Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program I/1 ENGLISH

Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program





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Browse the GARD list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate names. Inclusion on this list does not serve as official recognition by the NIH that a disease is rare. Some conditions that are not considered rare are on this list and are labeled accordingly.Read more about which diseases are included on the GARD website.

• I cell disease
• I(Y)(p10) - See Isochromosome Yp
• I2S deficiency - See Mucopolysaccharidosis type II
• IAHSP - See Infantile-onset ascending hereditary spastic paralysis
• IBD deficiency - See Isobutyryl-CoA dehydrogenase deficiency
• IBGC childhood onset - See Idiopathic basal ganglia calcification childhood-onset
• IBIDS syndrome - See Trichothiodystrophy
• IBM - See Inclusion body myositis
• IBM2 - See Inclusion body myopathy 2
• IBM3 - See Inclusion body myopathy 3
• IBMPFD - See Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
• IBS - See Ichthyosis bullosa of Siemens
• IBSN - See Striatonigral degeneration infantile
• IC - See Interstitial cystitis - not a rare disease
• IC/BPS - See Interstitial cystitis - not a rare disease
• IC/PBS - See Interstitial cystitis - not a rare disease
• ICCA - See Infantile convulsions and paroxysmal choreoathetosis, familial
• ICCA syndrome - See Infantile convulsions and paroxysmal choreoathetosis, familial
• ICD - See I cell disease
• ICE syndrome - See Iridocorneal endothelial syndrome
• ICF syndrome
• Ichthyosiform erythroderma with leukocyte vacuolation - See Chanarin-Dorfman syndrome
• Ichthyosiform erythroderma, Brocq congenital, nonbullous form - See Nonbullous congenital ichthyosiform erythroderma
• Ichthyosiform erythroderma, congenital, nonbullous, 1 - See Nonbullous congenital ichthyosiform erythroderma
• Ichthyosiform erythroderma, corneal involvement, deafness
• Ichthyosis acquisita - See Ichthyosis, acquired
• Ichthyosis alopecia eclabion ectropion mental retardation
• Ichthyosis bullosa of Siemens
• Ichthyosis cheek eyebrow syndrome
• Ichthyosis congenita - See Ichthyosis lamellar 1
• Ichthyosis congenita biliary atresia
• Ichthyosis congenita IIB - See Ichthyosis lamellar 2
• Ichthyosis congenita III - See Ichthyosis lamellar 3
• Ichthyosis congenita IV - See Ichthyosis prematurity syndrome
• Ichthyosis congenita, Harlequin fetus type - See Harlequin ichthyosis
• Ichthyosis congenita, neurosensory deafness, oligophrenia, dental aplasia, brachydactyly, clinodactyly, accessory cervical ribs and thyroid carcinoma - See Ruzicka Goerz Anton syndrome
• Ichthyosis deafness mental retardation skeletal anomalies - See Ruzicka Goerz Anton syndrome
• Ichthyosis follicularis atrichia photophobia syndrome
• Ichthyosis hystrix gravior
• Ichthyosis hystrix Rheydt type - See KID syndrome
• Ichthyosis hystrix, Curth Macklin type
• Ichthyosis intellectual deficit dwarfism renal impairment - See Ichthyosis, mental retardation, dwarfism and renal impairment
• Ichthyosis lamellar 1
• Ichthyosis lamellar 2
• Ichthyosis lamellar 3
• Ichthyosis lamellar, autosomal dominant
• Ichthyosis linearis circumflexa
• Ichthyosis prematurity syndrome
• Ichthyosis simplex - See Ichthyosis vulgaris
• Ichthyosis tapered fingers midline groove up
• Ichthyosis vulgaris
• Ichthyosis with hypotrichosis, autosomal recessive
• Ichthyosis, acquired
• Ichthyosis, bullous type - See Ichthyosis bullosa of Siemens
• Ichthyosis, CHILD syndrome - See CHILD syndrome
• Ichthyosis, erythrokeratolysis hemalis
• Ichthyosis, follicular
• Ichthyosis, hepatosplenomegaly, and cerebellar degeneration - See Dykes Markes Harper syndrome
• Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
• Ichthyosis, mental retardation and asymptomatic spasticity - See Koone Rizzo Elias syndrome
• Ichthyosis, mental retardation, dwarfism and renal impairment
• Ichthyosis, spastic neurologic disorder, and oligophrenia - See Sjogren-Larsson syndrome
• Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin
• Ichthyosis-sclerosing cholangitis syndrome - See Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
• Ichtyosis, Brittle hair, Intellectual impairment, Decreased fertility, and Short stature - See Trichothiodystrophy
• ICL - See Idiopathic CD4 positive T-lymphocytopenia
• ICP - See Intrahepatic cholestasis of pregnancy
• ICR2B - See Ichthyosis lamellar 2
• ICRD - See Infantile cerebellar retinal degeneration
• ICS - See Primary ciliary dyskinesia
• Icterohemorrhagic fever - See Leptospirosis
• IDD - See Intervertebral disc disease - not a rare disease
• IDDM - See Diabetes mellitus type 1 - not a rare disease
• IDDM secretory diarrhea syndrome - See Immunodysregulation, polyendocrinopathy and enteropathy X-linked
• IDDM-MED syndrome - See Epiphyseal dysplasia multiple with early-onset diabetes mellitus
• IDF - See Infantile digital fibromatosis
• Idic(15) - See Isodicentric chromosome 15 syndrome
• Idiopathic achalasia
• Idiopathic achalasia of esophagus - See Idiopathic achalasia
• Idiopathic acute eosinophilic pneumonia
• Idiopathic adolescent scoliosis - See Adolescent idiopathic scoliosis - not a rare disease
• Idiopathic alveolar hypoventilation syndrome
• Idiopathic aplastic anemia - See Aplastic anemia
• Idiopathic atrophoderma of Pasini and Pierini - See Atrophoderma of Pierini and Pasini
• Idiopathic autoimmune hemolytic anemia - See Autoimmune hemolytic anemia
