Genetic diseases-I
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- 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
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