Genetic diseases-H

• H-CK -- > Isolated hyperCKemia
• Haberland syndrome (formerly) -- > Encephalocraniocutaneous lipomatosis
• HAD deficiency -- > 3-hydroxyacyl-CoA dehydrogenase deficiency
• Haddad syndrome -- > Congenital central hypoventilation syndrome
• HADH deficiency -- > 3-hydroxyacyl-CoA dehydrogenase deficiency
• HADHSC deficiency -- > 3-hydroxyacyl-CoA dehydrogenase deficiency
• HAE -- > Hereditary angioedema
• haemochromatosis -- > Hereditary hemochromatosis
• haemophilia -- > Hemophilia
• haemophilia C -- > Factor XI deficiency
• Hailey-Hailey disease -- > Benign chronic pemphigus
• Hajdu-Cheney syndrome
• HAL deficiency -- > Histidinemia
• Hall-Hittner syndrome -- > CHARGE syndrome
• Hall-Pallister syndrome -- > Pallister-Hall syndrome
• Hallgren syndrome -- > Usher syndrome
• hallux abductovalgus -- > Bunion
• hallux duplication, postaxial polydactyly, and absence of corpus callosum -- > Acrocallosal syndrome
• hallux valgus -- > Bunion
• Hamel cerebropalatocardiac syndrome -- > Renpenning syndrome
• HANAC -- > Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
• HANAC syndrome -- > Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
• Hand-foot-genital syndrome
• Hand-foot-uterus syndrome -- > Hand-foot-genital syndrome
• HANE -- > Hereditary angioedema
• Hansen disease -- > Leprosy
• Hansen's disease -- > Leprosy
• Happle syndrome -- > X-linked chondrodysplasia punctata 2
• HARD syndrome -- > Walker-Warburg syndrome
• Harlequin baby syndrome -- > Harlequin ichthyosis
• Harlequin ichthyosis
• Hartnup disease
• Hartnup disorder -- > Hartnup disease
• Hartnup's disease -- > Hartnup disease
• Hartsfield syndrome
• Hartsfield-Bixler-Demyer syndrome -- > Hartsfield syndrome
• Hashimoto disease -- > Hashimoto thyroiditis
• Hashimoto struma -- > Hashimoto thyroiditis
• Hashimoto syndrome -- > Hashimoto thyroiditis
• Hashimoto thyroiditis
• Hashimoto's disease -- > Hashimoto thyroiditis
• Hashimoto-Pritzger disease -- > Langerhans cell histiocytosis
• HAV -- > Bunion
• Haw River syndrome -- > Dentatorubral-pallidoluysian atrophy
• Hay-Wells syndrome -- > Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
• HBBD -- > Progressive familial heart block
• HbS disease -- > Sickle cell disease
• HBSL -- > Hypomyelination with brainstem and spinal cord involvement and leg spasticity
• HC -- > Hereditary hemochromatosis
• HCAHC -- > Pol III-related leukodystrophy
• HCC -- > Hypomyelination and congenital cataract
• HCH -- > Hypochondroplasia
• HCHWA -- > Hereditary cerebral amyloid angiopathy
• HCM -- > Familial hypertrophic cardiomyopathy
• HDDD1 -- > GRN-related frontotemporal dementia
• HDDD2 -- > GRN-related frontotemporal dementia
• HDGC -- > Hereditary diffuse gastric cancer
• HDL deficiency, type 2 -- > Familial HDL deficiency
• HDL Lipoprotein Deficiency Disease -- > Tangier disease
• HDLD -- > Familial HDL deficiency
• Head and neck squamous cell carcinoma
• headache migraine -- > Migraine
• headache migrainous -- > Migraine
• hearing loss, age-related -- > Age-related hearing loss
• heart-hand syndrome, type 1 -- > Holt-Oram syndrome
• HED -- > Hypohidrotic ectodermal dysplasia
• HED-ID -- > Anhidrotic ectodermal dysplasia with immune deficiency
• HED2 -- > Clouston syndrome
• Helsmoortel-van der Aa syndrome -- > ADNP syndrome
• HEM dysplasia -- > Greenberg dysplasia
• HEM skeletal dysplasia -- > Greenberg dysplasia
• hemangiomata with dyschondroplasia -- > Maffucci syndrome
• hemangiomatosis chondrodystrophica -- > Maffucci syndrome
• hemangiomatous branchial clefts-lip pseudocleft syndrome -- > Branchio-oculo-facial syndrome
• Hematoporphyria -- > Porphyria
• hematuria-nephropathy-deafness syndrome -- > Alport syndrome
• hematuric hereditary nephritis -- > Alport syndrome
• hemifacial microsomia -- > Craniofacial microsomia
• hemiplegic migraine, familial -- > Familial hemiplegic migraine
• hemiplegic-ophthalmoplegic migraine -- > Familial hemiplegic migraine
