Search Results for: A
Also known as: Aarskog disease, Aarskog-Scott syndrome, AAS, faciodigitogenital syndrome, faciogenital dysplasia, FGDY, Scott Aarskog syndrome Also known as: ABL, Bassen-Kornzweig syndrome, low density lipoprotein deficiency, microsomal triglyceride transfer protein deficiency, MTP deficiency Also known as: AMS Also known as: Acanthocheilonemiasis perstans, Dipetalonema perstans, Dipetalonemiasis, Mansonella perstans Also known as: familial apoceruloplasmin deficiency, hereditary ceruloplasmin deficiency Also known as: cardiospasm, dyssynergia esophagus, esophageal aperistalsis, megaesophagus Also known as: Diabetic Bearded Woman SyndromeSubdivisions: achondrogenesis type IA (Houston-Harris type), achondrogenesis type IB (Fraccaro type), achondrogenesis type II (Langer-Saldino type)
Also known as: ACH, achondroplastic dwarfism, dwarf, achondroplastic Also known as: ASMD, ASM Deficiency, Acid Sphingomyelinase-deficient Niemann-Pick Disease, ASM-deficient Niemann-Pick DiseaseSubdivisions: Niemann-Pick disease type A (NPD-A), Niemann-Pick disease type B (NPD-B)
Also known as: Methylmalonic Aciduria Also known as: acoustic neurilemoma, acoustic neurinoma, fibroblastoma, perineural, neurinoma of the acoustic nerve, neurofibroma of the acoustic nerve, schwannoma of the acoustic nerve, vestibular schwannoma Also known as: idiopathic aplastic anemia, immune aplastic anemia Also known as: acquired hemophilia A (AHA), acquired hemophilia B (AHB)Subdivisions: acquired generalized lipodystrophy (AGL; Lawrence syndrome), acquired partial lipodystrophy (APL; Barraquer-Simons syndrome), high active antiretroviral therapy (HAART) induced lipodystrophy (LD-HIV), localized lipodystrophy
Also known as: Isaacs-Merten syndrome, Isaacs' syndrome, continuous muscle fiber activity syndrome Also known as: Absence of Corpus Callosum, Schinzel Type, ACLS, ACS, Hallux Duplication, Postaxial Polydactyly, and Absence of Corpus Callosum, Schinzel Acrocallosal Syndrome Also known as: AE, Brandt syndrome, Danbolt-Cross syndrome, zinc deficiency, congenital Also known as: acrodysostosis with or without hormone resistance, Arkless-Graham syndrome, Maroteaux-Malamut syndrome Also known as: acromesomelic dwarfismSubdivisions: acromesomelic dysplasia, Maroteaux type, acromesomelic dysplasia, Osebold-Remondini type, acromesomelic dysplasia with genital anomalies, fibular hypoplasia and complex brachydactyly (Du Pan syndrome), Grebe dysplasia (including Hunter-Thompson type)
Also known as: Acromicric Skeletal Dysplasia Also known as: adrenocorticotropic hormone deficiency, isolated Also known as: acute acalculous cholecystitis (AAC), acute calculous cholecystitis Also known as: ADEM, ADESubdivisions: acute hemorrhagic leukoencephalitis
Also known as: AEP, IAEP, idiopathic acute eosinophilic pneumonia Also known as: AIP, Swedish Porphyria Also known as: acute granulocytic leukemia, acute myelogenous leukemia, acute myelogenous leukemia, acute nonlymphocytic leukemia, AML Also known as: APL, APML Also known as: acute lung injury, adult respiratory distress syndrome, ARDS, noncardiogenic pulmonary edema, increased-permeability pulmonary edema Also known as: limb scalp and skull defects, AOS, congenital scalp defects with distal limb anomalies, congenital scalp defects with distal limb reduction anomalies, limb, scalp, and skull defects, Adams Oliver syndromeSubdivisions: familial dyskinesia with facial myokymia (FDFM), variant of familial benign chorea
