndrome KID syndrome]
 
* '''[[Keratoacanthoma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6821/muir-torre-syndrome Muir-Torre syndrome]
 
* '''[[Keratoactinomycosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5728/actinomycosis Actinomycosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/8444/keratoconjunctivitis-sicca Keratoconjunctivitis sicca] ''- not a rare disease''
 
* '''[https://rarediseases.info.nih.gov/diseases/6824/keratoconus Keratoconus]
 
* '''[https://rarediseases.info.nih.gov/diseases/3091/keratoconus-posticus-circumscriptus Keratoconus posticus circumscriptus]
 
* '''[[Keratoderma hereditarium mutilans]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3092/vohwinkel-syndrome Vohwinkel syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3094/keratoderma-palmoplantar-deafness Keratoderma palmoplantar deafness]
 
* '''[https://rarediseases.info.nih.gov/diseases/3095/keratoderma-palmoplantar-spastic-paralysis Keratoderma palmoplantar spastic paralysis]
 
* '''[[Keratoderma palmoplantar striate form 3]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9173/keratosis-palmoplantaris-striata-3 Keratosis palmoplantaris striata 3]
 
* '''[[Keratoderma palmoplantar, punctate type 2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4439/punctate-palmoplantar-keratoderma-type-2 Punctate palmoplantar keratoderma type 2]
 
* '''[[Keratoderma palmoplantar, with deafness]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3094/keratoderma-palmoplantar-deafness Keratoderma palmoplantar deafness]
 
* '''[https://rarediseases.info.nih.gov/diseases/3096/keratoderma-palmoplantaris-transgrediens Keratoderma palmoplantaris transgrediens]
 
* '''[[Keratoderma with woolly hair type II]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5595/cardiomyopathy-dilated-with-woolly-hair-and-keratoderma Cardiomyopathy dilated with woolly hair and keratoderma]
 
* '''[[Keratoderma, hypotrichosis and leukonychia totalis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/833/basaran-yilmaz-syndrome Basaran Yilmaz syndrome]
 
* '''[[Keratoderma, Palmoplantar]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8167/palmoplantar-keratoderma Palmoplantar keratoderma]
 
* '''[[Keratoderma, palmoplantar punctate type 1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3103/punctate-palmoplantar-keratoderma-type-i Punctate palmoplantar keratoderma type I]
 
* '''[[Keratoderma, palmoplantar striate form 1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9172/keratosis-palmoplantaris-striata-1 Keratosis palmoplantaris striata 1]
 
* '''[[Keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3095/keratoderma-palmoplantar-spastic-paralysis Keratoderma palmoplantar spastic paralysis]
 
* '''[[Keratodermia palmoplantar periorificial]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3061/judge-misch-wright-syndrome Judge Misch Wright syndrome]
 
* '''[[Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3103/punctate-palmoplantar-keratoderma-type-i Punctate palmoplantar keratoderma type I]
 
* '''[[Keratolysis exfoliativa congenita]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7347/peeling-skin-syndrome Peeling skin syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/8275/keratolytic-winter-erythema Keratolytic winter erythema]
 
* '''[https://rarediseases.info.nih.gov/diseases/6825/keratomalacia Keratomalacia]
 
* '''[[Keratoneuralgia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13487/corneal-neuropathic-disease Corneal neuropathic disease]
 
* '''[[Keratoris palmoplantaris with periodontopathia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3100/papillon-lefevre-syndrome Papillon Lefevre syndrome]
 
* '''[[Keratosis exfoliativa congenita]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7347/peeling-skin-syndrome Peeling skin syndrome]
 
* '''[[Keratosis extremitatum hereditaria progrediens]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3096/keratoderma-palmoplantaris-transgrediens Keratoderma palmoplantaris transgrediens]
 
* '''[[Keratosis focal palmoplantar gingival]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3098/focal-palmoplantar-and-gingival-keratoderma Focal palmoplantar and gingival keratoderma]
 
* '''[[Keratosis follicularis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6243/darier-disease Darier disease]
 
* '''[https://rarediseases.info.nih.gov/diseases/3099/keratosis-follicularis-dwarfism-and-cerebral-atrophy Keratosis follicularis dwarfism and cerebral atrophy]
 
* '''[https://rarediseases.info.nih.gov/diseases/6829/keratosis-follicularis-spinulosa-decalvans Keratosis follicularis spinulosa decalvans]
 
* '''[[Keratosis follicularis spinulosa decalvans cum ophiasi]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6829/keratosis-follicularis-spinulosa-decalvans Keratosis follicularis spinulosa decalvans]
 
* '''[[Keratosis of Greither]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2826/epidermolytic-palmoplantar-keratoderma Epidermolytic palmoplantar keratoderma]
 
* '''[[Keratosis palmaris et plantaris with esophageal cancer]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3102/tylosis-with-esophageal-cancer Tylosis with esophageal cancer]
 
* '''[[Keratosis palmoplantar - periodontopathy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3100/papillon-lefevre-syndrome Papillon Lefevre syndrome]
 
* '''[[Keratosis palmoplantaris arrythmogenic cardiomyopathy woolly hair]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9795/naxos-disease Naxos disease]
 
* '''[[Keratosis palmoplantaris papulosa]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3103/punctate-palmoplantar-keratoderma-type-i Punctate palmoplantar keratoderma type I]
 
* '''[https://rarediseases.info.nih.gov/diseases/9172/keratosis-palmoplantaris-striata-1 Keratosis palmoplantaris striata 1]
 
* '''[https://rarediseases.info.nih.gov/diseases/9173/keratosis-palmoplantaris-striata-3 Keratosis palmoplantaris striata 3]
 
* '''[[Keratosis palmoplantaris transgradiens of Siemens]]'''
 
See [https://rarediseases.info.nih.gov/diseases/92/meleda-disease Meleda disease]
 
* '''[[Keratosis palmoplantaris transgrediens et progrediens]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3096/keratoderma-palmoplantaris-transgrediens Keratoderma palmoplantaris transgrediens]
 
* '''[[Keratosis palmoplantaris with corneal dystrophy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3105/tyrosinemia-type-2 Tyrosinemia type 2]
 
* '''[[Keratosis palmoplantaris with esophageal cancer]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3102/tylosis-with-esophageal-cancer Tylosis with esophageal cancer]
 
* '''[[Keratosis palmoplantaris with periodontopathia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3100/papillon-lefevre-syndrome Papillon Lefevre syndrome]
 
* '''[[Keratosis palmoplantaris with periodontopathia and onychogryposis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/44/haim-munk-syndrome Haim-Munk syndrome]
 
* '''[[Keratosis palmoplantaris-esophageal carcinoma syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3102/tylosis-with-esophageal-cancer Tylosis with esophageal cancer]
 
* '''[[Keratosis palmoplantar-periodontopathy syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3100/papillon-lefevre-syndrome Papillon Lefevre syndrome]
 
* '''[[Keratosis pilaris affecting the follicles of the eyebrow hairs]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5395/ulerythema-ophryogenesis Ulerythema ophryogenesis]
 
* '''[[Keratosis Seborrheica]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3108/seborrheic-keratosis Seborrheic keratosis] ''- not a rare disease''
 
* '''[[Keratosis, seborrheic]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3108/seborrheic-keratosis Seborrheic keratosis] ''- not a rare disease''
 
* '''[https://rarediseases.info.nih.gov/diseases/3109/kerion-celsi Kerion celsi]
 
* '''[https://rarediseases.info.nih.gov/diseases/6830/kernicterus Kernicterus]
 
* '''[[Kernicterus spectrum disorder]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6830/kernicterus Kernicterus]
 
* '''[https://rarediseases.info.nih.gov/diseases/8761/keshan-disease Keshan disease]
 
* '''[[Keto acid decarboxylase deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3228/maple-syrup-urine-disease Maple syrup urine disease]
 
* '''[[Ketoacidosis due to SCOT deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4774/scot-deficiency SCOT deficiency]
 
* '''[[Ketoaciduria - intellectual disability - ataxia - deafness]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8423/richards-rundle-syndrome Richards-Rundle syndrome]
 
* '''[[Ketoaciduria-intellectual disability-ataxia-deafness syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8423/richards-rundle-syndrome Richards-Rundle syndrome]
 
* '''[[Ketoaciduria-mental deficiency syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8423/richards-rundle-syndrome Richards-Rundle syndrome]
 
* '''[[Ketohexokinase deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6471/essential-fructosuria Essential fructosuria] ''- not a rare disease''
 
* '''[[Ketotic glycinemia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/467/propionic-acidemia Propionic acidemia]
 
* '''[[Ketotic hyperglycinemia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/467/propionic-acidemia Propionic acidemia]
 
* '''[https://rarediseases.info.nih.gov/diseases/8449/keutel-syndrome Keutel syndrome]
 
* '''[[KFD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8257/kyasanur-forest-disease Kyasanur Forest disease]
 
* '''[[KFD virus]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8257/kyasanur-forest-disease Kyasanur Forest disease]
 
* '''[[KFSD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6829/keratosis-follicularis-spinulosa-decalvans Keratosis follicularis spinulosa decalvans]
 
* '''[[KH]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3077/kaposiform-hemangioendothelioma Kaposiform Hemangioendothelioma]
 
* '''[[KHE]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3077/kaposiform-hemangioendothelioma Kaposiform Hemangioendothelioma]
 
* '''[[KHM]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3092/vohwinkel-syndrome Vohwinkel syndrome]
 
* '''[[KICS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10827/kshv-inflammatory-cytokine-syndrome KSHV inflammatory cytokine syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3113/kid-syndrome KID syndrome]
 
* '''[[KID syndrome, autosomal dominant]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3113/kid-syndrome KID syndrome]
 
* '''[[KID syndrome, autosomal recessive]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2946/ichthyosiform-erythroderma-corneal-involvement-deafness Ichthyosiform erythroderma, corneal involvement, deafness]
 
* '''[[KID/HID syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3113/kid-syndrome KID syndrome]
 
* '''[[Kidney Medullary Carcinoma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13175/renal-medullary-carcinoma Renal medullary carcinoma]
 
* '''[[Kienbock disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9690/kienbocks-disease Kienbock's disease]
 
* '''[https://rarediseases.info.nih.gov/diseases/9690/kienbocks-disease Kienbock's disease]
 
* '''[https://rarediseases.info.nih.gov/diseases/8420/kifafa-seizure-disorder Kifafa seizure disorder]
 
* '''[https://rarediseases.info.nih.gov/diseases/6834/kikuchi-disease Kikuchi disease]
 
* '''[[Kikuchi necrotizing lymphadenitis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6834/kikuchi-disease Kikuchi disease]
 
* '''[[Kikuchi-Fujimoto disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6834/kikuchi-disease Kikuchi disease]
 
* '''[[Kikuchi-Fujimoto's disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6834/kikuchi-disease Kikuchi disease]
 
* '''[[Kikuchi's disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6834/kikuchi-disease Kikuchi disease]
 
* '''[[Killian syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8421/pallister-killian-mosaic-syndrome Pallister-Killian mosaic syndrome]
 
* '''[[Killian Teschler-Nicola syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8421/pallister-killian-mosaic-syndrome Pallister-Killian mosaic syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/6835/kimura-disease Kimura disease]
 
* '''[[KIN]]'''
 
See [https://rarediseases.info.nih.gov/diseases/11003/karyomegalic-interstitial-nephritis Karyomegalic interstitial nephritis]
 
* '''[https://rarediseases.info.nih.gov/diseases/4391/kindler-syndrome Kindler syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/8433/king-denborough-syndrome King Denborough syndrome]
 
* '''[[King syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8433/king-denborough-syndrome King Denborough syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/10721/kingella-infections Kingella infections]
 
* '''[[Kinky hair disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1521/menkes-disease Menkes disease]
 
* '''[[Kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation (formerly)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2582/hair-defect-photosensitivity-intellectual-disability-syndrome Hair defect-photosensitivity-intellectual disability syndrome]
 
* '''[[Kinky or curly hair, dolichocephaly, enamel hypoplasia, increased dental caries, radial dense bones, and brittle nails]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5252/tricho-dento-osseous-syndrome-1 Tricho-dento-osseous syndrome 1]
 
* '''[[Kinsbourne syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10009/opsoclonus-myoclonus-syndrome Opsoclonus-myoclonus syndrome]
 
* '''[[Kirghizian Dermatoosteolysis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1814/dermatoosteolysis-kirghizian-type Dermatoosteolysis Kirghizian type]
 
* '''[[Kirner deformity]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10059/dystelephalangy Dystelephalangy]
 
* '''[[Kitamura reticulate acropigmentation]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9775/dowling-degos-disease Dowling-Degos disease]
 
* '''[[Kjellin syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9581/spastic-paraplegia-15 Spastic paraplegia 15]
 
* '''[[Kjer-type optic atrophy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9890/optic-atrophy-1 Optic atrophy 1]
 
* '''[https://rarediseases.info.nih.gov/diseases/10175/klatskin-tumor Klatskin tumor]
 
* '''[[Klatskin's tumor]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10175/klatskin-tumor Klatskin tumor]
 
* '''[[Klebsiella]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10085/klebsiella-infection Klebsiella infection]
 
* '''[https://rarediseases.info.nih.gov/diseases/10085/klebsiella-infection Klebsiella infection]
 
* '''[[Kleeblattschaedel deformity syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3115/kleeblattschaedel-syndrome Kleeblattschaedel syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3115/kleeblattschaedel-syndrome Kleeblattschaedel syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/8672/kleefstra-syndrome Kleefstra syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3117/kleine-levin-syndrome Kleine Levin syndrome]
 
* '''[[Kleine-Levin hibernation syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3117/kleine-levin-syndrome Kleine Levin syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3118/kleiner-holmes-syndrome Kleiner Holmes syndrome]
 
* '''[[Klein-Waardenburg syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5523/waardenburg-syndrome-type-3 Waardenburg syndrome type 3]
 
* '''[https://rarediseases.info.nih.gov/diseases/8705/klinefelter-syndrome Klinefelter syndrome] ''- not a rare disease''
 
* '''[[Klinefelter's syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8705/klinefelter-syndrome Klinefelter syndrome] ''- not a rare disease''
 
* '''[https://rarediseases.info.nih.gov/diseases/10280/klippel-feil-syndrome Klippel Feil syndrome]
 
* '''[[Klippel Trenaunay syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3122/klippel-trenaunay-syndrome Klippel-Trenaunay syndrome]
 
* '''[[Klippel-feil deformity, conductive deafness, and absent vagina]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5513/murcs-association MURCS association]
 
* '''[[Klippel-Feil syndrome with laryngeal malformation]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6838/segmentation-syndrome-1 Segmentation syndrome 1]
 
* '''[https://rarediseases.info.nih.gov/diseases/3122/klippel-trenaunay-syndrome Klippel-Trenaunay syndrome]
 
* '''[[Klippel-Trenaunay-Weber syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3122/klippel-trenaunay-syndrome Klippel-Trenaunay syndrome]
 
* '''[[Klippel-Trénaunay-Weber syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3122/klippel-trenaunay-syndrome Klippel-Trenaunay syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3123/klumpke-paralysis Klumpke paralysis]
 
* '''[[Klumpke's palsy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3123/klumpke-paralysis Klumpke paralysis]
 
* '''[https://rarediseases.info.nih.gov/diseases/6840/kluver-bucy-syndrome Kluver Bucy syndrome]
 
* '''[[KMP]]'''
 
See [https://rarediseases.info.nih.gov/diseases/70/hemangioma-thrombocytopenia-syndrome Hemangioma thrombocytopenia syndrome]
 
* '''[[KMS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6810/kabuki-syndrome Kabuki syndrome]
 
* '''[[KMT2B-Related Dystonia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13671/dyt-kmt2b DYT-KMT2B]
 
* '''[[Knee replacement infection]]'''
 
See [https://rarediseases.info.nih.gov/diseases/11977/prosthetic-joint-infection Prosthetic joint infection]
 
* '''[https://rarediseases.info.nih.gov/diseases/6841/kniest-dysplasia Kniest dysplasia]
 
* '''[https://rarediseases.info.nih.gov/diseases/3124/kniest-like-dysplasia-lethal Kniest like dysplasia lethal]
 
* '''[https://rarediseases.info.nih.gov/diseases/10512/kniest-like-dysplasia-with-pursed-lips-and-ectopia-lentis Kniest-like dysplasia with pursed lips and ectopia lentis]
 
* '''[https://rarediseases.info.nih.gov/diseases/380/knobloch-syndrome Knobloch syndrome]
 
* '''[[Knobloch-Layer syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/380/knobloch-syndrome Knobloch syndrome]
 
* '''[[KNS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4967/split-hand-split-foot-nystagmus Split hand split foot nystagmus]
 
* '''[https://rarediseases.info.nih.gov/diseases/3125/knuckle-pads-leuconychia-and-sensorineural-deafness Knuckle pads, leuconychia and sensorineural deafness]
 
* '''[[Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3125/knuckle-pads-leuconychia-and-sensorineural-deafness Knuckle pads, leuconychia and sensorineural deafness]
 
* '''[[Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3125/knuckle-pads-leuconychia-and-sensorineural-deafness Knuckle pads, leuconychia and sensorineural deafness]
 
* '''[[Kocher Debre Semelaigne disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8270/kocher-debre-semelaigne-syndrome Kocher-Debre-Semelaigne syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/8270/kocher-debre-semelaigne-syndrome Kocher-Debre-Semelaigne syndrome]
 
* '''[[Kochs disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7827/tuberculosis Tuberculosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/6842/kohler-disease Kohler disease]
 
* '''[[Kohler's Disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6842/kohler-disease Kohler disease]
 
* '''[[Kohler's Disease of the Tarsal Navicular]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6842/kohler-disease Kohler disease]
 
* '''[[Kohler's Osteochondrosis of the Tarsal Navicular]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6842/kohler-disease Kohler disease]
 
* '''[[Kohler's second disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2380/freibergs-disease Freiberg's disease]
 
* '''[[Kohlmeier-Degos disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6249/malignant-atrophic-papulosis Malignant Atrophic Papulosis]
 
* '''[[Köhlmeier-Degos disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6249/malignant-atrophic-papulosis Malignant Atrophic Papulosis]
 
* '''[[Köhlmeier-Degos-Delort-Tricort syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6249/malignant-atrophic-papulosis Malignant Atrophic Papulosis]
 
* '''[[Kohlschutter syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3128/kohlschutter-tonz-syndrome Kohlschutter Tonz syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3128/kohlschutter-tonz-syndrome Kohlschutter Tonz syndrome]
 
* '''[[Kok disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3129/hereditary-hyperekplexia Hereditary hyperekplexia]
 
* '''[[Komuragaeri Disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/160/satoyoshi-syndrome Satoyoshi syndrome]
 
* '''[[Kônig disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12703/osteochondritis-dissecans Osteochondritis dissecans]
 
* '''[[König disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12703/osteochondritis-dissecans Osteochondritis dissecans]
 
* '''[https://rarediseases.info.nih.gov/diseases/10727/koolen-de-vries-syndrome Koolen de Vries syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3131/koone-rizzo-elias-syndrome Koone Rizzo Elias syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/11922/koro Koro]
 
* '''[[Koro syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/11922/koro Koro]
 
* '''[[KOS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3084/kaufman-oculocerebrofacial-syndrome Kaufman oculocerebrofacial syndrome]
 
* '''[[Kossard disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3247/lichen-planopilaris Lichen planopilaris]
 
* '''[[Kostmann disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/302/severe-congenital-neutropenia-autosomal-recessive-3 Severe congenital neutropenia autosomal recessive 3]
 
* '''[https://rarediseases.info.nih.gov/diseases/381/kosztolanyi-syndrome Kosztolanyi syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3134/kotzot-richter-syndrome Kotzot-Richter syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/8561/kousseff-nichols-syndrome Kousseff Nichols syndrome]
 
* '''[[Kousseff syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4752/sacral-meningocele-conotruncal-heart-defects Sacral meningocele conotruncal heart defects]
 
* '''[https://rarediseases.info.nih.gov/diseases/408/kowarski-syndrome Kowarski syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3136/kozlowski-brown-hardwick-syndrome Kozlowski Brown Hardwick syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3139/kozlowski-ouvrier-syndrome Kozlowski Ouvrier syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3140/kozlowski-rafinski-klicharska-syndrome Kozlowski Rafinski Klicharska syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/353/kozlowski-warren-fisher-syndrome Kozlowski Warren Fisher syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3141/kozlowski-krajewska-syndrome Kozlowski-Krajewska syndrome]
 
* '''[[KPC]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3091/keratoconus-posticus-circumscriptus Keratoconus posticus circumscriptus]
 
* '''[https://rarediseases.info.nih.gov/diseases/6844/krabbe-disease Krabbe disease]
 
* '''[https://rarediseases.info.nih.gov/diseases/10289/krabbe-disease-atypical-due-to-saposin-a-deficiency Krabbe disease atypical due to Saposin A deficiency]
 
* '''[[Krabbe leukodystrophy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6844/krabbe-disease Krabbe disease]
 
* '''[[Kraepelin disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10032/presenile-dementia-kraepelin-type Presenile dementia, Kraepelin type]
 
* '''[[Kramer syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/105/oculocerebral-syndrome-with-hypopigmentation Oculocerebral syndrome with hypopigmentation]
 
* '''[[KRAS gene related Noonan syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10955/noonan-syndrome Noonan syndrome]
 
* '''[[Krasnow Qazi syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1102/cardiomyopathy-cataract-hip-spine-disease Cardiomyopathy cataract hip spine disease]
 
* '''[[Krasnow Qazi Yermakov syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1102/cardiomyopathy-cataract-hip-spine-disease Cardiomyopathy cataract hip spine disease]
 
* '''[[Krause-Kivlin syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8422/peters-plus-syndrome Peters plus syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3143/krauss-herman-holmes-syndrome Krauss Herman Holmes syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3144/krieble-bixler-syndrome Krieble Bixler syndrome]
 
* '''[[KRPPD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9174/parkinson-disease-type-9 Parkinson disease type 9]
 
* '''[https://rarediseases.info.nih.gov/diseases/8627/krukenberg-carcinoma Krukenberg carcinoma]
 
* '''[[Krukenberg tumor]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8627/krukenberg-carcinoma Krukenberg carcinoma]
 
* '''[[Krukenberg’s tumor]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8627/krukenberg-carcinoma Krukenberg carcinoma]
 
* '''[[KSHV]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6814/kaposi-sarcoma Kaposi sarcoma]
 
* '''[https://rarediseases.info.nih.gov/diseases/10827/kshv-inflammatory-cytokine-syndrome KSHV inflammatory cytokine syndrome]
 
* '''[[KSS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6817/kearns-sayre-syndrome Kearns-Sayre syndrome]
 
* '''[[KTS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3122/klippel-trenaunay-syndrome Klippel-Trenaunay syndrome]
 
* '''[[KTW syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3122/klippel-trenaunay-syndrome Klippel-Trenaunay syndrome]
 
* '''[[Kufor-Rakeb syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9174/parkinson-disease-type-9 Parkinson disease type 9]
 
* '''[[Kufs disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10973/adult-neuronal-ceroid-lipofuscinosis Adult neuronal ceroid lipofuscinosis]
 
* '''[[Kuf's disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10973/adult-neuronal-ceroid-lipofuscinosis Adult neuronal ceroid lipofuscinosis]
 
* '''[[Kuf's disease type B]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1222/autosomal-dominant-neuronal-ceroid-lipofuscinosis-4b Autosomal dominant neuronal ceroid lipofuscinosis 4B]
 
* '''[[Kuf's disease, autosomal dominant]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1222/autosomal-dominant-neuronal-ceroid-lipofuscinosis-4b Autosomal dominant neuronal ceroid lipofuscinosis 4B]
 
* '''[[Kugelberg-Welander syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/198/spinal-muscular-atrophy-type-3 Spinal muscular atrophy type 3]
 
* '''[[Kurczynski-Casperson syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9218/auralcephalosyndactyly Auralcephalosyndactyly]
 
* '''[https://rarediseases.info.nih.gov/diseases/7617/kuru Kuru]
 
* '''[https://rarediseases.info.nih.gov/diseases/3150/kuskokwim-disease Kuskokwim disease]
 
* '''[[Kuskokwim syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3150/kuskokwim-disease Kuskokwim disease]
 
* '''[https://rarediseases.info.nih.gov/diseases/3152/kuster-syndrome Kuster syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/174/kuzniecky-andermann-syndrome Kuzniecky Andermann syndrome]
 
* '''[[Kuzniecky syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/409/pachygyria-intellectual-disability-epilepsy-syndrome Pachygyria-intellectual disability-epilepsy syndrome]
 
* '''[[KWE]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8275/keratolytic-winter-erythema Keratolytic winter erythema]
 
* '''[[KWS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/198/spinal-muscular-atrophy-type-3 Spinal muscular atrophy type 3]
 
* '''[[KWWH type II]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5595/cardiomyopathy-dilated-with-woolly-hair-and-keratoderma Cardiomyopathy dilated with woolly hair and keratoderma]
 
* '''[https://rarediseases.info.nih.gov/diseases/8257/kyasanur-forest-disease Kyasanur Forest disease]
 
* '''[[Kynureninase deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10039/hydroxykynureninuria Hydroxykynureninuria]
 
* '''[https://rarediseases.info.nih.gov/diseases/10149/kyphomelic-dysplasia Kyphomelic dysplasia]
 
* '''[[Kyphoscoliotic EDS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2083/kyphoscoliotic-ehlers-danlos-syndrome Kyphoscoliotic Ehlers-Danlos syndrome]
 
* '''[[Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2083/kyphoscoliotic-ehlers-danlos-syndrome Kyphoscoliotic Ehlers-Danlos syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/2083/kyphoscoliotic-ehlers-danlos-syndrome Kyphoscoliotic Ehlers-Danlos syndrome]
 
* '''[[Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2083/kyphoscoliotic-ehlers-danlos-syndrome Kyphoscoliotic Ehlers-Danlos syndrome]
 
* '''[[Kyphosis brachyphalangy optic atrophy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5109/berk-tabatznik-syndrome Berk-Tabatznik syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/9738/kyrle-disease Kyrle disease]
 
* '''[[Kyrle's disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9738/kyrle-disease Kyrle disease]
 
* '''[https://rarediseases.info.nih.gov/diseases/12524/l1-syndrome L1 syndrome]
 
* '''[[L1CAM syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12524/l1-syndrome L1 syndrome]
 
* '''[[L-2-hydroxyglutaric acidemia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10472/l-2-hydroxyglutaric-aciduria L-2-hydroxyglutaric aciduria]
 
* '''[https://rarediseases.info.nih.gov/diseases/10472/l-2-hydroxyglutaric-aciduria L-2-hydroxyglutaric aciduria]
 
* '''[https://rarediseases.info.nih.gov/diseases/10925/la-crosse-encephalitis La Crosse encephalitis]
 
* '''[https://rarediseases.info.nih.gov/diseases/385/laband-syndrome Laband syndrome]
 
* '''[[LABD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5509/vocal-cord-dysfunction-familial Vocal cord dysfunction familial]
 
* '''[[Labile diabetes]]'''
 
See [https://rarediseases.info.nih.gov/diseases/11900/brittle-diabetes Brittle diabetes]
 
* '''[https://rarediseases.info.nih.gov/diseases/8374/labrador-lung Labrador lung]
 
* '''[[Labyrinthine fistula]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7361/perilymphatic-fistula Perilymphatic fistula]
 
* '''[[LACH]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10065/leukoencephalopathy-arthritis-colitis-and-hypogammaglobulinema Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema]
 
* '''[https://rarediseases.info.nih.gov/diseases/3157/lachiewicz-sibley-syndrome Lachiewicz Sibley syndrome]
 
* '''[[Lacrimoauriculodento-digital syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6848/lacrimo-auriculo-dento-digital-syndrome Lacrimo-auriculo-dento-digital syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/6848/lacrimo-auriculo-dento-digital-syndrome Lacrimo-auriculo-dento-digital syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3160/lactate-dehydrogenase-a-deficiency Lactate dehydrogenase A deficiency]
 
* '''[https://rarediseases.info.nih.gov/diseases/3161/lactate-dehydrogenase-b-deficiency Lactate dehydrogenase B deficiency]
 
* '''[https://rarediseases.info.nih.gov/diseases/3159/lactate-dehydrogenase-deficiency Lactate dehydrogenase deficiency]
 
* '''[[Lactate dehydrogenase deficiency type A]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3160/lactate-dehydrogenase-a-deficiency Lactate dehydrogenase A deficiency]
 
* '''[[Lactate dehydrogenase deficiency type B]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3161/lactate-dehydrogenase-b-deficiency Lactate dehydrogenase B deficiency]
 
* '''[[Lactation and squamous metaplasia of lactiferous ducts]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7919/zuskas-disease Zuska's disease]
 
* '''[[Lacteal cyst]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8401/galactocele Galactocele]
 
* '''[[Lactic acidemia with pyruvate dehydrogenase phosphatase deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9888/pyruvate-dehydrogenase-phosphatase-deficiency Pyruvate dehydrogenase phosphatase deficiency]
 
* '''[https://rarediseases.info.nih.gov/diseases/3163/lactic-acidosis-congenital-infantile Lactic acidosis congenital infantile]
 
* '''[[Lactiferous fistula]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7919/zuskas-disease Zuska's disease]
 
* '''[https://rarediseases.info.nih.gov/diseases/11968/lactobezoar Lactobezoar]
 
* '''[[Lactocele]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8401/galactocele Galactocele]
 
* '''[[Lactoferrin-deficient neutrophils]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10778/neutrophil-specific-granule-deficiency Neutrophil-specific granule deficiency]
 
* '''[[Lactotroph adenoma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4508/prolactinoma Prolactinoma]
 
* '''[[LAD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10960/linear-iga-disease Linear IgA disease]
 
* '''[[LAD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6893/leukocyte-adhesion-deficiency-type-1 Leukocyte adhesion deficiency type 1]
 
* '''[[LAD 1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6893/leukocyte-adhesion-deficiency-type-1 Leukocyte adhesion deficiency type 1]
 
* '''[[LAD2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4634/slc35c1-cdg-cdg-iic SLC35C1-CDG (CDG-IIc)]
 
* '''[[LADD syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6848/lacrimo-auriculo-dento-digital-syndrome Lacrimo-auriculo-dento-digital syndrome]
 
* '''[[Ladda Zonana Ramer syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1515/arthrogryposis-ectodermal-dysplasia-cleft-lippalate-and-developmental-delay Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay]
 
* '''[[LAD-I]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6893/leukocyte-adhesion-deficiency-type-1 Leukocyte adhesion deficiency type 1]
 
* '''[[Lafora body disorder]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8214/lafora-disease Lafora disease]
 
* '''[https://rarediseases.info.nih.gov/diseases/8214/lafora-disease Lafora disease]
 
* '''[[Lagophthalmia with bilateral cleft lip and palate]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2071/ectropion-inferior-cleft-lip-and-or-palate Ectropion inferior cleft lip and or palate]
 
* '''[https://rarediseases.info.nih.gov/diseases/10769/laing-distal-myopathy Laing distal myopathy]
 
* '''[[Laing early-onset distal myopathy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10769/laing-distal-myopathy Laing distal myopathy]
 
* '''[[LAL deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12097/lysosomal-acid-lipase-deficiency Lysosomal acid lipase deficiency]
 
* '''[[LAM]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3319/lymphangioleiomyomatosis Lymphangioleiomyomatosis]
 
* '''[[LAM M2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/527/acute-myeloblastic-leukemia-with-maturation Acute myeloblastic leukemia with maturation]
 
* '''[[LAMA2-related muscular dystrophy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3843/congenital-muscular-dystrophy-type-1a Congenital muscular dystrophy type 1A]
 
* '''[[LAMB syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1119/carney-complex Carney complex]
 
* '''[https://rarediseases.info.nih.gov/diseases/3168/lambdoid-synostosis Lambdoid synostosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/6851/lambert-eaton-myasthenic-syndrome Lambert Eaton myasthenic syndrome]
 
* '''[[Lambert Eaton syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6851/lambert-eaton-myasthenic-syndrome Lambert Eaton myasthenic syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3169/lambert-syndrome Lambert syndrome]
 
* '''[[Lambotte syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8470/microcephaly-holoprosencephaly-and-intrauterine-growth-retardation Microcephaly, holoprosencephaly, and intrauterine growth retardation]
 
* '''[[Lamellar exfoliation of newborn]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3170/ichthyosis-lamellar-1 Ichthyosis lamellar 1]
 
* '''[https://rarediseases.info.nih.gov/diseases/10803/lamellar-ichthyosis Lamellar ichthyosis]
 
* '''[[Lamellar ichthyosis, autosomal dominant]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9735/ichthyosis-lamellar-autosomal-dominant Ichthyosis lamellar, autosomal dominant]
 
* '''[[Lamellar ichthyosis, type 1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3170/ichthyosis-lamellar-1 Ichthyosis lamellar 1]
 
* '''[[Lamellar ichthyosis, type 2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9733/ichthyosis-lamellar-2 Ichthyosis lamellar 2]
 
* '''[[Lamellar ichthyosis, type 3]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9734/ichthyosis-lamellar-3 Ichthyosis lamellar 3]
 
* '''[[Laminin alpha-2 deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3843/congenital-muscular-dystrophy-type-1a Congenital muscular dystrophy type 1A]
 
* '''[[LAMM syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10707/deafness-with-labyrinthine-aplasia-microtia-and-microdontia-lamm Deafness with labyrinthine aplasia microtia and microdontia (LAMM)]
 
* '''[https://rarediseases.info.nih.gov/diseases/6855/landau-kleffner-syndrome Landau-Kleffner syndrome]
 
* '''[[Landouzy-Dejerine muscular dystrophy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9941/facioscapulohumeral-muscular-dystrophy Facioscapulohumeral muscular dystrophy]
 
* '''[[Landry-Guillain-Barre-Strohl syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6554/guillain-barre-syndrome Guillain-Barre syndrome]
 
* '''[[Landry's ascending paralysis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6554/guillain-barre-syndrome Guillain-Barre syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3172/landy-donnai-syndrome Landy-Donnai syndrome]
 
* '''[[Langer Giedion Syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7801/trichorhinophalangeal-syndrome-type-2 Trichorhinophalangeal syndrome type 2]
 
* '''[https://rarediseases.info.nih.gov/diseases/3553/langer-mesomelic-dysplasia Langer mesomelic dysplasia]
 
* '''[https://rarediseases.info.nih.gov/diseases/3174/langer-nishino-yamaguchi-syndrome Langer Nishino Yamaguchi syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/6858/langerhans-cell-histiocytosis Langerhans cell histiocytosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/10491/langerhans-cell-sarcoma Langerhans cell sarcoma]
 
* '''[[Langer-Saldino achondrogenesis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2882/achondrogenesis Achondrogenesis]
 
* '''[[Laparoschisis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8661/gastroschisis Gastroschisis]
 
* '''[[LAPS syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2572/myhre-syndrome Myhre syndrome]
 
* '''[[Large cell immunoblastic lymphoma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8219/lymphoma-large-cell-immunoblastic Lymphoma, large-cell, immunoblastic]
 
* '''[[Large congenital melanocytic nevus]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2469/giant-congenital-nevus Giant congenital nevus]
 
* '''[https://rarediseases.info.nih.gov/diseases/9812/large-granular-lymphocyte-leukemia Large granular lymphocyte leukemia]
 
* '''[[Large gyri of cerebrum]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7300/pachygyria Pachygyria]
 
* '''[[Large pulp chambers in the molars]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5119/taurodontism Taurodontism]
 
* '''[[Large vestibular aqueduct syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8651/enlarged-vestibular-aqueduct-syndrome Enlarged vestibular aqueduct syndrome]
 
* '''[[Large-intestinal infection with Balantidium coli]]'''
 
See [https://rarediseases.info.nih.gov/diseases/809/balantidiasis Balantidiasis]
 
* '''[https://rarediseases.info.nih.gov/diseases/10323/l-arginineglycine-amidinotransferase-deficiency L-arginine:glycine amidinotransferase deficiency]
 
* '''[[Laron dwarfism]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6859/laron-syndrome Laron syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/6859/laron-syndrome Laron syndrome]
 
* '''[[Laron syndrome due to postreceptor defect]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3924/growth-hormone-insensitivity-with-immunodeficiency Growth hormone insensitivity with immunodeficiency]
 
* '''[[Laron type pituitary dwarfism I]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6859/laron-syndrome Laron syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/6860/larsen-syndrome Larsen syndrome]
 
* '''[[Larsen-like multiple joint dislocation syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3181/larsen-like-syndrome Larsen-like syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3181/larsen-like-syndrome Larsen-like syndrome]
 
* '''[[Larsen-like syndrome, lethal type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3181/larsen-like-syndrome Larsen-like syndrome]
 
* '''[[Laryngeal abductor paralysis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5509/vocal-cord-dysfunction-familial Vocal cord dysfunction familial]
 
* '''[[Laryngeal and pharyngeal hypoplasia with omphalocele]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9850/shprintzen-omphalocele-syndrome Shprintzen omphalocele syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/6862/laryngeal-cancer Laryngeal cancer]
 
* '''[[Laryngeal carcinoma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6862/laryngeal-cancer Laryngeal cancer]
 
* '''[https://rarediseases.info.nih.gov/diseases/3188/laryngeal-cleft Laryngeal cleft]
 
* '''[[Laryngeal dyskinesia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7668/spasmodic-dysphonia Spasmodic dysphonia]
 
* '''[[Laryngeal dystonia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7668/spasmodic-dysphonia Spasmodic dysphonia]
 
* '''[[Laryngeal papilloma, recurrent]]'''
 
See [https://rarediseases.info.nih.gov/diseases/111/recurrent-respiratory-papillomatosis Recurrent respiratory papillomatosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/6864/laryngeal-papillomatosis Laryngeal papillomatosis]
 
* '''[[Laryngeal web, congenital heart disease and low stature]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2446/gay-feinmesser-cohen-syndrome Gay Feinmesser Cohen syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3191/laryngocele Laryngocele]
 
* '''[https://rarediseases.info.nih.gov/diseases/6865/laryngomalacia Laryngomalacia]
 
* '''[[Laryngomalacia congenital]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6865/laryngomalacia Laryngomalacia]
 
* '''[[Laryngoonychocutaneous syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa Epidermolysis bullosa]
 
