Genetic diseases-I

• I-cell disease see Mucolipidosis II alpha/beta
• I2S deficiency see Mucopolysaccharidosis type II
• IAHSP see Infantile-onset ascending hereditary spastic paralysis
• IBD deficiency see Isobutyryl-CoA dehydrogenase deficiency
• IBIDS see Trichothiodystrophy
• IBM2 see Inclusion body myopathy 2
• IBMPFD see Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
• ICAS see Isolated congenital asplenia
• ichthyoses, lamellar see Lamellar ichthyosis
• ichthyosiform erythroderma with hypotrichosis and hyper-IgE see Netherton syndrome
• ichthyosiform erythroderma, corneal involvement, and deafness see Keratitis-ichthyosis-deafness syndrome
• Ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs see Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
• Ichthyosis Congenita, Harlequin Fetus Type see Harlequin ichthyosis
• ichthyosis linearis circumflexa see Netherton syndrome
• ichthyosis oligophrenia syndrome see Sjögren-Larsson syndrome
• ichthyosis variegata see Ichthyosis with confetti
• Ichthyosis with confetti
• ichthyosis, hystrix-like, with deafness see Hystrix-like ichthyosis with deafness
• ichthyosis, lamellar see Lamellar ichthyosis
• Ichthyotic neutral lipid storage disease see Chanarin-Dorfman syndrome
• IDD see Intervertebral disc disease
• IDDM see Type 1 diabetes
• IDDM-secretory diarrhea syndrome see Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
• idic(15) see 15q11-q13 duplication syndrome
• idiopathic fibrosing alveolitis, chronic form see Idiopathic pulmonary fibrosis
• idiopathic hyperCKemia see Isolated hyperCKemia
• idiopathic hyperphosphatasia see Juvenile Paget disease
• idiopathic hypertrophic subaortic stenosis see Familial hypertrophic cardiomyopathy
• idiopathic infantile arterial calcification see Generalized arterial calcification of infancy
• Idiopathic infantile hypercalcemia
• idiopathic infantile nystagmus see X-linked infantile nystagmus
• idiopathic inflammatory myopathies see Idiopathic inflammatory myopathy
• Idiopathic inflammatory myopathy
• idiopathic inflammatory myositis see Idiopathic inflammatory myopathy
• idiopathic juvenile osteoporosis see Juvenile primary osteoporosis
• idiopathic myelofibrosis see Primary myelofibrosis
• idiopathic obliterative arteriopathy see Generalized arterial calcification of infancy
• idiopathic persistent elevation of serum creatine kinase see Isolated hyperCKemia
• idiopathic proctocolitis see Ulcerative colitis
• Idiopathic pulmonary fibrosis
• idiopathic pulmonary hypertension see Pulmonary arterial hypertension
• idiopathic thrombocytopenic purpura see Immune thrombocytopenia
• idiopathic torsion dystonia of mixed type see Dystonia 6
• idiopathic ventricular fibrillation, Brugada type see Brugada syndrome
• IDUA deficiency see Mucopolysaccharidosis type I
• Iduronate 2-sulfatase deficiency see Mucopolysaccharidosis type II
• IFIH1 deficiency see MDA5 deficiency
• IHPRF2 see UNC80 deficiency
• IIAC see Generalized arterial calcification of infancy
• IIAE3 see Acute necrotizing encephalopathy type 1
• IIH see Idiopathic infantile hypercalcemia
• IL2RG SCID, T- B+ NK- see X-linked severe combined immunodeficiency
• ILC see Netherton syndrome
• ILS see Isolated lissencephaly sequence
• IMAGe anomaly see Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
• IMAGe association see Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
• IMAGe syndrome see Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
• IMD2 see Wiskott-Aldrich syndrome
• Imerslund-Grasbeck syndrome see Imerslund-Gräsbeck syndrome
• Imerslund-Gräsbeck syndrome
• imidodipeptidase deficiency see Prolidase deficiency
• immigration delay disease see Adermatoglyphia
• immotile cilia syndrome see Primary ciliary dyskinesia
• Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
• Immune thrombocytopenia
• immune thrombocytopenic purpura see Immune thrombocytopenia
• immune-deficient poikiloderma see Poikiloderma with neutropenia
• immunodeficiency 14 see Activated PI3K-delta syndrome
• immunodeficiency 2 see Wiskott-Aldrich syndrome
• immunodeficiency 23 see PGM3-congenital disorder of glycosylation
• immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum see Vici syndrome
• immunodeficiency with hyper IgE and cognitive impairment see PGM3-congenital disorder of glycosylation
• Immunodeficiency with Hyper-IgM, type 1 see X-linked hyper IgM syndrome
• immunodeficiency, common variable see Common variable immune deficiency
• immunodeficiency, polyendocrinopathy, and enteropathy, X-linked see Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
• immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia see X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia
