Health Conditions - Genetics Home Reference: I

Health Conditions - Genetics Home Reference

Health Conditions

• 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
• 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, seecongenital 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
• idic(15), see isodicentric chromosome 15 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 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
• IIAC, see generalized arterial calcification of infancy
• IIAE3, see acute necrotizing encephalopathy type 1
• IL2RG SCID, T- B+ NK-, see X-linked severe combined immunodeficiency
• ILC, see Netherton syndrome
• Ileitis, see Crohn disease
• Ileocolitis, see Crohn disease
• 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
• immunodeficiency 14, see activated PI3K-delta syndrome
• immunodeficiency 2, see Wiskott-Aldrich syndrome
• Immunodeficiency with Hyper-IgM, type 1, see X-linked hyper IgM syndrome
• immunodeficiency, common variable, see common variable immune deficiency
• 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
• 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 infantile neuronal ceroid lipofuscinosis
• infantile calcifying arteriopathy, see generalized arterial calcification of infancy
• infantile cortical hyperostosis, see Caffey disease
• infantile epileptic-dyskinetic encephalopathy, see X-linked infantile spasm syndrome
• infantile genetic agranulocytosis, see severe congenital neutropenia
• infantile hemiplegia with porencephaly, see familial porencephaly
• infantile hypercalcemia, see Williams syndrome
• 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
• 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 systemic hyalinosis
• infantile thoracic dystrophy, see asphyxiating thoracic dystrophy
• 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
• 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 juvenile hyaline fibromatosis
• inherited systemic hyalinosis, see infantile systemic hyalinosis
• 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
• 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 isodicentric chromosome 15 syndrome
• inverted duplication 15, see isodicentric chromosome 15 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
• isodicentric chromosome 15, see isodicentric chromosome 15 syndrome
• isodicentric chromosome 15 syndrome
• 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 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
• Isovaleric acid-CoA dehydrogenase deficiency, see isovaleric acidemia
• isovaleric acidemia
• Isovaleryl-CoA dehydrogenase deficiency, see isovaleric acidemia
• ISSX, see X-linked infantile spasm syndrome
• ITP, see immune thrombocytopenia
• IVA, see isovaleric acidemia
• IVD deficiency, see isovaleric acidemia
• Ivemark syndrome, see heterotaxy syndrome
• IWC, see ichthyosis with confetti