* '''[[Laryngo-onycho-cutaneous syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa Epidermolysis bullosa]
 
* '''[[Laryngotracheal cleft]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3188/laryngeal-cleft Laryngeal cleft]
 
* '''[[Laryngotracheal stenosis, arthropathy, prognathism, and short stature]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2572/myhre-syndrome Myhre syndrome]
 
* '''[[Laryngotracheoesophageal cleft]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3188/laryngeal-cleft Laryngeal cleft]
 
* '''[[Laryngo-tracheo-esophageal cleft]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3188/laryngeal-cleft Laryngeal cleft]
 
* '''[[Laryngo-tracheo-esophageal diastema]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3188/laryngeal-cleft Laryngeal cleft]
 
* '''[https://rarediseases.info.nih.gov/diseases/3194/larynx-atresia Larynx atresia]
 
* '''[https://rarediseases.info.nih.gov/diseases/3192/larynx-congenital-partial-atresia-of Larynx, congenital partial atresia of]
 
* '''[[LATAIE disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13565/lrba-deficiency LRBA deficiency]
 
* '''[[Late hereditary endothelial dystrophy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10018/fuchs-endothelial-corneal-dystrophy Fuchs endothelial corneal dystrophy] ''- not a rare disease''
 
* '''[[Late onset Alzheimer disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12799/late-onset-familial-alzheimer-disease Late-Onset Familial Alzheimer Disease]
 
* '''[[Late onset familial Alzheimer disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12799/late-onset-familial-alzheimer-disease Late-Onset Familial Alzheimer Disease]
 
* '''[[Late onset scleroatonic familial myopathy (subtype)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4769/ullrich-congenital-muscular-dystrophy Ullrich congenital muscular dystrophy]
 
* '''[[Late-onset biotin-responsive multiple carboxylase deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/894/biotinidase-deficiency Biotinidase deficiency]
 
* '''[https://rarediseases.info.nih.gov/diseases/1886/late-onset-distal-myopathy-markesbery-griggs-type Late-onset distal myopathy, Markesbery-Griggs type]
 
* '''[https://rarediseases.info.nih.gov/diseases/12799/late-onset-familial-alzheimer-disease Late-Onset Familial Alzheimer Disease]
 
* '''[[Late-onset group B strep disease in newborns]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9786/group-b-strep-disease-in-newborns Group B strep disease in newborns]
 
* '''[[Late-onset junctional epidermolysis bullosa]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2152/junctional-epidermolysis-bullosa Junctional epidermolysis bullosa]
 
* '''[https://rarediseases.info.nih.gov/diseases/299/late-onset-localized-junctional-epidermolysis-bullosa-intellectual-disability-syndrome Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome]
 
* '''[[Late-onset multiple carboxylase deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/894/biotinidase-deficiency Biotinidase deficiency]
 
* '''[[Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9726/deafness-autosomal-dominant-nonsyndromic-sensorineural-17 Deafness, autosomal dominant nonsyndromic sensorineural 17]
 
* '''[https://rarediseases.info.nih.gov/diseases/4357/late-onset-retinal-degeneration Late-onset retinal degeneration]
 
* '''[[Lateral facial cleft, cleft lip and palate, anophthalmia, microtia, clavicular agenesis and asternia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/152/samson-viljoen-syndrome Samson Viljoen syndrome]
 
* '''[[Lateral femoral cutaneous nerve entrapment]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9417/meralgia-paresthetica Meralgia paresthetica]
 
* '''[[Lateral medullary syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9263/wallenberg-syndrome Wallenberg syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/9873/lateral-meningocele-syndrome Lateral meningocele syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/10067/lateral-semicircular-canal-malformation-familial-with-external-and-middle-ear-abnormalities Lateral semicircular canal malformation, familial, with external and middle ear abnormalities]
 
* '''[https://rarediseases.info.nih.gov/diseases/3198/laterality-defects-dominant Laterality defects dominant]
 
* '''[[Laterality, X-linked]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8591/x-linked-visceral-heterotaxy-1 X-linked visceral heterotaxy 1]
 
* '''[[Lateralization defect]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10875/heterotaxy Heterotaxy]
 
* '''[https://rarediseases.info.nih.gov/diseases/9711/lathosterolosis Lathosterolosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/10441/lathyrism Lathyrism]
 
* '''[https://rarediseases.info.nih.gov/diseases/9678/lattice-corneal-dystrophy-type-1 Lattice corneal dystrophy type 1]
 
* '''[https://rarediseases.info.nih.gov/diseases/10320/lattice-corneal-dystrophy-type-3a Lattice corneal dystrophy type 3A]
 
* '''[[Lattice corneal dystrophy type II Finnish]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2339/familial-amyloidosis-finnish-type Familial amyloidosis, Finnish type]
 
* '''[[Lattice corneal dystrophy type III A]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10320/lattice-corneal-dystrophy-type-3a Lattice corneal dystrophy type 3A]
 
* '''[[Lattice corneal dystrophy type3]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9647/amyloidosis-corneal Amyloidosis corneal]
 
* '''[[Laugier and Hunziker pigmentation]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9669/laugier-hunziker-syndrome Laugier-Hunziker syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/9669/laugier-hunziker-syndrome Laugier-Hunziker syndrome]
 
* '''[[Launois-Bensaude syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6957/multiple-symmetric-lipomatosis Multiple symmetric lipomatosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/12635/laurence-moon-syndrome Laurence-Moon syndrome]
 
* '''[[Laurin Sandrow syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/155/laurin-sandrow-syndrome Laurin-Sandrow syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/155/laurin-sandrow-syndrome Laurin-Sandrow syndrome]
 
* '''[[Lawrence syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12603/acquired-generalized-lipodystrophy Acquired generalized lipodystrophy]
 
* '''[[Lawrence-Seip syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12603/acquired-generalized-lipodystrophy Acquired generalized lipodystrophy]
 
* '''[[Laxova Brown Hogan syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3203/early-onset-parkinsonism-intellectual-disability-syndrome Early-onset parkinsonism-intellectual disability syndrome]
 
* '''[[Laxova-Opitz syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3203/early-onset-parkinsonism-intellectual-disability-syndrome Early-onset parkinsonism-intellectual disability syndrome]
 
* '''[[LBSL]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12652/leukoencephalopathy-with-brain-stem-and-spinal-cord-involvement-and-lactate-elevation Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation]
 
* '''[[LC]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3188/laryngeal-cleft Laryngeal cleft]
 
* '''[[LCA]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[LCA1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[LCA10]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[LCA11]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[LCA12]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[LCA13]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[LCA14]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[LCA15]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[LCA16]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[LCA2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[LCA3]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[LCA4]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[LCA5]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[LCA6]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[LCA7]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[LCA8]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[LCA9]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/9700/lcad-deficiency LCAD deficiency]
 
* '''[[LCATA deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6450/fish-eye-disease Fish-eye disease]
 
* '''[[LCC]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10732/leukoencephalopathy-cerebral-calcifications-and-cysts Leukoencephalopathy, cerebral calcifications, and cysts]
 
* '''[[LCCS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12643/lethal-congenital-contracture-syndrome Lethal congenital contracture syndrome]
 
* '''[[LCCS11]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13220/lethal-congenital-contracture-syndrome-11 Lethal congenital contracture syndrome 11]
 
* '''[[LCCS2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9177/lethal-congenital-contracture-syndrome-2 Lethal congenital contracture syndrome 2]
 
* '''[[LCCS3]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12643/lethal-congenital-contracture-syndrome Lethal congenital contracture syndrome]
 
* '''[[LCD1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9678/lattice-corneal-dystrophy-type-1 Lattice corneal dystrophy type 1]
 
* '''[[LCH]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6858/langerhans-cell-histiocytosis Langerhans cell histiocytosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/6867/lchad-deficiency LCHAD deficiency]
 
* '''[[L-CMD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9138/congenital-muscular-dystrophy Congenital muscular dystrophy]
 
* '''[[LCPD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6874/legg-calve-perthes-disease Legg-Calve-Perthes disease]
 
* '''[[L-CPT 1 deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1120/carnitine-palmitoyl-transferase-1a-deficiency Carnitine palmitoyl transferase 1A deficiency]
 
* '''[[L-CPT1 deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1120/carnitine-palmitoyl-transferase-1a-deficiency Carnitine palmitoyl transferase 1A deficiency]
 
* '''[[L-CPTI deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1120/carnitine-palmitoyl-transferase-1a-deficiency Carnitine palmitoyl transferase 1A deficiency]
 
* '''[[LCS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/370/aagenaes-syndrome Aagenaes syndrome]
 
* '''[[LCS1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/370/aagenaes-syndrome Aagenaes syndrome]
 
* '''[[LDH deficiency B]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3161/lactate-dehydrogenase-b-deficiency Lactate dehydrogenase B deficiency]
 
* '''[[LDHBD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3161/lactate-dehydrogenase-b-deficiency Lactate dehydrogenase B deficiency]
 
* '''[[LDHCP]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9990/lipoatrophy-with-diabetes-hepatic-steatosis-cardiomyopathy-and-leukomelanodermic-papules Lipoatrophy with diabetes, hepatic steatosis, cardiomyopathy, and leukomelanodermic papules]
 
* '''[[LDS3]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10997/loeys-dietz-syndrome-type-3 Loeys-Dietz syndrome type 3]
 
* '''[[LDYT]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8476/leber-hereditary-optic-neuropathy-with-dystonia Leber hereditary optic neuropathy with dystonia]
 
* '''[https://rarediseases.info.nih.gov/diseases/171/le-marec-bracq-picaud-syndrome Le Marec Bracq Picaud syndrome]
 
* '''[[Le Merrer syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5667/3m-syndrome 3M syndrome]
 
* '''[[Leaky Red cell syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10013/red-cell-phospholipid-defect-with-hemolysis Red cell phospholipid defect with hemolysis]
 
* '''[[Lean spastic dwarfism]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8589/coffin-syndrome-1 Coffin syndrome 1]
 
* '''[[Learman syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5077/symphalangism-with-multiple-anomalies-of-hands-and-feet Symphalangism with multiple anomalies of hands and feet]
 
* '''[https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[Leber congenital amaurosis 1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[Leber congenital amaurosis 10]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[Leber congenital amaurosis 11]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[Leber congenital amaurosis 12]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[Leber congenital amaurosis 13]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[Leber congenital amaurosis 14]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[Leber congenital amaurosis 15]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[Leber congenital amaurosis 16]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[Leber congenital amaurosis 2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[Leber congenital amaurosis 3]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[Leber congenital amaurosis 4]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[Leber congenital amaurosis 5]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[Leber congenital amaurosis 6]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[Leber congenital amaurosis 7]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[Leber congenital amaurosis 8]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[Leber congenital amaurosis 9]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[Leber congenital amaurosis type 1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[Leber congenital amaurosis type 10]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[Leber congenital amaurosis type 11]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[Leber congenital amaurosis type 12]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[Leber congenital amaurosis type 2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[Leber congenital amaurosis type 3]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[Leber congenital amaurosis type 4]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[Leber congenital amaurosis type 5]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[Leber congenital amaurosis type 6]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[Leber congenital amaurosis type 9]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/6870/leber-hereditary-optic-neuropathy Leber hereditary optic neuropathy]
 
* '''[https://rarediseases.info.nih.gov/diseases/8476/leber-hereditary-optic-neuropathy-with-dystonia Leber hereditary optic neuropathy with dystonia]
 
* '''[[Leber miliary aneurysm]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6121/coats-disease Coats disease]
 
* '''[[Leber optic atrophy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6870/leber-hereditary-optic-neuropathy Leber hereditary optic neuropathy]
 
* '''[[Leber optic atrophy and dystonia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8476/leber-hereditary-optic-neuropathy-with-dystonia Leber hereditary optic neuropathy with dystonia]
 
* '''[[Leber’s disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6870/leber-hereditary-optic-neuropathy Leber hereditary optic neuropathy]
 
* '''[[Leber's amaurosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[Leber's congenital tapetoretinal degeneration]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[Leber's congenital tapetoretinal dysplasia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis Leber congenital amaurosis]
 
* '''[[Leber's hereditary optic neuropathy with dystonia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8476/leber-hereditary-optic-neuropathy-with-dystonia Leber hereditary optic neuropathy with dystonia]
 
* '''[https://rarediseases.info.nih.gov/diseases/6873/ledderhose-disease Ledderhose disease]
 
* '''[[Lederhose disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6873/ledderhose-disease Ledderhose disease]
 
* '''[[Left renal vein entrapment syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/11971/renal-nutcracker-syndrome Renal nutcracker syndrome]
 
* '''[[Left ventricular hypertrabeculation]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10985/left-ventricular-noncompaction Left ventricular noncompaction]
 
* '''[https://rarediseases.info.nih.gov/diseases/10985/left-ventricular-noncompaction Left ventricular noncompaction]
 
* '''[[Left ventricular noncompaction 5]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2905/familial-dilated-cardiomyopathy Familial dilated cardiomyopathy]
 
* '''[[Left ventricular transient apical ballooning]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9400/broken-heart-syndrome Broken heart syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/9717/left-sided-gallbladder Left-sided gallbladder]
 
* '''[https://rarediseases.info.nih.gov/diseases/3214/leg-absence-deformity-cataract Leg absence deformity cataract]
 
* '''[https://rarediseases.info.nih.gov/diseases/6874/legg-calve-perthes-disease Legg-Calve-Perthes disease]
 
* '''[[Legg-Calve-Perthes syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6874/legg-calve-perthes-disease Legg-Calve-Perthes disease]
 
* '''[[Legionellosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6876/legionnaires-disease Legionnaires’ disease]
 
* '''[[Legionnaires disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6876/legionnaires-disease Legionnaires’ disease]
 
* '''[https://rarediseases.info.nih.gov/diseases/6876/legionnaires-disease Legionnaires’ disease]
 
* '''[https://rarediseases.info.nih.gov/diseases/10714/legius-syndrome Legius syndrome]
 
* '''[[Lehman syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9873/lateral-meningocele-syndrome Lateral meningocele syndrome]
 
* '''[[Leichtman Wood Rohn syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/719/anophthalmia-plus-syndrome Anophthalmia plus syndrome]
 
* '''[[Leigh disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6877/leigh-syndrome Leigh syndrome]
 
* '''[[Leigh disease, maternally inherited]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3671/mitochondrial-dna-associated-leigh-syndrome Mitochondrial DNA-associated Leigh syndrome]
 
* '''[[Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7512/pyruvate-carboxylase-deficiency Pyruvate carboxylase deficiency]
 
* '''[https://rarediseases.info.nih.gov/diseases/6877/leigh-syndrome Leigh syndrome]
 
* '''[[Leigh syndrome due to pyruvate carboxylase deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7512/pyruvate-carboxylase-deficiency Pyruvate carboxylase deficiency]
 
* '''[https://rarediseases.info.nih.gov/diseases/8370/leigh-syndrome-french-canadian-type Leigh syndrome, French Canadian type]
 
* '''[[Leigh syndrome, Saguenay Lac saint Jean type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8370/leigh-syndrome-french-canadian-type Leigh syndrome, French Canadian type]
 
* '''[[Leigh's disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6877/leigh-syndrome Leigh syndrome]
 
* '''[[Leigh's necrotizing encephalopathy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6877/leigh-syndrome Leigh syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/6878/leiner-disease Leiner disease]
 
* '''[https://rarediseases.info.nih.gov/diseases/10097/leiomyoma-of-vulva-and-esophagus Leiomyoma of vulva and esophagus]
 
* '''[https://rarediseases.info.nih.gov/diseases/3218/leiomyomatosis-familial Leiomyomatosis familial]
 
* '''[https://rarediseases.info.nih.gov/diseases/3219/leiomyomatosis-of-esophagus-cataract-and-hematuria Leiomyomatosis of esophagus, cataract and hematuria]
 
* '''[[Leiomyomatosis peritonealis disseminate]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12843/disseminated-peritoneal-leiomyomatosis Disseminated peritoneal leiomyomatosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/2432/leiomyomatosis-esophageal-and-vulval-with-nephropathy Leiomyomatosis, esophageal and vulval, with nephropathy]
 
* '''[[Leiomyomatosis, esophagogastric and vulvar]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10097/leiomyoma-of-vulva-and-esophagus Leiomyoma of vulva and esophagus]
 
* '''[https://rarediseases.info.nih.gov/diseases/6880/leiomyosarcoma Leiomyosarcoma]
 
* '''[https://rarediseases.info.nih.gov/diseases/6881/leishmaniasis Leishmaniasis]
 
* '''[https://rarediseases.info.nih.gov/diseases/10367/lelis-syndrome Lelis syndrome]
 
* '''[[Lemierre postanginal sepsis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6882/lemierre-syndrome Lemierre syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/6882/lemierre-syndrome Lemierre syndrome]
 
* '''[[Lemierre’s syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6882/lemierre-syndrome Lemierre syndrome]
 
* '''[[Lemming fever]]'''
 
See [https://rarediseases.info.nih.gov/diseases/396/tularemia Tularemia]
 
* '''[[LEMS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6851/lambert-eaton-myasthenic-syndrome Lambert Eaton myasthenic syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/9912/lennox-gastaut-syndrome Lennox-Gastaut syndrome]
 
* '''[[Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, Deafnes]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1100/leopard-syndrome LEOPARD syndrome]
 
* '''[[Lentiginosis, perioral]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7378/peutz-jeghers-syndrome Peutz-Jeghers syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/9962/lentigo-maligna-melanoma Lentigo maligna melanoma]
 
* '''[[Lenz dysplasia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/87/lenz-microphthalmia-syndrome Lenz microphthalmia syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3223/lenz-majewski-hyperostotic-dwarfism Lenz Majewski hyperostotic dwarfism]
 
* '''[https://rarediseases.info.nih.gov/diseases/87/lenz-microphthalmia-syndrome Lenz microphthalmia syndrome]
 
* '''[[Lenz-Majewski hyperostotic dysplasia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3223/lenz-majewski-hyperostotic-dwarfism Lenz Majewski hyperostotic dwarfism]
 
* '''[[Lenz-Majewski syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3223/lenz-majewski-hyperostotic-dwarfism Lenz Majewski hyperostotic dwarfism]
 
* '''[https://rarediseases.info.nih.gov/diseases/1100/leopard-syndrome LEOPARD syndrome]
 
* '''[[LEPD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13015/obesity-due-to-congenital-leptin-deficiency Obesity due to congenital leptin deficiency]
 
* '''[https://rarediseases.info.nih.gov/diseases/6885/leprechaunism Leprechaunism]
 
* '''[[Leprosy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6886/hansens-disease Hansen's disease]
 
* '''[[Leptin deficiency or dysfunction]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13015/obesity-due-to-congenital-leptin-deficiency Obesity due to congenital leptin deficiency]
 
* '''[[Leptomeningeal angiomatosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7706/sturge-weber-syndrome Sturge-Weber syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/7881/leptospirosis Leptospirosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/88/leri-pleonosteosis Leri pleonosteosis]
 
* '''[[Leri type pleonosteosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/88/leri-pleonosteosis Leri pleonosteosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/3224/leri-weill-dyschondrosteosis Leri Weill dyschondrosteosis]
 
* '''[[Leri's pleonosteosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/88/leri-pleonosteosis Leri pleonosteosis]
 
* '''[[Léri-Weill dyschondrosteosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3224/leri-weill-dyschondrosteosis Leri Weill dyschondrosteosis]
 
* '''[[Leroy Disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6749/i-cell-disease I cell disease]
 
* '''[[Lesch Nyhan disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7226/lesch-nyhan-syndrome Lesch Nyhan syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/7226/lesch-nyhan-syndrome Lesch Nyhan syndrome]
 
* '''[[Lesch-Nyhan syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7226/lesch-nyhan-syndrome Lesch Nyhan syndrome]
 
* '''[[Lethal acrodysgenital syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5683/smith-lemli-opitz-syndrome Smith-Lemli-Opitz syndrome]
 
* '''[[Lethal ataxia with deafness and optic atrophy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8756/arts-syndrome Arts syndrome]
 
* '''[[Lethal ataxia-deafness-optic atrophy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8756/arts-syndrome Arts syndrome]
 
* '''[[Lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system]]'''
 
See [https://rarediseases.info.nih.gov/diseases/792/arthrogryposis-multiplex-congenita-whistling-face Arthrogryposis multiplex congenita whistling face]
 
* '''[[Lethal autosomal recessive syndrome of multiple congenital contractures]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3227/lethal-congenital-contracture-syndrome-1 Lethal congenital contracture syndrome 1]
 
* '''[https://rarediseases.info.nih.gov/diseases/3225/lethal-chondrodysplasia-moerman-type Lethal chondrodysplasia Moerman type]
 
* '''[https://rarediseases.info.nih.gov/diseases/3226/lethal-chondrodysplasia-seller-type Lethal chondrodysplasia Seller type]
 
* '''[[Lethal congenital contracture arthrogryposis-11]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13220/lethal-congenital-contracture-syndrome-11 Lethal congenital contracture syndrome 11]
 
* '''[https://rarediseases.info.nih.gov/diseases/12643/lethal-congenital-contracture-syndrome Lethal congenital contracture syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3227/lethal-congenital-contracture-syndrome-1 Lethal congenital contracture syndrome 1]
 
* '''[https://rarediseases.info.nih.gov/diseases/13220/lethal-congenital-contracture-syndrome-11 Lethal congenital contracture syndrome 11]
 
* '''[https://rarediseases.info.nih.gov/diseases/9177/lethal-congenital-contracture-syndrome-2 Lethal congenital contracture syndrome 2]
 
* '''[[Lethal congenital contracture syndrome 3]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12643/lethal-congenital-contracture-syndrome Lethal congenital contracture syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/12645/lethal-congenital-contracture-syndrome-4 Lethal congenital contracture syndrome 4]
 
* '''[[Lethal congenital contracture syndrome type 3]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12643/lethal-congenital-contracture-syndrome Lethal congenital contracture syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/10728/lethal-congenital-glycogen-storage-disease-of-the-heart Lethal congenital glycogen storage disease of the heart] ''- not a rare disease''
 
* '''[[Lethal congenital neutropenia with eosinophilia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6107/neutropenia-lethal-congenital-with-eosinophilia Neutropenia lethal congenital with eosinophilia]
 
* '''[[Lethal Kniest-like dysplasia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3124/kniest-like-dysplasia-lethal Kniest like dysplasia lethal]
 
* '''[[Lethal metaphyseal dysplasia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4993/spondylometaphyseal-dysplasia-sedaghatian-type Spondylometaphyseal dysplasia Sedaghatian type]
 
* '''[[Lethal midline granuloma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13270/extranodal-nasal-nkt-cell-lymphoma Extranodal nasal NK/T cell lymphoma]
 
* '''[[Lethal multiple pterygium syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3834/multiple-pterygium-syndrome-lethal-type Multiple pterygium syndrome lethal type]
 
* '''[[Lethal neonatal short limb dwarfism]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4827/lethal-short-limb-skeletal-dysplasia-al-gazali-type Lethal short limb skeletal dysplasia Al Gazali type]
 
* '''[[Lethal omphalocele-cleft palate syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4079/omphalocele-cleft-palate-syndrome-lethal Omphalocele cleft palate syndrome lethal]
 
* '''[[Lethal osteogenesis imperfecta]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10142/osteogenesis-imperfecta-type-ii Osteogenesis imperfecta type II]
 
* '''[[Lethal osteosclerotic bone dysplasia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/282/raine-syndrome Raine syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/4827/lethal-short-limb-skeletal-dysplasia-al-gazali-type Lethal short limb skeletal dysplasia Al Gazali type]
 
* '''[[Lethal short-limbed platyspondylic dwarfism Torrance type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4382/platyspondylic-lethal-skeletal-dysplasia-torrance-type Platyspondylic lethal skeletal dysplasia Torrance type]
 
* '''[https://rarediseases.info.nih.gov/diseases/9915/leucine-sensitive-hypoglycemia-of-infancy Leucine-sensitive hypoglycemia of infancy]
 
* '''[https://rarediseases.info.nih.gov/diseases/9544/leucocyte-adhesion-defect Leucocyte adhesion defect]
 
* '''[https://rarediseases.info.nih.gov/diseases/6892/leukemia-subleukemic Leukemia subleukemic]
 
* '''[[Leukemia, B cell prolymphocytic]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8223/b-cell-prolymphocytic-leukemia B cell prolymphocytic leukemia]
 
* '''[https://rarediseases.info.nih.gov/diseases/8227/leukemia-b-cell-chronic Leukemia, B-cell, chronic]
 
* '''[[Leukemia, chronic myeloid]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6105/chronic-myeloid-leukemia Chronic myeloid leukemia]
 
* '''[[Leukemia, juvenile myelomonocytic]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9884/juvenile-myelomonocytic-leukemia Juvenile myelomonocytic leukemia]
 
* '''[[Leukemia, lymphocytic, chronic]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6104/chronic-lymphocytic-leukemia Chronic lymphocytic leukemia]
 
* '''[[Leukemia, myelomonocytic, chronic]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8225/chronic-myelomonocytic-leukemia Chronic myelomonocytic leukemia]
 
* '''[[Leukemia, plasma cell]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9373/plasma-cell-leukemia Plasma cell leukemia]
 
* '''[https://rarediseases.info.nih.gov/diseases/8224/leukemia-t-cell-chronic Leukemia, T-cell, chronic]
 
* '''[[Leukemic reticuloendotheliosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6560/hairy-cell-leukemia Hairy cell leukemia]
 
* '''[https://rarediseases.info.nih.gov/diseases/6893/leukocyte-adhesion-deficiency-type-1 Leukocyte adhesion deficiency type 1]
 
* '''[[Leukocyte adhesion deficiency type 2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4634/slc35c1-cdg-cdg-iic SLC35C1-CDG (CDG-IIc)]
 
* '''[[Leukocyte adhesion deficiency type I]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6893/leukocyte-adhesion-deficiency-type-1 Leukocyte adhesion deficiency type 1]
 
* '''[[Leukocytoclastic angiitis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7851/hypersensitivity-vasculitis Hypersensitivity vasculitis]
 
* '''[[Leukoderma acquisitum centrifugum of Sutton]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9421/halo-nevi Halo nevi]
 
* '''[https://rarediseases.info.nih.gov/diseases/6895/leukodystrophy Leukodystrophy]
 
* '''[[Leukodystrophy metachromatic]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3230/metachromatic-leukodystrophy Metachromatic leukodystrophy]
 
* '''[[Leukodystrophy, demyelinating, adult-onset, autosomal dominant]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10587/autosomal-dominant-leukodystrophy-with-autonomic-disease Autosomal dominant leukodystrophy with autonomic disease]
 
* '''[https://rarediseases.info.nih.gov/diseases/10538/leukodystrophy-dysmyelinating-and-spastic-paraparesis-with-or-without-dystonia Leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia]
 
* '''[https://rarediseases.info.nih.gov/diseases/4266/leukodystrophy-hypomyelinating-3 Leukodystrophy, hypomyelinating 3]
 
* '''[[Leukodystrophy, hypomyelinating, 5]]'''
 
See [https://rarediseases.info.nih.gov/diseases/11980/hypomyelination-and-congenital-cataract Hypomyelination and congenital cataract]
 
* '''[[Leukodystrophy, hypomyelinating, 6]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10917/hypomyelination-with-atrophy-of-basal-ganglia-and-cerebellum Hypomyelination with atrophy of basal ganglia and cerebellum]
 
* '''[[Leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10917/hypomyelination-with-atrophy-of-basal-ganglia-and-cerebellum Hypomyelination with atrophy of basal ganglia and cerebellum]
 
* '''[https://rarediseases.info.nih.gov/diseases/8395/leukodystrophy-pseudometachromatic Leukodystrophy, pseudometachromatic]
 
* '''[https://rarediseases.info.nih.gov/diseases/12471/leukoencephalopathy---dystonia---motor-neuropathy Leukoencephalopathy - dystonia - motor neuropathy]
 
* '''[https://rarediseases.info.nih.gov/diseases/3232/leukoencephalopathy-palmoplantar-keratoderma Leukoencephalopathy palmoplantar keratoderma]
 
* '''[[Leukoencephalopathy with brain stem and spinal cord involvement - high lactate]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12652/leukoencephalopathy-with-brain-stem-and-spinal-cord-involvement-and-lactate-elevation Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation]
 
* '''[[Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12652/leukoencephalopathy-with-brain-stem-and-spinal-cord-involvement-and-lactate-elevation Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation]
 
* '''[https://rarediseases.info.nih.gov/diseases/12652/leukoencephalopathy-with-brain-stem-and-spinal-cord-involvement-and-lactate-elevation Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation]
 
* '''[[Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12652/leukoencephalopathy-with-brain-stem-and-spinal-cord-involvement-and-lactate-elevation Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation]
 
* '''[[Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12652/leukoencephalopathy-with-brain-stem-and-spinal-cord-involvement-and-lactate-elevation Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation]
 
* '''[[Leukoencephalopathy with dystonia and motor neuropathy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12471/leukoencephalopathy---dystonia---motor-neuropathy Leukoencephalopathy - dystonia - motor neuropathy]
 
* '''[[Leukoencephalopathy with swelling and cysts]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3445/megalencephalic-leukoencephalopathy-with-subcortical-cysts Megalencephalic leukoencephalopathy with subcortical cysts]
 
* '''[https://rarediseases.info.nih.gov/diseases/13381/leukoencephalopathy-with-thalamus-and-brainstem-involvement-and-high-lactate Leukoencephalopathy with thalamus and brainstem involvement and high lactate]
 
* '''[https://rarediseases.info.nih.gov/diseases/231/leukoencephalopathy-with-vanishing-white-matter Leukoencephalopathy with vanishing white matter]
 
* '''[https://rarediseases.info.nih.gov/diseases/10065/leukoencephalopathy-arthritis-colitis-and-hypogammaglobulinema Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema]
 
* '''[https://rarediseases.info.nih.gov/diseases/10732/leukoencephalopathy-cerebral-calcifications-and-cysts Leukoencephalopathy, cerebral calcifications, and cysts]
 
* '''[[Leukoencephalopathy, cystic, without megalencephaly]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13199/rnase-t2-deficient-leukoencephalopathy RNAse T2-deficient leukoencephalopathy]
 
* '''[[Leukoencephalopathy, diffuse hereditary, with spheroids]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10981/hereditary-diffuse-leukoencephalopathy-with-spheroids Hereditary diffuse leukoencephalopathy with spheroids]
 
* '''[[Leukoencephalopathy, progressive multifocal]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7468/progressive-multifocal-leukoencephalopathy Progressive multifocal leukoencephalopathy]
 
* '''[[Leukoencephalopathy-dystonia-motor neuropathy syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12471/leukoencephalopathy---dystonia---motor-neuropathy Leukoencephalopathy - dystonia - motor neuropathy]
 
* '''[[Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13381/leukoencephalopathy-with-thalamus-and-brainstem-involvement-and-high-lactate Leukoencephalopathy with thalamus and brainstem involvement and high lactate]
 
* '''[[Leukokeratosis, hereditary mucosal]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8501/white-sponge-nevus-of-cannon White sponge nevus of cannon]
 
* '''[https://rarediseases.info.nih.gov/diseases/9759/leukonychia-totalis Leukonychia totalis]
 
* '''[[Leukopenia benign familial]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3983/neutropenia-chronic-familial Neutropenia chronic familial]
 
* '''[https://rarediseases.info.nih.gov/diseases/6897/leukoplakia Leukoplakia]
 
* '''[[Levator ani spasm syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6899/levator-syndrome Levator syndrome]
 
* '''[[Levator ani syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6899/levator-syndrome Levator syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/6899/levator-syndrome Levator syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3236/levic-stefanovic-nikolic-syndrome Levic Stefanovic Nikolic syndrome]
 
* '''[[Levic-Stefanovic-Nikolic syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3236/levic-stefanovic-nikolic-syndrome Levic Stefanovic Nikolic syndrome]
 
* '''[[Levin syndrome 1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/359/cranioectodermal-dysplasia Cranioectodermal dysplasia]
 
* '''[[Levin syndrome 2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8698/osteogenesis-imperfecta-levin-type Osteogenesis imperfecta Levin type]
 
* '''[https://rarediseases.info.nih.gov/diseases/9713/levotransposition-of-the-great-arteries Levotransposition of the great arteries]
 
* '''[[Levy Hollister syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6848/lacrimo-auriculo-dento-digital-syndrome Lacrimo-auriculo-dento-digital syndrome]
 
* '''[[Lewandowsky-Lutz syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6357/epidermodysplasia-verruciformis Epidermodysplasia verruciformis]
 
* '''[https://rarediseases.info.nih.gov/diseases/13070/lewis-sumner-syndrome Lewis-Sumner syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3243/lewy-body-dementia Lewy body dementia] ''- not a rare disease''
 
* '''[[Lewy body disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3243/lewy-body-dementia Lewy body dementia] ''- not a rare disease''
 
* '''[[Leyden-Moebius muscular dystrophy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1057/limb-girdle-muscular-dystrophy-type-2a Limb-girdle muscular dystrophy type 2A]
 
* '''[[Leydig cell agenesis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3244/leydig-cell-hypoplasia Leydig cell hypoplasia]
 
* '''[https://rarediseases.info.nih.gov/diseases/3244/leydig-cell-hypoplasia Leydig cell hypoplasia]
 
* '''[[LFA 1 immunodeficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6893/leukocyte-adhesion-deficiency-type-1 Leukocyte adhesion deficiency type 1]
 
* '''[[LFS1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6902/li-fraumeni-syndrome Li-Fraumeni syndrome]
 
* '''[[LGL leukemia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9812/large-granular-lymphocyte-leukemia Large granular lymphocyte leukemia]
 
* '''[[LGMD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy Limb-girdle muscular dystrophy]
 
* '''[[LGMD1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10229/limb-girdle-muscular-dystrophy-type-1a Limb-girdle muscular dystrophy type 1A]
 
* '''[[LGMD1A]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10229/limb-girdle-muscular-dystrophy-type-1a Limb-girdle muscular dystrophy type 1A]
 
* '''[[LGMD1B]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10230/limb-girdle-muscular-dystrophy-type-1b Limb-girdle muscular dystrophy type 1B]
 
* '''[[LGMD1C]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy Limb-girdle muscular dystrophy]
 
* '''[[LGMD1D]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy Limb-girdle muscular dystrophy]
 
* '''[[LGMD1E]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy Limb-girdle muscular dystrophy]
 
* '''[[LGMD1F]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy Limb-girdle muscular dystrophy]
 
* '''[[LGMD1G]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy Limb-girdle muscular dystrophy]
 
* '''[[LGMD1H]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy Limb-girdle muscular dystrophy]
 
* '''[[LGMD2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1057/limb-girdle-muscular-dystrophy-type-2a Limb-girdle muscular dystrophy type 2A]
 
* '''[[LGMD2A]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1057/limb-girdle-muscular-dystrophy-type-2a Limb-girdle muscular dystrophy type 2A]
 
* '''[[LGMD2B]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8574/limb-girdle-muscular-dystrophy-type-2b Limb-girdle muscular dystrophy type 2B]
 
* '''[[LGMD2C]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2429/limb-girdle-muscular-dystrophy-type-2c Limb-girdle muscular dystrophy, type 2C]
 
* '''[[LGMD2D]]'''
 
See [https://rarediseases.info.nih.gov/diseases/438/limb-girdle-muscular-dystrophy-type-2d Limb-girdle muscular dystrophy, type 2D]
 
* '''[[LGMD2E]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3851/limb-girdle-muscular-dystrophy-type-2e Limb-girdle muscular dystrophy type 2E]
 
* '''[[LGMD2F]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8573/limb-girdle-muscular-dystrophy-type-2f Limb-girdle muscular dystrophy type 2F]
 
* '''[[LGMD2G]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10471/limb-girdle-muscular-dystrophy-type-2g Limb-girdle muscular dystrophy, type 2G]
 
* '''[[LGMD2H]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3844/limb-girdle-muscular-dystrophy-type-2h Limb-girdle muscular dystrophy type 2H]
 
* '''[[LGMD2I]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12533/limb-girdle-muscular-dystrophy-type-2i Limb-girdle muscular dystrophy type 2I]
 
* '''[[LGMD2J]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy Limb-girdle muscular dystrophy]
 
* '''[[LGMD2K]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy Limb-girdle muscular dystrophy]
 
* '''[[LGMD2L]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy Limb-girdle muscular dystrophy]
 
* '''[[LGMD2M]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy Limb-girdle muscular dystrophy]
 
* '''[[LGMD2N]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy Limb-girdle muscular dystrophy]
 
* '''[[LGMD2O]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy Limb-girdle muscular dystrophy]
 
* '''[[LGMD2P]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10229/limb-girdle-muscular-dystrophy-type-1a Limb-girdle muscular dystrophy type 1A]
 
* '''[[LGMD2Q]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy Limb-girdle muscular dystrophy]
 
* '''[[LGMD2S]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy Limb-girdle muscular dystrophy]
 
* '''[[LGMD2T]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy Limb-girdle muscular dystrophy]
 
* '''[[LGMD3]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8574/limb-girdle-muscular-dystrophy-type-2b Limb-girdle muscular dystrophy type 2B]
 
* '''[[LGS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7801/trichorhinophalangeal-syndrome-type-2 Trichorhinophalangeal syndrome type 2]
 
* '''[[LGV]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9545/lymphogranuloma-venereum Lymphogranuloma venereum]
 
* '''[[LH]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10349/lymphocytic-hypophysitis Lymphocytic hypophysitis]
 
* '''[[LH resistance due to LH receptor deactivation]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3244/leydig-cell-hypoplasia Leydig cell hypoplasia]
 
* '''[https://rarediseases.info.nih.gov/diseases/6901/lhermitte-duclos-disease Lhermitte-Duclos disease]
 
* '''[[LHON]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6870/leber-hereditary-optic-neuropathy Leber hereditary optic neuropathy]
 
* '''[[LHON and dystonia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8476/leber-hereditary-optic-neuropathy-with-dystonia Leber hereditary optic neuropathy with dystonia]
 
* '''[[LHRH deficiency and ataxia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3314/cerebellar-ataxia-and-hypogonadotropic-hypogonadism Cerebellar ataxia and hypogonadotropic hypogonadism]
 
* '''[[LHS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9669/laugier-hunziker-syndrome Laugier-Hunziker syndrome]
 
* '''[[LI]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10803/lamellar-ichthyosis Lamellar ichthyosis]
 
* '''[[Li Fraumeni syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6902/li-fraumeni-syndrome Li-Fraumeni syndrome]
 
* '''[[LI1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3170/ichthyosis-lamellar-1 Ichthyosis lamellar 1]
 
* '''[[LI2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9733/ichthyosis-lamellar-2 Ichthyosis lamellar 2]
 
* '''[[Lichen amyloidosis familial]]'''
 
See [https://rarediseases.info.nih.gov/diseases/132/primary-cutaneous-amyloidosis Primary cutaneous amyloidosis]
 
* '''[[Lichen follicularis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3247/lichen-planopilaris Lichen planopilaris]
 
* '''[[Lichen myxedematosus]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7321/papular-mucinosis Papular mucinosis]
 
* '''[[Lichen myxoedematosus]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7321/papular-mucinosis Papular mucinosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/3247/lichen-planopilaris Lichen planopilaris]
 
* '''[[Lichen planopilaris classic type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3247/lichen-planopilaris Lichen planopilaris]
 
* '''[[Lichen planus actinus]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12673/actinic-lichen-planus Actinic lichen planus]
 
* '''[[Lichen planus follicularis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3247/lichen-planopilaris Lichen planopilaris]
 
* '''[https://rarediseases.info.nih.gov/diseases/12677/lichen-planus-pemphigoides Lichen planus pemphigoides]
 
* '''[[Lichen planus pigmentosa]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10816/lichen-planus-pigmentosus Lichen planus pigmentosus]
 
* '''[https://rarediseases.info.nih.gov/diseases/10816/lichen-planus-pigmentosus Lichen planus pigmentosus]
 
* '''[[Lichen planus pigmentosus inversus]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10816/lichen-planus-pigmentosus Lichen planus pigmentosus]
 
* '''[[Lichen planus subtropicus]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12673/actinic-lichen-planus Actinic lichen planus]
 
* '''[[Lichen planus tropicus]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12673/actinic-lichen-planus Actinic lichen planus]
 
* '''[[Lichen sclerosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6905/lichen-sclerosus Lichen sclerosus]
 
* '''[[Lichen sclerosis et atrophicus]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6905/lichen-sclerosus Lichen sclerosus]
 
* '''[https://rarediseases.info.nih.gov/diseases/6905/lichen-sclerosus Lichen sclerosus]
 
* '''[[Lichen sclerosus et atrophicus]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6905/lichen-sclerosus Lichen sclerosus]
 
* '''[[Lichenoid melanodermatitis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12673/actinic-lichen-planus Actinic lichen planus]
 
* '''[https://rarediseases.info.nih.gov/diseases/3248/lichtenstein-syndrome Lichtenstein syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/7381/liddle-syndrome Liddle syndrome]
 
* '''[[Liddle's syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7381/liddle-syndrome Liddle syndrome]
 
* '''[[Liebenberg syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/966/brachydactyly-elbow-wrist-dysplasia Brachydactyly elbow wrist dysplasia]
 
* '''[https://rarediseases.info.nih.gov/diseases/6902/li-fraumeni-syndrome Li-Fraumeni syndrome]
 
* '''[[Light chain amyloidosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5797/al-amyloidosis AL amyloidosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/6906/light-chain-deposition-disease Light chain deposition disease]
 
* '''[[Light-chain deposition disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6906/light-chain-deposition-disease Light chain deposition disease]
 
* '''[https://rarediseases.info.nih.gov/diseases/6187/ligneous-conjunctivitis Ligneous conjunctivitis]
 
* '''[[Limb body wall complex]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3251/limb-body-wall-complex Limb-body wall complex]
 
* '''[https://rarediseases.info.nih.gov/diseases/3252/limb-deficiencies-distal-with-micrognathia Limb deficiencies distal with micrognathia]
 
* '''[[Limb deficiency-heart malformation syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2622/fibular-aplasia-tibial-campomelia-and-oligosyndactyly-syndrome Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome]
 
* '''[[Limb girdle muscular dystrophy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy Limb-girdle muscular dystrophy]
 
* '''[[Limb scalp and skull defects]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5739/adams-oliver-syndrome Adams-Oliver syndrome]
 
* '''[[Limb uterus syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2908/hypomelia-mullerian-duct-anomalies Hypomelia mullerian duct anomalies]
 
* '''[[Limb, scalp and skull defects]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5739/adams-oliver-syndrome Adams-Oliver syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3251/limb-body-wall-complex Limb-body wall complex]
 
* '''[https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy Limb-girdle muscular dystrophy]
 
* '''[[Limb-girdle muscular dystrophy - intellectual disability]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy Limb-girdle muscular dystrophy]
 
* '''[[Limb-girdle muscular dystrophy due to caveolin-3 deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy Limb-girdle muscular dystrophy]
 
* '''[[Limb-girdle muscular dystrophy due to FKRP deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12533/limb-girdle-muscular-dystrophy-type-2i Limb-girdle muscular dystrophy type 2I]
 
* '''[[Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2429/limb-girdle-muscular-dystrophy-type-2c Limb-girdle muscular dystrophy, type 2C]
 
* '''[https://rarediseases.info.nih.gov/diseases/10229/limb-girdle-muscular-dystrophy-type-1a Limb-girdle muscular dystrophy type 1A]
 
* '''[https://rarediseases.info.nih.gov/diseases/10230/limb-girdle-muscular-dystrophy-type-1b Limb-girdle muscular dystrophy type 1B]
 
* '''[[Limb-girdle muscular dystrophy type 1C]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy Limb-girdle muscular dystrophy]
 
* '''[[Limb-girdle muscular dystrophy type 1D]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy Limb-girdle muscular dystrophy]
 
* '''[[Limb-girdle muscular dystrophy type 1E]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy Limb-girdle muscular dystrophy]
 
* '''[[Limb-girdle muscular dystrophy type 1F]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy Limb-girdle muscular dystrophy]
 
* '''[[Limb-girdle muscular dystrophy type 1G]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy Limb-girdle muscular dystrophy]
 
* '''[[Limb-girdle muscular dystrophy type 1H]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy Limb-girdle muscular dystrophy]
 
* '''[[Limb-girdle muscular dystrophy type 2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1057/limb-girdle-muscular-dystrophy-type-2a Limb-girdle muscular dystrophy type 2A]
 
* '''[https://rarediseases.info.nih.gov/diseases/1057/limb-girdle-muscular-dystrophy-type-2a Limb-girdle muscular dystrophy type 2A]
 
* '''[https://rarediseases.info.nih.gov/diseases/8574/limb-girdle-muscular-dystrophy-type-2b Limb-girdle muscular dystrophy type 2B]
 
* '''[https://rarediseases.info.nih.gov/diseases/3851/limb-girdle-muscular-dystrophy-type-2e Limb-girdle muscular dystrophy type 2E]
 
* '''[https://rarediseases.info.nih.gov/diseases/8573/limb-girdle-muscular-dystrophy-type-2f Limb-girdle muscular dystrophy type 2F]
 
* '''[https://rarediseases.info.nih.gov/diseases/3844/limb-girdle-muscular-dystrophy-type-2h Limb-girdle muscular dystrophy type 2H]
 
* '''[https://rarediseases.info.nih.gov/diseases/12533/limb-girdle-muscular-dystrophy-type-2i Limb-girdle muscular dystrophy type 2I]
 
* '''[[Limb-girdle muscular dystrophy type 2J]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy Limb-girdle muscular dystrophy]
 
* '''[[Limb-girdle muscular dystrophy type 2K]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy Limb-girdle muscular dystrophy]
 
* '''[[Limb-girdle muscular dystrophy type 2L]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy Limb-girdle muscular dystrophy]
 
* '''[[Limb-girdle muscular dystrophy type 2M]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy Limb-girdle muscular dystrophy]
 
* '''[[Limb-girdle muscular dystrophy type 2N]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy Limb-girdle muscular dystrophy]
 
* '''[[Limb-girdle muscular dystrophy type 2O]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy Limb-girdle muscular dystrophy]
 
* '''[[Limb-girdle muscular dystrophy type 2P]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10229/limb-girdle-muscular-dystrophy-type-1a Limb-girdle muscular dystrophy type 1A]
 
* '''[[Limb-girdle muscular dystrophy type 2Q]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy Limb-girdle muscular dystrophy]
 
* '''[[Limb-girdle muscular dystrophy type 2S]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy Limb-girdle muscular dystrophy]
 
* '''[[Limb-girdle muscular dystrophy type 2T]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy Limb-girdle muscular dystrophy]
 
* '''[[Limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2429/limb-girdle-muscular-dystrophy-type-2c Limb-girdle muscular dystrophy, type 2C]
 
* '''[[Limb-girdle muscular dystrophy with Paget disease of bone]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10899/inclusion-body-myopathy-with-early-onset-paget-disease-and-frontotemporal-dementia Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia]
 
* '''[[Limb-girdle muscular dystrophy, type 1G]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy Limb-girdle muscular dystrophy]
 
* '''[https://rarediseases.info.nih.gov/diseases/2429/limb-girdle-muscular-dystrophy-type-2c Limb-girdle muscular dystrophy, type 2C]
 
* '''[https://rarediseases.info.nih.gov/diseases/438/limb-girdle-muscular-dystrophy-type-2d Limb-girdle muscular dystrophy, type 2D]
 
* '''[https://rarediseases.info.nih.gov/diseases/10471/limb-girdle-muscular-dystrophy-type-2g Limb-girdle muscular dystrophy, type 2G]
 
* '''[[Limb-girdle muscular dystrophy-intellectual disability syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy Limb-girdle muscular dystrophy]
 
* '''[https://rarediseases.info.nih.gov/diseases/8742/limbic-encephalitis Limbic encephalitis]
 
* '''[[Limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13406/limbic-encephalitis-with-lgi1-antibodies Limbic encephalitis with LGI1 antibodies]
 
* '''[https://rarediseases.info.nih.gov/diseases/13406/limbic-encephalitis-with-lgi1-antibodies Limbic encephalitis with LGI1 antibodies]
 
* '''[https://rarediseases.info.nih.gov/diseases/10051/limb-mammary-syndrome Limb-mammary syndrome]
 
* '''[[Limit dextrinosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9442/glycogen-storage-disease-type-3 Glycogen storage disease type 3]
 
* '''[[Limited cutaneous systemic scleroderma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1053/limited-cutaneous-systemic-sclerosis Limited cutaneous systemic sclerosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/1053/limited-cutaneous-systemic-sclerosis Limited cutaneous systemic sclerosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/9749/limited-systemic-sclerosis Limited systemic sclerosis]
 
* '''[[Linear and whorled hypermelanosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/11004/linear-and-whorled-nevoid-hypermelanosis Linear and whorled nevoid hypermelanosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/11004/linear-and-whorled-nevoid-hypermelanosis Linear and whorled nevoid hypermelanosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/3259/linear-hamartoma-syndrome Linear hamartoma syndrome]
 
* '''[[Linear IgA bullous dermatosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10960/linear-iga-disease Linear IgA disease]
 
* '''[[Linear IgA dermatosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10960/linear-iga-disease Linear IgA disease]
 
* '''[https://rarediseases.info.nih.gov/diseases/10960/linear-iga-disease Linear IgA disease]
 
* '''[[Linear immunoglobulin A (IgA) dermatosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10960/linear-iga-disease Linear IgA disease]
 
* '''[https://rarediseases.info.nih.gov/diseases/11898/linear-lichen-planus Linear lichen planus]
 
* '''[[Linear LP]]'''
 
See [https://rarediseases.info.nih.gov/diseases/11898/linear-lichen-planus Linear lichen planus]
 
* '''[https://rarediseases.info.nih.gov/diseases/10291/linear-nevus-sebaceous-syndrome Linear nevus sebaceous syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/9515/linear-porokeratosis Linear porokeratosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/9513/linear-scleroderma Linear scleroderma]
 
* '''[[Linear skin defects with multiple congenital anomalies 1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3659/microphthalmia-with-linear-skin-defects-syndrome Microphthalmia with linear skin defects syndrome]
 
* '''[[Linear verrucose epidermal nevus]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5484/inflammatory-linear-verrucous-epidermal-nevus Inflammatory linear verrucous epidermal nevus]
 
* '''[https://rarediseases.info.nih.gov/diseases/10282/lin-gettig-syndrome Lin-Gettig syndrome]
 
* '''[[Lingua villosa]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6561/black-hairy-tongue Black hairy tongue] ''- not a rare disease''
 
* '''[[Linguofacial dyskinesia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7732/tardive-dyskinesia Tardive dyskinesia] ''- not a rare disease''
 
* '''[https://rarediseases.info.nih.gov/diseases/9342/lip-and-oral-cavity-cancer Lip and oral cavity cancer]
 
* '''[[Lip pit syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8414/van-der-woude-syndrome Van der Woude syndrome]
 
* '''[[Lip pseudocleft-hemangiomatous branchial cyst syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3212/branchiooculofacial-syndrome Branchiooculofacial syndrome]
 
* '''[[LIPA deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12097/lysosomal-acid-lipase-deficiency Lysosomal acid lipase deficiency]
 
* '''[[Lipase D deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12241/familial-lipoprotein-lipase-deficiency Familial lipoprotein lipase deficiency]
 
* '''[https://rarediseases.info.nih.gov/diseases/10244/lipase-deficiency-combined Lipase deficiency combined]
 
* '''[[LIPC Deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12864/hepatic-lipase-deficiency Hepatic lipase deficiency]
 
* '''[[LIPD deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12241/familial-lipoprotein-lipase-deficiency Familial lipoprotein lipase deficiency]
 
* '''[https://rarediseases.info.nih.gov/diseases/10542/lipedema Lipedema] ''- not a rare disease''
 
* '''[https://rarediseases.info.nih.gov/diseases/12974/lipedematous-scalp Lipedematous Scalp]
 
* '''[[LIPE-related familial partial lipodystrophy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/11962/familial-partial-lipodystrophy Familial partial lipodystrophy]
 
* '''[[LIPE-related FPLD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/11962/familial-partial-lipodystrophy Familial partial lipodystrophy]
 
* '''[[Lipid transport defect of intestine]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9683/chylomicron-retention-disease Chylomicron retention disease]
 
* '''[https://rarediseases.info.nih.gov/diseases/3262/lipidosis-with-triglycerid-storage-disease Lipidosis with triglycerid storage disease]
 
* '''[[Lipid-storage myopathy secondary to short-chain acyl-CoA dehydrogenase deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4822/short-chain-acyl-coa-dehydrogenase-deficiency Short-chain acyl-CoA dehydrogenase deficiency]
 
* '''[[Lipoate biosynthesis defect]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12679/lipoic-acid-biosynthesis-defects Lipoic acid biosynthesis defects]
 
* '''[[Lipoatrophic diabetes]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3126/familial-partial-lipodystrophy-type-2 Familial partial lipodystrophy type 2]
 
* '''[[Lipoatrophic diabetes]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13388/congenital-generalized-lipodystrophy Congenital generalized lipodystrophy]
 
* '''[https://rarediseases.info.nih.gov/diseases/9990/lipoatrophy-with-diabetes-hepatic-steatosis-cardiomyopathy-and-leukomelanodermic-papules Lipoatrophy with diabetes, hepatic steatosis, cardiomyopathy, and leukomelanodermic papules]
 
* '''[https://rarediseases.info.nih.gov/diseases/12015/lipoblastoma Lipoblastoma]
 
* '''[https://rarediseases.info.nih.gov/diseases/9671/lipodermatosclerosis Lipodermatosclerosis]
 
* '''[[Lipodystophy partial progressive]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10509/barraquer-simons-syndrome Barraquer-Simons syndrome]
 
* '''[[Lipodystrophy cephalothoracic type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10509/barraquer-simons-syndrome Barraquer-Simons syndrome]
 
* '''[[Lipodystrophy due to peptidic growth factors deficiency
 
* '''[[Lipodystrophy partial acquired]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10509/barraquer-simons-syndrome Barraquer-Simons syndrome]
 
* '''[[Lipodystrophy, Berardinelli-Seip congenital, type 4, with muscular dystrophy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10937/congenital-generalized-lipodystrophy-type-4 Congenital generalized lipodystrophy type 4]
 
* '''[[Lipodystrophy, congenital generalized, type 4]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10937/congenital-generalized-lipodystrophy-type-4 Congenital generalized lipodystrophy type 4]
 
* '''[[LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PPARG MUTATIONS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12600/familial-partial-lipodystrophy-associated-with-pparg-mutations Familial partial lipodystrophy associated with PPARG mutations]
 
* '''[[Lipodystrophy, familial partial, Dunnigan type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3126/familial-partial-lipodystrophy-type-2 Familial partial lipodystrophy type 2]
 
* '''[[Lipodystrophy, familial partial, type 2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3126/familial-partial-lipodystrophy-type-2 Familial partial lipodystrophy type 2]
 
* '''[[Lipodystrophy, familial partial, type 4]]'''
 
See [https://rarediseases.info.nih.gov/diseases/11962/familial-partial-lipodystrophy Familial partial lipodystrophy]
 
* '''[[Lipodystrophy, familial partial, type 5]]'''
 
See [https://rarediseases.info.nih.gov/diseases/11962/familial-partial-lipodystrophy Familial partial lipodystrophy]
 
* '''[[Lipodystrophy, familial partial, type 6]]'''
 
See [https://rarediseases.info.nih.gov/diseases/11962/familial-partial-lipodystrophy Familial partial lipodystrophy]
 
* '''[[Lipodystrophy, familial, of limbs and lower trunk]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3126/familial-partial-lipodystrophy-type-2 Familial partial lipodystrophy type 2]
 
* '''[[Lipodystrophy, reverse partial]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3126/familial-partial-lipodystrophy-type-2 Familial partial lipodystrophy type 2]
 
* '''[[Lipodystrophy, type A, associated with mandibuloacral dysplasia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3374/mandibuloacral-dysplasia-with-type-a-lipodystrophy Mandibuloacral dysplasia with type A lipodystrophy]
 
* '''[[Lipodystrophy, type B, associated with mandibuloacral dysplasia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9989/mandibuloacral-dysplasia-with-type-b-lipodystrophy Mandibuloacral dysplasia with type B lipodystrophy]
 
* '''[[Lipofuscin storage disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9447/ceroid-storage-disease Ceroid storage disease]
 
* '''[https://rarediseases.info.nih.gov/diseases/6910/lipogranulomatosis Lipogranulomatosis]
 
* '''[[Lipoic acid biosynthesis defect]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12679/lipoic-acid-biosynthesis-defects Lipoic acid biosynthesis defects]
 
* '''[https://rarediseases.info.nih.gov/diseases/12679/lipoic-acid-biosynthesis-defects Lipoic acid biosynthesis defects]
 
* '''[https://rarediseases.info.nih.gov/diseases/12678/lipoic-acid-synthetase-deficiency Lipoic acid synthetase deficiency]
 
* '''[[Lipoid CAH]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1465/congenital-lipoid-adrenal-hyperplasia Congenital lipoid adrenal hyperplasia]
 
* '''[[Lipoid congenital adrenal hyperplasia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1465/congenital-lipoid-adrenal-hyperplasia Congenital lipoid adrenal hyperplasia]
 
* '''[[Lipoid granulomatosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6369/erdheim-chester-disease Erdheim-Chester disease]
 
* '''[https://rarediseases.info.nih.gov/diseases/3268/lipoid-proteinosis-of-urbach-and-wiethe Lipoid proteinosis of Urbach and Wiethe]
 
* '''[[Lipomatosis of pancreas, congenital]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4863/shwachman-diamond-syndrome Shwachman-Diamond syndrome]
 
* '''[[Lipomatous medulloblastoma (formerly)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10642/cerebellar-liponeurocytoma Cerebellar liponeurocytoma]
 
* '''[[Lipomucopolysaccharidosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7183/sialidosis-type-ii Sialidosis, type II]
 
* '''[https://rarediseases.info.nih.gov/diseases/10053/lipomyelomeningocele Lipomyelomeningocele]
 
* '''[[Lipoprotein lipase deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12241/familial-lipoprotein-lipase-deficiency Familial lipoprotein lipase deficiency]
 
* '''[[Lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10244/lipase-deficiency-combined Lipase deficiency combined]
 
* '''[[Lipoprotein lipase deficiency, familial]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12241/familial-lipoprotein-lipase-deficiency Familial lipoprotein lipase deficiency]
 
* '''[[Lipoproteinosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3268/lipoid-proteinosis-of-urbach-and-wiethe Lipoid proteinosis of Urbach and Wiethe]
 
* '''[https://rarediseases.info.nih.gov/diseases/6913/liposarcoma Liposarcoma]
 
* '''[[Liposclerotic mesenteritis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8169/sclerosing-mesenteritis Sclerosing mesenteritis]
 
* '''[[Liposomal Acid Lipase Deficiency, Wolman Type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7899/wolman-disease Wolman disease]
 
* '''[[LIS1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5049/lissencephaly-1 Lissencephaly 1]
 
* '''[[LIS2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3277/lissencephaly-2 Lissencephaly 2]
 
* '''[[Lison syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/336/spastic-paraplegia-23 Spastic paraplegia 23]
 
* '''[https://rarediseases.info.nih.gov/diseases/12291/lissencephaly Lissencephaly]
 
* '''[https://rarediseases.info.nih.gov/diseases/5049/lissencephaly-1 Lissencephaly 1]
 
* '''[https://rarediseases.info.nih.gov/diseases/3277/lissencephaly-2 Lissencephaly 2]
 
* '''[[Lissencephaly and agenesis of corpus callosum]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6914/lissencephaly-x-linked Lissencephaly X-linked]
 
* '''[[Lissencephaly classic]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5049/lissencephaly-1 Lissencephaly 1]
 
* '''[[Lissencephaly sequence isolated]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5049/lissencephaly-1 Lissencephaly 1]
 
* '''[[Lissencephaly syndrome Norman-Roberts type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3277/lissencephaly-2 Lissencephaly 2]
 
* '''[[Lissencephaly type 2 with muscular and ocular involvement - Another name for Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
 
* '''[https://rarediseases.info.nih.gov/diseases/6914/lissencephaly-x-linked Lissencephaly X-linked]
 
* '''[[Lissencephaly, X-linked 2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12491/x-linked-lissencephaly-with-abnormal-genitalia X-linked lissencephaly with abnormal genitalia]
 
* '''[[LISSENCEPHALY, X-LINKED, WITH AMBIGUOUS GENITALIA]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12491/x-linked-lissencephaly-with-abnormal-genitalia X-linked lissencephaly with abnormal genitalia]
 
* '''[https://rarediseases.info.nih.gov/diseases/6915/listeria-infection Listeria infection]
 
* '''[[Listeria monocytogenes infection]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6915/listeria-infection Listeria infection]
 
* '''[[Listeriosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6915/listeria-infection Listeria infection]
 
* '''[[LISX]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6914/lissencephaly-x-linked Lissencephaly X-linked]
 
* '''[[Littoral cell angioma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9714/littoral-cell-angioma-of-the-spleen Littoral cell angioma of the spleen]
 
* '''[https://rarediseases.info.nih.gov/diseases/9714/littoral-cell-angioma-of-the-spleen Littoral cell angioma of the spleen]
 
* '''[[Livedo racemosa and cerebrovascular accidents]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7664/sneddon-syndrome Sneddon syndrome]
 
* '''[[Livedo racemosa-cerebrovascular accident syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7664/sneddon-syndrome Sneddon syndrome]
 
* '''[[Livedo reticularis and cerebrovascular accidents]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7664/sneddon-syndrome Sneddon syndrome]
 
* '''[[Livedo reticularis with summer ulcerations]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12784/livedoid-vasculopathy Livedoid vasculopathy]
 
* '''[[Livedo reticularis with winter ulcerations]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12784/livedoid-vasculopathy Livedoid vasculopathy]
 
* '''[[Livedo reticularis-cerebrovascular accident syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7664/sneddon-syndrome Sneddon syndrome]
 
* '''[[Livedo vasculitis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12784/livedoid-vasculopathy Livedoid vasculopathy]
 
* '''[[Livedoid vasculitis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12784/livedoid-vasculopathy Livedoid vasculopathy]
 
* '''[https://rarediseases.info.nih.gov/diseases/12784/livedoid-vasculopathy Livedoid vasculopathy]
 
* '''[[Liver glycogen storage disease 0]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2513/glycogen-storage-disease-type-0-liver Glycogen storage disease type 0, liver]
 
* '''[[Liver glycogen synthase deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2513/glycogen-storage-disease-type-0-liver Glycogen storage disease type 0, liver]
 
* '''[[Liver GSD 0]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2513/glycogen-storage-disease-type-0-liver Glycogen storage disease type 0, liver]
 
* '''[[LKS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6855/landau-kleffner-syndrome Landau-Kleffner syndrome]
 
* '''[[LLP]]'''
 
See [https://rarediseases.info.nih.gov/diseases/11898/linear-lichen-planus Linear lichen planus]
 
* '''[[L-lysine NAD-oxido-reductase deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2828/hyperlysinemia Hyperlysinemia]
 
* '''[[LMM]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9962/lentigo-maligna-melanoma Lentigo maligna melanoma]
 
* '''[[LMNA-related congenital muscular dystrophy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9138/congenital-muscular-dystrophy Congenital muscular dystrophy]
 
* '''[[LMPS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3834/multiple-pterygium-syndrome-lethal-type Multiple pterygium syndrome lethal type]
 
* '''[[LMS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10051/limb-mammary-syndrome Limb-mammary syndrome]
 
* '''[[LMS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9873/lateral-meningocele-syndrome Lateral meningocele syndrome]
 
* '''[[LNMS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12635/laurence-moon-syndrome Laurence-Moon syndrome]
 
* '''[[LNS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7226/lesch-nyhan-syndrome Lesch Nyhan syndrome]
 
* '''[[Loa loa filariasis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3283/loiasis Loiasis]
 
* '''[[Lobar atrophy of the brain]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7392/behavioral-variant-of-frontotemporal-dementia Behavioral variant of frontotemporal dementia]
 
* '''[[Lobo disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7323/paracoccidioidomycosis Paracoccidioidomycosis]
 
* '''[[Lobstein disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1017/osteogenesis-imperfecta Osteogenesis imperfecta]
 
* '''[[Lobular capillary hemangioma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10963/pyogenic-granuloma Pyogenic granuloma] ''- not a rare disease''
 
* '''[[LOCAH]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9592/non-classic-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency] ''- not a rare disease''
 
* '''[[Local hypoplastic amelogenesis imperfecta]]'''
 
See [https://rarediseases.info.nih.gov/diseases/645/amelogenesis-imperfecta-local-hypoplastic Amelogenesis imperfecta local hypoplastic]
 
* '''[[Localized Castleman disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6005/unicentric-castleman-disease Unicentric Castleman disease]
 
* '''[[Localized cicatricial pemphigoid]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10454/brunsting-perry-syndrome Brunsting-Perry syndrome]
 
* '''[[Localized deciduous skin]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12863/acral-peeling-skin-syndrome Acral peeling skin syndrome]
 
* '''[[Localized fibrosing scleroderma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7058/localized-scleroderma Localized scleroderma]
 
* '''[https://rarediseases.info.nih.gov/diseases/10920/localized-hypertrophic-neuropathy Localized hypertrophic neuropathy]
 
* '''[[Localized junctional epidermolysis bullosa, non-Herlitz type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2152/junctional-epidermolysis-bullosa Junctional epidermolysis bullosa]
 
* '''[[Localized lichen myxedematosus]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7321/papular-mucinosis Papular mucinosis]
 
* '''[[Localized lipodystrophy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5867/localized-lipodystrophy Localized lipodystrophy]
 
* '''[https://rarediseases.info.nih.gov/diseases/5867/localized-lipodystrophy Localized lipodystrophy]
 
* '''[[Localized lipomatosis of the scalp with or without alopecia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12974/lipedematous-scalp Lipedematous Scalp]
 
* '''[[Localized pigmented villonodular synovitis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7396/pigmented-villonodular-synovitis Pigmented villonodular synovitis]
 
* '''[[Localized PSS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12863/acral-peeling-skin-syndrome Acral peeling skin syndrome]
 
* '''[[Localized pustular psoriasis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12820/pustulosis-palmaris-et-plantaris Pustulosis palmaris et plantaris]
 
* '''[https://rarediseases.info.nih.gov/diseases/7058/localized-scleroderma Localized scleroderma]
 
* '''[[Locked in syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6919/locked-in-syndrome Locked-in syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/6919/locked-in-syndrome Locked-in syndrome]
 
* '''[[Lockjaw]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5144/tetanus Tetanus]
 
* '''[[LOCS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa Epidermolysis bullosa]
 
* '''[[Loeffler syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/107/pneumonia-eosinophilic Pneumonia, eosinophilic]
 
* '''[[Loeys-Dietz aortic aneurysm syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10788/loeys-dietz-syndrome Loeys-Dietz syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/10788/loeys-dietz-syndrome Loeys-Dietz syndrome]
 
* '''[[Loeys-Dietz syndrome 1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9458/loeys-dietz-syndrome-type-1 Loeys-Dietz syndrome type 1]
 
* '''[[Loeys-Dietz syndrome 2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10586/loeys-dietz-syndrome-type-2 Loeys-Dietz syndrome type 2]
 
* '''[[Loeys-Dietz syndrome 4]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10588/loeys-dietz-syndrome-type-4 Loeys-Dietz syndrome type 4]
 
* '''[https://rarediseases.info.nih.gov/diseases/9458/loeys-dietz-syndrome-type-1 Loeys-Dietz syndrome type 1]
 
* '''[https://rarediseases.info.nih.gov/diseases/10586/loeys-dietz-syndrome-type-2 Loeys-Dietz syndrome type 2]
 
* '''[https://rarediseases.info.nih.gov/diseases/10997/loeys-dietz-syndrome-type-3 Loeys-Dietz syndrome type 3]
 
* '''[https://rarediseases.info.nih.gov/diseases/10588/loeys-dietz-syndrome-type-4 Loeys-Dietz syndrome type 4]
 
* '''[[Loeys-Dietz syndrome with osteoarthritis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10997/loeys-dietz-syndrome-type-3 Loeys-Dietz syndrome type 3]
 
* '''[[Loeys-Dietz syndrome, type 1c (formerly)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10997/loeys-dietz-syndrome-type-3 Loeys-Dietz syndrome type 3]
 
* '''[[Loeys-Dietz syndrome, type 3]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10997/loeys-dietz-syndrome-type-3 Loeys-Dietz syndrome type 3]
 
* '''[[LOFAD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12799/late-onset-familial-alzheimer-disease Late-Onset Familial Alzheimer Disease]
 
* '''[[Logic syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa Epidermolysis bullosa]
 
* '''[[Logopenic primary progressive aphasia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10791/logopenic-progressive-aphasia Logopenic progressive aphasia]
 
* '''[https://rarediseases.info.nih.gov/diseases/10791/logopenic-progressive-aphasia Logopenic progressive aphasia]
 
* '''[[Logopenic variant PPA]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10791/logopenic-progressive-aphasia Logopenic progressive aphasia]
 
* '''[https://rarediseases.info.nih.gov/diseases/3283/loiasis Loiasis]
 
* '''[https://rarediseases.info.nih.gov/diseases/6920/loin-pain-hematuria-syndrome Loin pain hematuria syndrome]
 
* '''[[Loken-Senior syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/322/senior-loken-syndrome Senior Loken Syndrome]
 
* '''[[Long bone deficiencies associated with cleft lip-palate]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7387/roberts-syndrome Roberts syndrome]
 
* '''[[Long columella with cleft lip/palate and eye, heart and intestinal anomalies]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3078/kapur-toriello-syndrome Kapur Toriello syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/6922/long-qt-syndrome Long QT syndrome] ''- not a rare disease''
 
* '''[https://rarediseases.info.nih.gov/diseases/3284/long-qt-syndrome-1 Long QT syndrome 1]
 
* '''[https://rarediseases.info.nih.gov/diseases/10436/long-qt-syndrome-10 Long QT syndrome 10]
 
* '''[https://rarediseases.info.nih.gov/diseases/10437/long-qt-syndrome-11 Long QT syndrome 11]
 
* '''[https://rarediseases.info.nih.gov/diseases/3285/long-qt-syndrome-2 Long QT syndrome 2]
 
* '''[https://rarediseases.info.nih.gov/diseases/3286/long-qt-syndrome-3 Long QT syndrome 3]
 
* '''[https://rarediseases.info.nih.gov/diseases/10432/long-qt-syndrome-4 Long QT syndrome 4]
 
* '''[https://rarediseases.info.nih.gov/diseases/10433/long-qt-syndrome-5 Long QT syndrome 5]
 
* '''[https://rarediseases.info.nih.gov/diseases/10434/long-qt-syndrome-6 Long QT syndrome 6]
 
* '''[[Long QT syndrome 7]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9453/andersen-tawil-syndrome Andersen-Tawil syndrome]
 
* '''[[Long QT syndrome 8]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9294/timothy-syndrome Timothy syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/10435/long-qt-syndrome-9 Long QT syndrome 9]
 
* '''[[Long QT syndrome with syndactyly]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9294/timothy-syndrome Timothy syndrome]
 
* '''[[Long-chain 3-hydroxy acyl CoA dehydrogenase deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6867/lchad-deficiency LCHAD deficiency]
 
* '''[[Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6867/lchad-deficiency LCHAD deficiency]
 
* '''[[Long-chain 3-OH acyl-CoA dehydrogenase deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6867/lchad-deficiency LCHAD deficiency]
 
* '''[[Long-chain acyl-CoA dehydrogenase deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9700/lcad-deficiency LCAD deficiency]
 
* '''[[Long-thumb brachydactyly syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/968/brachydactyly-long-thumb-type Brachydactyly long thumb type]
 
* '''[https://rarediseases.info.nih.gov/diseases/3287/loose-anagen-hair-syndrome Loose anagen hair syndrome]
 
* '''[[Loose anagen syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3287/loose-anagen-hair-syndrome Loose anagen hair syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/296/lopes-gorlin-syndrome Lopes Gorlin syndrome]
 
* '''[[LORD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4357/late-onset-retinal-degeneration Late-onset retinal degeneration]
 
* '''[[Loss of all scalp hair]]'''
 
See [https://rarediseases.info.nih.gov/diseases/613/alopecia-totalis Alopecia totalis]
 
* '''[[Lota]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7397/pinta Pinta]
 
* '''[[Lou Gehrig disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5786/amyotrophic-lateral-sclerosis Amyotrophic lateral sclerosis]
 
* '''[[Louis-Bar syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5862/ataxia-telangiectasia Ataxia telangiectasia]
 
* '''[[Low tolerance to sound]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9655/hyperacusis Hyperacusis]
 
* '''[[Low-birth-weight dwarfism with skeletal dysplasia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5120/microcephalic-osteodysplastic-primordial-dwarfism-type-1 Microcephalic osteodysplastic primordial dwarfism type 1]
 
* '''[[Lowe Kohn Cohen syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1695/deafness-nephritis-anorectal-malformation Deafness nephritis anorectal malformation]
 
* '''[https://rarediseases.info.nih.gov/diseases/3295/lowe-oculocerebrorenal-syndrome Lowe oculocerebrorenal syndrome]
 
* '''[[Lowe syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3295/lowe-oculocerebrorenal-syndrome Lowe oculocerebrorenal syndrome]
 
* '''[[Lower brachial plexus palsy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3123/klumpke-paralysis Klumpke paralysis]
 
* '''[[Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13222/autosomal-dominant-spinal-muscular-atrophy-lower-extremity-predominant-2 Autosomal dominant spinal muscular atrophy, lower extremity-predominant 2]
 
* '''[[Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13519/autosomal-dominant-spinal-muscular-atrophy-lower-extremity-predominant-1 Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1]
 
* '''[[Lower limb partial duplication renal agenesis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/892/billet-bear-syndrome Billet Bear syndrome]
 
* '''[[Lower mesodermal defects]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3299/lower-mesodermal-defects-sequence Lower mesodermal defects sequence]
 
* '''[https://rarediseases.info.nih.gov/diseases/3299/lower-mesodermal-defects-sequence Lower mesodermal defects sequence]
 
* '''[[Low-grade diffuse astrocytoma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5907/diffuse-astrocytoma Diffuse astrocytoma]
 
* '''[[Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13105/dent-disease Dent disease]
 
* '''[https://rarediseases.info.nih.gov/diseases/3300/lowry-maclean-syndrome Lowry Maclean syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/264/lowry-wood-syndrome Lowry Wood syndrome]
 
* '''[[LP pemphigoides]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12677/lichen-planus-pemphigoides Lichen planus pemphigoides]
 
* '''[[LP pigmentosa]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10816/lichen-planus-pigmentosus Lichen planus pigmentosus]
 
* '''[[LP pigmentosus]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10816/lichen-planus-pigmentosus Lichen planus pigmentosus]
 
* '''[[LPA]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10791/logopenic-progressive-aphasia Logopenic progressive aphasia]
 
* '''[[LPD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12843/disseminated-peritoneal-leiomyomatosis Disseminated peritoneal leiomyomatosis]
 
* '''[[LPHS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6920/loin-pain-hematuria-syndrome Loin pain hematuria syndrome]
 
* '''[[LPI]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3335/lysinuric-protein-intolerance Lysinuric protein intolerance]
 
* '''[[LPL and HL deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10244/lipase-deficiency-combined Lipase deficiency combined]
 
* '''[[LPL and HTGL deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10244/lipase-deficiency-combined Lipase deficiency combined]
 
* '''[[LPL deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12241/familial-lipoprotein-lipase-deficiency Familial lipoprotein lipase deficiency]
 
* '''[[LPP]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12820/pustulosis-palmaris-et-plantaris Pustulosis palmaris et plantaris]
 
* '''[[LPP]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3247/lichen-planopilaris Lichen planopilaris]
 
* '''[[LPS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8414/van-der-woude-syndrome Van der Woude syndrome]
 
* '''[[LQT1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3284/long-qt-syndrome-1 Long QT syndrome 1]
 
* '''[[LQT10]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10436/long-qt-syndrome-10 Long QT syndrome 10]
 
* '''[[LQT11]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10437/long-qt-syndrome-11 Long QT syndrome 11]
 
* '''[[LQT2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3285/long-qt-syndrome-2 Long QT syndrome 2]
 
* '''[[LQT3]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3286/long-qt-syndrome-3 Long QT syndrome 3]
 
* '''[[LQT4]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10432/long-qt-syndrome-4 Long QT syndrome 4]
 
* '''[[LQT5]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10433/long-qt-syndrome-5 Long QT syndrome 5]
 
* '''[[LQT6]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10434/long-qt-syndrome-6 Long QT syndrome 6]
 
* '''[[LQT7]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9453/andersen-tawil-syndrome Andersen-Tawil syndrome]
 
* '''[[LQT8]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9294/timothy-syndrome Timothy syndrome]
 
* '''[[LQT9]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10435/long-qt-syndrome-9 Long QT syndrome 9]
 
* '''[https://rarediseases.info.nih.gov/diseases/13565/lrba-deficiency LRBA deficiency]
 
* '''[[LRBA deficiency with Autoantibodies, regulatory T cell defects, Autoimmune Infiltration, and Enteropathy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13565/lrba-deficiency LRBA deficiency]
 
* '''[[LRCC]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10096/hereditary-leiomyomatosis-and-renal-cell-cancer Hereditary leiomyomatosis and renal cell cancer]
 
* '''[[LRS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6860/larsen-syndrome Larsen syndrome]
 
* '''[[LS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6877/leigh-syndrome Leigh syndrome]
 
* '''[[LSFC]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8370/leigh-syndrome-french-canadian-type Leigh syndrome, French Canadian type]
 
* '''[[LTBL]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13381/leukoencephalopathy-with-thalamus-and-brainstem-involvement-and-high-lactate Leukoencephalopathy with thalamus and brainstem involvement and high lactate]
 
* '''[[LTEC]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3188/laryngeal-cleft Laryngeal cleft]
 
* '''[[L-tryptophan induced EMS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6345/eosinophilia-myalgia-syndrome Eosinophilia-myalgia syndrome]
 
* '''[[Lubag]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10533/x-linked-dystonia-parkinsonismlubag X-linked dystonia-parkinsonism/Lubag]
 
* '''[https://rarediseases.info.nih.gov/diseases/3303/lubani-al-saleh-teebi-syndrome Lubani Al Saleh Teebi syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/298/lubinsky-syndrome Lubinsky syndrome]
 
* '''[[Lubs X-linked mental retardation syndrome (formerly)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9781/mecp2-duplication-syndrome MECP2 duplication syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3304/lucey-driscoll-syndrome Lucey-Driscoll syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3307/lujan-syndrome Lujan syndrome]
 
* '''[[Lundberg syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4424/polyneuropathy-intellectual-disability-acromicria-premature-menopause-syndrome Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/5742/lung-adenocarcinoma Lung adenocarcinoma]
 
* '''[https://rarediseases.info.nih.gov/diseases/9119/lung-agenesis Lung agenesis]
 
* '''[[Lung agenesis heart defect thumb anomalies]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3378/manouvrier-syndrome Manouvrier syndrome]
 
* '''[[Lung nocardiosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7210/nocardiosis Nocardiosis]
 
* '''[[Lung Small Cell Carcinoma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9344/small-cell-lung-cancer Small cell lung cancer]
 
* '''[https://rarediseases.info.nih.gov/diseases/10253/lupus Lupus] ''- not a rare disease''
 
* '''[[Lupus anticoagulant, familial]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5824/antiphospholipid-syndrome Antiphospholipid syndrome]
 
* '''[[Lupus erythematosus]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10253/lupus Lupus] ''- not a rare disease''
 
* '''[https://rarediseases.info.nih.gov/diseases/13003/lupus-erythematosus-tumidus Lupus erythematosus tumidus]
 
* '''[[Lupus erythematosus, cutaneous]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6225/cutaneous-lupus-erythematosus Cutaneous lupus erythematosus]
 
* '''[https://rarediseases.info.nih.gov/diseases/10747/lupus-nephritis Lupus nephritis]
 
* '''[[Luteinizing hormone releasing hormone, deficiency of with ataxia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3314/cerebellar-ataxia-and-hypogonadotropic-hypogonadism Cerebellar ataxia and hypogonadotropic hypogonadism]
 
* '''[[Luteinizing hormone-releasing hormone deficiency with ataxia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3314/cerebellar-ataxia-and-hypogonadotropic-hypogonadism Cerebellar ataxia and hypogonadotropic hypogonadism]
 
* '''[[Lutz-Lewandowsky epidermodysplasia verruciformis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6357/epidermodysplasia-verruciformis Epidermodysplasia verruciformis]
 
* '''[[Lutz-Splendore-Almeida disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7323/paracoccidioidomycosis Paracoccidioidomycosis]
 
* '''[[LVM]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3445/megalencephalic-leukoencephalopathy-with-subcortical-cysts Megalencephalic leukoencephalopathy with subcortical cysts]
 
* '''[[LVNC]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10985/left-ventricular-noncompaction Left ventricular noncompaction]
 
* '''[[LWD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3224/leri-weill-dyschondrosteosis Leri Weill dyschondrosteosis]
 
* '''[[LWNH]]'''
 
See [https://rarediseases.info.nih.gov/diseases/11004/linear-and-whorled-nevoid-hypermelanosis Linear and whorled nevoid hypermelanosis]
 
* '''[[LWS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/264/lowry-wood-syndrome Lowry Wood syndrome]
 
* '''[[L-Xylulose reductase deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/418/pentosuria Pentosuria]
 
* '''[[L-Xylulosuria]]'''
 
See [https://rarediseases.info.nih.gov/diseases/418/pentosuria Pentosuria]
 
* '''[[LYH]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10349/lymphocytic-hypophysitis Lymphocytic hypophysitis]
 
* '''[[Lyme borreliosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12073/lyme-disease Lyme disease] ''- not a rare disease''
 
* '''[https://rarediseases.info.nih.gov/diseases/12073/lyme-disease Lyme disease] ''- not a rare disease''
 
* '''[https://rarediseases.info.nih.gov/diseases/6932/lymph-node-neoplasm Lymph Node Neoplasm]
 
* '''[[Lymphangiectasia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6933/lymphangiectasis Lymphangiectasis]
 
* '''[[Lymphangiectasia pulmonary congenital]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9900/congenital-pulmonary-lymphangiectasia Congenital pulmonary lymphangiectasia]
 
* '''[[Lymphangiectasies and lymphedema Hennekam type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3318/hennekam-syndrome Hennekam syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/6933/lymphangiectasis Lymphangiectasis]
 
* '''[https://rarediseases.info.nih.gov/diseases/3319/lymphangioleiomyomatosis Lymphangioleiomyomatosis]
 
* '''[[Lymphangiomas]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9789/lymphatic-malformations Lymphatic malformations]
 
* '''[https://rarediseases.info.nih.gov/diseases/10979/lymphangiomatosis Lymphangiomatosis]
 
* '''[[Lymphangiomatosis pulmonary]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9900/congenital-pulmonary-lymphangiectasia Congenital pulmonary lymphangiectasia]
 
* '''[[Lymphangio-myomatosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3319/lymphangioleiomyomatosis Lymphangioleiomyomatosis]
 
* '''[[Lymphangiosarcoma following mastectomy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8706/stewart-treves-syndrome Stewart Treves syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3321/lymphatic-filariasis Lymphatic filariasis]
 
* '''[https://rarediseases.info.nih.gov/diseases/9789/lymphatic-malformations Lymphatic malformations]
 
* '''[https://rarediseases.info.nih.gov/diseases/9217/lymphedema-and-cerebral-arteriovenous-anomaly Lymphedema and cerebral arteriovenous anomaly]
 
* '''[[Lymphedema cholestasis syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/370/aagenaes-syndrome Aagenaes syndrome]
 
* '''[[Lymphedema hereditary type 2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3324/hereditary-lymphedema-type-ii Hereditary lymphedema type II]
 
* '''[[Lymphedema hypoparathyroidism syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/237/dahlberg-borer-newcomer-syndrome Dahlberg Borer Newcomer syndrome]
 
* '''[[Lymphedema praecox]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3324/hereditary-lymphedema-type-ii Hereditary lymphedema type II]
 
* '''[[Lymphedema with distichiasis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/333/lymphedema-distichiasis-syndrome Lymphedema-distichiasis syndrome]
 
* '''[[Lymphedema with yellow nails]]'''
 
See [https://rarediseases.info.nih.gov/diseases/184/yellow-nail-syndrome Yellow nail syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3622/lymphedema-microcephaly-and-chorioretinopathy-syndrome Lymphedema, microcephaly and chorioretinopathy syndrome]
 
* '''[[Lymphedema, atrial septal defect, and characteristic facial changes]]'''
 
See [https://rarediseases.info.nih.gov/diseases/284/irons-bhan-syndrome Irons Bhan syndrome]
 
* '''[[Lymphedema, hereditary, II]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3324/hereditary-lymphedema-type-ii Hereditary lymphedema type II]
 
* '''[[Lymphedema, late-onset]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3324/hereditary-lymphedema-type-ii Hereditary lymphedema type II]
 
* '''[[Lymphedema, primary, with myelodysplasia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13030/deafness-lymphedema-leukemia-syndrome Deafness-lymphedema-leukemia syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/333/lymphedema-distichiasis-syndrome Lymphedema-distichiasis syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3329/lymphoblastic-lymphoma Lymphoblastic lymphoma]
 
* '''[[Lymphoblastoid variant of NK-cell lymphoma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10556/blastic-plasmacytoid-dendritic-cell Blastic plasmacytoid dendritic cell]
 
* '''[[Lymphocyte function-associated antigen 1 immunodeficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6893/leukocyte-adhesion-deficiency-type-1 Leukocyte adhesion deficiency type 1]
 
* '''[https://rarediseases.info.nih.gov/diseases/6939/lymphocytic-colitis Lymphocytic colitis] ''- not a rare disease''
 
* '''[https://rarediseases.info.nih.gov/diseases/10349/lymphocytic-hypophysitis Lymphocytic hypophysitis]
 
* '''[https://rarediseases.info.nih.gov/diseases/6940/lymphocytic-infiltrate-of-jessner Lymphocytic infiltrate of Jessner]
 
* '''[[Lymphocytic mastitis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8322/diabetic-mastopathy Diabetic mastopathy]
 
* '''[[Lymphocytic mastopathy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8322/diabetic-mastopathy Diabetic mastopathy]
 
* '''[https://rarediseases.info.nih.gov/diseases/6941/lymphocytic-vasculitis Lymphocytic vasculitis]
 
* '''[https://rarediseases.info.nih.gov/diseases/9545/lymphogranuloma-venereum Lymphogranuloma venereum]
 
* '''[[Lymphogranulomatosis X]]'''
 
See [https://rarediseases.info.nih.gov/diseases/11973/angioimmunoblastic-t-cell-lymphoma Angioimmunoblastic T-cell lymphoma]
 
* '''[[Lymphoma of the orbit]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9719/orbital-lymphoma Orbital lymphoma]
 
* '''[https://rarediseases.info.nih.gov/diseases/8221/lymphoma-aids-related Lymphoma AIDS related]
 
* '''[[Lymphoma, B-Cell]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5877/b-cell-lymphoma B-cell lymphoma]
 
* '''[[Lymphoma, follicular]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2356/follicular-lymphoma Follicular lymphoma]
 
* '''[[Lymphoma, Hodgkin's]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2714/hodgkin-lymphoma Hodgkin lymphoma]
 
* '''[https://rarediseases.info.nih.gov/diseases/8219/lymphoma-large-cell-immunoblastic Lymphoma, large-cell, immunoblastic]
 
* '''[[Lymphoma, Lymphoblastic]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3329/lymphoblastic-lymphoma Lymphoblastic lymphoma]
 
* '''[[Lymphoma, mantle cell]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6969/mantle-cell-lymphoma Mantle cell lymphoma]
 
* '''[https://rarediseases.info.nih.gov/diseases/6943/lymphomatoid-granulomatosis Lymphomatoid granulomatosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/6944/lymphomatoid-papulosis Lymphomatoid papulosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/6945/lymphomatous-thyroiditis Lymphomatous thyroiditis]
 
* '''[[Lymphoplasmacytic lymphoma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7872/waldenstrom-macroglobulinemia Waldenstrom macroglobulinemia]
 
* '''[[Lymphoplasmocytic sclerosing pancreatitis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10911/autoimmune-pancreatitis Autoimmune pancreatitis]
 
* '''[[Lymphoproliferative disease, X-linked]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10915/x-linked-lymphoproliferative-syndrome X-linked lymphoproliferative syndrome]
 
* '''[[Lymphoproliferative syndrome X-linked 1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7906/x-linked-lymphoproliferative-syndrome-1 X-linked lymphoproliferative syndrome 1]
 
* '''[[Lymphoproliferative syndrome, X-linked, 1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7906/x-linked-lymphoproliferative-syndrome-1 X-linked lymphoproliferative syndrome 1]
 
* '''[[Lymphoproliferative syndrome, X-linked, 2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10916/x-linked-lymphoproliferative-syndrome-2 X-linked lymphoproliferative syndrome 2]
 
* '''[https://rarediseases.info.nih.gov/diseases/6946/lymphosarcoma Lymphosarcoma]
 
* '''[[Lynch Lee Murday syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1163/caudal-appendage-deafness Caudal appendage deafness]
 
* '''[https://rarediseases.info.nih.gov/diseases/9905/lynch-syndrome Lynch syndrome] ''- not a rare disease''
 
* '''[[Lynch syndrome 1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9905/lynch-syndrome Lynch syndrome] ''- not a rare disease''
 
* '''[[Lynch syndrome 2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9905/lynch-syndrome Lynch syndrome] ''- not a rare disease''
 
* '''[[Lyngstadaas syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5015/steroid-dehydrogenase-deficiency-dental-anomalies Steroid dehydrogenase deficiency dental anomalies]
 
* '''[[LyP]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6944/lymphomatoid-papulosis Lymphomatoid papulosis]
 
* '''[[Lysine alpha-ketoglutarate reductase deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2828/hyperlysinemia Hyperlysinemia]
 
* '''[[Lysine intolerance]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2828/hyperlysinemia Hyperlysinemia]
 
* '''[https://rarediseases.info.nih.gov/diseases/3335/lysinuric-protein-intolerance Lysinuric protein intolerance]
 
* '''[https://rarediseases.info.nih.gov/diseases/12097/lysosomal-acid-lipase-deficiency Lysosomal acid lipase deficiency]
 
* '''[[Lysosomal alpha-D-mannosidase deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6968/alpha-mannosidosis Alpha-mannosidosis]
 
* '''[[Lysosomal beta-mannosidase deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/869/mannosidosis-beta-a-lysosomal Mannosidosis, beta A, lysosomal]
 
* '''[[Lysosomal cystine transport protein, defect of]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9755/nephropathic-cystinosis Nephropathic cystinosis]
 
* '''[[Lysosomal Free Sialic Acid Storage Disorders]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10870/free-sialic-acid-storage-disease Free sialic acid storage disease]
 
* '''[[Lysosomal glycogen storage disease without acid maltase deficiency (formerly)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9730/danon-disease Danon disease]
 
* '''[[Lysosomal protective protein deficiency of]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3953/galactosialidosis Galactosialidosis]
 
* '''[[Lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6473/fucosidosis Fucosidosis]
 
* '''[[Lyssa]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7516/rabies Rabies]
 
* '''[[Lysyl hydroxylase-deficient EDS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2083/kyphoscoliotic-ehlers-danlos-syndrome Kyphoscoliotic Ehlers-Danlos syndrome]
 
* '''[[M hemoglobinopathy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13007/methemoglobinemia-beta-globin-type Methemoglobinemia, beta-globin type]
 
* '''[[M. Abscessus]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10548/mycobacterium-abscessus Mycobacterium Abscessus]
 
* '''[[M. Chelonae]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10552/mycobacterium-chelonae Mycobacterium Chelonae]
 
* '''[[M. Fortuitum]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9773/mycobacterium-fortuitum Mycobacterium fortuitum]
 
* '''[[M. Gordonae]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10553/mycobacterium-gordonae Mycobacterium Gordonae]
 
* '''[[M. Kansasii]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10551/mycobacterium-kansasii Mycobacterium Kansasii]
 
* '''[[M. Malmoense]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10549/mycobacterium-malmoense Mycobacterium Malmoense]
 
* '''[[M. Marinum]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9712/mycobacterium-marinum Mycobacterium Marinum]
 
* '''[[M. Xenopi]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10550/mycobacterium-xenopi Mycobacterium Xenopi]
 
* '''[[M/SCHAD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9870/3-alpha-hydroxyacyl-coa-dehydrogenase-deficiency 3-alpha hydroxyacyl-CoA dehydrogenase deficiency]
 
* '''[[M-A]]'''
 
See [https://rarediseases.info.nih.gov/diseases/431/microtia-anotia Microtia-Anotia]
 
* '''[[MAA (formerly)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/87/lenz-microphthalmia-syndrome Lenz microphthalmia syndrome]
 
* '''[[MAA2 (formerly)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4628/oculofaciocardiodental-syndrome Oculofaciocardiodental syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/144/mac-dermot-winter-syndrome Mac Dermot Winter syndrome]
 
* '''[[Mac Duffie hypocomplementemic urticarial vasculitis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6725/hypocomplementemic-urticarial-vasculitis Hypocomplementemic urticarial vasculitis]
 
* '''[[Mac Duffie syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6725/hypocomplementemic-urticarial-vasculitis Hypocomplementemic urticarial vasculitis]
 
* '''[[MAC spectrum]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12085/microphthalmia Microphthalmia]
 
* '''[[Maccario Mena Weir syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/349/neuroaxonal-dystrophy-renal-tubular-acidosis Neuroaxonal dystrophy renal tubular acidosis]
 
* '''[[Macdermot-Winter syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/144/mac-dermot-winter-syndrome Mac Dermot Winter syndrome]
 
* '''[[Machado-Joseph disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6801/spinocerebellar-ataxia-3 Spinocerebellar ataxia 3]
 
* '''[[Macias Flores-Garcia Cruz-Rivera syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2863/x-linked-congenital-generalized-hypertrichosis X-linked congenital generalized hypertrichosis]
 
* '''[[Macias-Flores Garcia-Cruz Rivera syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2863/x-linked-congenital-generalized-hypertrichosis X-linked congenital generalized hypertrichosis]
 
* '''[[MacKay Shek Carr syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/395/retinal-degeneration-with-nanophthalmos-cystic-macular-degeneration-and-angle-closure-glaucoma Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma]
 
* '''[[Macrencephaly]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2637/hemimegalencephaly Hemimegalencephaly]
 
* '''[[Macrocephalic sperm head syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12385/macrozoospermia Macrozoospermia]
 
* '''[[Macrocephaly cutis marmorata telangiectatica congenita]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6950/megalencephaly-capillary-malformation-syndrome Megalencephaly-capillary malformation syndrome]
 
* '''[[Macrocephaly multiple lipomas and hemangiomata]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5887/bannayan-riley-ruvalcaba-syndrome Bannayan-Riley-Ruvalcaba syndrome]
 
* '''[[Macrocephaly pseudopapilledema and multiple hemangiomas]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5887/bannayan-riley-ruvalcaba-syndrome Bannayan-Riley-Ruvalcaba syndrome]
 
* '''[[Macrocephaly short limbs deafness]]'''
 
See [https://rarediseases.info.nih.gov/diseases/398/bagatelle-cassidy-syndrome Bagatelle Cassidy syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/147/macrocephaly-benign-familial Macrocephaly, benign familial]
 
* '''[[Macrocephaly, brachycephaly, depressed nasal bridge, hypertelorism, thick eyebrows/scalp hair, short stature/neck, seizures, progressive dementia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6474/fucosidosis-type-1 Fucosidosis type 1]
 
* '''[[Macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay]]'''
 
See [https://rarediseases.info.nih.gov/diseases/398/bagatelle-cassidy-syndrome Bagatelle Cassidy syndrome]
 
* '''[[Macrocephaly, seizures, intellectual disability, umbilical hernia, and facial dysmorphism]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13636/smith-kingsmore-syndrome Smith-Kingsmore syndrome]
 
* '''[[Macrocephaly-capillary malformation]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6950/megalencephaly-capillary-malformation-syndrome Megalencephaly-capillary malformation syndrome]
 
* '''[[Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13636/smith-kingsmore-syndrome Smith-Kingsmore syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/172/macrocephaly-short-stature-paraplegia-syndrome Macrocephaly-short stature-paraplegia syndrome]
 
* '''[[Macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/178/momo-syndrome MOMO syndrome]
 
* '''[[Macrocystic lymphatic malformation]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6234/cystic-hygroma Cystic hygroma]
 
* '''[https://rarediseases.info.nih.gov/diseases/6951/macrodactyly-of-the-foot Macrodactyly of the foot]
 
* '''[https://rarediseases.info.nih.gov/diseases/8529/macrodactyly-of-the-hand Macrodactyly of the hand]
 
* '''[https://rarediseases.info.nih.gov/diseases/173/macroepiphyseal-dysplasia-with-osteoporosis-wrinkled-skin-and-aged-appearance Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance]
 
* '''[[Macroepiphyseal dysplasia, McAlister Coe type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/173/macroepiphyseal-dysplasia-with-osteoporosis-wrinkled-skin-and-aged-appearance Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance]
 
* '''[[Macroglobulinemia of Waldenstrom]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7872/waldenstrom-macroglobulinemia Waldenstrom macroglobulinemia]
 
* '''[https://rarediseases.info.nih.gov/diseases/3342/macroglossia Macroglossia]
 
* '''[[Macrogyria]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7300/pachygyria Pachygyria]
 
* '''[[Macrogyria, pseudobulbar palsy and mental retardation]]'''
 
See [https://rarediseases.info.nih.gov/diseases/174/kuzniecky-andermann-syndrome Kuzniecky Andermann syndrome]
 
* '''[[Macromastia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9450/gigantomastia Gigantomastia]
 
* '''[https://rarediseases.info.nih.gov/diseases/12124/macrophage-activation-syndrome Macrophage activation syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/176/macrophagic-myofasciitis Macrophagic myofasciitis]
 
* '''[[Macrophagic myofasciitis, childhood]]'''
 
See [https://rarediseases.info.nih.gov/diseases/176/macrophagic-myofasciitis Macrophagic myofasciitis]
 
* '''[[Macrosomia microphthalmia cleft palate]]'''
 
See [https://rarediseases.info.nih.gov/diseases/177/macrosomia-with-lethal-microphthalmia Macrosomia with lethal microphthalmia]
 
* '''[https://rarediseases.info.nih.gov/diseases/177/macrosomia-with-lethal-microphthalmia Macrosomia with lethal microphthalmia]
 
* '''[[Macrosomia, obesity, macrocephaly, ocular abnormalities]]'''
 
See [https://rarediseases.info.nih.gov/diseases/178/momo-syndrome MOMO syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/179/macrothrombocytopenia-progressive-deafness Macrothrombocytopenia progressive deafness]
 
* '''[[Macrothrombocytopenia, familial Bernard-Soulier type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2470/giant-platelet-syndrome Giant platelet syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/12385/macrozoospermia Macrozoospermia]
 
* '''[[Macular coloboma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1436/coloboma-of-macula Coloboma of macula]
 
* '''[[Macular corneal dystrophy type 1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6953/macular-dystrophy-corneal-type-1 Macular dystrophy, corneal type 1]
 
* '''[https://rarediseases.info.nih.gov/diseases/10260/macular-degeneration Macular degeneration] ''- not a rare disease''
 
* '''[[Macular degeneration, polymorphic vitelline]]'''
 
See [https://rarediseases.info.nih.gov/diseases/182/best-vitelliform-macular-dystrophy Best vitelliform macular dystrophy]
 
* '''[[Macular dystrophy retinal 1 North Carolina type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9179/north-carolina-macular-dystrophy North Carolina macular dystrophy]
 
* '''[https://rarediseases.info.nih.gov/diseases/10120/macular-dystrophy-atypical-vitelliform Macular dystrophy, atypical vitelliform]
 
* '''[[Macular dystrophy, butterfly-shaped pigmentary]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9821/patterned-dystrophy-of-retinal-pigment-epithelium Patterned dystrophy of retinal pigment epithelium]
 
* '''[https://rarediseases.info.nih.gov/diseases/9887/macular-dystrophy-concentric-annular Macular dystrophy, concentric annular]
 
* '''[https://rarediseases.info.nih.gov/diseases/6953/macular-dystrophy-corneal-type-1 Macular dystrophy, corneal type 1]
 
* '''[[Macular dystrophy, hemorrhagic]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10511/fundus-dystrophy-pseudoinflammatory-of-sorsby Fundus dystrophy, pseudoinflammatory, of Sorsby]
 
* '''[[Macular dystrophy, vitelliform, adult-onset]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10909/adult-onset-vitelliform-macular-dystrophy Adult-onset vitelliform macular dystrophy]
 
* '''[https://rarediseases.info.nih.gov/diseases/10690/macular-telangiectasia-type-2 Macular telangiectasia type 2] ''- not a rare disease''
 
* '''[https://rarediseases.info.nih.gov/diseases/3347/macules-hereditary-congenital-hypopigmented-and-hyperpigmented Macules hereditary congenital hypopigmented and hyperpigmented]
 
* '''[https://rarediseases.info.nih.gov/diseases/12093/maculopapular-cutaneous-mastocytosis Maculopapular cutaneous mastocytosis] ''- not a rare disease''
 
* '''[[Maculopathy, bull's eye]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9887/macular-dystrophy-concentric-annular Macular dystrophy, concentric annular]
 
* '''[[MAD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/562/adrenomyodystrophy Adrenomyodystrophy]
 
* '''[[MAD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3562/metaphyseal-anadysplasia Metaphyseal anadysplasia]
 
* '''[[MAD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/11893/mandibuloacral-dysplasia Mandibuloacral dysplasia]
 
* '''[[MADA]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3374/mandibuloacral-dysplasia-with-type-a-lipodystrophy Mandibuloacral dysplasia with type A lipodystrophy]
 
* '''[[MADB]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9989/mandibuloacral-dysplasia-with-type-b-lipodystrophy Mandibuloacral dysplasia with type B lipodystrophy]
 
* '''[[MADD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6523/glutaric-acidemia-type-ii Glutaric acidemia type II]
 
* '''[https://rarediseases.info.nih.gov/diseases/12973/madelung-deformity Madelung deformity]
 
* '''[[Madelung disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6957/multiple-symmetric-lipomatosis Multiple symmetric lipomatosis]
 
* '''[[Madelung's disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6957/multiple-symmetric-lipomatosis Multiple symmetric lipomatosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/3348/madokoro-ohdo-sonoda-syndrome Madokoro Ohdo Sonoda syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/10742/madras-motor-neuron-disease Madras motor neuron disease] ''- not a rare disease''
 
* '''[[MADSAM]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13070/lewis-sumner-syndrome Lewis-Sumner syndrome]
 
* '''[[Madura foot]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3862/mycetoma Mycetoma]
 
* '''[[Mae infertility due to round-headed spermatozoa]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12502/globozoospermia Globozoospermia]
 
* '''[[Maeda syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10424/cerebral-autosomal-recessive-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy]
 
* '''[https://rarediseases.info.nih.gov/diseases/6958/maffucci-syndrome Maffucci syndrome]
 
* '''[[Maghrebian myopathy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2429/limb-girdle-muscular-dystrophy-type-2c Limb-girdle muscular dystrophy, type 2C]
 
* '''[https://rarediseases.info.nih.gov/diseases/13371/magic-syndrome MAGIC syndrome]
 
* '''[[Magnesium loss, isolated renal]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3350/renal-hypomagnesemia-2 Renal hypomagnesemia 2]
 
* '''[[Magnesium wasting, renal]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3350/renal-hypomagnesemia-2 Renal hypomagnesemia 2]
 
* '''[[MAHCJ]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12621/methylmalonic-acidemia-with-homocystinuria-type-cblj Methylmalonic acidemia with homocystinuria type cblJ]
 
* '''[https://rarediseases.info.nih.gov/diseases/10460/mahvash-disease Mahvash disease]
 
* '''[[MAI]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7123/mycobacterium-avium-complex-infections Mycobacterium Avium Complex infections]
 
* '''[[Mainzer Saldino syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8600/renal-dysplasia-retinal-pigmentary-dystrophy-cerebellar-ataxia-and-skeletal-dysplasia Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia]
 
* '''[[MAIS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10596/androgen-insensitivity-syndrome-mild Androgen insensitivity syndrome, mild]
 
* '''[https://rarediseases.info.nih.gov/diseases/10088/majeed-syndrome Majeed syndrome]
 
* '''[[Majewski osteodysplastic primordial dwarfism type II]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9844/microcephalic-osteodysplastic-primordial-dwarfism-type-2 Microcephalic osteodysplastic primordial dwarfism type 2]
 
* '''[[Majewski syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4833/short-rib-polydactyly-syndrome-majewski-type Short rib-polydactyly syndrome, Majewski type]
 
* '''[[Major affective disorder]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10249/bipolar-disorder Bipolar disorder] ''- not a rare disease''
 
* '''[[Major Aphthous Ulcer]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7714/sutton-disease-2 Sutton disease 2]
 
* '''[[Major Canker Sore]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7714/sutton-disease-2 Sutton disease 2]
 
* '''[[Major histocompatibility complex class 1 deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9548/mhc-class-1-deficiency MHC class 1 deficiency]
 
* '''[[Mal de debarquement]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6959/mal-de-debarquement-syndrome Mal de debarquement syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/6959/mal-de-debarquement-syndrome Mal de debarquement syndrome]
 
* '''[[Mal de Meleda]]'''
 
See [https://rarediseases.info.nih.gov/diseases/92/meleda-disease Meleda disease]
 
* '''[[Mal de Naxos]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9795/naxos-disease Naxos disease]
 
* '''[[Mal del Pinto]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7397/pinta Pinta]
 
* '''[[Malacoplakia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6960/malakoplakia Malakoplakia]
 
* '''[https://rarediseases.info.nih.gov/diseases/6960/malakoplakia Malakoplakia]
 
* '''[https://rarediseases.info.nih.gov/diseases/6961/malaria Malaria]
 
* '''[[Malayi tropical eosinphilia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3321/lymphatic-filariasis Lymphatic filariasis]
 
* '''[[Male breast cancer]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9312/breast-cancer-male Breast cancer, male]
 
* '''[[Male breast carcinoma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9312/breast-cancer-male Breast cancer, male]
 
* '''[[Male hypergonadotropic hypogonadism due to LHCGR defect]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3244/leydig-cell-hypoplasia Leydig cell hypoplasia]
 
* '''[[Male infertility due to globozoospermia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12502/globozoospermia Globozoospermia]
 
* '''[[Male infertility due to large-headed multiflagellar polyploid spermatozoa]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12385/macrozoospermia Macrozoospermia]
 
* '''[[Male infertility due to macrozoospermia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12385/macrozoospermia Macrozoospermia]
 
* '''[[Male infertility due to round-headed spermatozoa]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12502/globozoospermia Globozoospermia]
 
* '''[[MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12385/macrozoospermia Macrozoospermia]
 
* '''[https://rarediseases.info.nih.gov/diseases/12513/male-infertility-with-spermatogenesis-disorder-due-to-single-gene-mutation Male infertility with spermatogenesis disorder due to single gene mutation]
 
* '''[https://rarediseases.info.nih.gov/diseases/12514/male-infertility-with-teratozoospermia-due-to-single-gene-mutation Male infertility with teratozoospermia due to single gene mutation] ''- not a rare disease''
 
* '''[[Male pseudohermaphroditism due to 5-alpha-reductase deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5680/5-alpha-reductase-deficiency 5-alpha reductase deficiency]
 
* '''[https://rarediseases.info.nih.gov/diseases/3356/male-pseudohermaphroditism-due-to-defective-lh-molecule Male pseudohermaphroditism due to defective LH molecule]
 
* '''[[Male pseudohermaphroditism due to LH resistance or LHB deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3244/leydig-cell-hypoplasia Leydig cell hypoplasia]
 
* '''[[Male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3244/leydig-cell-hypoplasia Leydig cell hypoplasia]
 
* '''[https://rarediseases.info.nih.gov/diseases/4550/male-pseudohermaphroditism-intellectual-disability-syndrome-verloes-type Male pseudohermaphroditism intellectual disability syndrome, Verloes type]
 
* '''[[Male pseudoherma-phroditism with gynecomastia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5659/17-beta-hydroxysteroid-dehydrogenase-3-deficiency 17-beta hydroxysteroid dehydrogenase 3 deficiency]
 
* '''[[Male sterility due to Y-chromosome deletions]]'''
 
See [https://rarediseases.info.nih.gov/diseases/185/y-chromosome-infertility Y chromosome infertility]
 
* '''[[Male Turner Syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10955/noonan-syndrome Noonan syndrome]
 
* '''[[Malignant acrospiroma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10439/hidradenocarcinoma Hidradenocarcinoma]
 
* '''[https://rarediseases.info.nih.gov/diseases/6249/malignant-atrophic-papulosis Malignant Atrophic Papulosis]
 
* '''[[Malignant clear cell acrospiroma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10439/hidradenocarcinoma Hidradenocarcinoma]
 
* '''[https://rarediseases.info.nih.gov/diseases/10464/malignant-cylindroma Malignant cylindroma]
 
* '''[[Malignant eccrine poroma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7431/eccrine-porocarcinoma Eccrine porocarcinoma]
 
* '''[https://rarediseases.info.nih.gov/diseases/10466/malignant-eccrine-spiradenoma Malignant eccrine spiradenoma]
 
* '''[https://rarediseases.info.nih.gov/diseases/12279/malignant-ectomesenchymoma Malignant ectomesenchymoma]
 
* '''[[Malignant edema]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8157/anthrax Anthrax]
 
* '''[[Malignant fibrohistiocytic tumors]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6963/undifferentiated-pleomorphic-sarcoma Undifferentiated pleomorphic sarcoma]
 
* '''[[Malignant fibrous histiocytoma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6963/undifferentiated-pleomorphic-sarcoma Undifferentiated pleomorphic sarcoma]
 
* '''[https://rarediseases.info.nih.gov/diseases/3360/malignant-germ-cell-tumor Malignant germ cell tumor]
 
* '''[[Malignant hyperpyrexia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6964/malignant-hyperthermia Malignant hyperthermia]
 
* '''[[Malignant hyperpyrexia susceptibility type 2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3364/malignant-hyperthermia-susceptibility-type-2 Malignant hyperthermia susceptibility type 2]
 
* '''[[Malignant hyperpyrexia susceptibility type 3]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3365/malignant-hyperthermia-susceptibility-type-3 Malignant hyperthermia susceptibility type 3]
 
* '''[[Malignant hyperpyrexia susceptibility type 4]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3366/malignant-hyperthermia-susceptibility-type-4 Malignant hyperthermia susceptibility type 4]
 
* '''[[Malignant hyperpyrexia susceptibility type 5]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3367/malignant-hyperthermia-susceptibility-type-5 Malignant hyperthermia susceptibility type 5]
 
* '''[[Malignant hyperpyrexia susceptibility type 6]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3368/malignant-hyperthermia-susceptibility-type-6 Malignant hyperthermia susceptibility type 6]
 
* '''[https://rarediseases.info.nih.gov/diseases/6964/malignant-hyperthermia Malignant hyperthermia]
 
* '''[[Malignant hyperthermia - arthrogryposis - torticollis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3361/malignant-hyperthermia-arthrogryposis-torticollis Malignant hyperthermia arthrogryposis torticollis]
 
* '''[https://rarediseases.info.nih.gov/diseases/3361/malignant-hyperthermia-arthrogryposis-torticollis Malignant hyperthermia arthrogryposis torticollis]
 
* '''[https://rarediseases.info.nih.gov/diseases/3363/malignant-hyperthermia-susceptibility-type-1 Malignant hyperthermia susceptibility type 1]
 
* '''[https://rarediseases.info.nih.gov/diseases/3364/malignant-hyperthermia-susceptibility-type-2 Malignant hyperthermia susceptibility type 2]
 
* '''[https://rarediseases.info.nih.gov/diseases/3365/malignant-hyperthermia-susceptibility-type-3 Malignant hyperthermia susceptibility type 3]
 
* '''[https://rarediseases.info.nih.gov/diseases/3366/malignant-hyperthermia-susceptibility-type-4 Malignant hyperthermia susceptibility type 4]
 
* '''[https://rarediseases.info.nih.gov/diseases/3367/malignant-hyperthermia-susceptibility-type-5 Malignant hyperthermia susceptibility type 5]
 
* '''[https://rarediseases.info.nih.gov/diseases/3368/malignant-hyperthermia-susceptibility-type-6 Malignant hyperthermia susceptibility type 6]
 
* '''[[Malignant islet cell tumor]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4900/somatostatinoma Somatostatinoma]
 
* '''[[Malignant Langerhans cell sarcoma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10491/langerhans-cell-sarcoma Langerhans cell sarcoma]
 
* '''[[Malignant melanoma of the gastrointestinal tract]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10409/digestive-system-melanoma Digestive System Melanoma]
 
* '''[https://rarediseases.info.nih.gov/diseases/91/malignant-melanoma-childhood Malignant melanoma, childhood]
 
* '''[[Malignant mesenchymal tumor]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3369/malignant-mesenchymoma Malignant mesenchymoma]
 
* '''[https://rarediseases.info.nih.gov/diseases/3369/malignant-mesenchymoma Malignant mesenchymoma]
 
* '''[https://rarediseases.info.nih.gov/diseases/7026/malignant-mesothelioma Malignant mesothelioma]
 
* '''[[Malignant migrating focal seizures of infancy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12919/malignant-migrating-partial-seizures-of-infancy Malignant migrating partial seizures of infancy]
 
* '''[[Malignant migrating partial epilepsy of infancy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12919/malignant-migrating-partial-seizures-of-infancy Malignant migrating partial seizures of infancy]
 
* '''[https://rarediseases.info.nih.gov/diseases/12919/malignant-migrating-partial-seizures-of-infancy Malignant migrating partial seizures of infancy]
 
* '''[https://rarediseases.info.nih.gov/diseases/6966/malignant-mixed-mullerian-tumor Malignant mixed Mullerian tumor]
 
* '''[[Malignant mixed müllerian tumor of corpus uteri]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12335/uterine-carcinosarcoma Uterine Carcinosarcoma]
 
* '''[[Malignant mixed Müllerian tumor of the corpus uteri]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12335/uterine-carcinosarcoma Uterine Carcinosarcoma]
 
* '''[[Malignant mixed mullerian tumor of the ovary]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7296/ovarian-carcinosarcoma Ovarian carcinosarcoma]
 
* '''[[Malignant mixed Müllerian tumor of the ovary]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7296/ovarian-carcinosarcoma Ovarian carcinosarcoma]
 
* '''[[Malignant myoepithelioma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10558/myoepithelial-carcinoma Myoepithelial carcinoma]
 