• immunodeficiency-vasculitis-myoclonus syndrome see PGM3-congenital disorder of glycosylation
• immunoosseous dysplasia, Schimke type see Schimke immuno-osseous dysplasia
• imperforate anus-hand and foot anomalies syndrome see Townes-Brocks Syndrome
• INAD see Infantile neuroaxonal dystrophy
• Inclusion body myopathy 2
• Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
• inclusion body myopathy with early-onset Paget disease of bone and/or frontotemporal dementia see Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
• inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia see Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
• Inclusion body myopathy, autosomal recessive see Inclusion body myopathy 2
• Inclusion body myopathy, quadriceps-sparing see Inclusion body myopathy 2
• inclusion cell disease see Mucolipidosis II alpha/beta
• Incontinentia pigmenti
• increased aromatase activity see Aromatase excess syndrome
• indifference to pain, congenital, autosomal recessive see Congenital insensitivity to pain
• infancy hyperinsulinemia hypoglycemia see Congenital hyperinsulinism
• infantile Batten disease see CLN1 disease
• infantile calcifying arteriopathy see Generalized arterial calcification of infancy
• infantile cortical hyperostosis see Caffey disease
• infantile epileptic-dyskinetic encephalopathy see Early infantile epileptic encephalopathy 1
• infantile genetic agranulocytosis see Severe congenital neutropenia
• infantile hemiplegia with porencephaly see Familial porencephaly
• infantile hypercalcemia see Williams syndrome
• infantile hypotonia with psychomotor retardation and characteristic facies-2 see UNC80 deficiency
• infantile leukoencephalopathy and megalencephaly see Megalencephalic leukoencephalopathy with subcortical cysts
• Infantile Multiple Carboxylase Deficiency see Holocarboxylase synthetase deficiency
• Infantile neuroaxonal dystrophy
• infantile neuronal ceroid lipofuscinosis see CLN1 disease
• infantile onset ascending spastic paralysis see Infantile-onset ascending hereditary spastic paralysis
• infantile onset multisystem inflammatory disease see Neonatal onset multisystem inflammatory disease
• infantile optic atrophy with chorea and spastic paraplegia see Costeff syndrome
• infantile parkinsonism-dystonia see Dopamine transporter deficiency syndrome
• infantile subacute necrotizing encephalopathy see Leigh syndrome
• infantile thoracic dystrophy see Asphyxiating thoracic dystrophy
• infantile X-linked SMA see X-linked infantile spinal muscular atrophy
• Infantile-onset ascending hereditary spastic paralysis
• infantile-onset ascending hereditary spastic paraplegia see Infantile-onset ascending hereditary spastic paralysis
• Infantile-onset spinocerebellar ataxia
• infantile-onset symptomatic epilepsy syndrome see GM3 synthase deficiency
• infection by Borrelia burgdorferi see Lyme disease
• infection due to Borrelia burgdorferi sensu lato see Lyme disease
• infection due to Mycobacterium leprae see Leprosy
• infertility associated with multi-tailed spermatozoa and excessive DNA see Macrozoospermia
• inflammatory bowel disease, ulcerative colitis type see Ulcerative colitis
• inflammatory myopathy, idiopathic see Idiopathic inflammatory myopathy
• inherited emphysema see Alpha-1 antitrypsin deficiency
• inherited erythroblastopenia see Diamond-Blackfan anemia
• inherited human transmissible spongiform encephalopathies see Prion disease
• inherited systemic hyalinosis see Hyaline fibromatosis syndrome
• inherited tendency to pressure palsies see Hereditary neuropathy with liability to pressure palsies
• Inherited thyroxine-binding globulin deficiency
• Insley-Astley syndrome see Otospondylomegaepiphyseal dysplasia
• insulin resistance - type A see Type A insulin resistance syndrome
• insulin resistance syndrome, type A see Type A insulin resistance syndrome
• insulin-dependent diabetes mellitus see Type 1 diabetes
• insulin-dependent diabetes mellitus secretory diarrhea syndrome see Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
• insulin-resistance syndrome type A see Type A insulin resistance syndrome
• insulin-resistant diabetes mellitus and acanthosis nigricans see Type A insulin resistance syndrome
• intellectual deficit, X-linked, South African type see Christianson syndrome
• intellectual disability and distinctive facial features with or without cardiac defects see MED13L syndrome
• intellectual disability, Birk-Barel type see KCNK9 imprinting syndrome
• intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome see PACS1 syndrome
• intellectual disability-hypotonia-facial dysmorphism syndrome see KCNK9 imprinting syndrome