Also known as: chronic adrenocortical insufficiency, primary adrenal insufficiency, primary failure adrenocortical insufficiencySubdivisions: No subdivisions found
Also known as: ACC, adenocystic carcinoma, cribriform carcinoma, cylindroma Also known as: adenylosuccinase deficiency, succinylpurinemic autism, ADSL deficiencySubdivisions: adenylosuccinate lyase deficiency fatal neonatal form, adenylosuccinate lyase deficiency type I (severe form), adenylosuccinate lyase deficiency type II (mild/moderate form)
Also known as: Adie's Pupil, Adie's Syndrome, Adie's Tonic Pupil, Holmes-Adie Syndrome, tonic pupil syndrome Also known as: ADNP-related intellectual disability, autism-related spectrum disorder, Helsmoortel-Van Der Aa syndrome (HVDAS) Also known as: adult NCL, ANCL, Kufs syndrome, Kufs disease, Parry disease, neuronal ceroid lipofuscinosis, adult type Also known as: APBD, polyglucosan body disease, adult form Also known as: hereditary diffuse leukoencephalopathy with spheroids (HDLS) , leukoencephalopathy, diffuse hereditary, with spheroids , adult-onset leukodystrophy with neuroaxonal spheroids , autosomal dominant leukoencephalopathy with neuroaxonal spheroids , neuroaxonal leukodystrophy , pigmentary orthochromatic leukodystrophy (POLD) , CSF1R-related leukoencephalopathy , ALSP Also known as: adult Still's disease, AOSD, Wissler-Fanconi syndromeSubdivisions: monophasic AOSD, polyphasic (intermittent) AOSD, chronic AOSD
Also known as: ankyloblepharon-ectodermal defects-cleft lip/palate, ankyloblepharon-ectodermal dysplasia-cleft lip/palate syndrome, Hay-Wells syndrome, Rapp-Hodgkin syndrome Also known as: African siderosis, Bantu siderosis Also known as: hypogammaglobulinemiaSubdivisions: autosomal recessive agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia (XLA)
Also known as: ACC, Corpus Callosum, AgenesisSubdivisions: Acquired Form of ACC, Aicardi Syndrome, Autosomal Recessive Inheritance ACC (e.g. Andermann syndrome), X-Linked Dominant Inheritance ACC (e.g. ARX)
Also known as: Agranulocytic Angina, Granulocytopenia, Primary, Neutropenia, Malignant Also known as: Amenorrhea-Galactorrhea-FSH Decrease Syndrome, Argonz-Del Castillo Syndrome, Galactorrhea-Amenorrhea without Pregnancy, Nonpuerperal Galactorrhea-Amenorrhea Also known as: agenesis of corpus callosum with chorioretinitis abnormality, agenesis of corpus callosum with infantile spasms and ocular anomalies, callosal agenesis and ocular abnormalities, chorioretinal anomalies with ACC, corpus callosum, agenesis of chorioretinal abnormalitySubdivisions: No subdivisions found
Also known as: Dysmorphic Acquired Immune Deficiency Syndrome, Dysmorphic AIDS, Fetal Acquired Immune Deficiency Syndrome (AIDS), Fetal AIDS Infection, Fetal Effects of AIDS, HIV Embryopathy, Perinatal AIDS Also known as: ADP, ALAD deficiency, ALA-dehydratase deficient porphyria, delta-aminolevulinate dehydratase deficiency, Doss porphyria, porphyria of Doss Also known as: Alagille-Watson syndrome, arteriohepatic dysplasia, cholestasis with peripheral pulmonary stenosis, syndromic bile duct paucity, ALGS Also known as: dysmyelogenic leukodystrophy, dysmyelogenic leukodystrophy-megalobare, fibrinoid degeneration of astrocytes, fibrinoid leukodystrophy, hyaline panneuropathy, leukodystrophy with rosenthal fibers, megalencephaly with hyaline inclusion, megalencephaly with hyaline panneuropathy Also known as: AKU, alcaptonuria Also known as: Alopecia Celsi, Alopecia Cicatrisata, Alopecia Circumscripta, Cazenave's Vitiligo, Celsus' Vitiligo, Jonston's Alopecia, Porrigo Decalvans, Vitiligo CapitisSubdivisions: Alopecia Seminuniversalis, Alopecia Totalis, Alopecia Universalis