* '''[[Malignant neoplasms of the small intestine]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9385/small-intestine-cancer Small intestine cancer]
 
* '''[[Malignant neurilemmoma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10872/malignant-peripheral-nerve-sheath-tumor Malignant peripheral nerve sheath tumor]
 
* '''[[Malignant neurofibroma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10872/malignant-peripheral-nerve-sheath-tumor Malignant peripheral nerve sheath tumor]
 
* '''[[Malignant nodular/clear cell hidradenoma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10439/hidradenocarcinoma Hidradenocarcinoma]
 
* '''[[Malignant paroxysmal ventricular tachycardia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4421/catecholaminergic-polymorphic-ventricular-tachycardia Catecholaminergic polymorphic ventricular tachycardia]
 
* '''[https://rarediseases.info.nih.gov/diseases/10872/malignant-peripheral-nerve-sheath-tumor Malignant peripheral nerve sheath tumor]
 
* '''[[Malignant phyllodes tumor of prostate (subtype)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9404/phyllodes-tumor-of-the-prostate Phyllodes tumor of the prostate]
 
* '''[[Malignant pustule]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8157/anthrax Anthrax]
 
* '''[[Malignant rhabdoid tumor]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7572/rhabdoid-tumor Rhabdoid tumor]
 
* '''[[Malignant schwannoma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10872/malignant-peripheral-nerve-sheath-tumor Malignant peripheral nerve sheath tumor]
 
* '''[https://rarediseases.info.nih.gov/diseases/7744/malignant-teratocarcinosarcoma Malignant Teratocarcinosarcoma]
 
* '''[[Malignant tumors of the central nervous system associated with familial polyposis of the colon]]'''
 
See [https://rarediseases.info.nih.gov/diseases/420/turcot-syndrome Turcot syndrome]
 
* '''[[Malignant variant of Abrikosov's tumor]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9618/granular-cell-tumor Granular cell tumor]
 
* '''[[Mallory-Weiss laceration]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6967/mallory-weiss-syndrome Mallory-Weiss syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/6967/mallory-weiss-syndrome Mallory-Weiss syndrome]
 
* '''[[Mallory-Weiss tear]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6967/mallory-weiss-syndrome Mallory-Weiss syndrome]
 
* '''[[Malonic acidemia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3371/malonyl-coa-decarboxylase-deficiency Malonyl-CoA decarboxylase deficiency]
 
* '''[[Malonic aciduria]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3371/malonyl-coa-decarboxylase-deficiency Malonyl-CoA decarboxylase deficiency]
 
* '''[[Malonicaciduria]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3371/malonyl-coa-decarboxylase-deficiency Malonyl-CoA decarboxylase deficiency]
 
* '''[https://rarediseases.info.nih.gov/diseases/3371/malonyl-coa-decarboxylase-deficiency Malonyl-CoA decarboxylase deficiency]
 
* '''[[Malouf syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3373/dilated-cardiomyopathy-with-hypergonadotropic-hypogonadism Dilated cardiomyopathy with hypergonadotropic hypogonadism]
 
* '''[[Malpuech-Michels-Mingarelli-Carnevale syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1118/3mc-syndrome 3MC syndrome]
 
* '''[[MALS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12308/celiac-artery-compression-syndrome Celiac artery compression syndrome]
 
* '''[[Malta fever]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5966/brucellosis Brucellosis]
 
* '''[[Mammary hypoplasia, ectrodactyly, and other hand/foot anomalies]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10051/limb-mammary-syndrome Limb-mammary syndrome]
 
* '''[[Mammary Paget's disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7303/paget-disease-of-the-breast Paget disease of the breast]
 
* '''[[Mammary pseudoangiomatous stromal hyperplasia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9410/pseudoangiomatous-stromal-hyperplasia Pseudoangiomatous stromal hyperplasia] ''- not a rare disease''
 
* '''[https://rarediseases.info.nih.gov/diseases/12417/man1b1-cdg MAN1B1-CDG]
 
* '''[[Man5GlcNAc2-PP-Dol flippase deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12394/rft1-cdg-cdg-in RFT1-CDG (CDG-In)]
 
* '''[[Mandibular hypoplasia, deafness, progeroid features]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10989/mandibular-hypoplasia-deafness-progeroid-features-and-lipodystrophy-syndrome Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/10989/mandibular-hypoplasia-deafness-progeroid-features-and-lipodystrophy-syndrome Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome]
 
* '''[[Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10989/mandibular-hypoplasia-deafness-progeroid-features-and-lipodystrophy-syndrome Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome]
 
* '''[[Mandibular hypoplasia-deafness-progeroid syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10989/mandibular-hypoplasia-deafness-progeroid-features-and-lipodystrophy-syndrome Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome]
 
* '''[[Mandibular hypoplasia-hearing loss-progeroid syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10989/mandibular-hypoplasia-deafness-progeroid-features-and-lipodystrophy-syndrome Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/11893/mandibuloacral-dysplasia Mandibuloacral dysplasia]
 
* '''[[Mandibuloacral dysplasia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/562/adrenomyodystrophy Adrenomyodystrophy]
 
* '''[https://rarediseases.info.nih.gov/diseases/3374/mandibuloacral-dysplasia-with-type-a-lipodystrophy Mandibuloacral dysplasia with type A lipodystrophy]
 
* '''[https://rarediseases.info.nih.gov/diseases/9989/mandibuloacral-dysplasia-with-type-b-lipodystrophy Mandibuloacral dysplasia with type B lipodystrophy]
 
* '''[[Mandibulofacial dysostosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9124/treacher-collins-syndrome Treacher Collins syndrome]
 
* '''[[Mandibulofacial dysostosis Toriello type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1002/branchial-arch-syndrome-x-linked Branchial arch syndrome X-linked]
 
* '''[https://rarediseases.info.nih.gov/diseases/10056/mandibulofacial-dysostosis-with-microcephaly Mandibulofacial dysostosis with microcephaly]
 
* '''[[Mandibulofacial dysostosis, Guion-Almeida type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10056/mandibulofacial-dysostosis-with-microcephaly Mandibulofacial dysostosis with microcephaly]
 
* '''[[Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9125/treacher-collins-syndrome-3 Treacher Collins syndrome 3]
 
* '''[[Mandibulofacial dysostosis, Treacher Collins type, with limb anomalies]]'''
 
See [https://rarediseases.info.nih.gov/diseases/498/nager-acrofacial-dysostosis Nager acrofacial dysostosis]
 
* '''[[Mandibulofacial dysostosis-microcephaly syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10056/mandibulofacial-dysostosis-with-microcephaly Mandibulofacial dysostosis with microcephaly]
 
* '''[[Manic depression]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10249/bipolar-disorder Bipolar disorder] ''- not a rare disease''
 
* '''[[Manic-depressive psychosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10249/bipolar-disorder Bipolar disorder] ''- not a rare disease''
 
* '''[https://rarediseases.info.nih.gov/diseases/3395/manitoba-oculotrichoanal-syndrome Manitoba oculotrichoanal syndrome]
 
* '''[[Manitoba Trichoanal syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3395/manitoba-oculotrichoanal-syndrome Manitoba oculotrichoanal syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/10309/mannose-binding-lectin-protein-deficiency Mannose-binding lectin protein deficiency] ''- not a rare disease''
 
* '''[[Mannose-binding protein deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10309/mannose-binding-lectin-protein-deficiency Mannose-binding lectin protein deficiency] ''- not a rare disease''
 
* '''[[Mannosephosphate isomerase deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9830/mpi-cdg-cdg-ib MPI-CDG (CDG-Ib)]
 
* '''[[Mannosidosis, alpha B lysosomal]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6968/alpha-mannosidosis Alpha-mannosidosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/869/mannosidosis-beta-a-lysosomal Mannosidosis, beta A, lysosomal]
 
* '''[[Mannosyltransferase 1 deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9838/alg1-cdg-cdg-ik ALG1-CDG (CDG-Ik)]
 
* '''[[Mannosyltransferase 2 deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9836/alg2-cdg-cdg-ii ALG2-CDG (CDG-Ii)]
 
* '''[[Mannosyltransferase 6 deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9827/alg3-cdg-cdg-id ALG3-CDG (CDG-Id)]
 
* '''[[Mannosyltransferase 7-9 deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9839/alg9-cdg-cdg-il ALG9-CDG (CDG-IL)]
 
* '''[[Mannosyltransferase 8 deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9833/alg12-cdg-cdg-ig ALG12-CDG (CDG-Ig)]
 
* '''[https://rarediseases.info.nih.gov/diseases/3378/manouvrier-syndrome Manouvrier syndrome]
 
* '''[[Mansonella perstans]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4/acanthocheilonemiasis Acanthocheilonemiasis]
 
* '''[[Mansonella perstans infections]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8216/mansonelliasis Mansonelliasis]
 
* '''[https://rarediseases.info.nih.gov/diseases/8216/mansonelliasis Mansonelliasis]
 
* '''[[Mansonellosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8216/mansonelliasis Mansonelliasis]
 
* '''[https://rarediseases.info.nih.gov/diseases/6969/mantle-cell-lymphoma Mantle cell lymphoma]
 
* '''[[MAP syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10805/myh-associated-polyposis MYH-associated polyposis]
 
* '''[[Map-dot-fingerprint dystrophy of cornea]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9732/epithelial-basement-membrane-corneal-dystrophy Epithelial basement membrane corneal dystrophy]
 
* '''[https://rarediseases.info.nih.gov/diseases/3228/maple-syrup-urine-disease Maple syrup urine disease]
 
* '''[https://rarediseases.info.nih.gov/diseases/8594/maple-syrup-urine-disease-type-1a Maple syrup urine disease type 1A]
 
* '''[https://rarediseases.info.nih.gov/diseases/8597/maple-syrup-urine-disease-type-1b Maple syrup urine disease type 1B]
 
* '''[https://rarediseases.info.nih.gov/diseases/8596/maple-syrup-urine-disease-type-2 Maple syrup urine disease type 2]
 
* '''[[Maple syrup urine disease, type III]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3263/dihydrolipoamide-dehydrogenase-deficiency Dihydrolipoamide dehydrogenase deficiency]
 
* '''[[MAR]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8723/5q--syndrome 5q- syndrome]
 
* '''[[Marble bone disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4155/osteopetrosis Osteopetrosis]
 
* '''[[Marble bones]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4155/osteopetrosis Osteopetrosis]
 
* '''[[Marble bones autosomal recessive]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2579/osteopetrosis-autosomal-recessive-1 Osteopetrosis autosomal recessive 1]
 
* '''[[Marble brain disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4154/osteopetrosis-autosomal-recessive-3 Osteopetrosis autosomal recessive 3]
 
* '''[[Marburg disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9444/marburg-hemorrhagic-fever Marburg hemorrhagic fever]
 
* '''[https://rarediseases.info.nih.gov/diseases/9444/marburg-hemorrhagic-fever Marburg hemorrhagic fever]
 
* '''[[Marburg variant]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5885/tumefactive-multiple-sclerosis Tumefactive multiple sclerosis]
 
* '''[[Marburg virus disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9444/marburg-hemorrhagic-fever Marburg hemorrhagic fever]
 
* '''[https://rarediseases.info.nih.gov/diseases/6971/marchiafava-bignami-disease Marchiafava Bignami disease]
 
* '''[[Marchiafava-Micheli disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7337/paroxysmal-nocturnal-hemoglobinuria Paroxysmal nocturnal hemoglobinuria]
 
* '''[https://rarediseases.info.nih.gov/diseases/6972/marcus-gunn-phenomenon Marcus Gunn phenomenon]
 
* '''[[Marcus Gunn syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6972/marcus-gunn-phenomenon Marcus Gunn phenomenon]
 
* '''[https://rarediseases.info.nih.gov/diseases/3382/marden-walker-like-syndrome Marden Walker like syndrome]
 
* '''[[Marden Walker like syndrome without psychomotor retardation]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3382/marden-walker-like-syndrome Marden Walker like syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/6973/marden-walker-syndrome Marden-Walker syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/6974/marek-disease Marek disease]
 
* '''[[Marek's Disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6974/marek-disease Marek disease]
 
* '''[https://rarediseases.info.nih.gov/diseases/6975/marfan-syndrome Marfan syndrome]
 
* '''[[Marfanoid craniosynostosis syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4861/shprintzen-goldberg-craniosynostosis-syndrome Shprintzen-Goldberg craniosynostosis syndrome]
 
* '''[[Marfanoid disorder with craniosynostosis type 1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4861/shprintzen-goldberg-craniosynostosis-syndrome Shprintzen-Goldberg craniosynostosis syndrome]
 
* '''[[Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3307/lujan-syndrome Lujan syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3388/marfanoid-habitus-autosomal-recessive-intellectual-disability-syndrome Marfanoid habitus-autosomal recessive intellectual disability syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3387/marfanoid-hypermobility-syndrome Marfanoid hypermobility syndrome]
 
* '''[[Marfanoid-craniosynostosis syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4861/shprintzen-goldberg-craniosynostosis-syndrome Shprintzen-Goldberg craniosynostosis syndrome]
 
* '''[[Marginal alopecia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5782/alopecia-areata Alopecia areata] ''- not a rare disease''
 
* '''[https://rarediseases.info.nih.gov/diseases/3389/marginal-glioneuronal-heterotopia Marginal glioneuronal heterotopia]
 
* '''[https://rarediseases.info.nih.gov/diseases/13237/marginal-zone-lymphoma Marginal zone lymphoma]
 
* '''[[Mari type Alopecia universalis congenita]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8178/total-hypotrichosis-mari-type Total Hypotrichosis, Mari type]
 
* '''[https://rarediseases.info.nih.gov/diseases/3390/marie-unna-congenital-hypotrichosis Marie Unna congenital hypotrichosis]
 
* '''[[Marie Unna hereditary hypotrichosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3390/marie-unna-congenital-hypotrichosis Marie Unna congenital hypotrichosis]
 
* '''[[Marie-Sainton disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6118/cleidocranial-dysplasia Cleidocranial dysplasia]
 
* '''[[Marie-Strumpell spondylitis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9518/ankylosing-spondylitis Ankylosing spondylitis] ''- not a rare disease''
 
* '''[[Marinesco-Garland Syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8341/marinesco-sjogren-syndrome Marinesco-Sjogren syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/8341/marinesco-sjogren-syndrome Marinesco-Sjogren syndrome]
 
* '''[[Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8341/marinesco-sjogren-syndrome Marinesco-Sjogren syndrome]
 
* '''[[Marinesco-Sjogren Syndrome-Myopathy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8341/marinesco-sjogren-syndrome Marinesco-Sjogren syndrome]
 
* '''[[Marinesco-Sjogren-Garland Syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8341/marinesco-sjogren-syndrome Marinesco-Sjogren syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/8745/marinesco-sjogren-like-syndrome-msls Marinesco-Sjogren-like syndrome (MSLS)]
 
* '''[[Marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2562/gray-platelet-syndrome Gray platelet syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3393/markel-vikkula-mulliken-syndrome Markel Vikkula Mulliken syndrome]
 
* '''[[Marker X syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6464/fragile-x-syndrome Fragile X syndrome]
 
* '''[[Marles syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3395/manitoba-oculotrichoanal-syndrome Manitoba oculotrichoanal syndrome]
 
* '''[[Marles-Greenberg-Persaud syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3395/manitoba-oculotrichoanal-syndrome Manitoba oculotrichoanal syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3397/maroteaux-fonfria-syndrome Maroteaux Fonfria syndrome]
 
* '''[[Maroteaux Lamy syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7095/mucopolysaccharidosis-type-vi Mucopolysaccharidosis type VI]
 
* '''[[Maroteaux Le Merrer Bensahel syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1128/carpotarsal-osteochondromatosis Carpotarsal osteochondromatosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/3399/maroteaux-stanescu-cousin-syndrome Maroteaux Stanescu Cousin syndrome]
 
* '''[[Maroteaux Verloes Stanescu syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3562/metaphyseal-anadysplasia Metaphyseal anadysplasia]
 
* '''[[Maroteaux-Malamut syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5724/acrodysostosis Acrodysostosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/3401/marphanoid-syndrome-type-de-silva Marphanoid syndrome type De Silva]
 
* '''[[Marrow hypoplasia associated with congenital neurologic anomalies]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1913/drachtman-weinblatt-sitarz-syndrome Drachtman Weinblatt Sitarz syndrome]
 
* '''[[Marsden syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8476/leber-hereditary-optic-neuropathy-with-dystonia Leber hereditary optic neuropathy with dystonia]
 
* '''[https://rarediseases.info.nih.gov/diseases/6984/marshall-syndrome Marshall syndrome]
 
* '''[[Marshall Syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5657/periodic-fever-aphthous-stomatitis-pharyngitis-and-adenitis Periodic fever, aphthous stomatitis, pharyngitis and adenitis]
 
* '''[https://rarediseases.info.nih.gov/diseases/6985/marshall-smith-syndrome Marshall-Smith syndrome]
 
* '''[[Martin-Bell syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6464/fragile-x-syndrome Fragile X syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3404/martinez-monasterio-pinheiro-syndrome Martinez Monasterio Pinheiro syndrome]
 
* '''[[Martinez-Frias syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5237/hypoplastic-pancreas-intestinal-atresia-hypoplastic-gallbladder-syndrome Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3406/martsolf-syndrome Martsolf syndrome]
 
* '''[[MAS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6995/mccune-albright-syndrome McCune-Albright syndrome]
 
* '''[[MAS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10494/meconium-aspiration-syndrome Meconium aspiration syndrome]
 
* '''[[MASA syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6986/spastic-paraplegia-1 Spastic paraplegia 1]
 
* '''[[Mason type diabetes]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3697/maturity-onset-diabetes-of-the-young Maturity-onset diabetes of the young]
 
* '''[https://rarediseases.info.nih.gov/diseases/8489/mass-phenotype MASS phenotype]
 
* '''[[MASS syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8489/mass-phenotype MASS phenotype]
 
* '''[https://rarediseases.info.nih.gov/diseases/3407/massa-casaer-ceulemans-syndrome Massa Casaer Ceulemans syndrome]
 
* '''[[Massive macronodular adrenocortical disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10824/acth-independent-macronodular-adrenal-hyperplasia ACTH-independent macronodular adrenal hyperplasia]
 
* '''[[Masson's pseudoangiosarcoma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10733/intravascular-papillary-endothelial-hyperplasia Intravascular papillary endothelial hyperplasia]
 
* '''[[Masson's tumor]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10733/intravascular-papillary-endothelial-hyperplasia Intravascular papillary endothelial hyperplasia]
 
* '''[[Masson's vegetant intravascular hemangio-endothelioma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10733/intravascular-papillary-endothelial-hyperplasia Intravascular papillary endothelial hyperplasia]
 
* '''[https://rarediseases.info.nih.gov/diseases/12981/mast-cell-activation-syndrome Mast cell activation syndrome]
 
* '''[[Mast cell disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6987/mastocytosis Mastocytosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/10176/mastocytic-enterocolitis Mastocytic enterocolitis]
 
* '''[[Mastocytoma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7842/cutaneous-mastocytosis Cutaneous mastocytosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/6987/mastocytosis Mastocytosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/3409/mastocytosis-cutaneous-with-short-stature-conductive-hearing-loss-and-microtia Mastocytosis cutaneous with short stature conductive hearing loss and microtia]
 
* '''[[MAT deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8397/methionine-adenosyltransferase-deficiency Methionine adenosyltransferase deficiency]
 
* '''[https://rarediseases.info.nih.gov/diseases/3413/maternal-hyperphenylalaninemia Maternal hyperphenylalaninemia]
 
* '''[[Maternal phenylketonuria]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3413/maternal-hyperphenylalaninemia Maternal hyperphenylalaninemia]
 
* '''[[Maternal uniparental disomy of chromosome 14]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13431/temple-syndrome Temple syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/4003/maternally-inherited-diabetes-and-deafness Maternally inherited diabetes and deafness]
 
* '''[[Maternally inherited Leigh syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3671/mitochondrial-dna-associated-leigh-syndrome Mitochondrial DNA-associated Leigh syndrome]
 
* '''[[Maternofetal infection by parvovirus]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4236/parvovirus-antenatal-infection Parvovirus antenatal infection]
 
* '''[[Mathieu-De Broca-Bony syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1392/cleft-palate-short-stature-vertebral-anomalies Cleft palate short stature vertebral anomalies]
 
* '''[[Matthew Wood syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/713/microphthalmia-syndromic-9 Microphthalmia syndromic 9]
 
* '''[https://rarediseases.info.nih.gov/diseases/3697/maturity-onset-diabetes-of-the-young Maturity-onset diabetes of the young]
 
* '''[[Maturity-onset diabetes of the young, type 1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3697/maturity-onset-diabetes-of-the-young Maturity-onset diabetes of the young]
 
* '''[[Maturity-onset diabetes of the young, type 2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3697/maturity-onset-diabetes-of-the-young Maturity-onset diabetes of the young]
 
* '''[[Maturity-onset diabetes of the young, type 3]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3697/maturity-onset-diabetes-of-the-young Maturity-onset diabetes of the young]
 
* '''[[Maturity-onset diabetes of the young, type 4]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3697/maturity-onset-diabetes-of-the-young Maturity-onset diabetes of the young]
 
* '''[[Maturity-onset diabetes of the young, type 5]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3697/maturity-onset-diabetes-of-the-young Maturity-onset diabetes of the young]
 
* '''[[Maturity-onset diabetes of the young, type 6]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3697/maturity-onset-diabetes-of-the-young Maturity-onset diabetes of the young]
 
* '''[[Maturity-onset diabetes of the young, type 7]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3697/maturity-onset-diabetes-of-the-young Maturity-onset diabetes of the young]
 
* '''[[Maturity-onset diabetes of the young, type 8]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3697/maturity-onset-diabetes-of-the-young Maturity-onset diabetes of the young]
 
* '''[[Maturity-onset diabetes of the young, type 8, with exocrine dysfunction]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3697/maturity-onset-diabetes-of-the-young Maturity-onset diabetes of the young]
 
* '''[[Maturity-onset diabetes of the young, type 9]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3697/maturity-onset-diabetes-of-the-young Maturity-onset diabetes of the young]
 
* '''[[Maumenee corneal dystrophy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6196/corneal-endothelial-dystrophy-type-2 Corneal endothelial dystrophy type 2]
 
* '''[https://rarediseases.info.nih.gov/diseases/202/maxillary-double-lip Maxillary double lip]
 
* '''[https://rarediseases.info.nih.gov/diseases/6991/maxillofacial-dysostosis Maxillofacial dysostosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/6992/maxillonasal-dysplasia-binder-type Maxillonasal dysplasia, Binder type]
 
* '''[[Maxillopalpebral synkinesis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6972/marcus-gunn-phenomenon Marcus Gunn phenomenon]
 
* '''[[May Thurner syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12141/may-thurner-syndrome May-Thurner syndrome]
 
* '''[[Mayer-Rokitansky-Küster-Hauser syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7100/mullerian-aplasia Mullerian aplasia]
 
* '''[[Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7100/mullerian-aplasia Mullerian aplasia]
 
* '''[[May-Hegglin anomaly]]'''
 
See [https://rarediseases.info.nih.gov/diseases/180/myh9-related-thrombocytopenia MYH9 related thrombocytopenia]
 
* '''[https://rarediseases.info.nih.gov/diseases/12141/may-thurner-syndrome May-Thurner syndrome]
 
* '''[[MBA]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5896/migraine-with-brainstem-aura Migraine with brainstem aura]
 
* '''[[MBD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6971/marchiafava-bignami-disease Marchiafava Bignami disease]
 
* '''[https://rarediseases.info.nih.gov/diseases/12852/mbd25-related-intellectual-disability MBD25–related intellectual disability]
 
* '''[[MBD5 Haploinsufficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12852/mbd25-related-intellectual-disability MBD25–related intellectual disability]
 
* '''[[MBL deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10309/mannose-binding-lectin-protein-deficiency Mannose-binding lectin protein deficiency] ''- not a rare disease''
 
* '''[[MBS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8549/moebius-syndrome Moebius syndrome]
 
* '''[[MBS2 (formerly)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8583/hereditary-congenital-facial-paresis Hereditary congenital facial paresis]
 
* '''[[MCA due to 14q32.2 maternally expressed gene defect]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5409/paternal-uniparental-disomy-of-chromosome-14 Paternal uniparental disomy of chromosome 14]
 
* '''[[MCA/MR syndrome with hypocholesterolemia due to familial hypobetalipoproteinemia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9754/nguyen-syndrome Nguyen syndrome]
 
* '''[[MCAD deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/540/medium-chain-acyl-coenzyme-a-dehydrogenase-deficiency Medium-chain acyl-coenzyme A dehydrogenase deficiency]
 
* '''[[MCADD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/540/medium-chain-acyl-coenzyme-a-dehydrogenase-deficiency Medium-chain acyl-coenzyme A dehydrogenase deficiency]
 
* '''[[MCADH deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/540/medium-chain-acyl-coenzyme-a-dehydrogenase-deficiency Medium-chain acyl-coenzyme A dehydrogenase deficiency]
 
* '''[[MCAHS type 2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12777/multiple-congenital-anomalies-hypotonia-seizures-syndrome-type-2 Multiple congenital anomalies-hypotonia-seizures syndrome type 2]
 
* '''[[MCAHS1 - Another name for Multiple congenital anomalies-hypotonia-seizures syndrome
 
* '''[[MCAHS2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12777/multiple-congenital-anomalies-hypotonia-seizures-syndrome-type-2 Multiple congenital anomalies-hypotonia-seizures syndrome type 2]
 
* '''[[McAlister Coe Whyte syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/173/macroepiphyseal-dysplasia-with-osteoporosis-wrinkled-skin-and-aged-appearance Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance]
 
* '''[[McArdle disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6528/glycogen-storage-disease-type-5 Glycogen storage disease type 5]
 
* '''[[McArdle type glycogen storage disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6528/glycogen-storage-disease-type-5 Glycogen storage disease type 5]
 
* '''[[MCAS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12981/mast-cell-activation-syndrome Mast cell activation syndrome]
 
* '''[[MCC 1 deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5665/3-methylcrotonyl-coa-carboxylase-1-deficiency 3 Methylcrotonyl-CoA carboxylase 1 deficiency]
 
* '''[[MCC 2 deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9151/3-alpha-methylcrotonyl-coa-carboxylase-2-deficiency 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency]
 
* '''[[MCC deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10954/3-methylcrotonyl-coa-carboxylase-deficiency 3-methylcrotonyl-CoA carboxylase deficiency]
 
* '''[[Mccabe disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9168/polyostotic-osteolytic-dysplasia-hereditary-expansile Polyostotic osteolytic dysplasia, hereditary expansile]
 
* '''[[MCCD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10954/3-methylcrotonyl-coa-carboxylase-deficiency 3-methylcrotonyl-CoA carboxylase deficiency]
 
* '''[[McCune Albright syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6995/mccune-albright-syndrome McCune-Albright syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/6995/mccune-albright-syndrome McCune-Albright syndrome]
 
* '''[[MCD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3824/multiple-carboxylase-deficiency Multiple carboxylase deficiency]
 
* '''[[MCD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9644/multicentric-castleman-disease Multicentric Castleman Disease]
 
* '''[[MCD deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3371/malonyl-coa-decarboxylase-deficiency Malonyl-CoA decarboxylase deficiency]
 
* '''[[MCDC1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6953/macular-dystrophy-corneal-type-1 Macular dystrophy, corneal type 1]
 
* '''[[MCDCA]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9887/macular-dystrophy-concentric-annular Macular dystrophy, concentric annular]
 
* '''[https://rarediseases.info.nih.gov/diseases/3424/mcdonough-syndrome McDonough syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3425/mcdowall-syndrome McDowall syndrome]
 
* '''[[MCDR1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9179/north-carolina-macular-dystrophy North Carolina macular dystrophy]
 
* '''[[MCDS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3563/metaphyseal-chondrodysplasia-spahr-type Metaphyseal chondrodysplasia Spahr type]
 
* '''[[MCDS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7029/metaphyseal-chondrodysplasia-schmid-type Metaphyseal chondrodysplasia Schmid type]
 
* '''[[McDuffie hypocomplementemic urticarial vasculitis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6725/hypocomplementemic-urticarial-vasculitis Hypocomplementemic urticarial vasculitis]
 
* '''[[McDuffie syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6725/hypocomplementemic-urticarial-vasculitis Hypocomplementemic urticarial vasculitis]
 
* '''[[mcEDS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8486/musculocontractural-ehlers-danlos-syndrome Musculocontractural Ehlers-Danlos syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3426/mcgillivray-syndrome McGillivray syndrome]
 
* '''[[Mcgrath syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9705/ectodermal-dysplasia-skin-fragility-syndrome Ectodermal dysplasia skin fragility syndrome]
 
* '''[[MCKAT deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10329/medium-chain-3-ketoacyl-coa-thiolase-deficiency Medium-chain 3-ketoacyl-coa thiolase deficiency]
 
* '''[[MCKD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10801/autosomal-dominant-tubulointerstitial-kidney-disease Autosomal dominant tubulointerstitial kidney disease]
 
* '''[[MCKD1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7002/autosomal-dominant-tubulointerstitial-kidney-disease-due-to-muc1-mutations Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations]
 
* '''[[MCKD2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10679/autosomal-dominant-tubulointerstitial-kidney-disease-due-to-umod-mutations Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations]
 
* '''[https://rarediseases.info.nih.gov/diseases/3427/mckusick-kaufman-syndrome McKusick Kaufman syndrome]
 
* '''[[MCL]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10096/hereditary-leiomyomatosis-and-renal-cell-cancer Hereditary leiomyomatosis and renal cell cancer]
 
* '''[https://rarediseases.info.nih.gov/diseases/10731/mcleod-neuroacanthocytosis-syndrome McLeod neuroacanthocytosis syndrome]
 
* '''[[McLeod syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10731/mcleod-neuroacanthocytosis-syndrome McLeod neuroacanthocytosis syndrome]
 
* '''[[M-CM]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6950/megalencephaly-capillary-malformation-syndrome Megalencephaly-capillary malformation syndrome]
 
* '''[[MCM Deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3586/methylmalonyl-coenzyme-a-mutase-deficiency Methylmalonyl-Coenzyme A mutase deficiency]
 
* '''[[M-CMTC]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6950/megalencephaly-capillary-malformation-syndrome Megalencephaly-capillary malformation syndrome]
 
* '''[[MCNS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9147/minimal-change-disease Minimal change disease]
 
* '''[[MCOPS1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/87/lenz-microphthalmia-syndrome Lenz microphthalmia syndrome]
 
* '''[[MCOPS10]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9292/microphthalmia-syndromic-10 Microphthalmia syndromic 10]
 
* '''[[MCOPS2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4628/oculofaciocardiodental-syndrome Oculofaciocardiodental syndrome]
 
* '''[[MCOPS3]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1443/syndromic-microphthalmia-type-3 Syndromic microphthalmia, type 3]
 
* '''[[MCOPS4]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5066/microphthalmia-syndromic-4 Microphthalmia syndromic 4]
 
* '''[[MCOPS5]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3692/microphthalmia-syndromic-5 Microphthalmia syndromic 5]
 
* '''[[MCOPS6]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3645/microphthalmia-syndromic-6 Microphthalmia syndromic 6]
 
* '''[[MCOPS7]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3659/microphthalmia-with-linear-skin-defects-syndrome Microphthalmia with linear skin defects syndrome]
 
* '''[[MCOPS8]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3693/microphthalmia-syndromic-8 Microphthalmia syndromic 8]
 
* '''[[MCOPS9]]'''
 
See [https://rarediseases.info.nih.gov/diseases/713/microphthalmia-syndromic-9 Microphthalmia syndromic 9]
 
* '''[[MCOR]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3635/congenital-microcoria Congenital microcoria]
 
* '''[[MCPH]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12117/autosomal-recessive-primary-microcephaly Autosomal recessive primary microcephaly]
 
* '''[[MCPHA]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8606/amish-lethal-microcephaly Amish lethal microcephaly]
 
* '''[https://rarediseases.info.nih.gov/diseases/3430/mcpherson-clemens-syndrome McPherson Clemens syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3431/mcpherson-robertson-cammarano-syndrome McPherson Robertson Cammarano syndrome]
 
* '''[[MCSZ]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9255/early-infantile-epileptic-encephalopathy Early Infantile Epileptic Encephalopathy]
 
* '''[[MCTD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7051/mixed-connective-tissue-disease Mixed connective tissue disease]
 
* '''[[MCUL]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10096/hereditary-leiomyomatosis-and-renal-cell-cancer Hereditary leiomyomatosis and renal cell cancer]
 
* '''[[MDB]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7005/medulloblastoma Medulloblastoma]
 
* '''[[MDC]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9138/congenital-muscular-dystrophy Congenital muscular dystrophy]
 
* '''[[MDC1A]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3843/congenital-muscular-dystrophy-type-1a Congenital muscular dystrophy type 1A]
 
* '''[[MDCL]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9138/congenital-muscular-dystrophy Congenital muscular dystrophy]
 
* '''[[MDDGA - Another name for Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
 
* '''[[MdDS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6959/mal-de-debarquement-syndrome Mal de debarquement syndrome]
 
* '''[[MDEBS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2137/epidermolysa-bullosa-simplex-with-muscular-dystrophy Epidermolysa bullosa simplex with muscular dystrophy]
 
* '''[[MD-EBS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2137/epidermolysa-bullosa-simplex-with-muscular-dystrophy Epidermolysa bullosa simplex with muscular dystrophy]
 
* '''[[MDK]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3074/mesomelic-dysplasia-kantaputra-type Mesomelic dysplasia Kantaputra type]
 
* '''[[MDLS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3669/miller-dieker-syndrome Miller-Dieker syndrome]
 
* '''[[MDM]]'''
 
See [https://rarediseases.info.nih.gov/diseases/92/meleda-disease Meleda disease]
 
* '''[[MDP syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10989/mandibular-hypoplasia-deafness-progeroid-features-and-lipodystrophy-syndrome Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome]
 
* '''[[MDPL syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10989/mandibular-hypoplasia-deafness-progeroid-features-and-lipodystrophy-syndrome Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome]
 
* '''[[MDR3 deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1289/progressive-familial-intrahepatic-cholestasis-type-3 Progressive familial intrahepatic cholestasis type 3]
 
* '''[[MDRS1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4723/rigid-spine-syndrome Rigid spine syndrome]
 
* '''[[MDS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7132/myelodysplastic-syndromes Myelodysplastic syndromes]
 
* '''[https://rarediseases.info.nih.gov/diseases/3432/meacham-winn-culler-syndrome Meacham Winn Culler syndrome]
 
* '''[[Meadows' syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/220/peripartum-cardiomyopathy Peripartum cardiomyopathy]
 
* '''[https://rarediseases.info.nih.gov/diseases/3434/measles Measles]
 
* '''[[MEB]]'''
 
See [https://rarediseases.info.nih.gov/diseases/156/muscle-eye-brain-disease Muscle eye brain disease]
 
* '''[[Meckel Gruber syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3436/meckel-syndrome Meckel syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3436/meckel-syndrome Meckel syndrome]
 
* '''[[Meckel syndrome 7]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4665/dandy-walker-cyst-with-renal-hepatic-pancreatic-dysplasia Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia]
 
* '''[https://rarediseases.info.nih.gov/diseases/8743/meckel-syndrome-type-2 Meckel syndrome type 2]
 
* '''[https://rarediseases.info.nih.gov/diseases/8744/meckel-syndrome-type-3 Meckel syndrome type 3]
 
* '''[[Meckel syndrome type 7]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4665/dandy-walker-cyst-with-renal-hepatic-pancreatic-dysplasia Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia]
 
* '''[[Meckel-like syndrome type 1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4665/dandy-walker-cyst-with-renal-hepatic-pancreatic-dysplasia Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia]
 
* '''[https://rarediseases.info.nih.gov/diseases/10494/meconium-aspiration-syndrome Meconium aspiration syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/9781/mecp2-duplication-syndrome MECP2 duplication syndrome]
 
* '''[[MED]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10756/multiple-epiphyseal-dysplasia Multiple epiphyseal dysplasia]
 
* '''[https://rarediseases.info.nih.gov/diseases/12999/med13l-haploinsufficiency-syndrome MED13L haploinsufficiency syndrome]
 
* '''[[MED13L syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12999/med13l-haploinsufficiency-syndrome MED13L haploinsufficiency syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/12233/med23 MED23]
 
* '''[https://rarediseases.info.nih.gov/diseases/3438/medeira-dennis-donnai-syndrome Medeira-Dennis-Donnai syndrome]
 
* '''[[Medial confluence of the breasts]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8684/symmastia Symmastia]
 
* '''[https://rarediseases.info.nih.gov/diseases/9648/medial-medullary-syndrome Medial Medullary Syndrome]
 
* '''[[Median arcuate ligament syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12308/celiac-artery-compression-syndrome Celiac artery compression syndrome]
 
* '''[[Median cleft face syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2392/frontonasal-dysplasia Frontonasal dysplasia]
 
* '''[[Median cleft of the upper lip-corpus callosum lipoma-cutaneous polyps syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3439/median-cleft-of-upper-lip-with-polyps-of-facial-skin-and-nasal-mucosa Median cleft of upper lip with polyps of facial skin and nasal mucosa]
 
* '''[https://rarediseases.info.nih.gov/diseases/3439/median-cleft-of-upper-lip-with-polyps-of-facial-skin-and-nasal-mucosa Median cleft of upper lip with polyps of facial skin and nasal mucosa]
 
* '''[[Median cleft syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2392/frontonasal-dysplasia Frontonasal dysplasia]
 
* '''[[Median cleft upper lip, mental retardation and pugilistic facies]]'''
 
See [https://rarediseases.info.nih.gov/diseases/358/pallister-w-syndrome Pallister W syndrome]
 
* '''[[Median facial cleft syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2392/frontonasal-dysplasia Frontonasal dysplasia]
 
* '''[[Median fissure of nose]]'''
 
See [https://rarediseases.info.nih.gov/diseases/884/bifid-nose Bifid nose]
 
* '''[https://rarediseases.info.nih.gov/diseases/3440/median-nodule-of-the-upper-lip Median nodule of the upper lip]
 
* '''[https://rarediseases.info.nih.gov/diseases/8258/mediastinal-endodermal-sinus-tumors Mediastinal endodermal sinus tumors]
 