• hemochromatosis -- > Hereditary hemochromatosis
• hemoglobin M disease -- > Methemoglobinemia, beta-globin type
• Hemoglobin S Disease -- > Sickle cell disease
• Hemoglobinuria, Paroxysmal -- > Paroxysmal nocturnal hemoglobinuria
• hemophagocytic syndrome -- > Familial hemophagocytic lymphohistiocytosis
• Hemophilia
• hemophilia C -- > Factor XI deficiency
• hemophilia, familial -- > Hemophilia
• Hemophilia, familial -- > Hemophilia
• hemophilia, hereditary -- > Hemophilia
• Hemophilia, hereditary -- > Hemophilia
• hemorrhagic familial nephritis -- > Alport syndrome
• hemorrhagic hereditary nephritis -- > Alport syndrome
• hemorrhagioparous thrombocytic dystrophy -- > Bernard-Soulier syndrome
• Hennekam lymphangiectasia-lymphedema syndrome -- > Hennekam syndrome
• Hennekam syndrome
• hepatic AGT deficiency -- > Primary hyperoxaluria
• hepatic ductular hypoplasia -- > Alagille syndrome
• hepatic glycogen phosphorylase deficiency -- > Glycogen storage disease type VI
• Hepatic lipase deficiency
• Hepatic methionine adenosyltransferase deficiency -- > Hypermethioninemia
• Hepatic veno-occlusive disease with immunodeficiency
• hepatic venoocclusive disease with immunodeficiency -- > Hepatic veno-occlusive disease with immunodeficiency
• hepatocerebral mitochondrial DNA depletion syndrome -- > Deoxyguanosine kinase deficiency
• hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 -- > Combined oxidative phosphorylation deficiency 1
• hepatofacioneurocardiovertebral syndrome -- > Alagille syndrome
• hepatolenticular degeneration syndrome -- > Wilson disease
• hepatorenal form of glycogen storage disease -- > Glycogen storage disease type I
• hepatorenal glycogenosis -- > Glycogen storage disease type I
• hereditary aldosteronism -- > Familial hyperaldosteronism
• Hereditary angioedema
• hereditary angioneurotic edema -- > Hereditary angioedema
• hereditary angiopathy with nephropathy, aneurysm, and muscle cramps syndrome -- > Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
• Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
• Hereditary antithrombin deficiency
• hereditary arthro-ophthalmo-dystrophy -- > Stickler syndrome
• hereditary arthro-ophthalmopathy -- > Stickler syndrome
• hereditary brachial plexus neuropathy -- > Hereditary neuralgic amyotrophy
• hereditary bundle branch defect -- > Progressive familial heart block
• hereditary bundle branch system defect -- > Progressive familial heart block
• Hereditary cerebral amyloid angiopathy
• hereditary ceruloplasmin deficiency -- > Aceruloplasminemia
• hereditary chronic pancreatitis -- > Hereditary pancreatitis
• hereditary cranium bifidum -- > Enlarged parietal foramina
• hereditary dementia, multi-infarct type -- > Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
• hereditary desmoid disease -- > Desmoid tumor
• hereditary diffuse gastric adenocarcinoma -- > Hereditary diffuse gastric cancer
• Hereditary diffuse gastric cancer
• hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia -- > Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
• hereditary dysphasic disinhibition dementia -- > GRN-related frontotemporal dementia
• hereditary dystopic lipidosis -- > Fabry disease
• hereditary epithelial dysplasia of retina -- > Leber congenital amaurosis
• hereditary erythrocytosis -- > Familial erythrocytosis
• hereditary essential tremor -- > Essential tremor
• hereditary factor I deficiency disease -- > Complement factor I deficiency
• hereditary familial congenital hemorrhagic nephritis -- > Alport syndrome
• hereditary ferritinopathy -- > Neuroferritinopathy
• Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
• Hereditary folate malabsorption
• Hereditary fructose intolerance
• hereditary glaucoma -- > Early-onset glaucoma
• hereditary gynecomastia -- > Aromatase excess syndrome
• hereditary haemochromatosis -- > Hereditary hemochromatosis
• hereditary hematuria syndrome -- > Alport syndrome
• Hereditary hemochromatosis
