I | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

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

• 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
• 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 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, 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
• 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 eosinophilic pneumonia - See Chronic eosinophilic pneumonia
• 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 dystonia DYT1 - See DYT-TOR1A
• Idiopathic edema - not a rare disease
• Idiopathic eosinophilic chronic pneumopathy - See Chronic eosinophilic pneumonia
• 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 familial right atrial dilatation - See Right atrium familial dilatation
• 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 carpotarsal osteolysis syndrome
• Idiopathic multicentric osteolysis with or without nephropathy - See Multicentric osteolysis nephropathy
• 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
• 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, 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
• Immunodeficiency-short limb dwarfism syndrome - See Short-limb skeletal dysplasia with severe combined immunodeficiency
• 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
• Immunotactoid or fibrillary glomerulopathy - See 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
• 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 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
• Inflammatory linear verrucous epidermal nevus - See 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
• 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 Free sialic acid storage disease
• Intermediate severe Salla disease - See Free sialic acid storage 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 deletion 3q23-25 - See Wisconsin syndrome
• 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 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 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
• 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 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
• 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 spina bifida - See Spina bifida
• 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
• 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