* '''[[Mediastinal fibrosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8337/fibrosing-mediastinitis Fibrosing mediastinitis]
 
* '''[[Mediastinal fibrosis, familial]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5697/multifocal-fibrosclerosis Multifocal fibrosclerosis]
 
* '''[[Medication-induced gigantomastia (subtype)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9450/gigantomastia Gigantomastia]
 
* '''[[MED-IDDM syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5589/epiphyseal-dysplasia-multiple-with-early-onset-diabetes-mellitus Epiphyseal dysplasia multiple with early-onset diabetes mellitus]
 
* '''[[Mediterranean anemia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/871/beta-thalassemia Beta-thalassemia]
 
* '''[[Mediterranean Kaposi sarcoma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6814/kaposi-sarcoma Kaposi sarcoma]
 
* '''[[Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9870/3-alpha-hydroxyacyl-coa-dehydrogenase-deficiency 3-alpha hydroxyacyl-CoA dehydrogenase deficiency]
 
* '''[[Medium chain acyl CoA dehydrogenase deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/540/medium-chain-acyl-coenzyme-a-dehydrogenase-deficiency Medium-chain acyl-coenzyme A dehydrogenase deficiency]
 
* '''[https://rarediseases.info.nih.gov/diseases/10329/medium-chain-3-ketoacyl-coa-thiolase-deficiency Medium-chain 3-ketoacyl-coa thiolase deficiency]
 
* '''[[Medium-chain acyl-CoA dehydrogenase deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/540/medium-chain-acyl-coenzyme-a-dehydrogenase-deficiency Medium-chain acyl-coenzyme A dehydrogenase deficiency]
 
* '''[https://rarediseases.info.nih.gov/diseases/540/medium-chain-acyl-coenzyme-a-dehydrogenase-deficiency Medium-chain acyl-coenzyme A dehydrogenase deficiency]
 
* '''[https://rarediseases.info.nih.gov/diseases/3441/medrano-roldan-syndrome Medrano Roldan syndrome]
 
* '''[[Medullary cystic kidney disease 1 (former)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7002/autosomal-dominant-tubulointerstitial-kidney-disease-due-to-muc1-mutations Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations]
 
* '''[[Medullary cystic kidney disease 2 (former)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10679/autosomal-dominant-tubulointerstitial-kidney-disease-due-to-umod-mutations Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations]
 
* '''[[Medullary cystic kidney disease type 1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7002/autosomal-dominant-tubulointerstitial-kidney-disease-due-to-muc1-mutations Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations]
 
* '''[https://rarediseases.info.nih.gov/diseases/232/medullary-sponge-kidney Medullary sponge kidney]
 
* '''[[Medullary thyroid cancer (MTC)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7004/thyroid-cancer-medullary Thyroid cancer, medullary]
 
* '''[https://rarediseases.info.nih.gov/diseases/7005/medulloblastoma Medulloblastoma]
 
* '''[https://rarediseases.info.nih.gov/diseases/9350/medulloblastoma-childhood Medulloblastoma, childhood]
 
* '''[[Meesman dystrophy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9688/meesmann-corneal-dystrophy Meesmann corneal dystrophy]
 
* '''[https://rarediseases.info.nih.gov/diseases/9688/meesmann-corneal-dystrophy Meesmann corneal dystrophy]
 
* '''[[Meesmann corneal epithelial dystrophy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9688/meesmann-corneal-dystrophy Meesmann corneal dystrophy]
 
* '''[[Mega cisterna magna (type of DW complex)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6242/dandy-walker-complex Dandy-Walker complex]
 
* '''[[Megaconial congenital muscular dystrophy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10317/muscular-dystrophy-congenital-megaconial-type Muscular dystrophy, congenital, megaconial type]
 
* '''[[Megaconial congénital muscular dystrophy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10317/muscular-dystrophy-congenital-megaconial-type Muscular dystrophy, congenital, megaconial type]
 
* '''[https://rarediseases.info.nih.gov/diseases/3442/megacystis-microcolon-intestinal-hypoperistalsis-syndrome Megacystis microcolon intestinal hypoperistalsis syndrome]
 
* '''[[Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3442/megacystis-microcolon-intestinal-hypoperistalsis-syndrome Megacystis microcolon intestinal hypoperistalsis syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3443/megaduodenum-andor-megacystis Megaduodenum and/or megacystis]
 
* '''[https://rarediseases.info.nih.gov/diseases/3444/megaepiphyseal-dwarfism Megaepiphyseal dwarfism]
 
* '''[https://rarediseases.info.nih.gov/diseases/3445/megalencephalic-leukoencephalopathy-with-subcortical-cysts Megalencephalic leukoencephalopathy with subcortical cysts]
 
* '''[[Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10341/megalencephaly-polymicrogyria-polydactyly-hydrocephalus-syndrome Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome]
 
* '''[[Megalencephaly cutis marmorata telangiectatica congenita]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6950/megalencephaly-capillary-malformation-syndrome Megalencephaly-capillary malformation syndrome]
 
* '''[[Megalencephaly in infancy accompanied by progressive spasticity and dementia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5774/alexander-disease Alexander disease]
 
* '''[[Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10341/megalencephaly-polymicrogyria-polydactyly-hydrocephalus-syndrome Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/6950/megalencephaly-capillary-malformation-syndrome Megalencephaly-capillary malformation syndrome]
 
* '''[[Megalencephaly-cystic leukodystrophy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3445/megalencephalic-leukoencephalopathy-with-subcortical-cysts Megalencephalic leukoencephalopathy with subcortical cysts]
 
* '''[https://rarediseases.info.nih.gov/diseases/10341/megalencephaly-polymicrogyria-polydactyly-hydrocephalus-syndrome Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome]
 
* '''[[Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10341/megalencephaly-polymicrogyria-polydactyly-hydrocephalus-syndrome Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome]
 
* '''[[Megaloblastic anemia 1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7006/imerslund-grasbeck-syndrome Imerslund-Grasbeck syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/11000/megaloblastic-anemia-due-to-dihydrofolate-reductase-deficiency Megaloblastic anemia due to dihydrofolate reductase deficiency]
 
* '''[[Megaloblastic anemia thiamine-responsive with diabetes mellitus and sensorineural deafness]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9210/thiamine-responsive-megaloblastic-anemia-syndrome Thiamine responsive megaloblastic anemia syndrome]
 
* '''[[Megalocephaly cutis marmorata telangiectatica congenita]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6950/megalencephaly-capillary-malformation-syndrome Megalencephaly-capillary malformation syndrome]
 
* '''[[Megalocornea]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12648/isolated-congenital-megalocornea Isolated congenital megalocornea]
 
* '''[https://rarediseases.info.nih.gov/diseases/10942/megalocornea---spherophakia---secondary-glaucoma Megalocornea - spherophakia - secondary glaucoma]
 
* '''[[Megalocornea mental retardation syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3448/megalocornea-intellectual-disability-syndrome Megalocornea-intellectual disability syndrome]
 
* '''[[Megalocornea, multiple skeletal anomalies, and developmental delay]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5138/frank-ter-haar-syndrome Frank Ter Haar syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3448/megalocornea-intellectual-disability-syndrome Megalocornea-intellectual disability syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/8165/megalocytic-interstitial-nephritis Megalocytic interstitial nephritis]
 
* '''[[Megalodactylism of the foot]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6951/macrodactyly-of-the-foot Macrodactyly of the foot]
 
* '''[[Megalodactylism of the hand]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8529/macrodactyly-of-the-hand Macrodactyly of the hand]
 
* '''[[Megalodactyly of the foot]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6951/macrodactyly-of-the-foot Macrodactyly of the foot]
 
* '''[[Megalodactyly of the hand]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8529/macrodactyly-of-the-hand Macrodactyly of the hand]
 
* '''[https://rarediseases.info.nih.gov/diseases/10689/megarbane-jalkh-syndrome Megarbane Jalkh syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/9979/megarbane-syndrome Megarbane syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/12963/megdel-syndrome MEGDEL syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3449/mehes-syndrome Mehes syndrome]
 
* '''[[MEHMO]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9178/intellectual-disability-epileptic-seizures-hypogonadism-and-hypogenitalism-microcephaly-and-obesity Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity]
 
* '''[[MEHMO syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9178/intellectual-disability-epileptic-seizures-hypogonadism-and-hypogenitalism-microcephaly-and-obesity Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity]
 
* '''[https://rarediseases.info.nih.gov/diseases/3450/mehta-lewis-patton-syndrome Mehta Lewis Patton syndrome]
 
* '''[[Mehtylmalonic acidemia with homocystinuria cbI d]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3582/methylmalonic-acidemia-with-homocystinuria-type-cbld Methylmalonic acidemia with homocystinuria type cblD]
 
* '''[https://rarediseases.info.nih.gov/diseases/3451/meier-blumberg-imahorn-syndrome Meier Blumberg Imahorn syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/2033/meier-gorlin-syndrome Meier-Gorlin syndrome]
 
* '''[[Meige disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3324/hereditary-lymphedema-type-ii Hereditary lymphedema type II]
 
* '''[[Meige dystonia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7008/meige-syndrome Meige syndrome]
 
* '''[[Meige lymphedema]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3324/hereditary-lymphedema-type-ii Hereditary lymphedema type II]
 
* '''[https://rarediseases.info.nih.gov/diseases/7008/meige-syndrome Meige syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3454/meigel-disease Meigel disease]
 
* '''[[Meige's syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7008/meige-syndrome Meige syndrome]
 
* '''[[MEIS2 haploinsufficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13480/cleft-palate-cardiac-defects-and-intellectual-disability Cleft palate, cardiac defects, and intellectual disability]
 
* '''[[MEIS2 mutations]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13480/cleft-palate-cardiac-defects-and-intellectual-disability Cleft palate, cardiac defects, and intellectual disability]
 
* '''[https://rarediseases.info.nih.gov/diseases/9422/melanocytic-lesions-of-cns Melanocytic lesions of CNS]
 
* '''[[Melanoma and neural system tumor syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8468/melanoma-astrocytoma-syndrome Melanoma astrocytoma syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/8468/melanoma-astrocytoma-syndrome Melanoma astrocytoma syndrome]
 
* '''[[Melanoma of the gastrointestinal tract]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10409/digestive-system-melanoma Digestive System Melanoma]
 
* '''[[Melanoma of the GI tract]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10409/digestive-system-melanoma Digestive System Melanoma]
 
* '''[[Melanoma of the Uvea]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8621/intraocular-melanoma Intraocular melanoma]
 
* '''[https://rarediseases.info.nih.gov/diseases/3460/melanoma-familial Melanoma, familial]
 
* '''[https://rarediseases.info.nih.gov/diseases/12041/melanoma-associated-retinopathy Melanoma-associated retinopathy]
 
* '''[[Melanoma-pancreatic cancer syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9281/familial-atypical-multiple-mole-melanoma-syndrome Familial atypical multiple mole melanoma syndrome] ''- not a rare disease''
 
* '''[[Melanosis, neurocutaneous]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7186/neurocutaneous-melanosis Neurocutaneous melanosis]
 
* '''[[MELAS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7009/mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes]
 
* '''[[MELAS syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7009/mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes]
 
* '''[https://rarediseases.info.nih.gov/diseases/92/meleda-disease Meleda disease]
 
* '''[[MELF]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8214/lafora-disease Lafora disease]
 
* '''[https://rarediseases.info.nih.gov/diseases/3462/melhem-fahl-syndrome Melhem Fahl syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/9546/melioidosis Melioidosis]
 
* '''[[Melkersson syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7010/melkersson-rosenthal-syndrome Melkersson-Rosenthal syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/7010/melkersson-rosenthal-syndrome Melkersson-Rosenthal syndrome]
 
* '''[[Melnick-Fraser syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10147/branchiootorenal-syndrome Branchiootorenal syndrome]
 
* '''[[Melnick-Needles osteodysplasty]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7011/melnick-needles-syndrome Melnick-Needles syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/7011/melnick-needles-syndrome Melnick-Needles syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/9474/melorheostosis Melorheostosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/3690/melorheostosis-with-osteopoikilosis Melorheostosis with osteopoikilosis]
 
* '''[[Meltzer syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6386/familial-mixed-cryoglobulinemia Familial mixed cryoglobulinemia]
 
* '''[https://rarediseases.info.nih.gov/diseases/11982/membranoproliferative-glomerulonephritis Membranoproliferative glomerulonephritis]
 
* '''[[Membranoproliferative glomerulonephritis type 2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8555/dense-deposit-disease Dense deposit disease]
 
* '''[[Membranoproliferative glomerulonephritis type II]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8555/dense-deposit-disease Dense deposit disease]
 
* '''[[Membranous glomerulonephritis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9180/membranous-nephropathy Membranous nephropathy]
 
* '''[[Membranous GN]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9180/membranous-nephropathy Membranous nephropathy]
 
* '''[https://rarediseases.info.nih.gov/diseases/9180/membranous-nephropathy Membranous nephropathy]
 
* '''[[Membranous obstruction of the inferior vena cava]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5968/budd-chiari-syndrome Budd-Chiari syndrome]
 
* '''[[Memory loss, extreme sexual behavior, placidity, and visual distractibility]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6840/kluver-bucy-syndrome Kluver Bucy syndrome]
 
* '''[[MEN 1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3829/multiple-endocrine-neoplasia-type-1 Multiple endocrine neoplasia type 1]
 
* '''[[MEN 2A]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4881/multiple-endocrine-neoplasia-type-2a Multiple endocrine neoplasia type 2A]
 
* '''[[MEN 2B]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10225/multiple-endocrine-neoplasia-type-2b Multiple endocrine neoplasia type 2B]
 
* '''[[MEN1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3829/multiple-endocrine-neoplasia-type-1 Multiple endocrine neoplasia type 1]
 
* '''[[MEN2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3830/multiple-endocrine-neoplasia-type-2 Multiple endocrine neoplasia type 2]
 
* '''[[MEN-2A syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4881/multiple-endocrine-neoplasia-type-2a Multiple endocrine neoplasia type 2A]
 
* '''[[Mende Syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5525/waardenburg-syndrome Waardenburg syndrome]
 
* '''[[Mendelian susceptibility to atypical mycobacteria]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12977/mendelian-susceptibility-to-mycobacterial-diseases Mendelian susceptibility to mycobacterial diseases]
 
* '''[[Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10984/il12rb1-deficiency IL12RB1 deficiency]
 
* '''[https://rarediseases.info.nih.gov/diseases/12977/mendelian-susceptibility-to-mycobacterial-diseases Mendelian susceptibility to mycobacterial diseases]
 
* '''[[Mendelian susceptibility to mycobacterial diseases]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12977/mendelian-susceptibility-to-mycobacterial-diseases Mendelian susceptibility to mycobacterial diseases]
 
* '''[[Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10984/il12rb1-deficiency IL12RB1 deficiency]
 
* '''[[Mendelian susceptibility to mycobacterial infections]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12977/mendelian-susceptibility-to-mycobacterial-diseases Mendelian susceptibility to mycobacterial diseases]
 
* '''[[Mendelian susceptibility to mycobacterial infections due to IL12 deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10984/il12rb1-deficiency IL12RB1 deficiency]
 
* '''[[Mendenhall Syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/226/rabson-mendenhall-syndrome Rabson-Mendenhall syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/2436/menetrier-disease Menetrier disease]
 
* '''[[Mengel-Konigsmark syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1460/conductive-deafness-with-malformed-external-ear Conductive deafness with malformed external ear]
 
* '''[[Meniere disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10340/menieres-disease Ménière's disease] ''- not a rare disease''
 
* '''[[Meniere's disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10340/menieres-disease Ménière's disease] ''- not a rare disease''
 
* '''[https://rarediseases.info.nih.gov/diseases/10340/menieres-disease Ménière's disease] ''- not a rare disease''
 
* '''[[Meningeal capillary angiomatosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7706/sturge-weber-syndrome Sturge-Weber syndrome]
 
* '''[[Meningeal syphilis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8731/syphilitic-aseptic-meningitis Syphilitic aseptic meningitis]
 
* '''[https://rarediseases.info.nih.gov/diseases/7015/meningioma Meningioma]
 
* '''[[Meningioma, spine]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10264/spinal-meningioma Spinal meningioma]
 
* '''[[Meningitis, bacterial]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5881/bacterial-meningitis Bacterial meningitis]
 
* '''[[Meningitis, neonatal]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10440/neonatal-meningitis Neonatal meningitis]
 
* '''[[Meningitis, syphilitic]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8731/syphilitic-aseptic-meningitis Syphilitic aseptic meningitis]
 
* '''[https://rarediseases.info.nih.gov/diseases/3471/meningocele Meningocele]
 
* '''[[Meningococcal disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7169/neisseria-meningitidis-infection Neisseria meningitidis infection]
 
* '''[https://rarediseases.info.nih.gov/diseases/9547/meningococcal-infection Meningococcal infection]
 
* '''[https://rarediseases.info.nih.gov/diseases/3472/meningococcemia Meningococcemia]
 
* '''[[Meningoencephalitis caused by Naegleria fowleri]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9554/primary-amebic-meningoencephalitis Primary amebic meningoencephalitis]
 
* '''[https://rarediseases.info.nih.gov/diseases/3473/meningoencephalocele Meningoencephalocele]
 
* '''[[Meningoencephalocele, arthrogryposis and hypoplastic thumbs]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4387/podder-tolmie-syndrome Podder-Tolmie syndrome]
 
* '''[[Meningomyelocele]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3475/myelomeningocele Myelomeningocele]
 
* '''[[Menkea syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1521/menkes-disease Menkes disease]
 
* '''[https://rarediseases.info.nih.gov/diseases/1521/menkes-disease Menkes disease]
 
* '''[[Menkes syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1521/menkes-disease Menkes disease]
 
* '''[[Mental deficiency, choroideremia, acrokeratosis verruciformis,anhidrosis, skeletal deformity]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5453/van-den-bosch-syndrome Van Den Bosch syndrome]
 
* '''[[Mental deficiency, epilepsy and endocrine disorders]]'''
 
See [https://rarediseases.info.nih.gov/diseases/936/borjeson-forssman-lehmann-syndrome Borjeson-Forssman-Lehmann syndrome]
 
* '''[[Mental retardation , X-linked with seizures, short stature and midface hypoplasia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1608/x-linked-creatine-deficiency X-linked creatine deficiency]
 
* '''[[Mental retardation , X-linked, with creatine transport deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1608/x-linked-creatine-deficiency X-linked creatine deficiency]
 
* '''[[Mental Retardation Aphasia Shuffling Gait Adducted Thumbs (MASA)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6986/spastic-paraplegia-1 Spastic paraplegia 1]
 
* '''[[Mental retardation Buenos Aires type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3485/intellectual-deficit-buenos-aires-type Intellectual deficit Buenos-Aires type]
 
* '''[[Mental retardation psychosis macroorchidism]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3506/ppm-x-syndrome PPM-X syndrome]
 
* '''[[Mental retardation short stature hypertelorism]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3514/intellectual-deficit---short-stature---hypertelorism Intellectual deficit - short stature - hypertelorism]
 
* '''[https://rarediseases.info.nih.gov/diseases/3520/mental-retardation-skeletal-dysplasia-abducens-palsy Mental retardation skeletal dysplasia abducens palsy]
 
* '''[https://rarediseases.info.nih.gov/diseases/3521/mental-retardation-smith-fineman-myers-type Mental retardation Smith Fineman Myers type]
 
* '''[[Mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9679/temtamy-preaxial-brachydactyly-syndrome Temtamy preaxial brachydactyly syndrome]
 
* '''[[Mental retardation syndrome, Mietens Weber type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3524/mietens-weber-syndrome Mietens-Weber syndrome]
 
* '''[[Mental retardation with optic atrophy, deafness, and seizures]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5611/severe-x-linked-intellectual-disability-gustavson-type Severe X-linked intellectual disability, Gustavson type]
 
* '''[[Mental retardation with osteocartilaginous abnormalities]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6123/coffin-lowry-syndrome Coffin-Lowry syndrome]
 
* '''[[Mental retardation with psychosis, pyramidal signs, and macroorchidism]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3506/ppm-x-syndrome PPM-X syndrome]
 
* '''[[Mental retardation with spastic paraplegia and palmoplantar hyperkeratosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2344/fitzsimmons-syndrome Fitzsimmons syndrome]
 
* '''[[Mental retardation X-linked severe Gustavson type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5611/severe-x-linked-intellectual-disability-gustavson-type Severe X-linked intellectual disability, Gustavson type]
 
* '''[[Mental retardation X-linked Shashi type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4119/mental-retardation-x-linked-syndromic-11 Mental retardation X-linked syndromic 11]
 
* '''[[Mental retardation X-linked Siderius type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9704/x-linked-intellectual-disability-siderius-type X-linked intellectual disability, Siderius type]
 
* '''[https://rarediseases.info.nih.gov/diseases/4119/mental-retardation-x-linked-syndromic-11 Mental retardation X-linked syndromic 11]
 
* '''[[Mental retardation X-linked syndromic 5]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8520/dandy-walker-malformation-with-intellectual-disability-basal-ganglia-disease-and-seizures Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures]
 
* '''[https://rarediseases.info.nih.gov/diseases/9156/mental-retardation-x-linked-syndromic-7 Mental retardation X-linked syndromic 7]
 
* '''[[Mental retardation X-linked with Dandy-Walker malformation basal ganglia disease and seizures]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8520/dandy-walker-malformation-with-intellectual-disability-basal-ganglia-disease-and-seizures Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures]
 
* '''[[Mental retardation X-linked, Tranebjaerg type seizures and psoriasis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5238/tranebjaerg-svejgaard-syndrome Tranebjaerg Svejgaard syndrome]
 
* '''[[Mental retardation, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose]]'''
 
See [https://rarediseases.info.nih.gov/diseases/415/pseudoprogeria-syndrome Pseudoprogeria syndrome]
 
* '''[[Mental retardation, autosomal dominant 20]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12166/5q143-microdeletion-syndrome 5q14.3 microdeletion syndrome]
 
* '''[[Mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3300/lowry-maclean-syndrome Lowry Maclean syndrome]
 
* '''[[Mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2168/epilepsy-telangiectasia Epilepsy telangiectasia]
 
* '''[[Mental retardation, epilepsy, short stature and skeletal dysplasia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/350/gurrieri-syndrome Gurrieri syndrome]
 
* '''[[MENTAL RETARDATION, GROWTH RETARDATION, PROMINENT COLUMELLA, AND OPEN MOUTH]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9828/mgat2-cdg-cdg-iia MGAT2-CDG (CDG-IIa)]
 
* '''[https://rarediseases.info.nih.gov/diseases/10064/mental-retardation-keratoconus-febrile-seizures-and-sinoatrial-block Mental retardation, keratoconus, febrile seizures, and sinoatrial block]
 
* '''[[Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2317/fg-syndrome FG syndrome]
 
* '''[[Mental retardation, malformations, chromosome breakage, and development of T-cell leukemia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3902/n-syndrome N syndrome]
 
* '''[[Mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9673/mowat-wilson-syndrome Mowat-Wilson syndrome]
 
* '''[[Mental retardation, microcephaly, epilepsy, and coarse face]]'''
 
See [https://rarediseases.info.nih.gov/diseases/836/battaglia-neri-syndrome Battaglia-Neri syndrome]
 
* '''[[Mental retardation, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5545/weaver-williams-syndrome Weaver Williams syndrome]
 
* '''[[Mental retardation, obesity, hypogonadism, and tapering fingers]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9156/mental-retardation-x-linked-syndromic-7 Mental retardation X-linked syndromic 7]
 
* '''[[Mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3424/mcdonough-syndrome McDonough syndrome]
 
* '''[[Mental retardation, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3141/kozlowski-krajewska-syndrome Kozlowski-Krajewska syndrome]
 
* '''[[Mental retardation, tall stature, obesity, macrocephaly and typical facial features]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9994/clark-baraitser-syndrome Clark-Baraitser syndrome]
 
* '''[[Mental retardation, truncal obesity, retinal dystrophy and micropenis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10121/morm-syndrome MORM syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/8557/mental-retardation-x-linked-14 Mental retardation, X-linked 14]
 
* '''[[Mental retardation, X-linked nonspecific, type 14]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8557/mental-retardation-x-linked-14 Mental retardation, X-linked 14]
 
* '''[[Mental retardation, X-linked Renpenning type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9509/renpenning-syndrome-1 Renpenning syndrome 1]
 
* '''[[Mental retardation, X-linked, Hyde-Forster type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2765/x-linked-intellectual-disability-plagiocephaly-syndrome X-linked intellectual disability-plagiocephaly syndrome]
 
* '''[[Mental retardation, X-linked, Lubs type (formerly)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9781/mecp2-duplication-syndrome MECP2 duplication syndrome]
 
* '''[[Mental retardation, X-linked, syndromic 13]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3506/ppm-x-syndrome PPM-X syndrome]
 
* '''[[Mental retardation, X-linked, syndromic 2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4482/x-linked-intellectual-disability-dysmorphism-cerebral-atrophy-syndrome X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome]
 
* '''[[MENTAL RETARDATION, X-LINKED, SYNDROMIC 28]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12486/graham-cox-syndrome Graham-Cox syndrome]
 
* '''[[Mental retardation, X-linked, syndromic 6 (formerly)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5579/wilson-turner-syndrome Wilson-Turner syndrome]
 
* '''[[Mental retardation, X-linked, syndromic 8]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9509/renpenning-syndrome-1 Renpenning syndrome 1]
 
* '''[[Mental retardation, X-linked, with craniofacial dysmorphism]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2765/x-linked-intellectual-disability-plagiocephaly-syndrome X-linked intellectual disability-plagiocephaly syndrome]
 
* '''[[Mental retardation, X-linked, with gynecomastia and obesity (formerly)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5579/wilson-turner-syndrome Wilson-Turner syndrome]
 
* '''[[Menzel type OPCA]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4071/spinocerebellar-ataxia-1 Spinocerebellar ataxia 1]
 
* '''[https://rarediseases.info.nih.gov/diseases/13488/mepan-syndrome MEPAN syndrome]
 
* '''[[Meralgia paraesthetica familial (type)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9417/meralgia-paresthetica Meralgia paresthetica]
 
* '''[https://rarediseases.info.nih.gov/diseases/9417/meralgia-paresthetica Meralgia paresthetica]
 
* '''[https://rarediseases.info.nih.gov/diseases/7021/mercury-poisoning Mercury poisoning]
 
* '''[[Mercury toxicity]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7021/mercury-poisoning Mercury poisoning]
 
* '''[[Merkel cell cancer]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9266/merkel-cell-carcinoma Merkel cell carcinoma]
 
* '''[https://rarediseases.info.nih.gov/diseases/9266/merkel-cell-carcinoma Merkel cell carcinoma]
 
* '''[[Merkle tumors]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9266/merkel-cell-carcinoma Merkel cell carcinoma]
 
* '''[[Mermaid malformation]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7652/sirenomelia Sirenomelia]
 
* '''[[Mermaid syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7652/sirenomelia Sirenomelia]
 
* '''[[Merosin-deficient congenital muscular dystrophy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3843/congenital-muscular-dystrophy-type-1a Congenital muscular dystrophy type 1A]
 
* '''[[Merosin-negative congenital muscular dystrophy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3843/congenital-muscular-dystrophy-type-1a Congenital muscular dystrophy type 1A]
 
* '''[[MERRF]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7144/myoclonic-epilepsy-with-ragged-red-fibers Myoclonic epilepsy with ragged red fibers]
 
* '''[[Merrf syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7144/myoclonic-epilepsy-with-ragged-red-fibers Myoclonic epilepsy with ragged red fibers]
 
* '''[[Merten-Singleton syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/122/singleton-merten-syndrome Singleton-Merten syndrome]
 
* '''[[MES]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10466/malignant-eccrine-spiradenoma Malignant eccrine spiradenoma]
 
* '''[https://rarediseases.info.nih.gov/diseases/9580/mesangial-proliferative-glomerulonephritis Mesangial proliferative glomerulonephritis]
 
* '''[[Mesangial proliferative GN]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9580/mesangial-proliferative-glomerulonephritis Mesangial proliferative glomerulonephritis]
 
* '''[[Mesangial sclerosis, diffuse]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3547/diffuse-mesangial-sclerosis Diffuse mesangial sclerosis]
 
* '''[[Mesangiocapillary glomerulonephritis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/11982/membranoproliferative-glomerulonephritis Membranoproliferative glomerulonephritis]
 
* '''[[Mesangiocapillary glomerulonephritis type 2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8555/dense-deposit-disease Dense deposit disease]
 
* '''[[Mesangioproliferative glomerulonephritis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9580/mesangial-proliferative-glomerulonephritis Mesangial proliferative glomerulonephritis]
 
* '''[https://rarediseases.info.nih.gov/diseases/12003/mesangioproliferative-glomerulopathy Mesangioproliferative glomerulopathy]
 
* '''[[Mesenteric fibromatosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8169/sclerosing-mesenteritis Sclerosing mesenteritis]
 
* '''[[Mesenteric lipodystrophy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8169/sclerosing-mesenteritis Sclerosing mesenteritis]
 
* '''[[Mesenteric lipogranuloma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8169/sclerosing-mesenteritis Sclerosing mesenteritis]
 
* '''[[Mesenteric panniculitis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8169/sclerosing-mesenteritis Sclerosing mesenteritis]
 
* '''[[Mesiodens cataract syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7161/nance-horan-syndrome Nance-Horan syndrome]
 
* '''[[Mesodermal dysmorphodystrophy congenital]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4936/weill-marchesani-syndrome Weill-Marchesani syndrome]
 
* '''[[Mesoectodermal dysplasia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1301/ellis-van-creveld-syndrome Ellis-Van Creveld syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3549/mesomelia Mesomelia]
 
* '''[[Mesomelia of the upper limbs, absent nails, clubfeet, and mental retardation]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5398/ulna-hypoplasia-intellectual-disability-syndrome Ulna hypoplasia-intellectual disability syndrome]
 
* '''[[Mesomelia synostoses]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4302/mesomelia-synostoses-syndrome Mesomelia-synostoses syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/4302/mesomelia-synostoses-syndrome Mesomelia-synostoses syndrome]
 
* '''[[Mesomelic dwarfism Campailla-Martinelli type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/505/acromesomelic-dysplasia-campailla-martinelli-type Acromesomelic dysplasia Campailla Martinelli type]
 
* '''[https://rarediseases.info.nih.gov/diseases/3552/mesomelic-dwarfism-cleft-palate-camptodactyly Mesomelic dwarfism cleft palate camptodactyly]
 
* '''[[Mesomelic dwarfism Nievergelt type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3554/nievergelt-syndrome Nievergelt syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/7313/mesomelic-dwarfism-of-hypoplastic-tibia-and-radius-type Mesomelic dwarfism of hypoplastic tibia and radius type]
 
* '''[[Mesomelic dwarfism of hypoplastic ulna and fibula type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3555/ulna-and-fibula-hypoplasia-of Ulna and fibula, hypoplasia of]
 
* '''[[Mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3553/langer-mesomelic-dysplasia Langer mesomelic dysplasia]
 
* '''[[Mesomelic dwarfism-small genitalia syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/312/robinow-syndrome Robinow syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3074/mesomelic-dysplasia-kantaputra-type Mesomelic dysplasia Kantaputra type]
 
* '''[[Mesomelic dysplasia Reinhardt-Pfeiffer type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3555/ulna-and-fibula-hypoplasia-of Ulna and fibula, hypoplasia of]
 
* '''[https://rarediseases.info.nih.gov/diseases/10584/mesomelic-dysplasia-savarirayan-type Mesomelic dysplasia Savarirayan type]
 
* '''[https://rarediseases.info.nih.gov/diseases/3556/mesomelic-dysplasia-skin-dimples Mesomelic dysplasia skin dimples]
 
* '''[[Mesomelic dysplasia Thai type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3074/mesomelic-dysplasia-kantaputra-type Mesomelic dysplasia Kantaputra type]
 
* '''[[Mesomelic dysplasia with absent fibulas and triangular tibias]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10584/mesomelic-dysplasia-savarirayan-type Mesomelic dysplasia Savarirayan type]
 
* '''[[Mesomelic dysplasia with ankle carpal and tarsal synostosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3074/mesomelic-dysplasia-kantaputra-type Mesomelic dysplasia Kantaputra type]
 
* '''[[Mesomelic limb shortening and bowing]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3552/mesomelic-dwarfism-cleft-palate-camptodactyly Mesomelic dwarfism cleft palate camptodactyly]
 
* '''[[Mesomelic shortening and hereditary nephritis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1994/dyschondrosteosis-nephritis Dyschondrosteosis nephritis]
 
* '''[[Mesothelioma, malignant]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7026/malignant-mesothelioma Malignant mesothelioma]
 
* '''[[MesPGN]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12003/mesangioproliferative-glomerulopathy Mesangioproliferative glomerulopathy]
 
* '''[[Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13423/tango2-related-metabolic-encephalopathy-and-arrhythmias TANGO2-Related Metabolic Encephalopathy and Arrhythmias]
 
* '''[[Metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3682/mitochondrial-myopathy-with-lactic-acidosis Mitochondrial myopathy with lactic acidosis]
 
* '''[[Metabolic syndrome X]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9226/abdominal-obesity-metabolic-syndrome Abdominal obesity metabolic syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3559/metacarpals-4-and-5-fusion Metacarpals 4 and 5 fusion]
 
* '''[https://rarediseases.info.nih.gov/diseases/3560/metachondromatosis Metachondromatosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/3230/metachromatic-leukodystrophy Metachromatic leukodystrophy]
 
* '''[[Metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10674/metachromatic-leukodystrophy-due-to-saposin-b-deficiency Metachromatic leukodystrophy due to saposin B deficiency]
 
* '''[https://rarediseases.info.nih.gov/diseases/10674/metachromatic-leukodystrophy-due-to-saposin-b-deficiency Metachromatic leukodystrophy due to saposin B deficiency]
 
* '''[[Metachromatic leukoencephalopathy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3230/metachromatic-leukodystrophy Metachromatic leukodystrophy]
 
* '''[[Metageria]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6543/acrogeria-gottron-type Acrogeria, Gottron type]
 
* '''[https://rarediseases.info.nih.gov/diseases/9745/metagonimiasis Metagonimiasis]
 
* '''[[Metagonimus yokogawai infection]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9745/metagonimiasis Metagonimiasis]
 
* '''[https://rarediseases.info.nih.gov/diseases/3519/metaphyseal-acroscyphodysplasia Metaphyseal acroscyphodysplasia]
 
* '''[https://rarediseases.info.nih.gov/diseases/3562/metaphyseal-anadysplasia Metaphyseal anadysplasia]
 
* '''[[Metaphyseal and epiphyseal dysplasia with unusual facies and cataract]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3140/kozlowski-rafinski-klicharska-syndrome Kozlowski Rafinski Klicharska syndrome]
 
* '''[[Metaphyseal chondrodysplasia McKusick type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6996/cartilage-hair-hypoplasia Cartilage-hair hypoplasia]
 
* '''[[Metaphyseal chondrodysplasia Murk Jansen type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/79/jansen-type-metaphyseal-chondrodysplasia Jansen type metaphyseal chondrodysplasia]
 
* '''[https://rarediseases.info.nih.gov/diseases/7029/metaphyseal-chondrodysplasia-schmid-type Metaphyseal chondrodysplasia Schmid type]
 
* '''[https://rarediseases.info.nih.gov/diseases/3563/metaphyseal-chondrodysplasia-spahr-type Metaphyseal chondrodysplasia Spahr type]
 
* '''[[Metaphyseal chondrodysplasia with cone-shaped epiphyses and alopecia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9861/trichoscyphodysplasia Trichoscyphodysplasia]
 
* '''[https://rarediseases.info.nih.gov/diseases/9942/metaphyseal-chondrodysplasia-with-cone-shaped-epiphyses-normal-hair-and-normal-hands Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands]
 
* '''[[Metaphyseal chondrodysplasia with ectodermal dysplasia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9861/trichoscyphodysplasia Trichoscyphodysplasia]
 
* '''[https://rarediseases.info.nih.gov/diseases/3565/metaphyseal-chondrodysplasia-others Metaphyseal chondrodysplasia, others]
 
* '''[[Metaphyseal chondroplasia Rosenberg type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4740/ulna-metaphyseal-dysplasia-syndrome Ulna metaphyseal dysplasia syndrome]
 
* '''[[Metaphyseal dysostosis, conductive hearing loss and mental retardation (formerly)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3566/metaphyseal-dysostosis-intellectual-disability-conductive-deafness-syndrome Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3566/metaphyseal-dysostosis-intellectual-disability-conductive-deafness-syndrome Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome]
 
* '''[[Metaphyseal dysplasia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4612/pyle-disease Pyle disease]
 
* '''[[Metaphyseal dysplasia hypertelorism hypospadias]]'''
 
See [https://rarediseases.info.nih.gov/diseases/240/say-carpenter-syndrome Say Carpenter syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3568/metaphyseal-dysplasia-maxillary-hypoplasia-brachydactyly Metaphyseal dysplasia maxillary hypoplasia brachydactyly]
 
* '''[[Metaphyseal dysplasia Pyle type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4612/pyle-disease Pyle disease]
 
* '''[https://rarediseases.info.nih.gov/diseases/10622/metaphyseal-dysplasia-without-hypotrichosis Metaphyseal dysplasia without hypotrichosis]
 
* '''[[Metaphyseal modeling abnormality, skin lesions, and Spastic paraplegia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/217/roy-maroteaux-kremp-syndrome Roy Maroteaux Kremp syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/10066/metaphyseal-undermodeling-spondylar-dysplasia-and-overgrowth Metaphyseal undermodeling, spondylar dysplasia, and overgrowth]
 
* '''[[Metaplastic breast cancer]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10804/metaplastic-carcinoma-of-the-breast Metaplastic carcinoma of the breast]
 
* '''[https://rarediseases.info.nih.gov/diseases/10804/metaplastic-carcinoma-of-the-breast Metaplastic carcinoma of the breast]
 
* '''[[Metastatic dermatofibrosarcoma protuberans (subtype)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9569/dermatofibrosarcoma-protuberans Dermatofibrosarcoma protuberans]
 
* '''[https://rarediseases.info.nih.gov/diseases/7030/metastatic-insulinoma Metastatic insulinoma]
 
* '''[https://rarediseases.info.nih.gov/diseases/9384/metastatic-squamous-neck-cancer-with-occult-primary Metastatic squamous neck cancer with occult primary]
 
* '''[https://rarediseases.info.nih.gov/diseases/3570/metatarsus-adductus Metatarsus adductus] ''- not a rare disease''
 