• Hereditary hemorrhagic telangiectasia
• hereditary hemorrhagic thrombasthenia -- > Glanzmann thrombasthenia
• Hereditary hyperekplexia
• hereditary hyperferritinemia with congenital cataracts -- > Hyperferritinemia-cataract syndrome
• hereditary hyperferritinemia-cataract syndrome -- > Hyperferritinemia-cataract syndrome
• hereditary hyperparathyroidism-jaw tumor syndrome -- > Hyperparathyroidism-jaw tumor syndrome
• Hereditary hypophosphatemic rickets
• Hereditary inclusion body myopathy -- > Inclusion body myopathy 2
• hereditary insensitivity to pain with anhidrosis -- > Congenital insensitivity to pain with anhidrosis
• hereditary interstitial pyelonephritis -- > Alport syndrome
• Hereditary iron-loading anemia -- > X-linked sideroblastic anemia
• Hereditary leiomyomatosis and renal cell cancer
• hereditary leiomyomatosis and renal cell carcinoma -- > Hereditary leiomyomatosis and renal cell cancer
• hereditary leukokeratosis -- > White sponge nevus
• hereditary lymphedema II -- > Meige disease
• hereditary lymphedema type I -- > Milroy disease
• hereditary motor and sensory neuropathy -- > Hereditary neuropathy with liability to pressure palsies
• hereditary motor and sensory neuropathy -- > Charcot-Marie-Tooth disease
• hereditary motor and sensory neuropathy Type IV -- > Refsum disease
• hereditary motor and sensory neuropathy with agenesis of the corpus callosum -- > Andermann syndrome
• hereditary mucosal leukokeratosis -- > White sponge nevus
• hereditary multicentric osteolysis -- > Multicentric osteolysis, nodulosis, and arthropathy
• hereditary multiple benign cystic epithelioma -- > Multiple familial trichoepithelioma
• hereditary multiple exostoses -- > Hereditary multiple osteochondromas
• Hereditary multiple osteochondromas
• hereditary myoclonus with progressive distal muscular atrophy -- > Spinal muscular atrophy with progressive myoclonic epilepsy
• Hereditary myopathy with early respiratory failure
• hereditary myopathy with lactic acidosis -- > Myopathy with deficiency of iron-sulfur cluster assembly enzyme
• hereditary nephritis -- > Alport syndrome
• Hereditary neuralgic amyotrophy
• Hereditary neuropathy with liability to pressure palsies
• hereditary nonpolyposis colorectal cancer -- > Lynch syndrome
• hereditary nonpolyposis colorectal neoplasms -- > Lynch syndrome
• hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency -- > Triosephosphate isomerase deficiency
• hereditary oligophrenic cerebello-lental degeneration -- > Marinesco-Sjögren syndrome
• hereditary onycho-osteodysplasia -- > Nail-patella syndrome
• hereditary opalescent dentin -- > Dentinogenesis imperfecta
• hereditary optic neuroretinopathy -- > Leber hereditary optic neuropathy
• hereditary oral keratosis -- > White sponge nevus
• hereditary osteo-onychodysplasia -- > Nail-patella syndrome
• hereditary osteodysplasia with acro-osteolysis -- > Hajdu-Cheney syndrome
• Hereditary pancreatitis
• Hereditary paraganglioma-pheochromocytoma
• hereditary paraganglioma-pheochromocytoma syndromes -- > Hereditary paraganglioma-pheochromocytoma
• hereditary pheochromocytoma-paraganglioma -- > Hereditary paraganglioma-pheochromocytoma
• hereditary pressure sensitive neuropathy -- > Hereditary neuropathy with liability to pressure palsies
• hereditary progressive dystonia with marked diurnal fluctuation -- > Dopa-responsive dystonia
• hereditary pulmonary emphysema -- > Alpha-1 antitrypsin deficiency
• hereditary renal hypouricemia -- > Renal hypouricemia
• Hereditary resistance to activated protein C -- > Factor V Leiden thrombophilia
• hereditary retinal aplasia -- > Leber congenital amaurosis
• hereditary sclerosing poikiloderma with tendon and pulmonary involvement -- > Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
• hereditary sensory and autonomic neuropathy type 1 with dementia and hearing loss -- > Hereditary sensory and autonomic neuropathy type IE
• hereditary sensory and autonomic neuropathy type 2 -- > Hereditary sensory and autonomic neuropathy type II