• interleukin-1 receptor-associated kinase 4 deficiency see IRAK-4 deficiency
• intermittent ataxia with pyruvate dehydrogenase deficiency see Pyruvate dehydrogenase deficiency
• interstitial deletion of chromosome 15q24 see 15q24 microdeletion
• interstitial lung disease due to surfactant deficiency see Surfactant dysfunction
• intervertebral disc degeneration see Intervertebral disc disease
• Intervertebral disc disease
• intervertebral disc disorder see Intervertebral disc disease
• intervertebral disk degeneration see Intervertebral disc disease
• intestinal hypomagnesemia 1 see Hypomagnesemia with secondary hypocalcemia
• intestinal hypomagnesemia with secondary hypocalcemia see Hypomagnesemia with secondary hypocalcemia
• intestinal lymphagiectasia-lymphedema-mental retardation syndrome see Hennekam syndrome
• intestinal polyposis-cutaneous pigmentation syndrome see Peutz-Jeghers syndrome
• Intestinal pseudo-obstruction
• intracerebral cavernous hemangioma see Cerebral cavernous malformation
• intractable diarrhea of infancy see Microvillus inclusion disease
• intractable diarrhea with phenotypic anomalies see Trichohepatoenteric syndrome
• intrahepatic cholangiocarcinoma see Cholangiocarcinoma
• Intrahepatic cholestasis of pregnancy
• intranuclear nemaline rod myopathy see Intranuclear rod myopathy
• Intranuclear rod myopathy
• Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
• inv dup(15) see 15q11-q13 duplication syndrome
• inverted duplication 15 see 15q11-q13 duplication syndrome
• inverted smile and occult neuropathic bladder see Ochoa syndrome
• inverted smile-neurogenic bladder see Ochoa syndrome
• IOMID syndrome see Neonatal onset multisystem inflammatory disease
• IOSCA see Infantile-onset spinocerebellar ataxia
• IP see Incontinentia pigmenti
• IPEX syndrome see Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
• IPF see Idiopathic pulmonary fibrosis
• IPO see Intestinal pseudo-obstruction
• IRAK-4 deficiency
• IRAK4 deficiency see IRAK-4 deficiency
• Iraqi Jewish optic atrophy plus see Costeff syndrome
• IRIDA see Iron-refractory iron deficiency anemia
• IRIDA syndrome see Iron-refractory iron deficiency anemia
• irideremia see Aniridia
• irido-corneo-trabecular dysgenesis see Peters anomaly
• iris coloboma with ptosis, hypertelorism, and mental retardation see Baraitser-Winter syndrome
• iron storage disorder see Hereditary hemochromatosis
• iron-handling disorder, hereditary see Iron-refractory iron deficiency anemia
• Iron-refractory iron deficiency anemia
• iron-sulfur cluster deficiency myopathy see Myopathy with deficiency of iron-sulfur cluster assembly enzyme
• Isobutyryl-CoA dehydrogenase deficiency
• isobutyryl-coenzyme A dehydrogenase deficiency see Isobutyryl-CoA dehydrogenase deficiency
• isochromosome 12p syndrome see Pallister-Killian mosaic syndrome
• ISOD see Isolated sulfite oxidase deficiency
• isodicentric chromosome 15 see 15q11-q13 duplication syndrome
• isodicentric chromosome 15 syndrome see 15q11-q13 duplication syndrome
• Isolated congenital asplenia
• isolated CoQ-cytochrome c reductase deficiency see Mitochondrial complex III deficiency
• isolated deafness see Nonsyndromic hearing loss
• Isolated Duane retraction syndrome
• Isolated ectopia lentis
• isolated GH deficiency see Isolated growth hormone deficiency
• isolated glucocorticoid deficiency see Familial glucocorticoid deficiency
• Isolated growth hormone deficiency
• isolated HGH deficiency see Isolated growth hormone deficiency
• isolated holoprosencephaly see Nonsyndromic holoprosencephaly
• isolated HPE see Nonsyndromic holoprosencephaly
• isolated human growth hormone deficiency see Isolated growth hormone deficiency
• Isolated hyperchlorhidrosis
• Isolated hyperCKemia
• Isolated lissencephaly sequence
• isolated methylmalonic acidemia see Methylmalonic acidemia
• isolated noncompaction of the ventricular myocardium see Left ventricular noncompaction
• Isolated Pierre Robin sequence
• isolated pulmonary venous sclerosis see Pulmonary veno-occlusive disease
• isolated somatotropin deficiency see Isolated growth hormone deficiency
• isolated somatotropin deficiency disorder see Isolated growth hormone deficiency
• Isolated sulfite oxidase deficiency
• Isovaleric acid-CoA dehydrogenase deficiency see Isovaleric acidemia
• Isovaleric acidemia
• Isovaleryl-CoA dehydrogenase deficiency see Isovaleric acidemia
• ISSX see Early infantile epileptic encephalopathy 1
• ISSX1 see Early infantile epileptic encephalopathy 1
• ITP see Immune thrombocytopenia
• IVA see Isovaleric acidemia
• IVD deficiency see Isovaleric acidemia
• Ivemark syndrome see Heterotaxy syndrome
• IWC see Ichthyosis with confetti