* '''[[Metatropic dwarfism]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3571/metatropic-dysplasia Metatropic dysplasia]
 
* '''[https://rarediseases.info.nih.gov/diseases/3571/metatropic-dysplasia Metatropic dysplasia]
 
* '''[[Metatropic dysplasia, nonlethal dominant]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3571/metatropic-dysplasia Metatropic dysplasia]
 
* '''[[METCDS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3560/metachondromatosis Metachondromatosis]
 
* '''[[Methacrylic acid toxicity]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13202/hibch-deficiency HIBCH deficiency]
 
* '''[[Methacrylic aciduria]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13202/hibch-deficiency HIBCH deficiency]
 
* '''[[Methemoglobinemia due to deficiency of methemoglobin reductase]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3909/nadh-cytochrome-b5-reductase-deficiency NADH cytochrome B5 reductase deficiency]
 
* '''[https://rarediseases.info.nih.gov/diseases/13007/methemoglobinemia-beta-globin-type Methemoglobinemia, beta-globin type]
 
* '''[https://rarediseases.info.nih.gov/diseases/3573/methimazole-antenatal-exposure Methimazole antenatal exposure]
 
* '''[[Methimazole embryofetopathy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3573/methimazole-antenatal-exposure Methimazole antenatal exposure]
 
* '''[[Methimazole/carbimazole embryofetopathy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3573/methimazole-antenatal-exposure Methimazole antenatal exposure]
 
* '''[[Methimazole/carbimazole embryopathy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3573/methimazole-antenatal-exposure Methimazole antenatal exposure]
 
* '''[https://rarediseases.info.nih.gov/diseases/8397/methionine-adenosyltransferase-deficiency Methionine adenosyltransferase deficiency]
 
* '''[[Methionine synthase deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3577/methylcobalamin-deficiency-cbl-g-type Methylcobalamin deficiency cbl G type]
 
* '''[[Methyl mercury antenatal exposure]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3575/fetal-methylmercury-syndrome Fetal methylmercury syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3577/methylcobalamin-deficiency-cbl-g-type Methylcobalamin deficiency cbl G type]
 
* '''[[Methylcrotonylglycinuria type 2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9151/3-alpha-methylcrotonyl-coa-carboxylase-2-deficiency 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency]
 
* '''[[Methylenetetrahydro-folate reductase deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2734/homocystinuria-due-to-mthfr-deficiency Homocystinuria due to MTHFR deficiency]
 
* '''[[Methylenetetrahydrofolate reductase variant]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10953/mthfr-gene-variant MTHFR gene variant] ''- not a rare disease''
 
* '''[https://rarediseases.info.nih.gov/diseases/7033/methylmalonic-acidemia Methylmalonic acidemia]
 
* '''[https://rarediseases.info.nih.gov/diseases/13137/methylmalonic-acidemia-and-homocysteinemia-type-cblx Methylmalonic acidemia and homocysteinemia type cblX]
 
* '''[[Methylmalonic acidemia and homocysteinemia, cblX type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13137/methylmalonic-acidemia-and-homocysteinemia-type-cblx Methylmalonic acidemia and homocysteinemia type cblX]
 
* '''[[Methylmalonic acidemia and homocystinemia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3579/methylmalonic-acidemia-with-homocystinuria Methylmalonic acidemia with homocystinuria]
 
* '''[[Methylmalonic acidemia and homocystinuria cblc]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12128/methylmalonic-acidemia-with-homocystinuria-type-cblc Methylmalonic acidemia with homocystinuria type cblC]
 
* '''[[METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblD TYPE]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3582/methylmalonic-acidemia-with-homocystinuria-type-cbld Methylmalonic acidemia with homocystinuria type cblD]
 
* '''[[Methylmalonic acidemia cblA type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5500/methylmalonic-aciduria-cbla-type Methylmalonic aciduria, cblA type]
 
* '''[[Methylmalonic acidemia cblB type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9479/methylmalonic-aciduria-cblb-type Methylmalonic aciduria, cblB type]
 
* '''[https://rarediseases.info.nih.gov/diseases/3579/methylmalonic-acidemia-with-homocystinuria Methylmalonic acidemia with homocystinuria]
 
* '''[https://rarediseases.info.nih.gov/diseases/12128/methylmalonic-acidemia-with-homocystinuria-type-cblc Methylmalonic acidemia with homocystinuria type cblC]
 
* '''[https://rarediseases.info.nih.gov/diseases/3582/methylmalonic-acidemia-with-homocystinuria-type-cbld Methylmalonic acidemia with homocystinuria type cblD]
 
* '''[https://rarediseases.info.nih.gov/diseases/3584/methylmalonic-acidemia-with-homocystinuria-type-cblf Methylmalonic acidemia with homocystinuria type cblF]
 
* '''[https://rarediseases.info.nih.gov/diseases/12621/methylmalonic-acidemia-with-homocystinuria-type-cblj Methylmalonic acidemia with homocystinuria type cblJ]
 
* '''[[Methylmalonic acidemia with homocystinuria, type cblD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3582/methylmalonic-acidemia-with-homocystinuria-type-cbld Methylmalonic acidemia with homocystinuria type cblD]
 
* '''[[Methylmalonic acidemia with homocystinuria, type cblJ]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12621/methylmalonic-acidemia-with-homocystinuria-type-cblj Methylmalonic acidemia with homocystinuria type cblJ]
 
* '''[[Methylmalonic acidemia with homocystinuria, type cblX]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13137/methylmalonic-acidemia-and-homocysteinemia-type-cblx Methylmalonic acidemia and homocysteinemia type cblX]
 
* '''[[METHYLMALONIC ACIDEMIA, cblB TYPE]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9479/methylmalonic-aciduria-cblb-type Methylmalonic aciduria, cblB type]
 
* '''[[METHYLMALONIC ACIDEMIA, cblH TYPE, FORMERLY]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3582/methylmalonic-acidemia-with-homocystinuria-type-cbld Methylmalonic acidemia with homocystinuria type cblD]
 
* '''[[Methylmalonic aciduria and homocystinuria cblc]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12128/methylmalonic-acidemia-with-homocystinuria-type-cblc Methylmalonic acidemia with homocystinuria type cblC]
 
* '''[[Methylmalonic aciduria and homocystinuria, cblC type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12128/methylmalonic-acidemia-with-homocystinuria-type-cblc Methylmalonic acidemia with homocystinuria type cblC]
 
* '''[[Methylmalonic aciduria and homocystinuria, cblJ type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12621/methylmalonic-acidemia-with-homocystinuria-type-cblj Methylmalonic acidemia with homocystinuria type cblJ]
 
* '''[[Methylmalonic aciduria cblA type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5500/methylmalonic-aciduria-cbla-type Methylmalonic aciduria, cblA type]
 
* '''[[Methylmalonic aciduria cblB type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9479/methylmalonic-aciduria-cblb-type Methylmalonic aciduria, cblB type]
 
* '''[[Methylmalonic aciduria with homocystinuria, type cblD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3582/methylmalonic-acidemia-with-homocystinuria-type-cbld Methylmalonic acidemia with homocystinuria type cblD]
 
* '''[[Methylmalonic aciduria with homocystinuria, type cblF]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3584/methylmalonic-acidemia-with-homocystinuria-type-cblf Methylmalonic acidemia with homocystinuria type cblF]
 
* '''[[Methylmalonic aciduria with homocystinuria, type cblJ]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12621/methylmalonic-acidemia-with-homocystinuria-type-cblj Methylmalonic acidemia with homocystinuria type cblJ]
 
* '''[[Methylmalonic aciduria with homocystinuria, type cblX]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13137/methylmalonic-acidemia-and-homocysteinemia-type-cblx Methylmalonic acidemia and homocysteinemia type cblX]
 
* '''[https://rarediseases.info.nih.gov/diseases/5500/methylmalonic-aciduria-cbla-type Methylmalonic aciduria, cblA type]
 
* '''[https://rarediseases.info.nih.gov/diseases/9479/methylmalonic-aciduria-cblb-type Methylmalonic aciduria, cblB type]
 
* '''[[METHYLMALONIC ACIDURIA, cblB TYPE]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9479/methylmalonic-aciduria-cblb-type Methylmalonic aciduria, cblB type]
 
* '''[[METHYLMALONIC ACIDURIA, cblD TYPE, VARIANT 2, INCLUDED]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3582/methylmalonic-acidemia-with-homocystinuria-type-cbld Methylmalonic acidemia with homocystinuria type cblD]
 
* '''[[METHYLMALONIC ACIDURIA, cblH TYPE, FORMERLY]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3582/methylmalonic-acidemia-with-homocystinuria-type-cbld Methylmalonic acidemia with homocystinuria type cblD]
 
* '''[[Methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cbla complementation type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5500/methylmalonic-aciduria-cbla-type Methylmalonic aciduria, cblA type]
 
* '''[[METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9479/methylmalonic-aciduria-cblb-type Methylmalonic aciduria, cblB type]
 
* '''[https://rarediseases.info.nih.gov/diseases/3586/methylmalonyl-coenzyme-a-mutase-deficiency Methylmalonyl-Coenzyme A mutase deficiency]
 
* '''[https://rarediseases.info.nih.gov/diseases/3588/mevalonic-aciduria Mevalonic aciduria]
 
* '''[[Mevalonicaciduria]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3588/mevalonic-aciduria Mevalonic aciduria]
 
* '''[[Meyer-Schwickerath's syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6465/fraser-syndrome Fraser syndrome]
 
* '''[[MFD Toriello type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1002/branchial-arch-syndrome-x-linked Branchial arch syndrome X-linked]
 
* '''[[MFD1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9124/treacher-collins-syndrome Treacher Collins syndrome]
 
* '''[[MFDGA]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10056/mandibulofacial-dysostosis-with-microcephaly Mandibulofacial dysostosis with microcephaly]
 
* '''[[MFDM]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10056/mandibulofacial-dysostosis-with-microcephaly Mandibulofacial dysostosis with microcephaly]
 
* '''[[MFDM syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10056/mandibulofacial-dysostosis-with-microcephaly Mandibulofacial dysostosis with microcephaly]
 
* '''[[MFM-titinopathy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12591/hereditary-proximal-myopathy-with-early-respiratory-failure Hereditary proximal myopathy with early respiratory failure]
 
* '''[[MFT1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10867/multiple-familial-trichoepithelioma Multiple familial trichoepithelioma]
 
* '''[[MFT2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10867/multiple-familial-trichoepithelioma Multiple familial trichoepithelioma]
 
* '''[[MGA 5]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10344/3-methylglutaconic-aciduria-type-v 3 methylglutaconic aciduria type V]
 
* '''[[MGA type I]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10321/3-methylglutaconyl-coa-hydratase-deficiency-auh-defect 3-methylglutaconyl-CoA hydratase deficiency (AUH defect)]
 
* '''[[MGA type II]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5890/barth-syndrome Barth syndrome]
 
* '''[[MGA type III]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5663/opa3-defect OPA3 defect]
 
* '''[[MGA V]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10344/3-methylglutaconic-aciduria-type-v 3 methylglutaconic aciduria type V]
 
* '''[[MGA3]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5663/opa3-defect OPA3 defect]
 
* '''[[MGA5]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12964/dcma-syndrome DCMA syndrome]
 
* '''[[MGAT2-CDG]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9828/mgat2-cdg-cdg-iia MGAT2-CDG (CDG-IIa)]
 
* '''[https://rarediseases.info.nih.gov/diseases/9828/mgat2-cdg-cdg-iia MGAT2-CDG (CDG-IIa)]
 
* '''[[MGC1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12648/isolated-congenital-megalocornea Isolated congenital megalocornea]
 
* '''[[MGCN]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12648/isolated-congenital-megalocornea Isolated congenital megalocornea]
 
* '''[[MGN]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9180/membranous-nephropathy Membranous nephropathy]
 
* '''[[MGS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10687/mungan-syndrome Mungan syndrome]
 
* '''[[MGUS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7034/monoclonal-gammopathy-of-undetermined-significance Monoclonal gammopathy of undetermined significance]
 
* '''[[MH]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6964/malignant-hyperthermia Malignant hyperthermia]
 
* '''[[MHAC]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10216/microhydranencephaly Microhydranencephaly]
 
* '''[[MHAM]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6202/cowden-syndrome Cowden syndrome]
 
* '''[[MHBD deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10716/2-methyl-3-hydroxybutyric-aciduria 2-methyl-3-hydroxybutyric aciduria]
 
* '''[https://rarediseases.info.nih.gov/diseases/9548/mhc-class-1-deficiency MHC class 1 deficiency]
 
* '''[[MHP1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2638/familial-hemiplegic-migraine-type-1 Familial hemiplegic migraine type 1]
 
* '''[[MHP2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10095/familial-hemiplegic-migraine-type-2 Familial hemiplegic migraine type 2]
 
* '''[[MHP3]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10974/familial-hemiplegic-migraine-type-3 Familial hemiplegic migraine type 3]
 
* '''[[MHS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3363/malignant-hyperthermia-susceptibility-type-1 Malignant hyperthermia susceptibility type 1]
 
* '''[[MHS1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3363/malignant-hyperthermia-susceptibility-type-1 Malignant hyperthermia susceptibility type 1]
 
* '''[[MHS2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3364/malignant-hyperthermia-susceptibility-type-2 Malignant hyperthermia susceptibility type 2]
 
* '''[[MHS3]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3365/malignant-hyperthermia-susceptibility-type-3 Malignant hyperthermia susceptibility type 3]
 
* '''[[MHS4]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3366/malignant-hyperthermia-susceptibility-type-4 Malignant hyperthermia susceptibility type 4]
 
* '''[[MHS5]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3367/malignant-hyperthermia-susceptibility-type-5 Malignant hyperthermia susceptibility type 5]
 
* '''[[MHS6]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3368/malignant-hyperthermia-susceptibility-type-6 Malignant hyperthermia susceptibility type 6]
 
* '''[[Michelin tire baby syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3589/circumferential-skin-creases-kunze-type Circumferential skin creases Kunze type]
 
* '''[[Michellis-Castrillo syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9891/familial-primary-hypomagnesemia-with-hypercalciuria-and-nephrocalcinosis Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/3590/michels-caskey-syndrome Michels Caskey syndrome]
 
* '''[[MICPCH]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12669/x-linked-intellectual-disability-najm-type X-linked intellectual disability, Najm type]
 
* '''[[MICPCH SYNDROME]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12669/x-linked-intellectual-disability-najm-type X-linked intellectual disability, Najm type]
 
* '''[https://rarediseases.info.nih.gov/diseases/5534/micro-syndrome Micro syndrome]
 
* '''[[Microangiopathic hemolytic anemia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9430/congenital-thrombotic-thrombocytopenic-purpura Congenital thrombotic thrombocytopenic purpura]
 
* '''[[Microangiopathic hemolytic anemia, congenital]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9430/congenital-thrombotic-thrombocytopenic-purpura Congenital thrombotic thrombocytopenic purpura]
 
* '''[https://rarediseases.info.nih.gov/diseases/3596/microbrachycephaly-ptosis-cleft-lip Microbrachycephaly ptosis cleft lip]
 
* '''[[Microcephalia vera]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12117/autosomal-recessive-primary-microcephaly Autosomal recessive primary microcephaly]
 
* '''[https://rarediseases.info.nih.gov/diseases/5120/microcephalic-osteodysplastic-primordial-dwarfism-type-1 Microcephalic osteodysplastic primordial dwarfism type 1]
 
* '''[https://rarediseases.info.nih.gov/diseases/9844/microcephalic-osteodysplastic-primordial-dwarfism-type-2 Microcephalic osteodysplastic primordial dwarfism type 2]
 
* '''[[Microcephalic osteodysplastic primordial dwarfism types 1 and 3]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5120/microcephalic-osteodysplastic-primordial-dwarfism-type-1 Microcephalic osteodysplastic primordial dwarfism type 1]
 
* '''[[Microcephalic osteodysplastic primordial dwarfism with tooth abnormalities]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9844/microcephalic-osteodysplastic-primordial-dwarfism-type-2 Microcephalic osteodysplastic primordial dwarfism type 2]
 
* '''[[Microcephalic primordial dwarfism and cataracts]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3602/microcephalic-primordial-dwarfism-toriello-type Microcephalic primordial dwarfism Toriello type]
 
* '''[https://rarediseases.info.nih.gov/diseases/3602/microcephalic-primordial-dwarfism-toriello-type Microcephalic primordial dwarfism Toriello type]
 
* '''[https://rarediseases.info.nih.gov/diseases/895/microcephalic-primordial-dwarfism-montreal-type Microcephalic primordial dwarfism, Montreal type]
 
* '''[https://rarediseases.info.nih.gov/diseases/3603/microcephaly Microcephaly]
 
* '''[[Microcephaly - brain defect - spasticity - hypernatremia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3607/microcephaly-brain-defect-spasticity-hypernatremia Microcephaly brain defect spasticity hypernatremia]
 
* '''[[Microcephaly - intracranial calcification - intellectual disability]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12426/congenital-intrauterine-infection-like-syndrome Congenital intrauterine infection-like syndrome]
 
* '''[[Microcephaly - seizures - developmental delay]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9255/early-infantile-epileptic-encephalopathy Early Infantile Epileptic Encephalopathy]
 
* '''[https://rarediseases.info.nih.gov/diseases/3605/microcephaly-autosomal-dominant Microcephaly autosomal dominant]
 
* '''[[Microcephaly brachydactyly kyphoscoliosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5490/viljoen-kallis-voges-syndrome Viljoen Kallis Voges syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3607/microcephaly-brain-defect-spasticity-hypernatremia Microcephaly brain defect spasticity hypernatremia]
 
* '''[https://rarediseases.info.nih.gov/diseases/3610/microcephaly-cervical-spine-fusion-anomalies Microcephaly cervical spine fusion anomalies]
 
* '''[https://rarediseases.info.nih.gov/diseases/3611/microcephaly-chorioretinopathy-recessive-form Microcephaly chorioretinopathy recessive form]
 
* '''[[Microcephaly cleft palate autosomal dominant]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8623/halal-syndrome Halal syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/230/microcephaly-deafness-syndrome Microcephaly deafness syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3615/microcephaly-glomerulonephritis-marfanoid-habitus Microcephaly glomerulonephritis Marfanoid habitus]
 
* '''[[Microcephaly hypogammaglobulinemia abnormal immunity]]'''
 
See [https://rarediseases.info.nih.gov/diseases/239/say-barber-miller-syndrome Say Barber Miller syndrome]
 
* '''[[Microcephaly immunodeficiency lymphoreticuloma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3904/nijmegen-breakage-syndrome Nijmegen breakage syndrome]
 
* '''[[Microcephaly lymphedema chorioretinal dysplasia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3622/lymphedema-microcephaly-and-chorioretinopathy-syndrome Lymphedema, microcephaly and chorioretinopathy syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3627/microcephaly-microcornea-syndrome-seemanova-type Microcephaly microcornea syndrome Seemanova type]
 
* '''[https://rarediseases.info.nih.gov/diseases/3628/microcephaly-micropenis-convulsions Microcephaly micropenis convulsions]
 
* '''[[Microcephaly micropenis seizures]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3628/microcephaly-micropenis-convulsions Microcephaly micropenis convulsions]
 
* '''[[Microcephaly microphthalmia ectrodactyly of lower limbs and prognathism]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3693/microphthalmia-syndromic-8 Microphthalmia syndromic 8]
 
* '''[https://rarediseases.info.nih.gov/diseases/3629/microcephaly-microphthalmos-blindness Microcephaly microphthalmos blindness]
 
* '''[[Microcephaly nephrosis syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/65/galloway-mowat-syndrome Galloway-Mowat syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3630/microcephaly-nonsyndromal Microcephaly nonsyndromal]
 
* '''[https://rarediseases.info.nih.gov/diseases/3631/microcephaly-pontocerebellar-hypoplasia-dyskinesia Microcephaly pontocerebellar hypoplasia dyskinesia]
 
* '''[[Microcephaly seizures genital hypoplasia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3628/microcephaly-micropenis-convulsions Microcephaly micropenis convulsions]
 
* '''[[Microcephaly vera]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12117/autosomal-recessive-primary-microcephaly Autosomal recessive primary microcephaly]
 
* '''[[Microcephaly with autosomal dominant inheritance]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3605/microcephaly-autosomal-dominant Microcephaly autosomal dominant]
 
* '''[[Microcephaly with cardiomyopathy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3609/microcephaly-cardiomyopathy Microcephaly-cardiomyopathy]
 
* '''[[Microcephaly with chemotactic defect and transient hypogammaglobulinemia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/239/say-barber-miller-syndrome Say Barber Miller syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/7036/microcephaly-with-chorioretinopathy-autosomal-dominant-form Microcephaly with chorioretinopathy, autosomal dominant form]
 
* '''[[Microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3904/nijmegen-breakage-syndrome Nijmegen breakage syndrome]
 
* '''[[microcephaly with pontine and cerebellar hypoplasia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12669/x-linked-intellectual-disability-najm-type X-linked intellectual disability, Najm type]
 
* '''[[Microcephaly with spastic diplegia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9780/paine-syndrome Paine syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/8510/microcephaly-with-spastic-quadriplegia Microcephaly with spastic quadriplegia]
 
* '''[[Microcephaly, Amish type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8606/amish-lethal-microcephaly Amish lethal microcephaly]
 
* '''[[Microcephaly, central nervous system dysfunction, minor craniofacial and limb anomalies, and variable growth deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2672/hersh-podruch-weisskopk-syndrome Hersh Podruch Weisskopk syndrome]
 
* '''[[Microcephaly, congenital heart disease, lung segmentation defects and unilateral renal agenesis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2098/ellis-yale-winter-syndrome Ellis Yale Winter syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3614/microcephaly-corpus-callosum-dysgenesis-and-cleft-lip-palate Microcephaly, corpus callosum dysgenesis and cleft lip-palate]
 
* '''[[Microcephaly, facial clefting, and preaxial polydactyly]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3614/microcephaly-corpus-callosum-dysgenesis-and-cleft-lip-palate Microcephaly, corpus callosum dysgenesis and cleft lip-palate]
 
* '''[[Microcephaly, hiatal hernia, and nephrotic syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/65/galloway-mowat-syndrome Galloway-Mowat syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/8470/microcephaly-holoprosencephaly-and-intrauterine-growth-retardation Microcephaly, holoprosencephaly, and intrauterine growth retardation]
 
* '''[[Microcephaly, IUGR, Hypertelorism, Ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome Wolf-Hirschhorn syndrome]
 
* '''[[Microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy and hypogenitalism]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5534/micro-syndrome Micro syndrome]
 
* '''[[Microcephaly, mild mental retardation, short stature, and skeletal anomalies]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3610/microcephaly-cervical-spine-fusion-anomalies Microcephaly cervical spine fusion anomalies]
 
* '''[[Microcephaly, schizencephaly, decorticated disturbance of the neurological function, congenital optic atrophy and nystagmus]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4868/silengo-lerone-pelizza-syndrome Silengo Lerone Pelizza syndrome]
 
* '''[[Microcephaly, seizures, and developmental delay]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9255/early-infantile-epileptic-encephalopathy Early Infantile Epileptic Encephalopathy]
 
* '''[[Microcephaly, short stature, brachydactyly type D, flattened occiput, low-set large ears, prominent nose, kyphoscoliosis and intellectual disability]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5490/viljoen-kallis-voges-syndrome Viljoen Kallis Voges syndrome]
 
* '''[[Microcephaly, short stature, slow growth, beak nose, micrognathia, skin dyspigmentation and forearm and thumb dysplasia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3670/milner-khallouf-gibson-syndrome Milner Khallouf Gibson syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3604/microcephaly-albinism-digital-anomalies-syndrome Microcephaly-albinism-digital anomalies syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3609/microcephaly-cardiomyopathy Microcephaly-cardiomyopathy]
 
* '''[[Microcephaly-cardiomyopathy syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3609/microcephaly-cardiomyopathy Microcephaly-cardiomyopathy]
 
* '''[[Microcephaly-cerebral malformation-orofaciodigital syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13655/orofaciodigital-syndrome-14 Orofaciodigital syndrome 14]
 
* '''[[Microcephaly-intracranial calcification-intellectual disability syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12426/congenital-intrauterine-infection-like-syndrome Congenital intrauterine infection-like syndrome]
 
* '''[[Microcephaly-microcornea syndrome, Seemanova type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3627/microcephaly-microcornea-syndrome-seemanova-type Microcephaly microcornea syndrome Seemanova type]
 
* '''[[Microcephaly-oculo-digito-esophageal-duodenal syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8407/feingold-syndrome Feingold syndrome]
 
* '''[[Microcoria - congenital nephrosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9420/pierson-syndrome Pierson syndrome]
 
* '''[[Microcoria - congenital nephrotic syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9420/pierson-syndrome Pierson syndrome]
 
* '''[[Microcoria, congenital]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3635/congenital-microcoria Congenital microcoria]
 
* '''[https://rarediseases.info.nih.gov/diseases/10938/microcornea-posterior-megalolenticonus-persistent-fetal-vasculature-coloboma Microcornea posterior megalolenticonus persistent fetal vasculature coloboma]
 
* '''[[Microcornea cataract syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1155/cataract-microcornea-syndrome Cataract microcornea syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3636/microcornea-corectopia-macular-hypoplasia Microcornea corectopia macular hypoplasia]
 
* '''[https://rarediseases.info.nih.gov/diseases/3637/microcornea-glaucoma-and-absent-frontal-sinuses Microcornea, glaucoma, and absent frontal sinuses]
 
* '''[https://rarediseases.info.nih.gov/diseases/10438/microcystic-adnexal-carcinoma Microcystic adnexal carcinoma]
 
* '''[[Microcystic dystrophy of the cornea]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9732/epithelial-basement-membrane-corneal-dystrophy Epithelial basement membrane corneal dystrophy]
 
* '''[[Microcystic infiltrating lymphatic malformation]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13020/microcystic-lymphatic-malformation Microcystic lymphatic malformation]
 
* '''[[Microcystic lymphangioma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13020/microcystic-lymphatic-malformation Microcystic lymphatic malformation]
 
* '''[https://rarediseases.info.nih.gov/diseases/13020/microcystic-lymphatic-malformation Microcystic lymphatic malformation]
 
* '''[[Microcytic anemia and hepatic iron overload]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12360/hypochromic-microcytic-anemia-with-iron-overload Hypochromic microcytic anemia with iron overload]
 
* '''[[Microcytic anemia with liver iron overload]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12360/hypochromic-microcytic-anemia-with-iron-overload Hypochromic microcytic anemia with iron overload]
 
* '''[[Microdeletion 15q13.3 syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10296/15q133-microdeletion-syndrome 15q13.3 microdeletion syndrome]
 
* '''[[Microdeletion 16p11.2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10740/16p112-deletion-syndrome 16p11.2 deletion syndrome]
 
* '''[[Microdeletion 17q21.31 syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10727/koolen-de-vries-syndrome Koolen de Vries syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3638/microdontia-hypodontia-short-stature Microdontia hypodontia short stature]
 
* '''[[Microdontia, hypodontia, short bulbous roots and root canals with strabismus, short stature, and borderline mentality]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3638/microdontia-hypodontia-short-stature Microdontia hypodontia short stature]
 
* '''[[Microduplication 15q13.3 syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/11975/15q133-microduplication-syndrome 15q13.3 microduplication syndrome]
 
* '''[[Microduplication 3q29 syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10360/chromosome-3q29-microduplication-syndrome Chromosome 3q29 microduplication syndrome]
 
* '''[[Microduplication Xp11.22p11.23 syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12766/microduplication-xp1122-p1123-syndrome Microduplication Xp11.22-p11.23 syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/12766/microduplication-xp1122-p1123-syndrome Microduplication Xp11.22-p11.23 syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/7038/microencephaly Microencephaly]
 
* '''[https://rarediseases.info.nih.gov/diseases/3640/microgastria-limb-reduction-defect Microgastria limb reduction defect]
 
* '''[[Microgastria-limb reduction defects association]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3640/microgastria-limb-reduction-defect Microgastria limb reduction defect]
 
* '''[https://rarediseases.info.nih.gov/diseases/10216/microhydranencephaly Microhydranencephaly]
 
* '''[[Micromelic dwarfism with cone epiphyses, metaphyseal dysplasia and vertebral segmentation defects]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3642/spondyloepimetaphyseal-dysplasia-micromelic Spondyloepimetaphyseal dysplasia micromelic]
 
* '''[[Micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1818/desbuquois-syndrome Desbuquois syndrome]
 
* '''[[Micromelic dysplasia congenita with dislocation of radius]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4076/omodysplasia-1 Omodysplasia 1]
 
* '''[[Micropenis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4272/penis-agenesis Penis agenesis]
 
* '''[https://rarediseases.info.nih.gov/diseases/12085/microphthalmia Microphthalmia]
 
* '''[[Microphthalmia and brain atrophy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9292/microphthalmia-syndromic-10 Microphthalmia syndromic 10]
 
* '''[[Microphthalmia and esophageal atresia syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1443/syndromic-microphthalmia-type-3 Syndromic microphthalmia, type 3]
 
* '''[[Microphthalmia and pituitary anomalies]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3645/microphthalmia-syndromic-6 Microphthalmia syndromic 6]
 
* '''[https://rarediseases.info.nih.gov/diseases/3644/microphthalmia-associated-with-colobomatous-cyst Microphthalmia associated with colobomatous cyst]
 
* '''[[Microphthalmia cataracts radiculomegaly and septal heart defects]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4628/oculofaciocardiodental-syndrome Oculofaciocardiodental syndrome]
 
* '''[[Microphthalmia Dermal Aplasia and Sclerocornea syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3659/microphthalmia-with-linear-skin-defects-syndrome Microphthalmia with linear skin defects syndrome]
 
* '''[[Microphthalmia Lenz type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/87/lenz-microphthalmia-syndrome Lenz microphthalmia syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3650/microphthalmia-microtia-fetal-akinesia Microphthalmia microtia fetal akinesia]
 
* '''[[Microphthalmia or anophthalmos with associated anomalies (formerly)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/87/lenz-microphthalmia-syndrome Lenz microphthalmia syndrome]
 
* '''[[Microphthalmia syndromic 1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/87/lenz-microphthalmia-syndrome Lenz microphthalmia syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/9292/microphthalmia-syndromic-10 Microphthalmia syndromic 10]
 
* '''[[Microphthalmia syndromic 2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4628/oculofaciocardiodental-syndrome Oculofaciocardiodental syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/5066/microphthalmia-syndromic-4 Microphthalmia syndromic 4]
 
* '''[https://rarediseases.info.nih.gov/diseases/3692/microphthalmia-syndromic-5 Microphthalmia syndromic 5]
 
* '''[https://rarediseases.info.nih.gov/diseases/3645/microphthalmia-syndromic-6 Microphthalmia syndromic 6]
 
* '''[https://rarediseases.info.nih.gov/diseases/3693/microphthalmia-syndromic-8 Microphthalmia syndromic 8]
 
* '''[https://rarediseases.info.nih.gov/diseases/713/microphthalmia-syndromic-9 Microphthalmia syndromic 9]
 
* '''[[Microphthalmia with ankyloblepharon and mental retardation]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5066/microphthalmia-syndromic-4 Microphthalmia syndromic 4]
 
* '''[[Microphthalmia with brain and digit developmental anomalies]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3645/microphthalmia-syndromic-6 Microphthalmia syndromic 6]
 
* '''[https://rarediseases.info.nih.gov/diseases/9610/microphthalmia-with-cataract-1 Microphthalmia with cataract 1]
 
* '''[[Microphthalmia with facial clefting]]'''
 
See [https://rarediseases.info.nih.gov/diseases/719/anophthalmia-plus-syndrome Anophthalmia plus syndrome]
 
* '''[[Microphthalmia with linear skin defects]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3659/microphthalmia-with-linear-skin-defects-syndrome Microphthalmia with linear skin defects syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3659/microphthalmia-with-linear-skin-defects-syndrome Microphthalmia with linear skin defects syndrome]
 
* '''[[Microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13235/syndromic-microphthalmia-12 Syndromic microphthalmia-12]
 
* '''[[Microphthalmia-anophthalmia-coloboma spectrum]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12085/microphthalmia Microphthalmia]
 
* '''[[Microphthalmia-dermal aplasia-sclerocornea syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3659/microphthalmia-with-linear-skin-defects-syndrome Microphthalmia with linear skin defects syndrome]
 
* '''[[Microphthalmia-microtia-fetal akinesia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3650/microphthalmia-microtia-fetal-akinesia Microphthalmia microtia fetal akinesia]
 
* '''[[Microphthalmia-optic nerve dysplasia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4021/oculo-cerebral-dysplasia Oculo-cerebral dysplasia]
 
* '''[[Microphthalmos bilateral, colobomatous orbital cyst]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3644/microphthalmia-associated-with-colobomatous-cyst Microphthalmia associated with colobomatous cyst]
 
* '''[[Microphthalmos, microcornea, and sclerocornea with short stature and hair and dental abnormalities]]'''
 
See [https://rarediseases.info.nih.gov/diseases/293/rodrigues-blindness Rodrigues blindness]
 
* '''[[Microphthalmos, microencephaly, mental retardation, agenesis of the corpus callosum, hypospadius, and cryptorchidism]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1918/duker-weiss-siber-syndrome Duker Weiss Siber syndrome]
 
* '''[[Micropthalmia syndromic 7]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3659/microphthalmia-with-linear-skin-defects-syndrome Microphthalmia with linear skin defects syndrome]
 
* '''[[Microscopic colitis, collagenous type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6135/collagenous-colitis Collagenous colitis] ''- not a rare disease''
 
* '''[https://rarediseases.info.nih.gov/diseases/3652/microscopic-polyangiitis Microscopic polyangiitis]
 
* '''[[Microsomal triglyceride transfer protein deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5/abetalipoproteinemia Abetalipoproteinemia]
 
* '''[[Microsomal triglyceride transfer protein deficiency disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5/abetalipoproteinemia Abetalipoproteinemia]
 
* '''[https://rarediseases.info.nih.gov/diseases/3653/microsomia-hemifacial-radial-defects Microsomia hemifacial radial defects]
 
* '''[[Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10942/megalocornea---spherophakia---secondary-glaucoma Megalocornea - spherophakia - secondary glaucoma]
 
* '''[https://rarediseases.info.nih.gov/diseases/9462/microspherophakia-with-hernia Microspherophakia with hernia]
 
* '''[[Microspherophakia-metaphyseal dysplasia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5481/verloes-van-maldergem-marneffe-syndrome Verloes Van Maldergem Marneffe syndrome]
 
* '''[[Microsporidiasis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3655/microsporidiosis Microsporidiosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/3655/microsporidiosis Microsporidiosis]
 
* '''[[Microtia aortic arch syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9675/isotretinoin-embryopathy-like-syndrome Isotretinoin embryopathy like syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/10300/microtia-eye-coloboma-and-imperforation-of-the-nasolacrimal-duct Microtia eye coloboma and imperforation of the nasolacrimal duct]
 
* '''[[Microtia, absent patellae, micrognathia syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2033/meier-gorlin-syndrome Meier-Gorlin syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3657/microtia-meatal-atresia-and-conductive-deafness Microtia, meatal atresia and conductive deafness]
 
* '''[https://rarediseases.info.nih.gov/diseases/431/microtia-anotia Microtia-Anotia]
 
* '''[[Microvillus atrophy, congenital]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7039/microvillus-inclusion-disease Microvillus inclusion disease]
 
* '''[https://rarediseases.info.nih.gov/diseases/7039/microvillus-inclusion-disease Microvillus inclusion disease]
 
* '''[[MIDAS syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3659/microphthalmia-with-linear-skin-defects-syndrome Microphthalmia with linear skin defects syndrome]
 
* '''[[Midbrain stroke syndromes]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8676/weber-syndrome Weber syndrome]
 
* '''[[MIDD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4003/maternally-inherited-diabetes-and-deafness Maternally inherited diabetes and deafness]
 
* '''[[Middigital hair]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9992/midphalangeal-hair Midphalangeal hair]
 
* '''[https://rarediseases.info.nih.gov/diseases/3660/midline-cleft-of-lower-lip Midline cleft of lower lip]
 
* '''[[Midline development field defects]]'''
 
See [https://rarediseases.info.nih.gov/diseases/246/schisis-association Schisis association]
 
* '''[[Midline granulomatosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7880/granulomatosis-with-polyangiitis Granulomatosis with polyangiitis]
 
* '''[https://rarediseases.info.nih.gov/diseases/7041/midline-lethal-granuloma Midline lethal granuloma]
 
* '''[https://rarediseases.info.nih.gov/diseases/9992/midphalangeal-hair Midphalangeal hair]
 
* '''[[Miescher elastoma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10103/elastosis-perforans-serpiginosa Elastosis perforans serpiginosa]
 
* '''[[Mietens syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3524/mietens-weber-syndrome Mietens-Weber syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3524/mietens-weber-syndrome Mietens-Weber syndrome]
 
* '''[[Mievis Verellen-Dumoulin syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4838/short-stature-syndrome-brussels-type Short stature syndrome, Brussels type]
 
* '''[https://rarediseases.info.nih.gov/diseases/5896/migraine-with-brainstem-aura Migraine with brainstem aura]
 
* '''[[Migraine, familial hemiplegic 1, with progressive cerebellar ataxia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2638/familial-hemiplegic-migraine-type-1 Familial hemiplegic migraine type 1]
 
* '''[[Migraine, familial hemiplegic, 2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10095/familial-hemiplegic-migraine-type-2 Familial hemiplegic migraine type 2]
 
* '''[[Migraine, familial hemiplegic, 3]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10974/familial-hemiplegic-migraine-type-3 Familial hemiplegic migraine type 3]
 
* '''[[Migrainous syndrome with cerebrospinal fluid pleocytosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13277/handl-syndrome HaNDL syndrome]
 
* '''[[Migrating partial epilepsy of infancy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12919/malignant-migrating-partial-seizures-of-infancy Malignant migrating partial seizures of infancy]
 
* '''[[Migrating partial seizures in infancy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12919/malignant-migrating-partial-seizures-of-infancy Malignant migrating partial seizures of infancy]
 
* '''[[Migrating partial seizures of infancy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12919/malignant-migrating-partial-seizures-of-infancy Malignant migrating partial seizures of infancy]
 
* '''[[Mikaelian syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9723/congenital-ectodermal-dysplasia-with-hearing-loss Congenital ectodermal dysplasia with hearing loss]
 