• Hereditary sensory and autonomic neuropathy type IE
• Hereditary sensory and autonomic neuropathy type II
• hereditary sensory and autonomic neuropathy type IV -- > Congenital insensitivity to pain with anhidrosis
• Hereditary sensory and autonomic neuropathy type V
• hereditary sensory and autonomic neuropathy, type 4 -- > Congenital insensitivity to pain with anhidrosis
• hereditary sensory and autonomic neuropathy, type 5 -- > Hereditary sensory and autonomic neuropathy type V
• hereditary sensory and autonomic neuropathy, type IA -- > Hereditary sensory neuropathy type IA
• Hereditary sensory neuropathy type IA
• hereditary sensory neuropathy type IE -- > Hereditary sensory and autonomic neuropathy type IE
• Hereditary Spastic Paraplegia -- > Troyer syndrome
• Hereditary Spastic Paraplegia -- > Spastic paraplegia type 7
• hereditary spastic paraplegia 8 -- > Spastic paraplegia type 8
• hereditary spastic paraplegia, paraplegin type -- > Spastic paraplegia type 7
• Hereditary spherocytosis
• hereditary SWI/SNF deficiency syndrome -- > Rhabdoid tumor predisposition syndrome
• hereditary syndrome of lumpy scalp, odd ears, and rudimentary nipples -- > Scalp-ear-nipple syndrome
• hereditary thrombasthenia -- > Glanzmann thrombasthenia
• hereditary thrombophilia due to protein C deficiency -- > Protein C deficiency
• hereditary thrombophilia due to protein S deficiency -- > Protein S deficiency
• hereditary thymine-uraciluria -- > Dihydropyrimidine dehydrogenase deficiency
• hereditary tyrosinemia -- > Tyrosinemia
• hereditary unconjugated hyperbilirubinemia -- > Crigler-Najjar syndrome
• hereditary unresponsiveness to adrenocorticotropic hormone -- > Familial glucocorticoid deficiency
• hereditary ventricular hypertrophy -- > Familial hypertrophic cardiomyopathy
• Hereditary X-linked Recessive Spastic Paraplegia -- > Spastic paraplegia type 2
• Hereditary xanthinuria
• heredofamilial neuritis with brachial plexus predilection -- > Hereditary neuralgic amyotrophy
• heredopathia atactica polyneuritiformis -- > Refsum disease
• heredoretinopathia congenitalis -- > Leber congenital amaurosis
• heritable hypertrophic cardiomyopathy -- > Familial hypertrophic cardiomyopathy
• Hermansky-Pudlak syndrome
• hernia, abdominal -- > Abdominal wall defect
• herpes zoster -- > Shingles
• Hers disease -- > Glycogen storage disease type VI
• heterotaxy -- > Heterotaxy syndrome
• Heterotaxy syndrome
• heterotopia, subcortical band -- > Subcortical band heterotopia
• heterotopic ossification -- > Progressive osseous heteroplasia
• heterozygous OSMED -- > Weissenbacher-Zweymüller syndrome
• heterozygous otospondylomegaepiphyseal dysplasia -- > Weissenbacher-Zweymüller syndrome
• HexA deficiency -- > Tay-Sachs disease
• Hexosaminidase A and B Deficiency Disease -- > Sandhoff disease
• Hexosaminidase A deficiency -- > Tay-Sachs disease
• Hexosaminidase activator deficiency -- > GM2-gangliosidosis, AB variant
• Hexosaminidase alpha-subunit deficiency (variant B) -- > Tay-Sachs disease
• HFG syndrome -- > Hand-foot-genital syndrome
• HFGS -- > Hand-foot-genital syndrome
• HFM -- > Craniofacial microsomia
• HFP -- > Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
• HFTC -- > Hyperphosphatemic familial tumoral calcinosis
• HFU syndrome -- > Hand-foot-genital syndrome
• HGPPS -- > Horizontal gaze palsy with progressive scoliosis
• HGPRT deficiency -- > Lesch-Nyhan syndrome
• HGPS -- > Hutchinson-Gilford progeria syndrome
• HH -- > Hereditary hemochromatosis
• HHCS -- > Hyperferritinemia-cataract syndrome
• HHES -- > Hartsfield syndrome
• HHH syndrome -- > Ornithine translocase deficiency
• HHT -- > Hereditary hemorrhagic telangiectasia
• HI -- > Harlequin ichthyosis
• HIBM -- > Inclusion body myopathy 2
• HID syndrome -- > Hystrix-like ichthyosis with deafness
• hidradenitides, suppurative -- > Hidradenitis suppurativa
• Hidradenitis suppurativa
