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I-Cell Disease see mucolipidosis II alpha/beta
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I2S deficiency see mucopolysaccharidosis type II
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IAHSP see infantile-onset ascending hereditary spastic paralysis
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IBD deficiency see isobutyryl-CoA dehydrogenase deficiency
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IBIDS see trichothiodystrophy
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IBM2 see inclusion body myopathy 2
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IBMPFD see inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
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ichthyoses, lamellar see lamellar ichthyosis
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Ichthyosiform Erythroderma, Congenital
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ichthyosiform erythroderma, corneal involvement, and deafness see keratitis-ichthyosis-deafness syndrome
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Ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs see congenital hemidysplasia with ichthyosiform erythroderma and limb defects
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Ichthyosis
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Ichthyosis Congenita, Harlequin Fetus Type see harlequin ichthyosis
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ichthyosis, lamellar see lamellar ichthyosis
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ichthyosis oligophrenia syndrome see Sjögren-Larsson syndrome
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Ichthyotic neutral lipid storage disease see Chanarin-Dorfman syndrome
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IDDM see type 1 diabetes
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idic(15) see isodicentric chromosome 15 syndrome
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idiopathic hyperphosphatasia see juvenile Paget disease
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idiopathic hypertrophic subaortic stenosis see familial hypertrophic cardiomyopathy
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idiopathic infantile nystagmus see X-linked infantile nystagmus
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idiopathic inflammatory myopathy
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idiopathic juvenile osteoporosis see juvenile primary osteoporosis
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idiopathic myelofibrosis see primary myelofibrosis
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idiopathic proctocolitis see ulcerative colitis
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idiopathic pulmonary fibrosis
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Idiopathic pulmonary hypertension see pulmonary arterial hypertension
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IDUA deficiency see mucopolysaccharidosis type I
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Iduronate 2-sulfatase deficiency see mucopolysaccharidosis type II
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Ileitis see Crohn disease
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Ileocolitis see Crohn disease
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IMAGe anomaly see intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
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IMAGe association see intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
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IMAGe syndrome see intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
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IMD2 see Wiskott-Aldrich syndrome
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imidodipeptidase deficiency see prolidase deficiency
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immotile cilia syndrome see primary ciliary dyskinesia
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immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
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Immune System and Disorders
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immunodeficiency 2 see Wiskott-Aldrich syndrome
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immunodeficiency, common variable see common variable immune deficiency
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Immunodeficiency with Hyper-IgM, type 1 see X-linked hyper IgM syndrome
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immunoosseous dysplasia, Schimke type see Schimke immuno-osseous dysplasia
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imperforate anus-hand and foot anomalies syndrome see Townes-Brocks Syndrome
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INAD see infantile neuroaxonal dystrophy
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inclusion body myopathy 2
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inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
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Inclusion Cell Disease see mucolipidosis II alpha/beta
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incontinentia pigmenti
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infancy hyperinsulinemia hypoglycemia see familial hyperinsulinism
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infantile cortical hyperostosis see Caffey disease
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infantile epileptic-dyskinetic encephalopathy see X-linked infantile spasm syndrome
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infantile genetic agranulocytosis see severe congenital neutropenia
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infantile hemiplegia with porencephaly see familial porencephaly
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Infantile hypercalcemia see Williams syndrome
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infantile leukoencephalopathy and megalencephaly see megalencephalic leukoencephalopathy with subcortical cysts
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Infantile Multiple Carboxylase Deficiency see holocarboxylase synthetase deficiency
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infantile neuroaxonal dystrophy
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infantile-onset ascending hereditary spastic paralysis
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infantile onset multisystem inflammatory disease see neonatal onset multisystem inflammatory disease
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infantile-onset spinocerebellar ataxia
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infantile subacute necrotizing encephalopathy see Leigh syndrome
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infantile systemic hyalinosis
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infantile thoracic dystrophy see asphyxiating thoracic dystrophy
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Infectious Mononucleosis see X-linked lymphoproliferative disease
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Infertility
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inflammatory bowel disease, ulcerative colitis type see ulcerative colitis
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inflammatory myopathy, idiopathic see idiopathic inflammatory myopathy
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inherited emphysema see alpha-1 antitrypsin deficiency
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inherited erythroblastopenia see Diamond-Blackfan anemia
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Inherited Human Transmissible Spongiform Encephalopathies see prion disease
- inherited systemic hyalinosis see infantile systemic hyalinosis; juvenile hyaline fibromatosis
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inherited tendency to pressure palsies see hereditary neuropathy with liability to pressure palsies
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inherited thyroxine-binding globulin deficiency
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Insley-Astley syndrome see otospondylomegaepiphyseal dysplasia
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insulin-dependent diabetes mellitus see type 1 diabetes
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intellectual deficit, X-linked, South African type see Christianson syndrome
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intermittent ataxia with pyruvate dehydrogenase deficiency see pyruvate dehydrogenase deficiency
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interstitial deletion of chromosome 15q24 see 15q24 microdeletion
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interstitial lung disease due to surfactant deficiency see surfactant dysfunction
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Interstitial Lung Diseases
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Intestinal Cancer see gastrointestinal stromal tumor
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Intestinal Obstruction
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intestinal polyposis-cutaneous pigmentation syndrome see Peutz-Jeghers syndrome
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intestinal pseudo-obstruction
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intracerebral cavernous hemangioma see cerebral cavernous malformation
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intrahepatic cholestasis of pregnancy
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intranuclear rod myopathy
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intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
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inv dup(15) see isodicentric chromosome 15 syndrome
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inverted duplication 15 see isodicentric chromosome 15 syndrome
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inverted smile and occult neuropathic bladder see Ochoa syndrome
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inverted smile-neurogenic bladder see Ochoa syndrome
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IOMID syndrome see neonatal onset multisystem inflammatory disease
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IOSCA see infantile-onset spinocerebellar ataxia
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IP see incontinentia pigmenti
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IPEX syndrome see immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
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IPF see idiopathic pulmonary fibrosis
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IPO see intestinal pseudo-obstruction
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IRAK-4 deficiency
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IRAK4 deficiency see IRAK-4 deficiency
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irideremia see aniridia
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iris coloboma with ptosis, hypertelorism, and mental retardation see Baraitser-Winter syndrome
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Iron
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Iron storage disorder see hemochromatosis
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iron-sulfur cluster deficiency myopathy see myopathy with deficiency of iron-sulfur cluster assembly enzyme
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Islet Cell Transplantation see type 1 diabetes
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isobutyryl-CoA dehydrogenase deficiency
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isobutyryl-coenzyme A dehydrogenase deficiency see isobutyryl-CoA dehydrogenase deficiency
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isochromosome 12p syndrome see Pallister-Killian mosaic syndrome
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18p isochromosome see tetrasomy 18p
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isodicentric chromosome 15 syndrome
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Isolated deafness see nonsyndromic deafness
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isolated Duane retraction syndrome
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isolated growth hormone deficiency
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isolated holoprosencephaly see nonsyndromic holoprosencephaly
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isolated HPE see nonsyndromic holoprosencephaly
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isolated methylmalonic acidemia see methylmalonic acidemia
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isovaleric acidemia
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Isovaleryl-CoA dehydrogenase deficiency see isovaleric acidemia
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ISSX see X-linked infantile spasm syndrome
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IVA see isovaleric acidemia
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IVD deficiency see isovaleric acidemia
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