* '''[[Mikulicz disease (former)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7043/igg4-related-dacryoadenitis-and-sialadenitis IgG4-related dacryoadenitis and sialadenitis]
 
* '''[[Mikulicz syndrome (former)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7043/igg4-related-dacryoadenitis-and-sialadenitis IgG4-related dacryoadenitis and sialadenitis]
 
* '''[[Mikulicz's disease (former)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7043/igg4-related-dacryoadenitis-and-sialadenitis IgG4-related dacryoadenitis and sialadenitis]
 
* '''[[Mild ABCB11 deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10029/benign-recurrent-intrahepatic-cholestasis-2 Benign recurrent intrahepatic cholestasis 2]
 
* '''[[Mild androgen insensitivity syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10596/androgen-insensitivity-syndrome-mild Androgen insensitivity syndrome, mild]
 
* '''[[Mild ATP8B1 deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10028/benign-recurrent-intrahepatic-cholestasis-1 Benign recurrent intrahepatic cholestasis 1]
 
* '''[[Mild form of FAP]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8532/attenuated-familial-adenomatous-polyposis Attenuated familial adenomatous polyposis]
 
* '''[[Mild mental deficiency, short stature, macrocranium, cardiac anomalies, cutis laxa, peculiar facies, wrinkled palms and soles, small vertebral bodies]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1083/cantu-sanchez-corona-hernandez-syndrome Cantu Sanchez-Corona Hernandez syndrome]
 
* '''[[Mild nemaline myopathy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7171/childhood-onset-nemaline-myopathy Childhood-onset nemaline myopathy]
 
* '''[[Mild osteogenesis imperfecta]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8694/osteogenesis-imperfecta-type-i Osteogenesis imperfecta type I]
 
* '''[https://rarediseases.info.nih.gov/diseases/10324/mild-phenylketonuria Mild phenylketonuria]
 
* '''[[Mild PKU]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10324/mild-phenylketonuria Mild phenylketonuria]
 
* '''[[Mild short stature, microcephaly, ptosis-blepharophimosis, facial asymmetry, and radioulnar synostosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3057/jorgenson-lenz-syndrome Jorgenson Lenz syndrome]
 
* '''[[Miliaria, apocrine]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6462/fox-fordyce-disease Fox-Fordyce disease]
 
* '''[[Miliary hepatocellular adenomatosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10929/nodular-regenerative-hyperplasia Nodular regenerative hyperplasia]
 
* '''[https://rarediseases.info.nih.gov/diseases/8410/miller-syndrome Miller syndrome]
 
* '''[[Miller-Dieker lissencephaly syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3669/miller-dieker-syndrome Miller-Dieker syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3669/miller-dieker-syndrome Miller-Dieker syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3668/miller-fisher-syndrome Miller-Fisher syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3670/milner-khallouf-gibson-syndrome Milner Khallouf Gibson syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/7220/milroy-disease Milroy disease]
 
* '''[[Milroy's disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7220/milroy-disease Milroy disease]
 
* '''[[MILS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3671/mitochondrial-dna-associated-leigh-syndrome Mitochondrial DNA-associated Leigh syndrome]
 
* '''[[Minamata disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3575/fetal-methylmercury-syndrome Fetal methylmercury syndrome]
 
* '''[[MINDS syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13636/smith-kingsmore-syndrome Smith-Kingsmore syndrome]
 
* '''[[Mineralocorticoid excess]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7456/primary-hyperaldosteronism Primary hyperaldosteronism] ''- not a rare disease''
 
* '''[https://rarediseases.info.nih.gov/diseases/10316/minicore-myopathy-with-external-ophthalmoplegia Minicore myopathy with external ophthalmoplegia]
 
* '''[https://rarediseases.info.nih.gov/diseases/9129/minicore-myopathy-antenatal-onset-with-arthrogryposis Minicore myopathy, antenatal onset, with arthrogryposis]
 
* '''[[Minicore myopathy, severe classic form]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4723/rigid-spine-syndrome Rigid spine syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/9147/minimal-change-disease Minimal change disease]
 
* '''[[Minimal change glomerulopathy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9147/minimal-change-disease Minimal change disease]
 
* '''[[Minimal change nephrotic syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9147/minimal-change-disease Minimal change disease]
 
* '''[[Minor streblomicrodactyly, familial]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9448/familial-streblodactyly Familial streblodactyly]
 
* '''[[Minoxidil antenatal exposure]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2308/fetal-minoxidil-syndrome Fetal minoxidil syndrome]
 
* '''[[Minoxidil antenatal infection]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2308/fetal-minoxidil-syndrome Fetal minoxidil syndrome]
 
* '''[[Miosis, congenital]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3635/congenital-microcoria Congenital microcoria]
 
* '''[https://rarediseases.info.nih.gov/diseases/13108/mirage-syndrome MIRAGE syndrome]
 
* '''[[Mirhosseini-Holmes-Walton syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4688/retinopathy-pigmentary-mental-retardation Retinopathy pigmentary mental retardation]
 
* '''[https://rarediseases.info.nih.gov/diseases/10177/mirizzi-syndrome Mirizzi syndrome]
 
* '''[[Mirizzi's syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10177/mirizzi-syndrome Mirizzi syndrome]
 
* '''[[Mirror hands and feet with nasal defects]]'''
 
See [https://rarediseases.info.nih.gov/diseases/155/laurin-sandrow-syndrome Laurin-Sandrow syndrome]
 
* '''[[Mirror movements]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12551/congenital-mirror-movement-disorder Congenital mirror movement disorder]
 
* '''[https://rarediseases.info.nih.gov/diseases/3676/mirror-polydactyly-segmentation-and-limbs-defects Mirror polydactyly segmentation and limbs defects]
 
* '''[[Mismatch Repair Cancer Syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/420/turcot-syndrome Turcot syndrome]
 
* '''[[Mismatch Repair Deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/420/turcot-syndrome Turcot syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/12058/misophonia Misophonia]
 
* '''[[Missouri type of spondyloepimetaphyseal dysplasia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10618/spondyloepimetaphyseal-dysplasia-missouri-type Spondyloepimetaphyseal dysplasia Missouri type]
 
* '''[[Mitchell disease (formerly)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6377/erythromelalgia Erythromelalgia]
 
* '''[[Mitchell-Riley syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5237/hypoplastic-pancreas-intestinal-atresia-hypoplastic-gallbladder-syndrome Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome]
 
* '''[[Mitochondrial acetoacetyl-CoA Thiolase deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/872/beta-ketothiolase-deficiency Beta ketothiolase deficiency]
 
* '''[[MITOCHONDRIAL ASPARTYL-tRNA SYNTHETASE DEFICIENCY]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12652/leukoencephalopathy-with-brain-stem-and-spinal-cord-involvement-and-lactate-elevation Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation]
 
* '''[[Mitochondrial carbonic anhydrase va deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13201/carbonic-anhydrase-va-deficiency Carbonic anhydrase VA deficiency]
 
* '''[[Mitochondrial complex deficiency, combined]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10522/myopathy-mitochondrial-progressive-with-congenital-cataract-hearing-loss-and-developmental-delay Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay]
 
* '''[https://rarediseases.info.nih.gov/diseases/3908/mitochondrial-complex-i-deficiency Mitochondrial complex I deficiency]
 
* '''[https://rarediseases.info.nih.gov/diseases/5053/mitochondrial-complex-ii-deficiency Mitochondrial complex II deficiency]
 
* '''[https://rarediseases.info.nih.gov/diseases/8295/mitochondrial-complex-iii-deficiency Mitochondrial complex III deficiency]
 
* '''[[Mitochondrial complex IV deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/48/cytochrome-c-oxidase-deficiency Cytochrome c oxidase deficiency]
 
* '''[https://rarediseases.info.nih.gov/diseases/1459/mitochondrial-complex-v-deficiency Mitochondrial complex V deficiency]
 
* '''[[Mitochondrial cytopathy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6817/kearns-sayre-syndrome Kearns-Sayre syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/10305/mitochondrial-disease-with-severe-hypotonia-lactic-acidaemia-and-hyperammonemia Mitochondrial disease with severe hypotonia, lactic acidaemia and hyperammonemia]
 
* '''[https://rarediseases.info.nih.gov/diseases/13643/mitochondrial-dna-depletion-syndrome Mitochondrial DNA depletion syndrome]
 
* '''[[Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13298/fbxl4-related-encephalomyopathic-mitochondrial-dna-depletion-syndrome FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome]
 
* '''[[Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13644/mitochondrial-dna-depletion-syndrome-hepatocerebral-form-due-to-dguok-deficiency Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency]
 
* '''[[Mitochondrial DNA depletion syndrome 6]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3972/mpv17-related-hepatocerebral-mitochondrial-dna-depletion-syndrome MPV17-related hepatocerebral mitochondrial DNA depletion syndrome]
 
* '''[[Mitochondrial DNA depletion syndrome 8A]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13200/rrm2b-related-mitochondrial-dna-depletion-syndrome RRM2B-related mitochondrial DNA depletion syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3681/mitochondrial-dna-depletion-syndrome-encephalomyopathic-form-with-methylmalonic-aciduria Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria]
 
* '''[[Mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3681/mitochondrial-dna-depletion-syndrome-encephalomyopathic-form-with-methylmalonic-aciduria Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria]
 
* '''[[Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13200/rrm2b-related-mitochondrial-dna-depletion-syndrome RRM2B-related mitochondrial DNA depletion syndrome]
 
* '''[[Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13298/fbxl4-related-encephalomyopathic-mitochondrial-dna-depletion-syndrome FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/13644/mitochondrial-dna-depletion-syndrome-hepatocerebral-form-due-to-dguok-deficiency Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency]
 
* '''[[Mitochondrial DNA depletion syndrome-5]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3681/mitochondrial-dna-depletion-syndrome-encephalomyopathic-form-with-methylmalonic-aciduria Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria]
 
* '''[https://rarediseases.info.nih.gov/diseases/3671/mitochondrial-dna-associated-leigh-syndrome Mitochondrial DNA-associated Leigh syndrome]
 
* '''[[Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12965/tmem70-defect TMEM70 defect]
 
* '''[[Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12965/tmem70-defect TMEM70 defect]
 
* '''[[Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12965/tmem70-defect TMEM70 defect]
 
* '''[[Mitochondrial encephalomyopathy aminoacidopathy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3681/mitochondrial-dna-depletion-syndrome-encephalomyopathic-form-with-methylmalonic-aciduria Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria]
 
* '''[https://rarediseases.info.nih.gov/diseases/7009/mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes]
 
* '''[[Mitochondrial enoyl CoA reductase protein-associated neurodegeneration]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13488/mepan-syndrome MEPAN syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/7048/mitochondrial-genetic-disorders Mitochondrial genetic disorders]
 
* '''[https://rarediseases.info.nih.gov/diseases/12569/mitochondrial-membrane-protein-associated-neurodegeneration Mitochondrial Membrane Protein-Associated Neurodegeneration]
 
* '''[https://rarediseases.info.nih.gov/diseases/3881/mitochondrial-myopathy-with-diabetes Mitochondrial myopathy with diabetes]
 
* '''[https://rarediseases.info.nih.gov/diseases/3682/mitochondrial-myopathy-with-lactic-acidosis Mitochondrial myopathy with lactic acidosis]
 
* '''[[Mitochondrial myopathy, lipid type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3881/mitochondrial-myopathy-with-diabetes Mitochondrial myopathy with diabetes]
 
* '''[[Mitochondrial NADH dehydrogenase component of complex I, deficiency of]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3908/mitochondrial-complex-i-deficiency Mitochondrial complex I deficiency]
 
* '''[https://rarediseases.info.nih.gov/diseases/9920/mitochondrial-neurogastrointestinal-encephalopathy-syndrome Mitochondrial neurogastrointestinal encephalopathy syndrome]
 
* '''[[Mitochondrial respiratory chain complex II deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5053/mitochondrial-complex-ii-deficiency Mitochondrial complex II deficiency]
 
* '''[https://rarediseases.info.nih.gov/diseases/13019/mitochondrial-short-chain-enoyl-coa-hydratase-1-deficiency Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency]
 
* '''[https://rarediseases.info.nih.gov/diseases/3684/mitochondrial-trifunctional-protein-deficiency Mitochondrial trifunctional protein deficiency]
 
* '''[https://rarediseases.info.nih.gov/diseases/3685/mitral-atresia Mitral atresia]
 
* '''[https://rarediseases.info.nih.gov/diseases/2362/mitral-regurgitation-conductive-deafness-and-fusion-of-cervical-vertebrae-and-of-carpal-and-tarsal-bones Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones]
 
* '''[[Mitral regurgitation, familial]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3688/mitral-valve-prolapse-familial-x-linked Mitral valve prolapse, familial, X-linked]
 
* '''[https://rarediseases.info.nih.gov/diseases/3687/mitral-valve-prolapse-familial-autosomal-dominant Mitral valve prolapse, familial, autosomal dominant]
 
* '''[https://rarediseases.info.nih.gov/diseases/3688/mitral-valve-prolapse-familial-x-linked Mitral valve prolapse, familial, X-linked]
 
* '''[[Mixed cell tumors containing both neural ganglionic cells and neural glial cell components]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2430/ganglioglioma Ganglioglioma]
 
* '''[[Mixed cerebral palsy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10450/cerebral-palsy Cerebral palsy] ''- not a rare disease''
 
* '''[https://rarediseases.info.nih.gov/diseases/7051/mixed-connective-tissue-disease Mixed connective tissue disease]
 
* '''[[Mixed dust pneumoconiosis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8374/labrador-lung Labrador lung]
 
* '''[[Mixed hyperlipemia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6704/hyperlipoproteinemia-type-5 Hyperlipoproteinemia type 5]
 
* '''[[Mixed lineage acute leukemia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8638/acute-leukemia-of-ambiguous-lineage Acute leukemia of ambiguous lineage]
 
* '''[[Mixed müllerian cancer of corpus uteri]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12335/uterine-carcinosarcoma Uterine Carcinosarcoma]
 
* '''[[Mixed Mullerian tumor]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6966/malignant-mixed-mullerian-tumor Malignant mixed Mullerian tumor]
 
* '''[[Mixed phenotype acute leukemia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8638/acute-leukemia-of-ambiguous-lineage Acute leukemia of ambiguous lineage]
 
* '''[[Mixed sclerosing bone dystrophy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3690/melorheostosis-with-osteopoikilosis Melorheostosis with osteopoikilosis]
 
* '''[[Mixed spasmodic dysphonia (type)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7668/spasmodic-dysphonia Spasmodic dysphonia]
 
* '''[[Mixed tumor, Mullerian]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6966/malignant-mixed-mullerian-tumor Malignant mixed Mullerian tumor]
 
* '''[[Miyoshi distal myopathy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9676/miyoshi-myopathy Miyoshi myopathy]
 
* '''[https://rarediseases.info.nih.gov/diseases/9676/miyoshi-myopathy Miyoshi myopathy]
 
* '''[[MJD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6801/spinocerebellar-ataxia-3 Spinocerebellar ataxia 3]
 
* '''[[MKKS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3427/mckusick-kaufman-syndrome McKusick Kaufman syndrome]
 
* '''[[MKS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3436/meckel-syndrome Meckel syndrome]
 
* '''[[MKS2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8743/meckel-syndrome-type-2 Meckel syndrome type 2]
 
* '''[[MKS3]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8744/meckel-syndrome-type-3 Meckel syndrome type 3]
 
* '''[[ML 2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6749/i-cell-disease I cell disease]
 
* '''[[ML 3 A]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3806/mucolipidosis-iii-alphabeta Mucolipidosis III alpha/beta]
 
* '''[[ML 4]]'''
 
See [https://rarediseases.info.nih.gov/diseases/94/mucolipidosis-type-4 Mucolipidosis type 4]
 
* '''[[ML disorder type 2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6749/i-cell-disease I cell disease]
 
* '''[[ML1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7183/sialidosis-type-ii Sialidosis, type II]
 
* '''[[ML3]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3806/mucolipidosis-iii-alphabeta Mucolipidosis III alpha/beta]
 
* '''[[MLASA]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3885/sideroblastic-anemia-and-mitochondrial-myopathy Sideroblastic anemia and mitochondrial myopathy]
 
* '''[[MLC]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3445/megalencephalic-leukoencephalopathy-with-subcortical-cysts Megalencephalic leukoencephalopathy with subcortical cysts]
 
* '''[[MLD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3230/metachromatic-leukodystrophy Metachromatic leukodystrophy]
 
* '''[[MLRD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3640/microgastria-limb-reduction-defect Microgastria limb reduction defect]
 
* '''[[MLS syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3659/microphthalmia-with-linear-skin-defects-syndrome Microphthalmia with linear skin defects syndrome]
 
* '''[[MLT]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10467/multifocal-lymphangioendotheliomatosis-with-thrombocytopenia Multifocal lymphangioendotheliomatosis with thrombocytopenia]
 
* '''[[MM]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9676/miyoshi-myopathy Miyoshi myopathy]
 
* '''[[MMA]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7033/methylmalonic-acidemia Methylmalonic acidemia]
 
* '''[[MMA cbl A type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5500/methylmalonic-aciduria-cbla-type Methylmalonic aciduria, cblA type]
 
* '''[[MMAD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10824/acth-independent-macronodular-adrenal-hyperplasia ACTH-independent macronodular adrenal hyperplasia]
 
* '''[[MMAS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12980/monoclonal-mast-cell-activation-syndrome Monoclonal mast cell activation syndrome]
 
* '''[[MMDD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/547/adenosine-monophosphate-deaminase-1-deficiency Adenosine monophosphate deaminase 1 deficiency]
 
* '''[[MMDK]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3074/mesomelic-dysplasia-kantaputra-type Mesomelic dysplasia Kantaputra type]
 
* '''[[MMEP]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3693/microphthalmia-syndromic-8 Microphthalmia syndromic 8]
 
* '''[[MMEP syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3693/microphthalmia-syndromic-8 Microphthalmia syndromic 8]
 
* '''[[MMF]]'''
 
See [https://rarediseases.info.nih.gov/diseases/176/macrophagic-myofasciitis Macrophagic myofasciitis]
 
* '''[[MMIH syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3442/megacystis-microcolon-intestinal-hypoperistalsis-syndrome Megacystis microcolon intestinal hypoperistalsis syndrome]
 
* '''[[MMIHS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3442/megacystis-microcolon-intestinal-hypoperistalsis-syndrome Megacystis microcolon intestinal hypoperistalsis syndrome]
 
* '''[[MMMT]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6966/malignant-mixed-mullerian-tumor Malignant mixed Mullerian tumor]
 
* '''[[MMMT of the ovary]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7296/ovarian-carcinosarcoma Ovarian carcinosarcoma]
 
* '''[[MMN]]'''
 
See [https://rarediseases.info.nih.gov/diseases/11011/multifocal-motor-neuropathy Multifocal motor neuropathy]
 
* '''[[MMNCB]]'''
 
See [https://rarediseases.info.nih.gov/diseases/11011/multifocal-motor-neuropathy Multifocal motor neuropathy]
 
* '''[[MMND]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10742/madras-motor-neuron-disease Madras motor neuron disease] ''- not a rare disease''
 
* '''[[MMPEI]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12919/malignant-migrating-partial-seizures-of-infancy Malignant migrating partial seizures of infancy]
 
* '''[[MMPSI]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12919/malignant-migrating-partial-seizures-of-infancy Malignant migrating partial seizures of infancy]
 
* '''[[MMR Deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/420/turcot-syndrome Turcot syndrome]
 
* '''[[MMR syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3448/megalocornea-intellectual-disability-syndrome Megalocornea-intellectual disability syndrome]
 
* '''[[MMRCS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/420/turcot-syndrome Turcot syndrome]
 
* '''[[MMS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9648/medial-medullary-syndrome Medial Medullary Syndrome]
 
* '''[[MMT syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8407/feingold-syndrome Feingold syndrome]
 
* '''[[MND]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5786/amyotrophic-lateral-sclerosis Amyotrophic lateral sclerosis]
 
* '''[[MNDJ]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10133/neuropathy-distal-hereditary-motor-jerash-type Neuropathy, distal hereditary motor, Jerash type]
 
* '''[[MNG/CRD/DA]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1671/daneman-davy-mancer-syndrome Daneman Davy Mancer syndrome]
 
* '''[[MNGIE]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9920/mitochondrial-neurogastrointestinal-encephalopathy-syndrome Mitochondrial neurogastrointestinal encephalopathy syndrome]
 
* '''[[MNGIE syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9920/mitochondrial-neurogastrointestinal-encephalopathy-syndrome Mitochondrial neurogastrointestinal encephalopathy syndrome]
 
* '''[[MNRI]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8491/radiation-induced-meningioma Radiation induced meningioma]
 
* '''[[MNS]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7011/melnick-needles-syndrome Melnick-Needles syndrome]
 
* '''[[MOBA]]'''
 
See [https://rarediseases.info.nih.gov/diseases/9292/microphthalmia-syndromic-10 Microphthalmia syndromic 10]
 
* '''[[Mobius syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8549/moebius-syndrome Moebius syndrome]
 
* '''[[Mobius syndrome 2 (formerly)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8583/hereditary-congenital-facial-paresis Hereditary congenital facial paresis]
 
* '''[[MOCOD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3705/molybdenum-cofactor-deficiency Molybdenum cofactor deficiency]
 
* '''[[MODY]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3697/maturity-onset-diabetes-of-the-young Maturity-onset diabetes of the young]
 
* '''[[MODY type 3]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3697/maturity-onset-diabetes-of-the-young Maturity-onset diabetes of the young]
 
* '''[[MODY glucokinase-related]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3697/maturity-onset-diabetes-of-the-young Maturity-onset diabetes of the young]
 
* '''[[MODY hepatocyte nuclear factor-1-alpha related]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3697/maturity-onset-diabetes-of-the-young Maturity-onset diabetes of the young]
 
* '''[[MODY HNF4A related]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3697/maturity-onset-diabetes-of-the-young Maturity-onset diabetes of the young]
 
* '''[[MODY insulin promoter factor-1 related]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3697/maturity-onset-diabetes-of-the-young Maturity-onset diabetes of the young]
 
* '''[[MODY KLF11 related]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3697/maturity-onset-diabetes-of-the-young Maturity-onset diabetes of the young]
 
* '''[[MODY NEUROD1 related]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3697/maturity-onset-diabetes-of-the-young Maturity-onset diabetes of the young]
 
* '''[[MODY PAX4 related]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3697/maturity-onset-diabetes-of-the-young Maturity-onset diabetes of the young]
 
* '''[[MODY type 1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3697/maturity-onset-diabetes-of-the-young Maturity-onset diabetes of the young]
 
* '''[[MODY type 2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3697/maturity-onset-diabetes-of-the-young Maturity-onset diabetes of the young]
 
* '''[[MODY type 4]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3697/maturity-onset-diabetes-of-the-young Maturity-onset diabetes of the young]
 
* '''[[MODY type 5]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3697/maturity-onset-diabetes-of-the-young Maturity-onset diabetes of the young]
 
* '''[[MODY type 6]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3697/maturity-onset-diabetes-of-the-young Maturity-onset diabetes of the young]
 
* '''[[MODY type 7]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3697/maturity-onset-diabetes-of-the-young Maturity-onset diabetes of the young]
 
* '''[[MODY type 9]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3697/maturity-onset-diabetes-of-the-young Maturity-onset diabetes of the young]
 
* '''[[MODY1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3697/maturity-onset-diabetes-of-the-young Maturity-onset diabetes of the young]
 
* '''[[MODY2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3697/maturity-onset-diabetes-of-the-young Maturity-onset diabetes of the young]
 
* '''[[MODY3]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3697/maturity-onset-diabetes-of-the-young Maturity-onset diabetes of the young]
 
* '''[[MODY4]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3697/maturity-onset-diabetes-of-the-young Maturity-onset diabetes of the young]
 
* '''[[MODY5]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3697/maturity-onset-diabetes-of-the-young Maturity-onset diabetes of the young]
 
* '''[[MODY6]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3697/maturity-onset-diabetes-of-the-young Maturity-onset diabetes of the young]
 
* '''[[MODY7]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3697/maturity-onset-diabetes-of-the-young Maturity-onset diabetes of the young]
 
* '''[[MODY8]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3697/maturity-onset-diabetes-of-the-young Maturity-onset diabetes of the young]
 
* '''[[MODY9]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3697/maturity-onset-diabetes-of-the-young Maturity-onset diabetes of the young]
 
* '''[https://rarediseases.info.nih.gov/diseases/3698/moebius-axonal-neuropathy-hypogonadism Moebius axonal neuropathy hypogonadism]
 
* '''[[Moebius sequence]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8549/moebius-syndrome Moebius syndrome]
 
* '''[[Moebius sequence, Robin complex, and hypotonia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3889/carey-fineman-ziter-syndrome Carey-Fineman-Ziter syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/8549/moebius-syndrome Moebius syndrome]
 
* '''[[Moebius syndrome 2 (formerly)]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8583/hereditary-congenital-facial-paresis Hereditary congenital facial paresis]
 
* '''[[Moebius syndrome with hypogonadotrophic hypogonadism and progressive peripheral neuropathy axonal and demyelinating type]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3698/moebius-axonal-neuropathy-hypogonadism Moebius axonal neuropathy hypogonadism]
 
* '''[[Moerman Van den berghe Fryns syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3699/fryns-syndrome Fryns syndrome]
 
* '''[[Moersch-Woltman syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5023/stiff-person-syndrome Stiff person syndrome]
 
* '''[[Moeschler Clarren syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3653/microsomia-hemifacial-radial-defects Microsomia hemifacial radial defects]
 
* '''[[MOGS-CDG]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10767/mogs-cdg-cdg-iib MOGS-CDG (CDG-IIb)]
 
* '''[https://rarediseases.info.nih.gov/diseases/10767/mogs-cdg-cdg-iib MOGS-CDG (CDG-IIb)]
 
* '''[[Mohr syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3701/orofaciodigital-syndrome-2 Orofaciodigital syndrome 2]
 
* '''[https://rarediseases.info.nih.gov/diseases/8331/mohr-tranebjaerg-syndrome Mohr-Tranebjaerg syndrome]
 
* '''[[Mohr-Wriedt type brachydactyly]]'''
 
See [https://rarediseases.info.nih.gov/diseases/979/brachydactyly-type-a2 Brachydactyly type A2]
 
* '''[[Molar I reinclusion]]'''
 
See [https://rarediseases.info.nih.gov/diseases/701/ankylosis-of-teeth Ankylosis of teeth]
 
* '''[[Molar pregnancy]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10263/hydatidiform-mole Hydatidiform mole]
 
* '''[https://rarediseases.info.nih.gov/diseases/10868/mollaret-meningitis Mollaret meningitis]
 
* '''[[Mollaret's meningitis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10868/mollaret-meningitis Mollaret meningitis]
 
* '''[https://rarediseases.info.nih.gov/diseases/3704/moloney-syndrome Moloney syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/3705/molybdenum-cofactor-deficiency Molybdenum cofactor deficiency]
 
* '''[https://rarediseases.info.nih.gov/diseases/178/momo-syndrome MOMO syndrome]
 
* '''[[MONA syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13743/multicentric-osteolysis-nodulosis-and-arthropathy Multicentric osteolysis, nodulosis and arthropathy]
 
* '''[[Monday morning fever]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5976/byssinosis Byssinosis]
 
* '''[https://rarediseases.info.nih.gov/diseases/8215/mondini-dysplasia Mondini dysplasia]
 
* '''[https://rarediseases.info.nih.gov/diseases/7054/mondor-disease Mondor disease]
 
* '''[[Mondor's disease]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7054/mondor-disease Mondor disease]
 
* '''[[Mondor's syndrome of superficial thrombophlebitis]]'''
 
See [https://rarediseases.info.nih.gov/diseases/7054/mondor-disease Mondor disease]
 
* '''[https://rarediseases.info.nih.gov/diseases/93/monilethrix Monilethrix]
 
* '''[https://rarediseases.info.nih.gov/diseases/10722/monkeypox Monkeypox]
 
* '''[[Monkeypox virus infection]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10722/monkeypox Monkeypox]
 
* '''[https://rarediseases.info.nih.gov/diseases/3531/monoamine-oxidase-a-deficiency Monoamine oxidase A deficiency]
 
* '''[[Monocarboxylate transporter-8 deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5617/allan-herndon-dudley-syndrome Allan-Herndon-Dudley syndrome]
 
* '''[https://rarediseases.info.nih.gov/diseases/7034/monoclonal-gammopathy-of-undetermined-significance Monoclonal gammopathy of undetermined significance]
 
* '''[https://rarediseases.info.nih.gov/diseases/12980/monoclonal-mast-cell-activation-syndrome Monoclonal mast cell activation syndrome]
 
* '''[[Monoclonal MCAD]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12980/monoclonal-mast-cell-activation-syndrome Monoclonal mast cell activation syndrome]
 
* '''[[Monocyte - B - natural killer - dendritic cell deficiency]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10934/dendritic-cell-monocyte-b-lymphocyte-and-natural-killer-lymphocyte-deficiency Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency]
 
* '''[[Monocytopenia and mycobacterial infection syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10934/dendritic-cell-monocyte-b-lymphocyte-and-natural-killer-lymphocyte-deficiency Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency]
 
* '''[[Monocytopenia with susceptibility to infections]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10934/dendritic-cell-monocyte-b-lymphocyte-and-natural-killer-lymphocyte-deficiency Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency]
 
* '''[[Monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10934/dendritic-cell-monocyte-b-lymphocyte-and-natural-killer-lymphocyte-deficiency Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency]
 
* '''[https://rarediseases.info.nih.gov/diseases/10257/monogenic-diabetes Monogenic diabetes] ''- not a rare disease''
 
* '''[[MONOMAC]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10934/dendritic-cell-monocyte-b-lymphocyte-and-natural-killer-lymphocyte-deficiency Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency]
 
* '''[https://rarediseases.info.nih.gov/diseases/9697/monomelic-amyotrophy Monomelic amyotrophy]
 
* '''[[Monomodal visual amnesia]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8/agnosia Agnosia]
 
* '''[[Monomorphic clear cell tumor]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6364/epithelial-myoepithelial-carcinoma Epithelial-myoepithelial carcinoma]
 
* '''[[Monomorphic NK-cell lymphoma]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10556/blastic-plasmacytoid-dendritic-cell Blastic plasmacytoid dendritic cell]
 
* '''[[Mononen Karnes Senac syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/4886/brachydactyly-mononen-type Brachydactyly Mononen type]
 
* '''[https://rarediseases.info.nih.gov/diseases/7056/mononeuritis-multiplex Mononeuritis multiplex]
 
* '''[[Monosaccharide malabsorption]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6521/glucose-galactose-malabsorption Glucose-galactose malabsorption]
 
* '''[[Monosomy 10p]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1323/chromosome-10p-deletion Chromosome 10p deletion]
 
* '''[[Monosomy 10q]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3711/chromosome-10q-deletion Chromosome 10q deletion]
 
* '''[[Monosomy 10q22.3q23.3]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13018/10q223q23-microdeletion-syndrome 10q22.3q23 microdeletion syndrome]
 
* '''[[Monosomy 11p]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1732/chromosome-11p-deletion Chromosome 11p deletion]
 
* '''[[Monosomy 11q]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1735/chromosome-11q-deletion Chromosome 11q deletion]
 
* '''[[Monosomy 12p]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6068/chromosome-12p-deletion Chromosome 12p deletion]
 
* '''[[Monosomy 12q]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10847/chromosome-12q-deletion Chromosome 12q deletion]
 
* '''[[Monosomy 12q14]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13390/12q14-microdeletion-syndrome 12q14 microdeletion syndrome]
 
* '''[[Monosomy 13q]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1738/chromosome-13q-deletion Chromosome 13q deletion]
 
* '''[[Monosomy 14q]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3722/chromosome-14q-deletion Chromosome 14q deletion]
 
* '''[[Monosomy 14q22q23]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2384/frias-syndrome Frias syndrome]
 
* '''[[Monosomy 14q22-q23]]'''
 
See [https://rarediseases.info.nih.gov/diseases/2384/frias-syndrome Frias syndrome]
 
* '''[[Monosomy 15q]]'''
 
See [https://rarediseases.info.nih.gov/diseases/1746/chromosome-15q-deletion Chromosome 15q deletion]
 
* '''[[Monosomy 15q11.2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10525/15q112-microdeletion 15q11.2 microdeletion]
 
* '''[[Monosomy 15q24]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12219/15q24-microdeletion-syndrome 15q24 microdeletion syndrome]
 
* '''[[Monosomy 16p]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10853/chromosome-16p-deletion Chromosome 16p deletion]
 
* '''[[Monosomy 16p11.2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10740/16p112-deletion-syndrome 16p11.2 deletion syndrome]
 
* '''[[Monosomy 16q]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10854/chromosome-16q-deletion Chromosome 16q deletion]
 
* '''[[Monosomy 16q24.3]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10935/16q243-microdeletion-syndrome 16q24.3 microdeletion syndrome]
 
* '''[[Monosomy 17p]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6075/chromosome-17p-deletion Chromosome 17p deletion]
 
* '''[[Monosomy 17q]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10972/chromosome-17q-deletion Chromosome 17q deletion]
 
* '''[[Monosomy 17q11]]'''
 
See [https://rarediseases.info.nih.gov/diseases/5408/chromosome-17q112-deletion-syndrome Chromosome 17q11.2 deletion syndrome]
 
* '''[[Monosomy 17q12]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13297/17q12-deletion-syndrome 17q12 deletion syndrome]
 
* '''[[Monosomy 17q21.31]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10727/koolen-de-vries-syndrome Koolen de Vries syndrome]
 
* '''[[Monosomy 17q23.1q23.2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10936/17q231q232-microdeletion-syndrome 17q23.1q23.2 microdeletion syndrome]
 
* '''[[Monosomy 17q23.1-q23.2]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10936/17q231q232-microdeletion-syndrome 17q23.1q23.2 microdeletion syndrome]
 
* '''[[Monosomy 18 mosaicism]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3726/mosaic-monosomy-18 Mosaic monosomy 18]
 
* '''[[Monosomy 18p]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8631/chromosome-18p-deletion Chromosome 18p deletion]
 
* '''[[Monosomy 18q syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10865/distal-chromosome-18q-deletion-syndrome Distal chromosome 18q deletion syndrome]
 
* '''[[Monosomy 18q syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10866/proximal-chromosome-18q-deletion-syndrome Proximal chromosome 18q deletion syndrome]
 
* '''[[Monosomy 19p]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10835/chromosome-19p-deletion Chromosome 19p deletion]
 
* '''[[Monosomy 19p13.12]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10991/19p1312-microdeletion-syndrome 19p13.12 microdeletion syndrome]
 
* '''[[Monosomy 19q]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10833/chromosome-19q-deletion Chromosome 19q deletion]
 
* '''[[Monosomy 1p]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3730/chromosome-1p-deletion Chromosome 1p deletion]
 
* '''[[Monosomy 1p36 syndrome]]'''
 
See [https://rarediseases.info.nih.gov/diseases/6082/chromosome-1p36-deletion-syndrome Chromosome 1p36 deletion syndrome]
 
* '''[[Monosomy 1q]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8669/chromosome-1q-deletion Chromosome 1q deletion]
 
* '''[[Monosomy 1q21.1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10813/1q211-microdeletion-syndrome 1q21.1 microdeletion syndrome]
 
* '''[[Monosomy 1q41-q42]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3738/chromosome-1q41-q42-deletion-syndrome Chromosome 1q41-q42 deletion syndrome]
 
* '''[[Monosomy 1q44]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10943/1q44-microdeletion-syndrome 1q44 microdeletion syndrome]
 
* '''[[Monosomy 20p]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3739/chromosome-20p-deletion Chromosome 20p deletion]
 
* '''[[Monosomy 20p12.3]]'''
 
See [https://rarediseases.info.nih.gov/diseases/12492/20p123-microdeletion-syndrome 20p12.3 microdeletion syndrome]
 
* '''[[Monosomy 20q]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10857/chromosome-20q-deletion Chromosome 20q deletion]
 
* '''[[Monosomy 21q]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10860/chromosome-21q-deletion Chromosome 21q deletion]
 
* '''[[Monosomy 22 mosaicism]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8320/mosaic-monosomy-22 Mosaic monosomy 22]
 
* '''[[Monosomy 22q]]'''
 
See [https://rarediseases.info.nih.gov/diseases/8668/chromosome-22q-deletion Chromosome 22q deletion]
 
* '''[[Monosomy 22q13]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10130/22q133-deletion-syndrome 22q13.3 deletion syndrome]
 
* '''[[Monosomy 22q13.3]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10130/22q133-deletion-syndrome 22q13.3 deletion syndrome]
 
* '''[[Monosomy 2p]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10836/chromosome-2p-deletion Chromosome 2p deletion]
 
* '''[[Monosomy 2p15p16.1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13391/2p15p161-microdeletion-syndrome 2p15p16.1 microdeletion syndrome]
 
* '''[[Monosomy 2p15-p16.1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13391/2p15p161-microdeletion-syndrome 2p15p16.1 microdeletion syndrome]
 
* '''[[Monosomy 2q]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3744/chromosome-2q-deletion Chromosome 2q deletion]
 
* '''[[Monosomy 2q23.1]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10998/2q231-microdeletion-syndrome 2q23.1 microdeletion syndrome]
 
* '''[[Monosomy 2q24]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3746/chromosome-2q24-microdeletion-syndrome Chromosome 2q24 microdeletion syndrome]
 
* '''[[Monosomy 2q32-q33]]'''
 
See [https://rarediseases.info.nih.gov/diseases/13206/satb2-associated-syndrome SATB2-associated syndrome]
 
* '''[[Monosomy 3p]]'''
 
See [https://rarediseases.info.nih.gov/diseases/37/chromosome-3p-deletion Chromosome 3p deletion]
 
* '''[[Monosomy 3pter]]'''
 
See [https://rarediseases.info.nih.gov/diseases/3750/chromosome-3p--syndrome Chromosome 3p- syndrome]
 
* '''[[Monosomy 3q]]'''
 
See [https://rarediseases.info.nih.gov/diseases/10838/chromosome-3q-deletion Chromosome 3q deletion]
 
* '''[[Monosomy 3q29]]'''
 
See [https://rarediseases.info.nih.gov/diseases/11974/3q29-microdeletion-syndrome 3q29 microdeletion syndrome]
 
* '''[[Monosomy 3qter]]'''</