• hidradenitis, suppurative -- > Hidradenitis suppurativa
• hidrotic ectodermal dysplasia 2 -- > Clouston syndrome
• high blood pressure -- > Hypertension
• high myopia and sensorineural deafness -- > Deafness and myopia syndrome
• high myopia-sensorineural deafness syndrome -- > Deafness and myopia syndrome
• HIGM1 -- > X-linked hyper IgM syndrome
• Hippel-Lindau disease -- > Von Hippel-Lindau syndrome
• Hirschsprung disease
• Hirschsprung disease-mental retardation syndrome -- > Mowat-Wilson syndrome
• Hirschsprung's disease -- > Hirschsprung disease
• HIS deficiency -- > Histidinemia
• histidase deficiency -- > Histidinemia
• histidine ammonia-lyase deficiency -- > Histidinemia
• Histidinemia
• histiocytic medullary reticulosis -- > Omenn syndrome
• histiocytosis X -- > Langerhans cell histiocytosis
• Histiocytosis-lymphadenopathy plus syndrome
• HIVEP2-related intellectual disability
• HJCYS -- > Hajdu-Cheney syndrome
• HL deficiency -- > Hepatic lipase deficiency
• HLA class I deficiency -- > Bare lymphocyte syndrome type I
• HLAH -- > Hereditary hemochromatosis
• HLCS deficiency -- > Holocarboxylase synthetase deficiency
• HLD1 -- > Pelizaeus-Merzbacher disease
• HLD2 -- > Pelizaeus-Merzbacher-like disease type 1
• HLD7 -- > Pol III-related leukodystrophy
• HLD8 -- > Pol III-related leukodystrophy
• HLRCC -- > Hereditary leiomyomatosis and renal cell cancer
• HMCS -- > McKusick-Kaufman syndrome
• HMERF -- > Hereditary myopathy with early respiratory failure
• HMG -- > 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
• HMG-CoA lyase deficiency -- > 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
• HML -- > Myopathy with deficiency of iron-sulfur cluster assembly enzyme
• HMN V -- > Distal hereditary motor neuropathy, type V
• HMN6 -- > Spinal muscular atrophy with respiratory distress type 1
• HMNDYT -- > Hypermanganesemia with dystonia
• HMNVI -- > Spinal muscular atrophy with respiratory distress type 1
• HMSN -- > Charcot-Marie-Tooth disease
• HMSN IV -- > Refsum disease
• HMSN type IV -- > Refsum disease
• HMSN/ACC -- > Andermann syndrome
• HNA -- > Hereditary neuralgic amyotrophy
• HNPCC -- > Lynch syndrome
• HNPP -- > Hereditary neuropathy with liability to pressure palsies
• HNSCC -- > Head and neck squamous cell carcinoma
• HOGA -- > Gyrate atrophy of the choroid and retina
• HOKPP -- > Hypokalemic periodic paralysis
• Holocarboxylase synthetase deficiency
• holoprosencephaly and split hand/foot syndrome -- > Hartsfield syndrome
• holoprosencephaly sequence -- > Nonsyndromic holoprosencephaly
• holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate -- > Hartsfield syndrome
• holoprosencephaly, hypertelorism, and ectrodactyly syndrome -- > Hartsfield syndrome
• Holt-Oram syndrome
• HOMG -- > Hypomagnesemia with secondary hypocalcemia
• homocysteinemia -- > Homocystinuria
• Homocystinuria
• homogentisic acid oxidase deficiency -- > Alkaptonuria
• homogentisic acidura -- > Alkaptonuria
• homozygous PAI-1 deficiency -- > Complete plasminogen activator inhibitor 1 deficiency
• honeycomb myocardium -- > Left ventricular noncompaction
• Horizontal gaze palsy with progressive scoliosis
• Horner syndrome
• Horner's syndrome -- > Horner syndrome
• Hornstein-Birt-Hogg-Dubé syndrome -- > Birt-Hogg-Dubé syndrome
• Hornstein-Knickenberg syndrome -- > Birt-Hogg-Dubé syndrome
• HOS -- > Holt-Oram syndrome
• HP -- > Hereditary pancreatitis
• HPLH -- > Familial hemophagocytic lymphohistiocytosis
• HPS -- > Hermansky-Pudlak syndrome
• HPT-JT -- > Hyperparathyroidism-jaw tumor syndrome
• HS -- > Hereditary spherocytosis
• HSAN IA -- > Hereditary sensory neuropathy type IA
• HSAN type II -- > Hereditary sensory and autonomic neuropathy type II
• HSAN Type III -- > Familial dysautonomia
• HSAN type IV -- > Congenital insensitivity to pain with anhidrosis
• HSAN type V -- > Hereditary sensory and autonomic neuropathy type V
• HSAN V -- > Hereditary sensory and autonomic neuropathy type V