• Idiopathic basal ganglia calcification 1 - See Primary Familial Brain Calcification
• Idiopathic basal ganglia calcification childhood-onset
• Idiopathic blepharospasm-oromandibular dystonia syndrome - See Meige syndrome
• Idiopathic BOOP - See Cryptogenic organizing pneumonia
• Idiopathic bronchiolitis obliterans organizing pneumonia - See Cryptogenic organizing pneumonia
• Idiopathic calciphylaxis - See Calciphylaxis
• Idiopathic camptocormia - See Camptocormism
• Idiopathic camptocormism - See Camptocormism
• Idiopathic catastrophic epileptic encephalopathy - See Febrile infection-related epilepsy syndrome
• Idiopathic CD4 lymphocytopenia - See Idiopathic CD4 positive T-lymphocytopenia
• IDIOPATHIC CD4 LYMPHOPENIA - See Idiopathic CD4 positive T-lymphocytopenia
• Idiopathic CD4 positive T-lymphocytopenia
• Idiopathic chronic, erosive gastritis - See Chronic erosive gastritis
• Idiopathic congenital central alveolar hypoventilation - See Congenital central hypoventilation syndrome
• Idiopathic congestive splenomegaly - See Banti's syndrome
• Idiopathic cyclic edema - See Idiopathic edema - not a rare disease
• Idiopathic deciduous skin - See Peeling skin syndrome
• Idiopathic dilatation of the pulmonary artery
• Idiopathic dilated cardiomyopathy - See Dilated cardiomyopathy
• Idiopathic double athetosis
• Idiopathic dystonia DYT1 - See DYT-TOR1A
• Idiopathic edema - not a rare disease
• Idiopathic eosinophilic chronic pneumopathy
• Idiopathic erythema nodosum - See Erythema nodosum, idiopathic
• Idiopathic facial palsy - See Bell's palsy
• Idiopathic familial premature ovarian failure - See FMR1-related primary ovarian insufficiency
• Idiopathic giant-cell myocarditis - See Giant cell myocarditis
• Idiopathic gigantomastia (subtype) - See Gigantomastia
• Idiopathic granulomatous hypophysitis - See Granulomatous hypophysitis
• Idiopathic granulomatous lobular mastitis - See Granulomatous lobular mastitis
• Idiopathic hydrops fetalis - See Hydrops fetalis
• Idiopathic hypercalciuria with bilateral macular colobomata - See Meier Blumberg Imahorn syndrome
• Idiopathic hypersomnia
• Idiopathic hypersomnolence - See Idiopathic hypersomnia
• Idiopathic hypertrophic cranial pachymeningitis - See Idiopathic hypertrophic pachymeningitis
• Idiopathic hypertrophic craniospinal pachymeningitis - See Idiopathic hypertrophic pachymeningitis
• Idiopathic hypertrophic osteoarthropathy - See Pachydermoperiostosis
• Idiopathic hypertrophic pachymeningitis
• Idiopathic hypertrophic spinal pachymeningitis - See Idiopathic hypertrophic pachymeningitis
• Idiopathic immunoglobulin deficiency - See Common variable immunodeficiency
• Idiopathic infantile arterial calcification - See Arterial calcification of infancy
• Idiopathic infection caused by BCG or atypical mycobacteria - See Mendelian susceptibility to mycobacterial diseases
• Idiopathic inflammatory myopathy
• Idiopathic inflammatory myopathy, familial - See Idiopathic inflammatory myopathy
• Idiopathic inflammatory myositis - See Idiopathic inflammatory myopathy
• Idiopathic interstitial pneumonitis - from asbestos exposure - See Asbestosis
• Idiopathic intracranial hypertension
• Idiopathic juvenile osteoporosis - See Juvenile osteoporosis
• Idiopathic juxtafoveal retinal telangiectasia - See Macular telangiectasia type 2 - not a rare disease
• Idiopathic juxtafoveal retinal telangiectasis - See Macular telangiectasia type 2 - not a rare disease
• Idiopathic juxtafoveal telangiectasis - See Macular telangiectasia type 2 - not a rare disease
• Idiopathic localized lipodystrophy (subtype) - See Localized lipodystrophy
• Idiopathic MacTel - See Macular telangiectasia type 2 - not a rare disease
• Idiopathic macular telangiectasia - See Macular telangiectasia type 2 - not a rare disease
• Idiopathic mediastinal fibrosis - See Fibrosing mediastinitis
• Idiopathic membranous nephropathy - See Membranous nephropathy
• Idiopathic minimal change nephrotic syndrome - See Minimal change disease
• Idiopathic multicentric Castleman's disease - See Multicentric Castleman Disease
• Idiopathic multicentric osteolysis with or without nephropathy - See Multicentric osteolysis nephropathy
• Idiopathic multicentric osteolysis with or without nephropathy - See Multicentric carpotarsal osteolysis syndrome
• Idiopathic myelofibrosis - See Myelofibrosis
• Idiopathic myeloid splenomegaly - See Myeloid splenomegaly
• Idiopathic neonatal Hemochromatosis - See Neonatal hemochromatosis
• Idiopathic neuralgic amyotrophy - See Parsonage Turner syndrome
• Idiopathic neutropenia - not a rare disease
• Idiopathic obliterative vasculopathy - See Eales disease
• Idiopathic orthostatic edema - See Idiopathic edema - not a rare disease
• Idiopathic orthostatic hypotension (a symptom) - See Pure autonomic failure
• Idiopathic perniosis - See Perniosis
• Idiopathic pleuroparenchymal fibroelastosis - See Pleuroparenchymal fibroelastosis
• Idiopathic pleuropulmonary fibroelastosis - See Pleuroparenchymal fibroelastosis
• Idiopathic portal hypertension - See Banti's syndrome
• Idiopathic progressive lumbar kyphosis - See Camptocormism
• Idiopathic pulmonary arterial hypertension - See Pulmonary arterial hypertension
• Idiopathic pulmonary fibrosis
• Idiopathic pulmonary hemosiderosis
• Idiopathic pulmonary hypertension - See Pulmonary arterial hypertension
• Idiopathic pure red cell aplasia - See Acquired pure red cell aplasia
