I - Health Conditions - Genetics Home Reference - NIH

I - Health Conditions - Genetics Home Reference - NIH

• 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 with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum, see Vici syndrome
• 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
• 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