Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
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Congenital, Hereditary, and Neonatal Diseases and Abnormalities (D009358)
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Congenital Abnormalities (D000013)

       Child Nodes:
........expandAbnormalities, Drug-Induced (D000014) Child8
........expandAbnormalities, Multiple (D000015) Child715
........expandAbnormalities, Radiation-Induced (D000016)
........expandAbnormalities, Severe Teratoid (D009008) Child6
........expandAbsent breasts and nipples (C535565)
........expandAccessory pancreas (C536003)
........expandAICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency (C563876)
........expandAicardi Syndrome (D058540) Child1
........expandArrhinia (C537438)
........expandAtlanto-Axial Fusion (C538196)
........expandAural Atresia, Congenital (C564321)
........expandBile and Pancreatic Ducts, Complete Absence of (C564298)
........expandBrain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And (C564519)
........expandCardiovascular Abnormalities (D018376) Child331
........expandCaudal Duplication Anomaly (C564315)
........expandChromosome Disorders (D025063) Child160
........expandCongenital Microtia (D065817) Child12
........expandCrane-Heise syndrome (C536452)
........expandCryptotia, Familial (C565140)
........expandDeal Barratt Dillon syndrome (C538206)
........expandDigestive System Abnormalities (D004065) Child78
........expandEye Abnormalities (D005124) Child208
........expandGallbladder, Agenesis Of (C562564)
........expandHereditary renal agenesis (C536482)
........expandHernias, Diaphragmatic, Congenital (D065630) Child7
........expandHydrocephalus, Skeletal Anomalies, and Mental Disturbance (C563413)
........expandLaryngeal cleft (C537875)
........expandLaryngeal Web, Familial (C563636)
........expandLymphatic Abnormalities (D044148) Child10
........expandMullerian aplasia (C537371) Child1
........expandMusculoskeletal Abnormalities (D009139) Child1165
........expandNasal Bones, Absence of (C562753)
........expandNervous System Malformations (D009421) Child567
........expandPancreas agenesis, dorsal (C538109)
........expandPatterson Stevenson syndrome (C536311) Child1
........expandRenal and Mullerian Duct Hypoplasia (C564853)
........expandRespiratory System Abnormalities (D015619) Child27
........expandRhiny (C566708)
........expandSaito Kuba Tsuruta syndrome (C537226)
........expandSchlegelberger Grote syndrome (C536635)
........expandSitus Inversus (D012857) Child19
........expandSkin Abnormalities (D012868) Child358
........expandSprengel deformity (C535802)
........expandStomatognathic System Abnormalities (D018640) Child329
........expandStridor, Congenital (C563163)
........expandThyroid Dysgenesis (D050033) Child3
........expandUrogenital Abnormalities (D014564) Child196
........expandVagina, absence of (C536523)
........expandVertebral fusion posterior lumbosacral blepharoptosis (C536344)



 Sister Nodes: 
..expandCongenital Abnormalities (D000013) Child2760
..expandFetal Diseases (D005315) Child51
..expandGenetic Diseases, Inborn (D030342) Child3008
..expandHemorrhagic shock and encephalopathy syndrome (C537254)
..expandInfant, Newborn, Diseases (D007232) Child225
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:2590
Name:Congenital Abnormalities
Definition:Malformations of organs or body parts during development in utero.
Alternative IDs:
ParentIDs:MESH:D009358
TreeNumbers:C16.131
Synonyms:Abnormalities, Congenital |Abnormality, Congenital |Birth Defect |Birth Defects |Congenital Abnormality |Congenital Defect |Congenital Defects |Defect, Birth |Defect, Congenital |Defects, Birth |Defects, Congenital |Deformities |Deformity
Slim Mappings:Congenital abnormality
Reference: MedGen: D000013
MeSH: D000013
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants