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