• HSAN1A -- > Hereditary sensory neuropathy type IA
• HSAN1E -- > Hereditary sensory and autonomic neuropathy type IE
• HSAN2 -- > Hereditary sensory and autonomic neuropathy type II
• HSAN2A -- > Hereditary sensory and autonomic neuropathy type II
• HSAN2B -- > Hereditary sensory and autonomic neuropathy type II
• HSAN2C -- > Hereditary sensory and autonomic neuropathy type II
• HSAN2D -- > Hereditary sensory and autonomic neuropathy type II
• HSAN3 -- > Familial dysautonomia
• HSAN4 -- > Congenital insensitivity to pain with anhidrosis
• HSAN5 -- > Hereditary sensory and autonomic neuropathy type V
• HSANII -- > Hereditary sensory and autonomic neuropathy type II
• HSCR -- > Hirschsprung disease
• HSD10 deficiency -- > HSD10 disease
• HSD10 disease
• HSH -- > Hypomagnesemia with secondary hypocalcemia
• HSN IA -- > Hereditary sensory neuropathy type IA
• HSN IE -- > Hereditary sensory and autonomic neuropathy type IE
• HSN type II -- > Hereditary sensory and autonomic neuropathy type II
• HSN-III -- > Familial dysautonomia
• HSN1A -- > Hereditary sensory neuropathy type IA
• HSNIE -- > Hereditary sensory and autonomic neuropathy type IE
• HSP-TCC -- > Spastic paraplegia type 11
• HTL -- > Autosomal recessive hypotrichosis
• HTX -- > Heterotaxy syndrome
• Hughes syndrome -- > Antiphospholipid syndrome
• humero-spinal dysostosis -- > CHST3-related skeletal dysplasia
• Hunter Syndrome -- > Mucopolysaccharidosis type II
• Huntington chorea -- > Huntington disease
• Huntington chronic progressive hereditary chorea -- > Huntington disease
• Huntington disease
• Huntington disease-like syndrome
• Huntington disease-like syndromes -- > Huntington disease-like syndrome
• Huntington's chorea -- > Huntington disease
• Huntington's disease -- > Huntington disease
• Huntington's disease phenocopies -- > Huntington disease-like syndrome
• Huntington's disease phenocopy syndromes -- > Huntington disease-like syndrome
• Huntington's disease-like syndromes -- > Huntington disease-like syndrome
• Hurler syndrome -- > Mucopolysaccharidosis type I
• Hurler-Scheie syndrome -- > Mucopolysaccharidosis type I
• Hutchinson-Gilford progeria syndrome
• Hutchinson-Gilford syndrome -- > Hutchinson-Gilford progeria syndrome
• Hutterite syndrome -- > Bowen-Conradi syndrome
• HV -- > Bunion
• HVDAS -- > ADNP syndrome
• Hyaline fibromatosis syndrome
• hyalinosis cutis et mucosae -- > Lipoid proteinosis
• hyaloideoretinal degeneration of Wagner -- > Wagner syndrome
• hydrocephalus, agyria, and retinal dysplasia -- > Walker-Warburg syndrome
• hydrocephalus, internal, Dandy-Walker type -- > Dandy-Walker malformation
• hydrocephalus, noncommunicating, Dandy-Walker type -- > Dandy-Walker malformation
• Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation -- > McKusick-Kaufman syndrome
• hydronephrosis with peculiar facial expression -- > Ochoa syndrome
• hydronephrosis-inverted smile -- > Ochoa syndrome
• hydrops - ectopic calcification - moth-eaten skeletal dysplasia -- > Greenberg dysplasia
• hydroxyacyl-CoA dehydrogenase II deficiency -- > HSD10 disease
• Hydroxymethylglutaric aciduria -- > 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
• hyper IgD syndrome -- > Mevalonate kinase deficiency
• hyper IgE recurrent infection syndrome, autosomal recessive -- > DOCK8 immunodeficiency syndrome
• hyper immunoglobulin E syndrome, autosomal recessive -- > DOCK8 immunodeficiency syndrome
• hyper-IgM immunodeficiency with hypohidrotic ectodermal dysplasia -- > Anhidrotic ectodermal dysplasia with immune deficiency
• Hyper-IgM syndrome 1 -- > X-linked hyper IgM syndrome
• hyperaldosteronism, familial -- > Familial hyperaldosteronism
• hyperammonemia due to carbonic anhydrase VA deficiency -- > Carbonic anhydrase VA deficiency
• hyperammonemia, type III -- > N-acetylglutamate synthase deficiency
• hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency -- > Carbonic anhydrase VA deficiency
• Hyperargininemia -- > Arginase deficiency