• Idiopathic recurrent vitreal hemorrhage - See Eales disease
• Idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome - See IRVAN syndrome
• Idiopathic retinal-aneurysms-neuroretinitis syndrome - See IRVAN syndrome
• Idiopathic retroperitoneal fibrosis - See Retroperitoneal fibrosis
• Idiopathic sclerosing mesenteritis - See Sclerosing mesenteritis
• Idiopathic sexual precocity - See Precocious puberty
• Idiopathic spinal cord herniation
• Idiopathic subglottic stenosis - See Idiopathic subglottic tracheal stenosis
• Idiopathic subglottic tracheal stenosis
• Idiopathic thrombocythemia - See Essential thrombocythemia
• Idiopathic thrombocytopenic purpura
• Idiopathic thrombotic thrombocytopenic purpura - See Thrombotic thrombocytopenic purpura, acquired
• Idiopathic torsion dystonia - See DYT-TOR1A
• Idiopathic trachyonychia - See Twenty-nail dystrophy
• Idiopathic tropical malabsorption syndrome - See Tropical sprue
• Idiopathic ventricular fibrillation - See Paroxysmal ventricular fibrillation
• IDMDC - See Spastic paraplegia 18
• IDUA deficiency - See Mucopolysaccharidosis type I
• Iduronate 2-sulfatase deficiency - See Mucopolysaccharidosis type II
• IED - See Tufting enteropathy
• IFAP syndrome - See Ichthyosis follicularis atrichia photophobia syndrome
• IFD - See Intrinsic factor deficiency
• IFNGR1 deficiency - See Interferon gamma, receptor 1, deficiency
• IgA nephropathy
• IgA, selective deficiency of - See Selective IgA deficiency - not a rare disease
• IgA, selective deficiency of, TACI related - See Immunoglobulin A deficiency 2
• IGAD1 - See Selective IgA deficiency - not a rare disease
• IGAD2 - See Immunoglobulin A deficiency 2
• IGAN - See IgA nephropathy
• IGDA - See Iridogoniodysgenesis type 1
• IGDA syndrome - See Iridogoniodysgenesis type 1
• IGF1 deficiency - See Insulin-like growth factor I deficiency
• IGF-1 resistance - See Insulin-like growth factor 1 resistance to
• IgG deficiency - See Immunoglobulin G deficiency - not a rare disease
• IgG heavy chain disease - See Gamma heavy chain disease
• IgG subclass deficiency - See Immunoglobulin G deficiency - not a rare disease
• IgG4-associated disease - See IgG4-related disease
• IgG4-positive multiorgan lymphoproliferative syndrome - See IgG4-related disease
• IgG4-related autoimmune disease - See IgG4-related disease
• IgG4-related dacryoadenitis and sialadenitis
• IgG4-related disease
• IgG4-related mediastinitis - See Fibrosing mediastinitis
• IgG4-related retroperitoneal fibrosis - See Retroperitoneal fibrosis
• IgG4-related sclerosing disease - See IgG4-related disease
• IgG4-related systemic disease - See IgG4-related disease
• IgG4-related systemic sclerosing disease - See IgG4-related disease
• IgG4-syndrome - See IgG4-related disease
• IGHD 1B - See Isolated growth hormone deficiency type 1B
• IGHD IA - See Isolated growth hormone deficiency type 1A
• IGHD II - See Isolated growth hormone deficiency type 2
• IGHD III - See Isolated growth hormone deficiency type 3
• IGHD1A - See Isolated growth hormone deficiency type 1A
• IGHD1B - See Isolated growth hormone deficiency type 1B
• IGHD2 - See Isolated growth hormone deficiency type 2
• IGHD3 - See Isolated growth hormone deficiency type 3
• IGS - See Imerslund-Grasbeck syndrome
• IHCM - See Ichthyosis hystrix, Curth Macklin type
• IHG - See Iris hypoplasia and glaucoma
• IHIS - See Immunodeficiency with hyper IgM type 1
• IIAC - See Arterial calcification of infancy
• IIAE3 - See Infection-induced acute encephalopathy 3
• Iida Kannari syndrome
• IIH - See Idiopathic intracranial hypertension
• IIM - See Idiopathic inflammatory myopathy
• IJFT - See Macular telangiectasia type 2 - not a rare disease
• IJO - See Juvenile osteoporosis
• IJT - See Macular telangiectasia type 2 - not a rare disease
• IL10-related early-onset IBD - See Autosomal recessive early-onset inflammatory bowel disease
• IL10-related early-onset inflammatory bowel disease - See Autosomal recessive early-onset inflammatory bowel disease
• IL-12Râ1 deficiency - See IL12RB1 deficiency
• IL12RB1 deficiency
• Ileitis - See Crohn's disease - not a rare disease
• Iliac vein compression syndrome - See May-Thurner syndrome
• Iliocaval compression syndrome - See May-Thurner syndrome
• ILLIG type growth hormone deficiency - See Isolated growth hormone deficiency type 1A
• Illum syndrome - See Arthrogryposis multiplex congenita whistling face
• ILS - See Lissencephaly 1
• ILVASC - See Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
• ILVEN - See Inflammatory linear verrucous epidermal nevus
• IMAGe syndrome
• Imaizumi Kuroki syndrome
• IMD 2 - See Wiskott Aldrich syndrome
• IMD13 - See Idiopathic CD4 positive T-lymphocytopenia
• Imerslund-Grasbeck syndrome
• Imidodipeptidase deficiency - See Prolidase deficiency
• Iminoglycinuria
• IMM - See Idiopathic inflammatory myopathy
• Immigration delay disease - See Adermatoglyphia
• Immotile cilia syndrome - See Primary ciliary dyskinesia
• Immotile cilia syndrome due to excessively long cilia - See Ciliary dyskinesia with excessively long cilia
• Immotile cilia syndrome, due to defective radial spokes
• Immotile cilia syndrome, Kartagener type - See Kartagener syndrome
• Immune defect due to absence of thymus
• Immune deficiency, familial variable
• Immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16 - See ICF syndrome
• Immune dysfunction with T-cell inactivation due to calcium entry defect 1
