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 GNE myopathy
- 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 with Leukocyte Vacuolation, see Chanarin-Dorfman syndrome
- Ichthyosiform erythroderma, corneal involvement, and deafness, see Keratitis-ichthyosis-deafness syndrome
- Ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs, see CHILD syndrome
- 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
- IDDMSF, see Snijders Blok-Campeau 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 36, see Activated PI3K-delta syndrome
- 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 type 2, see GNE myopathy
- 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, hereditary, autosomal recessive, see GNE myopathy
- Inclusion body myopathy, quadriceps-sparing, see GNE myopathy
- Inclusion cell disease, see Mucolipidosis II alpha/beta
- Incontinentia pigmenti
- Increased aromatase activity, see Aromatase excess syndrome
- Indifference to pain, congenital, autosomal recessive, see Channelopathy-associated 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 Developmental and epileptic encephalopathy 1
- Infantile genetic agranulocytosis, see Severe congenital neutropenia
- Infantile hemiplegia with porencephaly, see Familial porencephaly
- 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 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 developmental disorder 62, see DLG4-related synaptopathy
- Intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies, see Snijders Blok-Campeau syndrome
- intellectual developmental disorder, autosomal dominant 62, see DLG4-related synaptopathy
- 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
- 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 Developmental and epileptic encephalopathy 1
- ISSX1, see Developmental and 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