• hyperbilirubinemia 1 -- > Gilbert syndrome
• hyperbilirubinemia II -- > Dubin-Johnson syndrome
• hyperbilirubinemia, Dubin-Johnson type -- > Dubin-Johnson syndrome
• hyperbilirubinemia, Rotor type -- > Rotor syndrome
• hypercalcemia-supravalvar aortic stenosis -- > Williams syndrome
• Hypercholesterolemia
• hypercortisolism -- > Cushing disease
• Hyperdibasic aminoaciduria -- > Lysinuric protein intolerance
• hyperekplexia -- > Hereditary hyperekplexia
• Hyperferritinemia-cataract syndrome
• hyperfibrinolysis due to PAI1 deficiency -- > Complete plasminogen activator inhibitor 1 deficiency
• hyperglycinemia with ketoacidosis and leukopenia -- > Propionic acidemia
• Hyperglycinemia, Nonketotic -- > Glycine encephalopathy
• hyperhistidinemia -- > Histidinemia
• hyperimidodipeptiduria -- > Prolidase deficiency
• hyperimmunoglobulin D with periodic fever -- > Mevalonate kinase deficiency
• hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive -- > DOCK8 immunodeficiency syndrome
• hyperimmunoglobulin E syndrome type 2 -- > DOCK8 immunodeficiency syndrome
• hyperimmunoglobulinemia D -- > Mevalonate kinase deficiency
• hyperinsulinemia hypoglycemia of infancy -- > Congenital hyperinsulinism
• Hyperkalemic periodic paralysis
• hyperkeratosis, epidermolytic -- > Epidermolytic hyperkeratosis
• hyperkinetic disorder -- > Attention-deficit/hyperactivity disorder
• hyperkinetic syndrome -- > Attention-deficit/hyperactivity disorder
• hyperKPP -- > Hyperkalemic periodic paralysis
• hyperlipidemia due to hepatic triglyceride lipase deficiency -- > Hepatic lipase deficiency
• hyperlipoproteinemia type I -- > Familial lipoprotein lipase deficiency
• hyperlipoproteinemia type Ia -- > Familial lipoprotein lipase deficiency
• Hyperlysinemia
• Hypermanganesemia with dystonia
• Hypermethioninemia
• hypermetropia -- > Farsightedness
• hyperopia -- > Farsightedness
• hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome -- > Ornithine translocase deficiency
• hyperornithinemia with gyrate atrophy of choroid and retina -- > Gyrate atrophy of the choroid and retina
• hyperornithinemia-hyperammonemia-homocitrullinemia syndrome -- > Ornithine translocase deficiency
• hyperornithinemia-hyperammonemia-homocitrullinuria syndrome -- > Ornithine translocase deficiency
• hyperostosis corticalis deformans juvenilis -- > Juvenile Paget disease
• hyperostosis corticalis generalisata -- > SOST-related sclerosing bone dysplasia
• hyperostosis, monomelic -- > Melorheostosis
• hyperotosis corticalis generalisata familiaris -- > SOST-related sclerosing bone dysplasia
• hyperoxaluria, primary -- > Primary hyperoxaluria
• hyperparathyroidism 1 -- > Familial isolated hyperparathyroidism
• hyperparathyroidism 2 -- > Hyperparathyroidism-jaw tumor syndrome
• Hyperparathyroidism-jaw tumor syndrome
• hyperphenylalaninemia caused by a defect in biopterin metabolism -- > Tetrahydrobiopterin deficiency
• hyperphenylalaninemia, non-phenylketonuric -- > Tetrahydrobiopterin deficiency
• hyperphosphatasemia tarda -- > SOST-related sclerosing bone dysplasia
• hyperphosphatasemia with bone disease -- > Juvenile Paget disease
• hyperphosphatasia with mental retardation syndrome -- > Mabry syndrome
• hyperphosphatasia with seizures and neurologic deficit -- > Mabry syndrome
• hyperphosphatasia, familial idiopathic -- > Juvenile Paget disease
• hyperphosphatemia hyperostosis -- > Hyperphosphatemic familial tumoral calcinosis
• hyperphosphatemia hyperostosis syndrome -- > Hyperphosphatemic familial tumoral calcinosis
• hyperphosphatemia tumoral calcinosis -- > Hyperphosphatemic familial tumoral calcinosis
• Hyperphosphatemic familial tumoral calcinosis
• hyperPP -- > Hyperkalemic periodic paralysis
• Hyperprolinemia
• hyperprothrombinemia -- > Prothrombin thrombophilia
• Hyperpyrexia, Malignant -- > Malignant hyperthermia
• hypertelorism with esophageal abnormalities and hypospadias -- > Opitz G/BBB syndrome
• hypertelorism-hypospadias sydrome -- > Opitz G/BBB syndrome