• Immune dysfunction with T-cell inactivation due to calcium entry defect 2
• Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome - See Autosomal recessive early-onset inflammatory bowel disease
• Immune myopathy with myocyte necrosis - See Necrotizing autoimmune myopathy
• Immune thrombocytopenia
• Immune-mediated necrotizing myopathy - See Necrotizing autoimmune myopathy
• Immunoblastic lymphadenopathy - See Angioimmunoblastic T-cell lymphoma
• IMMUNODEFICIENCY 13 - See Idiopathic CD4 positive T-lymphocytopenia
• Immunodeficiency 2 - See Wiskott Aldrich syndrome
• Immunodeficiency 23 - See PGM3-CDG
• Immunodeficiency 31C; IMD31C - See Candidiasis familial chronic mucocutaneous, autosomal dominant
• Immunodeficiency 33 - See NF-kappa B Essential Modulator Deficiency
• Immunodeficiency due to selective anti-polysaccharide antibody deficiency - See Specific antibody deficiency
• Immunodeficiency syndrome, variable - See ICF syndrome
• Immunodeficiency with ataxia telangiectasia - See Ataxia telangiectasia
• Immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum - See Vici syndrome
• Immunodeficiency with hyper IgM type 1
• Immunodeficiency with hyper IgM type 2
• Immunodeficiency with hyper IgM type 3
• Immunodeficiency with hyper IgM type 4
• Immunodeficiency with hyper IgM type 5
• Immunodeficiency with thymoma
• Immunodeficiency without anhidrotic ectodermal dysplasia
• Immunodeficiency, isolated - See Immunodeficiency without anhidrotic ectodermal dysplasia
• Immunodeficiency, microcephaly with normal intelligence
• Immunodeficiency, pure - See Immunodeficiency without anhidrotic ectodermal dysplasia
• 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-centromeric instability-facial anomalies syndrome - See ICF syndrome
• Immunodysregulation, polyendocrinopathy and enteropathy X-linked
• Immunoglobulin A deficiency 1 - See Selective IgA deficiency - not a rare disease
• Immunoglobulin A deficiency 2
• Immunoglobulin A vasculitis - See Henoch-Schonlein purpura
• Immunoglobulin A, selective deficiency of - See Selective IgA deficiency - not a rare disease
• Immunoglobulin A, selective deficiency of, TACI related - See Immunoglobulin A deficiency 2
• Immunoglobulin Deficiency - See Primary agammaglobulinemia
• Immunoglobulin deficiency, late-onset - See Common variable immunodeficiency
• Immunoglobulin G deficiency - not a rare disease
• Immunoglobulin G4-related sclerosing disease - See IgG4-related disease
• Immunoglobulin-A vasculitis - See Henoch-Schonlein purpura
• Immuno-hemolytic anemia - See Autoimmune hemolytic anemia
• Immunoosseous dysplasia, Schimke type - See Schimke immunoosseous dysplasia
• Immunotactoid glomerulonephritis - See Immunotactoid glomerulopathy
• Immunotactoid glomerulopathy
• Immunotactoid or fibrillary glomerulonephritis - See Immunotactoid or fibrillary glomerulopathy
• Immunotactoid or fibrillary glomerulopathy - See Immunotactoid or fibrillary glomerulopathy
• Immunotactoid or fibrillary glomerulopathy
• IMNM - See Necrotizing autoimmune myopathy
• Impaired polysaccharide responsiveness - See Specific antibody deficiency
• Impairment of oral perception
• Imperforate anus
• Imperforate anus with hand, foot and ear anomalies - See Townes-Brocks syndrome
• Imperforate anus-hand, foot and ear anomalies syndrome - See Townes-Brocks syndrome
• Imperforate oropharynx-costo vetebral anomalies
• Impossible syndrome - See Chondrodysplasia situs inversus imperforate anus polydactyly
• Impuberism and anovulation due to resistance to LH - See Resistance to LH (luteinizing hormone)
• INAD - See Infantile neuroaxonal dystrophy
• INAD1 - See Infantile neuroaxonal dystrophy
• Inappropriate ADH syndrome - See Syndrome of inappropriate antidiuretic hormone - not a rare disease
• Inborn amino acid metabolism disorder
• Inborn error of urea synthesis, arginino succinic type - See Argininosuccinic aciduria
• Inborn renal aminoaciduria
• Incisors fused - See Single upper central incisor
• Inclusion body myopathy 2
• Inclusion body myopathy 3
• Inclusion body myopathy autosomal dominant - See Inclusion body myopathy 3
• Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
• Inclusion body myopathy with Paget disease of bone and 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 body myositis
• Inclusion cell disease - See I cell disease
• Inclusion conjunctivitis
• Incomplete achromatopsia X-linked - See Blue cone monochromatism
• Incontinentia pigmenti
• Incontinentia pigmenti achromians - See Hypomelanosis of Ito
• Incontinentia pigmenti type 1 (formerly) - See Hypomelanosis of Ito
• Incontinentia pigmenti type 2 (formerly) - See Incontinentia pigmenti
• Incontinentia pigmenti, familial male-lethal type - See Incontinentia pigmenti
• Increased-permeability pulmonary edema - See Acute respiratory distress syndrome
• Index finger anomaly with Pierre Robin syndrome - See Catel Manzke syndrome
• INDEX FINGER POLYDACTYLY - See Preaxial polydactyly type 3
• Indolent B cell lymphoma
• Indomethacin embryofetopathy - See Fetal indomethacin syndrome
• Infant botulism (subtype) - See Botulism
• Infant epilepsy with migrant focal crisis
• Infantile apnea
• Infantile axonal neuropathy
• Infantile bilateral striatal necrosis - See Striatonigral degeneration infantile
• Infantile cerebellar retinal degeneration
• Infantile cerebellar-retinal degeneration - See Infantile cerebellar retinal degeneration
• Infantile cerebellooptic atrophy - See PEHO syndrome
• Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly - See Postnatal progressive microcephaly, seizures, and brain atrophy
• Infantile choroidocerebral calcification syndrome
• Infantile convulsions and paroxysmal choreoathetosis, familial
• Infantile cortical hyperostosis - See Caffey disease
• Infantile digital fibromatosis
• Infantile form of phytanic acid storage disease - See Refsum disease, infantile form
• Infantile free sialic acid storage disease - See Free sialic acid storage disease
• Infantile fucosidosis - See Fucosidosis type 1
• Infantile histiocytoid cardiomyopathy
• Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency - See Combined oxidative phosphorylation deficiency 16
• Infantile liver failure syndrome 1
• Infantile liver failure syndrome 2
• Infantile myofibromatosis
• Infantile neuroaxonal dystrophy
• Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy - See Infantile neuroaxonal dystrophy
• Infantile Onset Multisystem Inflammatory Disease - See Neonatal Onset Multisystem Inflammatory disease
• Infantile onset spinocerebellar ataxia
• Infantile optic atrophy with chorea and spastic paraplegia - See OPA3 defect
• Infantile paralysis - See Poliomyelitis
• Infantile Parkinsonism-dystonia - See Dopamine transporter deficiency syndrome
• Infantile poliodystrophy - See Alpers syndrome
• Infantile progressive spinal muscular atrophy with ophthalmoplegia and pyramidal symptoms - See Spinal atrophy ophthalmoplegia pyramidal syndrome
• Infantile recurrent chronic multifocal osteomyolitis
• Infantile Refsum disease - See Refsum disease, infantile form
• Infantile respiratory distress syndrome - See Respiratory distress syndrome, infant
• Infantile scoliosis
• Infantile sialic acid storage disorder - See Free sialic acid storage disease
• Infantile spasm - See West syndrome
• Infantile spasms broad thumbs
• Infantile striato thalamic degeneration
• Infantile subacute necrotizing encephalopathy - See Leigh syndrome
• Infantile systemic hyalinosis (former subtype) - See Hyaline fibromatosis syndrome
• Infantile thoracic dystrophy - See Jeune syndrome
• Infantile xanthomatous cardiomyopathy - See Infantile histiocytoid cardiomyopathy
• Infantile-onset ascending hereditary spastic paralysis
• Infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness - See GM3 synthase deficiency
• Infarct of the spleen - See Splenic infarcts
• Infection due to cat liver fluke - See Opisthorchiasis
• Infection due to Opisthorchis (felineus)(viverrini) - See Opisthorchiasis
• Infection with trichinella - See Trichinosis
• Infection-induced acute encephalopathy 3
• Infectious arthritis
• Infectious myocarditis
• Infective endocarditis
• Infective myositis
• INFERTILITY ASSOCIATED WITH MULTI-TAILED SPERMATOZOA AND EXCESSIVE DNA - See Macrozoospermia
• Infiltrative brainstem glioma - See Diffuse intrinsic pontine glioma
• Inflammation of the whole uveal tract - See Panuveitis
• Inflammatory breast cancer
• Inflammatory fibrosarcoma - See Inflammatory myofibroblastic tumor
• Inflammatory linear verrucous epidermal naevus - See Inflammatory linear verrucous epidermal nevus
• Inflammatory linear verrucous epidermal nevus - See Inflammatory linear verrucous epidermal nevus
• Inflammatory linear verrucous epidermal nevus
• Inflammatory myofibroblastic tumor
• Inflammatory myopathy - See Inclusion body myositis
• Inflammatory occlusive peripheral vascular disease - See Buerger disease
• Inflammatory Rheumatism - See Rheumatic Fever
• Infundibulopelvic dysgenesis
• Inhalation of barytes - See Baritosis
• Inherited antithrombin deficiency - See Hereditary antithrombin deficiency
• Inherited antithrombin deficiency classic type - See Hereditary antithrombin deficiency type I
• Inherited antithrombin deficiency type I - See Hereditary antithrombin deficiency type I
• Inherited antithrombin deficiency type II - See Hereditary antithrombin deficiency type 2
• Inherited bone marrow failure syndromes - not a rare disease
• Inherited congenital bilateral atresia of the external auditory canal, congenital bilateral vertical talus and increased interocular distance - See Rasmussen Johnsen Thomsen syndrome
• Inherited hypoprothrombinemia - See Prothrombin deficiency
• Inherited Lipemic Splenomegaly - See Sea-Blue histiocytosis
• Inherited prothrombin deficiency - See Prothrombin deficiency
• Inherited reactive perforating collagenosis - See Familial reactive perforating collagenosis
• Inherited systemic hyalinosis - See Hyaline fibromatosis syndrome
• Iniencephaly
• INSENSITIVITY TO PAIN, CONGENITAL - See Hereditary sensory and autonomic neuropathy type V
• Insensitivity to pain, congenital, with anhidrosis - See Congenital insensitivity to pain with anhidrosis
• Insley-Astley syndrome - See OSMED Syndrome
• Insomnia familial fatal - See Fatal familial insomnia
• INSR-related severe syndromic insulin resistance - See Rabson-Mendenhall syndrome
• Instituto Venezolano de Investigaciones Cientificas syndrome - See IVIC syndrome
• Insulin autoimmune hypoglycemia - See Insulin autoimmune syndrome
• Insulin autoimmune syndrome
• Insulin-dependent diabetes mellitus - See Diabetes mellitus type 1 - not a rare disease
• Insulin-like growth factor 1 resistance to
• Insulin-like growth factor I deficiency
• Insulinoma
• Insulin-resistance type B
• Insulin-resistant acanthosis nigricans, type A
• Insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and mental retardation (formerly) - See Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
