Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandDown Syndrome (D004314)
Parent Node:
expandEpilepsy (D004827)
..Starting node
..expandBETA-AMINO ACIDS, RENAL TRANSPORT OF (OMIM:109660)

       Child Nodes:



 Sister Nodes: 
..expandAICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency (C563876)
..expandAlopecia epilepsy oligophrenia syndrome of Moynahan (C537052)
..expandAlopecia, epilepsy, pyorrhea, mental subnormality (C537057)
..expandAmish Infantile Epilepsy Syndrome (C563799)
..expandArthrogryposis epileptic seizures migrational brain disorder (C537442)
..expandBattaglia Neri syndrome (C537662)
..expandBETA-AMINO ACIDS, RENAL TRANSPORT OF (OMIM:109660)
..expandBorjeson-Forssman-Lehmann syndrome (C536575)
..expandBoudhina Yedes Khiari syndrome (C537939)
..expandCHROMOSOME 7q11.23 DELETION SYNDROME, DISTAL, 1.2-MB (OMIM:613729)
..expandCoffin syndrome 1 (C536435)
..expandDevelopmental Delay, Epilepsy, and Neonatal Diabetes (C565253)
..expandEpilepsies, Myoclonic (D004831) Child26
..expandEpilepsies, Partial (D004828) Child26
..expandEpilepsy occipital calcifications (C535496)
..expandEpilepsy telangiectasia (C535497)
..expandEpilepsy, Benign Neonatal (D020936) Child13
..expandEpilepsy, Benign Neonatal, 1, And/Or Myokymia (C567743)
..expandEpilepsy, Female-Restricted, with Mental Retardation (C564715)
..expandEpilepsy, Generalized (D004829) Child27
..expandEPILEPSY, HOT WATER, 1 (OMIM:613339)
..expandEPILEPSY, HOT WATER, 2 (OMIM:613340)
..expandEpilepsy, Photogenic, with Spastic Diplegia and Mental Retardation (C565587)
..expandEpilepsy, Post-Traumatic (D004834)
..expandEpilepsy, Reflex (D020195)
..expandEpilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders (C564505)
..expandFryns-Aftimos Syndrome (C565258)
..expandGurrieri Sammito Bellussi syndrome (C537625)
..expandHETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT (OMIM:300049)
..expandHyperekplexia and Epilepsy (C564474)
..expandKifafa seizure disorder (C537708)
..expandKohlschutter Tonz syndrome (C537213)
..expandKuzniecky syndrome (C538091)
..expandLandau-Kleffner Syndrome (D018887)
..expandLennox Gastaut Syndrome (D065768) Child1
..expandMEHMO syndrome (C537451)
..expandMENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
..expandMental Retardation, Microcephaly, Epilepsy, And Coarse Face (C563342)
..expandMental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..expandMental Retardation, X-Linked, with Epilepsy (C564516)
..expandPolyhydramnios, Megalencephaly, And Symptomatic Epilepsy (C567020)
..expandPyridoxine-dependent epilepsy (C536254)
..expandRamon Syndrome (C535285)
..expandRetinal Degeneration and Epilepsy (C564847)
..expandRud Syndrome (C535878)
..expandSandhaus Ben-Ami syndrome (C537233)
..expandSeizures (D012640) Child40
..expandSeizures, Febrile (D003294) Child21
..expandSpinocerebellar Ataxia with Epilepsy (C564395)
..expandStatus Epilepticus (D013226) Child1
..expandWittwer syndrome (C536737)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:1234
Name:BETA-AMINO ACIDS, RENAL TRANSPORT OF
Definition:
Alternative IDs:
ParentIDs:MESH:D004314|MESH:D004827
TreeNumbers:C10.228.140.490/109660 |C10.597.606.643.220/109660 |C16.131.077.327/109660 |C16.131.260.260/109660 |C16.320.180.260/109660
Synonyms:AABT |TAURINE RENAL REABSORPTION
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Nervous system disease
Reference: MedGen: 109660
MeSH: 109660
OMIM: 109660;

Genes:
Phenotypes
Disease Causing ClinVar Variants