Also known as: Alpers Diffuse Degeneration of Cerebral Gray Matter with Hepatic Cirrhosis, Alpers Progressive Infantile Poliodystrophy, Diffuse Cerebral Degeneration in Infancy, Poliodystrophia Cerebri Progressiva, Progressive Cerebral PoliodystrophySubdivisions: Alpha thalassemia silent carrier, Alpha thalassemia minor (trait), Hemoglobin H (HbH) disease, Hemoglobin H-Constant Spring, Hb Bart's hydrops fetalis
Also known as: ATR-X syndrome, Carpenter-Waziri syndrome, cerebrofaciogenital syndrome, Chudley-Lowry syndrome, Holmes-Gang syndrome, XLID-hypotonic face syndrome, X-linked intellectual disability - arch fingerprints- hypotonia syndrome Also known as: A1AD, AATD, genetic emphysema Also known as: alpha-mannosidase B deficiency, lysosomal alpha-D-mannosidase deficiency, mannosidase, alpha B, lysosomal, mannosidosis, mannosidosis, alpha B, lysosomalSubdivisions: alpha-mannosidosis, type I, alpha-mannosidosis, type II, alpha-mannosidosis, type III
Also known as: hematuria-nephropathy deafness (former), hemorrhagic familial nephritis (former), hereditary deafness and nephropathy (former), hereditary nephritis (former), hereditary nephritis with sensory deafness (former)Subdivisions: autosomal dominant Alport syndrome (ADAS), autosomal recessive Alport syndrome (ARAS), X-linked Alport syndrome (XLAS)
Also known as: ALMS, Alstrom-Halgren Syndrome Also known as: AHC, alternating hemiplegia syndrome Also known as: ACDMPV, alveolar capillary dysplasia Also known as: Alveolar sarcoma of soft parts, Alveolar soft-tissue sarcoma, ASPS, ASP sarcoma Also known as: No synonyms foundSubdivisions: No subdivisions found
Also known as: Adamantinoma, Mandibular Ameloblastoma, Maxillary Ameloblastoma, Odontogenic Tumor Also known as: AISubdivisions: hypoplastic (type I), hypomaturation (type II), hypocalcified (type III), hypomaturation/hypoplasia/taurodontism (type IV)
Also known as: ABS, amnion rupture sequence, amniotic bands, amniotic band sequence, amniotic deformity, adhesions, mutilations (ADAM) complex, congenital constriction rings, constriction band syndrome, limb body wall complex, Streeter anomaly, Streeter bands, Streeter dysplasia Also known as: anaphylactoid syndrome of pregnancy, AFESubdivisions: AL amyloidosis, ATTR amyloidosis – ATTRm or ATTRwt amyloidosis, AA amyloidosis, dialysis-related beta2-microglobulin amyloidosis (ABM2)
Also known as: ALS, Lou Gehrig's Disease Also known as: astrocytoma, grade III, malignant astrocytoma, grade III Also known as: amylopectinosis, Andersen glycogenosis, brancher deficiency, branching enzyme deficiency, glycogenosis type IV, glycogen storage disease IV Also known as: Andersen syndrome, ATS, long QT syndrome 7, LQTS7 Also known as: anemia of chronic inflammation, anemia of inflammation Also known as: Anemia, Idiopathic Autoimmune Hemolytic, Autoimmune Hemolytic Anemia, Idiopathic Autoimmune Hemolytic Anemia, Immune Hemolytic AnemiaSubdivisions: Anemia, Cold Antibody Hemolytic, Anemia, Warm Antibody Hemolytic
Also known as: Folate Deficiency Anemia, Folic Acid Deficiency Anemia, Vitamin B12 Deficiency Anemia Also known as: AS, happy puppet syndrome (obsolete)Subdivisions: No subdivisions found
Also known as: AILD, AITL, angioimmunoblastic lymphadenopathy with dysproteinemia, immunoblastic lymphadenopathy, lymphogranulomatosis X Also known as: irideremia Also known as: Aniridia-Cerebellar Ataxia-Mental Retardation, Aniridia, Partial-Cerebellar Ataxia-Mental Retardation, Aniridia, Partial-Cerebellar Ataxia-Oligophrenia, Gillespie Syndrome Also known as: Black Baine, Malignant Edema, Malignant Pustule, Ragpicker Disease, Siberian Plague, Woolsorter's diseaseSubdivisions: Cutaneous Anthrax, Gastrointestinal Anthrax, Inhalational Anthrax