• Intelectual disability-dystonic movements-ataxia-seizures syndrome - See Partington syndrome
• Intellectual deficiency-epilepsy-endocrine disorders syndrome - See Borjeson-Forssman-Lehmann syndrome
• Intellectual deficit - short stature - hypertelorism
• Intellectual deficit Buenos-Aires type
• Intellectual deficit X-linked Siderius type - See X-linked intellectual disability, Siderius type
• Intellectual deficit, X-linked - psychosis - macroorchidism - See PPM-X syndrome
• Intellectual disability - athetosis - microphthalmia
• Intellectual disability - hypoplastic corpus callosum - preauricular tag
• Intellectual disability and distinctive facial features with or without cardiac defects - See MED13L haploinsufficiency syndrome
• Intellectual disability and microcephaly with pontine and cerebellar hypoplasia - See X-linked intellectual disability, Najm type
• Intellectual disability and muscular atrophy - See Allan-Herndon-Dudley syndrome
• Intellectual disability microcephaly epilepsy and ataxia syndrome - See Christianson syndrome
• Intellectual disability with absent fifth fingernail and terminal phalanx - See Coffin-Siris syndrome
• Intellectual disability with language impairment and with or without autistic features - See Intellectual disability-severe speech delay-mild dysmorphism syndrome
• Intellectual disability X-linked Abidi type - See X-linked intellectual disability, Abidi type
• Intellectual disability x-linked syndromic Christianson type - See Christianson syndrome
• Intellectual disability, autosomal dominant 19 - See Severe intellectual disability-progressive spastic diplegia syndrome
• Intellectual disability, autosomal dominant 6, with or without seizures - See GRIN2B related syndrome
• Intellectual disability, autosomal recessive 18 - See MED23
• Intellectual disability, deafness, skeletal abnormalities, coarse face with full lips - See Fountain syndrome
• Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
• Intellectual disability, Mietens-Weber type - See Mietens-Weber syndrome
• Intellectual disability, motor dysfunction, and joint contractures - See Spastic paraplegia 18
• Intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea - SeePitt-Hopkins syndrome
• Intellectual disability, X-linked 3 - See Methylmalonic acidemia and homocysteinemia type cblX
• Intellectual disability, X-linked with Growth Delay, Deafness, Microgenitalism - See Juberg Marsidi syndrome
• Intellectual disability, X-linked, syndromic 1 - See Partington syndrome
• Intellectual disability, X-linked, syndromic 15 - See Cabezas syndrome
• Intellectual disability, X-linked, with cerebellar hypoplasia and distinctive facial appearance - See OPHN1 syndrome
• Intellectual disability, X-linked, with dystonic movements, ataxia, and seizures - See Partington syndrome
• Intellectual disability, x-linked, with growth retardation, deafness, and microgenitalism - See Juberg Marsidi syndrome
• Intellectual disability-athetosis-microphthalmia syndrome - See Intellectual disability - athetosis - microphthalmia
• Intellectual disability-cataracts-calcified pinnae-myopathy syndrome - See Primrose syndrome
• Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome - See PACS1-related syndrome
• Intellectual disability-developmental delay-contractures syndrome
• Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
• Intellectual disability-epilepsy-bulbous nose syndrome - See Hernández-Aguirre Negrete syndrome
• Intellectual disability-epilepsy-endocrine disorders syndrome - See Borjeson-Forssman-Lehmann syndrome
• Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome - See Intellectual disability - hypoplastic corpus callosum - preauricular tag
• Intellectual disability-overweight syndrome caused by PHIP haploinsufficiency - See PHIP-Related disorder
• Intellectual disability-polydactyly-uncombable hair syndrome - See Kozlowski-Krajewska syndrome
• Intellectual disability-severe speech delay-mild dysmorphism syndrome
• Intellectual disability-spasticity-ectrodactyly syndrome
• Intellectual disability-truncal obesity syndrome - See MAN1B1-CDG
• Intellecutal disability with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip - See Garret Tripp syndrome
• Intercellular cholesterol esterification disease
• Interferon gamma, receptor 1, deficiency
• Interleukin 1 receptor antagonist deficiency - See Deficiency of interleukin-1 receptor antagonist
• Interleukin receptor-associated kinase deficiency - See IRAK-4 deficiency
• Intermediate congenital nemaline myopathy
• Intermediate congenital NM - See Intermediate congenital nemaline myopathy
• Intermediate nemaline myopathy - See Intermediate congenital nemaline myopathy
• Intermediate Salla disease - See Intermediate severe Salla disease
• Intermediate severe Salla disease
• Intermediate uveitis - See Pars planitis
• Intermittent cutaneous lupus - See Lupus erythematosus tumidus
• Internal carotid agenesis
• Internal carotid artery agenesis - See Internal carotid agenesis
• Interstitial 16p13.3 duplication - See Chromosome 16p13.3 duplication
• Interstitial cystitis - not a rare disease
• Interstitial cystitis/bladder pain syndrome - See Interstitial cystitis - not a rare disease
• Interstitial cystitis/painful bladder syndrome - See Interstitial cystitis - not a rare disease
• Interstitial lung disease - not a rare disease
