![Genetics Home Reference, Your Guide to Understanding Genetic Conditions](https://ghr.nlm.nih.gov/images/GHR_LOGO_Tagline.png)
Health Conditions
Explore the signs and symptoms, genetic cause, and inheritance pattern of various 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, 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 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 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 systemic hyalinosis
- 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 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
- intellectual disability, Birk-Barel type, see KCNK9 imprinting 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 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
- ISOD, see Isolated sulfite oxidase deficiency
- 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 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
- Published: December 4, 2018
- The resources on this site should not be used as a substitute for professional medical care or advice. Users with questions about a personal health condition should consult with a qualified healthcare professional.
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