Also known as: antiphospholipid antibody syndrome, APS, APLS, Hughes syndrome, lupus anticoagulant syndromeSubdivisions: primary antiphospholipid syndrome , secondary antiphospholipid syndrome, catastrophic antiphospholipid syndrome
Also known as: anti-synthetase syndrome, AS syndrome, ASSD Also known as: AT 3, AT III deficiency, thrombophilia, hereditary, due to AT IIISubdivisions: antithrombin III deficiency, classical (type I), AT III variant IlA, AT III variant IlB
Also known as: ABS, craniosynostosis, choanal atresia, radial humeral synostosis, trapezoidocephaly-multiple synostosis syndromeSubdivisions: ABS1, ABS2
Also known as: AP-4 deficiency syndrome, adaptor protein complex 4 (AP-4) deficiency Subdivisions: AP4B1-related HSP or SPG47, AP4M1-related HSP or SPG50, AP4E1-related HSP or SPG51, AP4S1-related HSP or SPG52
Also known as: acrocephalosyndactyly, type I, ACS1 Also known as: ACC, Congenital Defect of the Skull and Scalp, Congenital ulcer of the newborn, Scalp Defect Congenital Also known as: Infantile Sleep ApneaSubdivisions: Central Apnea, Diaphragmatic Apnea, Mixed Apnea, Obstructive Apnea, Upper Airway Apnea
Also known as: low grade mucinous neoplasm of the appendix (LAMN), high grade mucinous neoplasms of the appendix (HAMN), mucinous adenocarcinoma of the appendix, adenocarcinoma of the appendix, signet ring cell cancer of the appendix, goblet cell carcinoid , cystadenocarcinoma, nonmucinous adenocarcinoma, colonic type adenocarcinomaSubdivisions: goblet cell carcinoid , low-grade mucinous neoplasm of the appendix (LAMN), high-grade mucinous neoplasm of the appendix (HAMN), adenocarcinoma: well-differentiated, adenocarcinoma: moderately-differentiated, adenocarcinoma: poorly-differentiated, adenocarcinoma: signet ring cell (SRC)
Subdivisions: Apraxia, Buccofacial, Apraxia, Classic, Apraxia, Constructional, Apraxia, Ideational, Apraxia, Ideokinetic, Apraxia, Ideomotor, Apraxia, Motor, Apraxia, Oculomotor
Also known as: cysts, arachnoidSubdivisions: intracranial arachnoid cysts, spinal arachnoid cysts
Also known as: hyperargininemia, arginase deficiency Also known as: AGAT deficiency, GATM deficiency Also known as: arginino succinase deficiency, argininosuccinate lyase deficiency, argininosuccinate acid lyase deficiency, ASA , ASL deficiency Also known as: aromatic amino acid decarboxylase deficiency, AADC deficiency, AADCD, DOPA decarboxylase deficiency, DDC deficiency Also known as: ATS Also known as: AVMSubdivisions: arteriovenous malformation of the brain, arteriovenous malformation of the spine
Also known as: Aorta Arch Syndrome, Brachiocephalic Ischemia, Idiopathic Arteritis of Takayasu, Martorell Syndrome, Occlusive Thromboaortopathy, Pulseless Disease, Reverse Coarction, Takayasu Disease, Young Female Arteritis Also known as: Bacterial Arthritis, Purulent Arthritis, Pyarthrosis, Pyogenic Arthritis, Septic Arthritis, Suppurative Arthritis Also known as: AMC, arthrogryposisSubdivisions: amyoplasia, distal arthrogryposis, ptergium syndrome
Also known as: acid ceramidase deficiency, Farber disease, Farber lipogranulomatosisSubdivisions: spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME)
Also known as: intrauterine synechiae, uterine synechiae, intrauterine adhesions (IUA) Also known as: Catastrophic Antiphospholipid Syndrome Also known as: AGA, AGU, Aspartylglucosaminidase Deficiency, Glycosylasparaginase DeficiencySubdivisions: allergic bronchopulmonary aspergillosis, allergic Aspergillus sinusitis, chronic pulmonary aspergillosis, cutaneous (skin) aspergillosis , invasive aspergillosis