• Interstitial megalocytic nephritis - See Megalocytic interstitial nephritis
• Intervertebral disc degeneration - See Intervertebral disc disease - not a rare disease
• Intervertebral disc disease - not a rare disease
• Intestinal amebiasis - See Amebiasis
• Intestinal atresia multiple
• Intestinal atresia type IIIb - See Jejunal atresia
• Intestinal atresia type IIIb - See Atresia of small intestine
• Intestinal epithelial dysplasia - See Tufting enteropathy
• Intestinal helminthiasis - See Helminthiasis
• Intestinal hypoganglionosis - See Hypoganglionosis
• Intestinal hypomagnesemia with secondary hypocalcemia - See Primary hypomagnesemia with secondary hypocalcemia
• Intestinal lipodystrophy - See Whipple disease
• Intestinal lipophagic granulomatosis - See Whipple disease
• Intestinal lymphagiectasia lymphedema intellectual deficit syndrome - See Hennekam syndrome
• Intestinal lymphangiectasia
• Intestinal malrotation facial anomalies familial type - See Stalker Chitayat syndrome
• Intestinal polyposis, osteomas, sebaceous cysts - See Gardner syndrome
• Intestinal pseudoobstruction - See Intestinal pseudo-obstruction
• Intestinal pseudo-obstruction
• Intestinal pseudoobstruction due to neuronal disease - See Visceral neuropathy familial
• Intestinal pseudoobstruction neuronal chronic idiopathic X-linked
• Intestinal pseudoobstruction with external ophthalmoplegia - See Familial visceral myopathy with external ophthalmoplegia
• Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth - See Natal teeth, intestinal pseudoobstruction and patent ductus
• Intestinovesical fistulae - See Enterovesical fistula
• Intraadrenal Paraganglioma - See Pheochromocytoma
• Intracardiac myxoma - See Atrial myxoma, familial
• Intracavitary tumors - See Heart tumor
• Intracortical fibrous dysplasia - See Osteofibrous dysplasia
• Intracranial aneurysms multiple congenital anomaly
• Intracranial arachnoid cysts - See Arachnoid cysts
• Intracranial arteriovenous malformation
• Intracranial AVM - See Intracranial arteriovenous malformation
• Intracranial epidermoid cyst - See Epidermoid brain cyst
• Intracranial germinoma - See Central nervous system germinoma
• Intracranial hypertension, idiopathic - See Idiopathic intracranial hypertension
• Intractable diarrhea of infancy - See Microvillus inclusion disease
• Intractable hiccups - See Chronic hiccups
• Intractable singultus - See Chronic hiccups
• Intrahepatic cholangiocarcinoma
• Intrahepatic cholestasis of pregnancy
• Intramural diverticulosis of the gallbladder - See Rokitansky-Aschoff sinuses of the gallbladder
• Intraneural perineurioma
• Intraocular melanoma
• Intrathoracic kidney vertebral fusion
• Intrauterine growth retardation - mandibular malar hypoplasia
• Intrauterine growth retardation with increased mitomycin C sensitivity
• Intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci - See Dubowitz syndrome
• Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome - SeeIMAGe syndrome
• Intrauterine infections
• Intrauterine synechiae - See Asherman's syndrome
• Intravascular papillary endothelial hyperplasia
• Intravenous leiomyomatosis
• Intrinsic factor deficiency
• Intrinsic factor, congenital deficiency of - See Intrinsic factor deficiency
• Inv dup(15) - See Isodicentric chromosome 15 syndrome
• INV DUP(22)(Q11) - See Cat eye syndrome
• Invasive Candidiasis - See Systemic candidiasis
• Invdupdel(8p) - See 8p inverted duplication/deletion syndrome
• Inversion 9 - See Chromosome 9 inversion - not a rare disease
• Inverted 8p duplication/deletion syndrome - See 8p inverted duplication/deletion syndrome
• Inverted duplication 15 - See Isodicentric chromosome 15 syndrome
• Inverted smile and occult neuropathic bladder - See Ochoa syndrome
• Involuntary emotional expression disorder - See Pseudobulbar affect - not a rare disease
• Iodine antenatal exposure
• IOMID - See Neonatal Onset Multisystem Inflammatory disease
• IOSCA - See Infantile onset spinocerebellar ataxia
• IP - See Incontinentia pigmenti
• IP2 (formerly) - See Incontinentia pigmenti
• IPA - See Hypomelanosis of Ito
• IPEX syndrome - See Immunodysregulation, polyendocrinopathy and enteropathy X-linked
• IPOX - See Intestinal pseudoobstruction neuronal chronic idiopathic X-linked
• IPPFE - See Pleuroparenchymal fibroelastosis
• IPS - See Ichthyosis prematurity syndrome
• IQSEC2
• IQSEC2-related epilepsy - See IQSEC2
• IQSEC2-related intellectual disability - See IQSEC2
• IRAK4 deficiency - See IRAK-4 deficiency
• IRAK-4 deficiency
• IRAN, type A - See Insulin-resistant acanthosis nigricans, type A
• Iraqi Jewish optic atrophy plus - See OPA3 defect
• IRD - See Refsum disease, infantile form
• IRDS - See Respiratory distress syndrome, infant
• IRF2BPL-related disorders
• IRF6-Related disorders
• IRID1 - See Iridogoniodysgenesis type 1
• IRID2 - See Iridogoniodysgenesis type 2
• IRIDA - See Iron-refractory iron deficiency anemia
• IRIDA syndrome - See Iron-refractory iron deficiency anemia
• Iridocorneal endothelial syndrome
• Iridocyclitis - See Anterior uveitis
• Iridogoniodysgenesis and skeletal anomalies
• Iridogoniodysgenesis anomaly, Autosomal dominant - See Iridogoniodysgenesis type 1
• Iridogoniodysgenesis type 1
• Iridogoniodysgenesis type 2
• Iridogoniodysgenesis with somatic anomalies - See Axenfeld-Rieger syndrome
• Iris coloboma with ptosis hypertelorism and mental retardation - See Baraitser-Winter syndrome