• Hypertension
• Hyperthermia, Malignant -- > Malignant hyperthermia
• hypertrabeculation syndrome -- > Left ventricular noncompaction
• hypertrichosis-osteochondrodysplasia-cardiomegaly syndrome -- > Cantú syndrome
• hypertrichotic osteochondrodysplasia -- > Cantú syndrome
• hypertrophic arthritis -- > Osteoarthritis
• hypertyrosinaemia -- > Tyrosinemia
• hypertyrosinemia -- > Tyrosinemia
• hypobetalipoproteinemia -- > Familial hypobetalipoproteinemia
• hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells -- > Chylomicron retention disease
• hypoceruloplasminemia -- > Aceruloplasminemia
• Hypochondrodysplasia -- > Hypochondroplasia
• Hypochondrogenesis
• Hypochondroplasia
• Hypochromic microcytic anemia with iron overload
• Hypocupremia, Congenital -- > Menkes syndrome
• hypogammaglobulinemia -- > X-linked agammaglobulinemia
• hypoglycemia with deficiency of glycogen synthetase -- > Glycogen storage disease type 0
• hypogonadism with anosmia -- > Kallmann syndrome
• hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome -- > Woodhouse-Sakati syndrome
• hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome -- > Woodhouse-Sakati syndrome
• hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities -- > Woodhouse-Sakati syndrome
• hypogonadotropic hypogonadism and anosmia -- > Kallmann syndrome
• hypogonadotropic hypogonadism-anosmia syndrome -- > Kallmann syndrome
• Hypohidrotic ectodermal dysplasia
• hypohidrotic ectodermal dysplasia with immune deficiency -- > Anhidrotic ectodermal dysplasia with immune deficiency
• hypokalemia-hypomagnesemia, primary renotubular, with hypocalciuria -- > Gitelman syndrome
• Hypokalemic periodic paralysis
• HypoKPP -- > Hypokalemic periodic paralysis
• hypolactasia -- > Lactose intolerance
• Hypomagnesemia with secondary hypocalcemia
• hypomagnesemic tetany -- > Hypomagnesemia with secondary hypocalcemia
• hypomelia hypotrichosis facial hemangioma syndrome -- > Roberts syndrome
• hypomyelinating leukodystrophy 2 -- > Pelizaeus-Merzbacher-like disease type 1
• hypomyelinating leukodystrophy, 1 -- > Pelizaeus-Merzbacher disease
• Hypomyelination and congenital cataract
• hypomyelination with brain stem and spinal cord involvement and leg spasticity -- > Hypomyelination with brainstem and spinal cord involvement and leg spasticity
• Hypomyelination with brainstem and spinal cord involvement and leg spasticity
• hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum -- > Pol III-related leukodystrophy
• hypomyelination, hypodontia, hypogonadotropic hypogonadism -- > Pol III-related leukodystrophy
• hyponychia congenita -- > Anonychia congenita
• Hypophosphatasia
• hypophosphatemia -- > Hereditary hypophosphatemic rickets
• hypopigmentation immunodeficiency disease -- > Griscelli syndrome
• hypopigmentation-deafness syndrome -- > Tietz syndrome
• hypopigmentation/deafness of Tietz -- > Tietz syndrome
• hypoplasia of spleen -- > Isolated congenital asplenia
• hypoplasminogenemia -- > Congenital plasminogen deficiency
• hypoplastic congenital anemia -- > Diamond-Blackfan anemia
• HypoPP -- > Hypokalemic periodic paralysis
• hypoproconvertinemia -- > Factor VII deficiency
• hypoprothrombinemia -- > Prothrombin deficiency
• hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome -- > Bosma arhinia microphthalmia syndrome
• hypospadias-dysphagia syndrome -- > Opitz G/BBB syndrome
• hyposplenia, isolated congenital -- > Isolated congenital asplenia
• hypotension, orthostatic -- > Orthostatic hypotension
• hypotension, postural -- > Orthostatic hypotension
• hypotonia, obesity, and prominent incisors -- > Cohen syndrome
• hypotrichoses -- > Autosomal recessive hypotrichosis
• hypotrichosis -- > Autosomal recessive hypotrichosis
• hypoxanthine guanine phosphoribosyltransferase deficiency -- > Lesch-Nyhan syndrome
• hypoxanthine phosphoribosyltransferase deficiency -- > Lesch-Nyhan syndrome
• Hystrix-like ichthyosis with deafness