Also known as: asphyxiating thoracic dysplasia, ATD, Jeune syndrome, thoracic-pelvic-phalangeal dystrophy, asphyxiating thoracic chondrodystrophy, chondroectodermal dysplasia-like syndrome, infantile thoracic dystrophy, Jeune thoracic dystrophySubdivisions: grade I astrocytoma, grade II astrocytoma, grade III astrocytoma, grade IV astrocytoma
Also known as: AT, cerebello-oculocutaneous telangiectasia, immunodeficiency with ataxia telangiectasia, Louis-Bar Syndrome Also known as: AVED, Familial Isolated Vitamin E Deficiency, Isolated Vitamin E Deficiency Also known as: alpha-thalassemia-intellectual disability syndrome, chromosome 16-related, alpha-thalassemia-intellectual disability syndrome, deletion type Also known as: congenital atransferrinemia, hereditary atransferrinemia, hypotransferrinemia Also known as: ASD, Atrioseptal DefectsSubdivisions: Ostium Primum Defect (endocardial cushion defects included), Ostium Secundum Defect, Sinus Venosus
Also known as: Atrioventricular Canal Defects, AVSD, Common Atrioventricular Canal (CAVC) Defect, Endocardial Cushion DefectsSubdivisions: Complete Atrioventricular Septal Defect, Incomplete Atrioventricular Septal Defect, Partial Atrioventricular Septal Defect, Transitional Atrioventricular Septal Defect
Also known as: aHUS, familial hemolytic-uremic syndrome, hereditary hemolytic-uremic syndrome Also known as: auditory de-synchrony , auditory neuropathy (AN), auditory dyssynchrony, ANSD, auditory mismatch Also known as: autoimmune bullous disordersSubdivisions: epidermolysis bullosa acquista, IgA-mediated bullous dermatoses, pemphigoid, pemphigus
Also known as: AIH, autoimmune chronic active hepatitis, lupoid hepatitis Subdivisions: type 1 AIH, type 2 AIH, variant AIH
Also known as: Diabetes Mellitus, Addison's Disease, Myxedema, Multiple Endocrine Deficiency Syndrome, Type II, PGA II, Polyglandular Autoimmune Syndrome, Type II, Polyglandular Deficiency Syndrome, Type II, Schmidt Syndrome Also known as: APS-1, APS type 1, autoimmune-polyendocrine-candidiasis-ectodermal dystrophy syndrome, autoimmune polyendocrinopathy type 1 (APECED), polyglandular autoimmune (PGA) syndrome type 1 Also known as: AIFEC Also known as: episodic ataxia, spinocerebellar ataxia Also known as: AD-HIES, HIES, HIE syndrome, hyperimmunoglobulin E recurrent infection syndrome, Job syndrome, autosomal dominant Also known as: ADPKDSubdivisions: ADPKD1, ADPKD2
Also known as: uromodulin kidney disease (UKD), mucin-1 kidney disease (MKD), familial juvenile hyperuricemic nephropathy, medullary cystic kidney disease, renin associated kidney disease, uromodulin associated kidney disease, medullary cystic kidney disease type 1, medullary cystic kidney disease type 2, ADTKDSubdivisions: autosomal dominant tubulo-interstitial kidney disease due to MUC1 mutations (mucin-1 kidney disease, autosomal dominant tubulo-interstitial kidney disease due to UMOD mutations (uromodulin kidney disease), autosomal dominant tubulo-interstitial kidney disease due to renin mutations
Also known as: AR-HIES, HIES, HIE syndrome, hyperimmunoglobulin E recurrent infection syndrome, Job syndrome, autosomal recessive Also known as: ARHR2, ENPP1 deficiency Also known as: ARPKD, polycystic kidney disease, infantile Also known as: Rieger syndrome, iridogoniodysgenesis with somatic anomalies, Rieger anomaly, Axenfeld syndrome, Axenfeld anomaly 