• Iris coloboma, mental retardation, obesity, hypogenitalism, and postaxial polydactyly - See Biemond syndrome 2
• Iris hypoplasia and glaucoma
• Iron miners lung - See Silicosiderosis
• Iron overload disease juvenile - See Hemochromatosis type 2
• Iron overload in Africa - See Bantu siderosis
• Iron-handling disorder, hereditary - See Iron-refractory iron deficiency anemia
• Iron-refractory iron deficiency anemia
• Irons Bhan syndrome
• IRVAN syndrome
• IS - See West syndrome
• Isaac syndrome - See Isaacs' syndrome
• Isaac-Mertens syndrome - See Isaacs' syndrome
• Isaacs' syndrome
• Isaac's-Merten's syndrome - See Isaacs' syndrome
• ISCH - See Idiopathic spinal cord herniation
• Ischemic optic neuropathy - See Anterior ischemic optic neuropathy
• Ischiadic hypoplasia renal dysfunction immunodeficiency
• ischiocoxopodopatellar syndrome - See Small patella syndrome
• Ischiopatellar dysplasia - See Small patella syndrome
• Islet cell tumor - See Pancreatic neuroendocrine tumor
• Isobutyryl-CoA dehydrogenase deficiency
• Isochromosome 18p - See Chromosome 18p tetrasomy
• Isochromosome 21 - See Tetrasomy 21
• Isochromosome Yp
• Isodicentric chromosome 15 syndrome
• Isolated 3-methylcrotonyl-CoA carboxylase deficiency - See 3-methylcrotonyl-CoA carboxylase deficiency
• Isolated ACTH deficiency
• Isolated Adrenocorticotropic hormone deficiency - See Isolated ACTH deficiency
• Isolated anophthalmia - microphthalmia - See Microphthalmia
• Isolated anophthalmia-microphthalmia syndrome - See Microphthalmia
• Isolated anterior cervical hypertrichosis
• Isolated atresia of bile ducts - See Biliary atresia
• Isolated autosomal dominant hypomagnesemia - See Renal hypomagnesemia 2
• Isolated autosomal dominant polycystic liver disease - See Polycystic liver disease
• Isolated Biliary atresia - See Biliary atresia
• Isolated cloverleaf skull syndrome - See Kleeblattschaedel syndrome
• Isolated complex I deficiency - See Mitochondrial complex I deficiency
• Isolated congenital adermatoglyphia - See Adermatoglyphia
• Isolated congenital anonychia - See Anonychia congenita
• Isolated congenital anosmia - See Congenital anosmia
• Isolated congenital controlateral synkinesia - See Congenital mirror movement disorder
• Isolated congenital megalocornea
• Isolated congenital mirror movements - See Congenital mirror movement disorder
• Isolated congenital nail dysplasia - See Nail dysplasia, isolated congenital
• Isolated corpus callosum agenesis - See Corpus callosum agenesis
• Isolated diffuse mesangial sclerosis - See Diffuse mesangial sclerosis
• Isolated ectopia lentis
• Isolated follicle-stimulating hormone (FSH) deficiency - See Follicle-stimulating hormone deficiency, isolated
• Isolated FSH deficiency - See Follicle-stimulating hormone deficiency, isolated
• Isolated growth hormone deficiency
• Isolated growth hormone deficiency type 1A
• Isolated growth hormone deficiency type 1B
• Isolated growth hormone deficiency type 2
• Isolated growth hormone deficiency type 3
• Isolated growth hormone deficiency type IA - See Isolated growth hormone deficiency type 1A
• Isolated growth hormone deficiency type II - See Isolated growth hormone deficiency type 2
• Isolated hyperostosis of the calvarium - See Calvarial hyperostosis
• Isolated hypoplasia of the right ventricle - See Right ventricle hypoplasia
• Isolated levocardia
• Isolated levocardia with situs inversus - See Isolated levocardia
• Isolated median cleft face syndrome - See Frontonasal dysplasia
• Isolated median cleft syndrome - See Frontonasal dysplasia
• Isolated microphthalmia-anophthalmia-coloboma - See Microphthalmia
• Isolated mitochondrial respiratory chain complex I deficiency - See Mitochondrial complex I deficiency
• Isolated NADH-coenzyme Q reductase deficiency - See Mitochondrial complex I deficiency
• Isolated NADH-CoQ reductase deficiency - See Mitochondrial complex I deficiency
• Isolated NADH-ubiquinone reductase deficiency - See Mitochondrial complex I deficiency
• Isolated polycystic liver disease - See Polycystic liver disease
• Isolated pure microphthalmia - See Microphthalmia
• Isolated renal magnesium wasting - See Renal hypomagnesemia 2
• Isolated right ventricular hypoplasia - See Right ventricle hypoplasia
• Isolated UAPA - See Unilateral absence of a pulmonary artery
• Isolated unilateral absence of a pulmonary artery - See Unilateral absence of a pulmonary artery
• Isolated vitamin E deficiency - See Ataxia with vitamin E deficiency
• Isosporiasis - See Cystoisosporiasis
• Isotretinoin (RoAccutane) embryopathy - See Fetal retinoid syndrome
• Isotretinoin embryopathy - See Fetal retinoid syndrome
• Isotretinoin embryopathy like syndrome
• Isotretinoin fetal effects of - See Fetal retinoid syndrome
• Isotretinoin teratogen syndrome - See Fetal retinoid syndrome
• Isovaleric acid CoA dehydrogenase deficiency - See Isovaleric acidemia
• Isovaleric acidemia
• Isovaleryl CoA carboxylase deficiency - See Isovaleric acidemia
• ISSD - See Free sialic acid storage disease
• Isthmian coarctation
• ITCH E3 ubiquitin ligase deficiency
• ITM2B amyloidosis - See Dementia, familial Danish
• ITO - See Hypomelanosis of Ito
• Ito hypomelanosis - See Hypomelanosis of Ito
• ITP - See Idiopathic thrombocytopenic purpura
• IVA - See Isovaleric acidemia
• IVD deficiency - See Isovaleric acidemia
• Ivemark syndrome
• IVF - See Paroxysmal ventricular fibrillation
• IVIC syndrome
• Iwashita syndrome - See Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy