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

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



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 1/2

• 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