- 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
sábado, 26 de enero de 2019
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
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