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:
expandAbnormalities, Multiple (D000015)
Parent Node:
expandEye Abnormalities (D005124)
Parent Node:
expandHearing Loss, Sensorineural (D006319)
Parent Node:
expandHeart Septal Defects, Atrial (D006344)
..Starting node
..expandAxenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss (C537789)

       Child Nodes:



 Sister Nodes: 
..expand3C syndrome (C535313)
..expandAtrial Septal Defect 1 (C566239)
..expandAtrial septal defect 2 (C538263)
..expandAtrial Septal Defect 3 (C563540)
..expandAtrial Septal Defect 4 (C566963)
..expandAtrial Septal Defect 5 (C567561)
..expandAtrial Septal Defect 6 (C567764)
..expandAtrial Septal Defect Ostium Primum (C548006)
..expandAtrial Septal Defect Sinus Venosus (C548009)
..expandAtrial Septal Defect with Atrioventricular Conduction Defects (C566238) Child1
..expandAtrial Septal Defect, Primum Type (C566240)
..expandAtrial Septal Defect, Secundum Type (C566241)
..expandAtrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects (C566351)
..expandAxenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss (C537789)
..expandCiuffo Syndrome (C566733)
..expandDursun Syndrome (C567804)
..expandForamen Ovale, Patent (D054092)
..expandHolt-Oram syndrome (C535326)
..expandIrons Bhan syndrome (C535539)
..expandLutembacher Syndrome (D008185)
..expandLymphedema, Cardiac Septal Defects, And Characteristic Facies (C567398)
..expandOculootofacial Dysplasia (C563682)
..expandRadial Ray Deficiency, X-Linked (C564523)
..expandRapadilino syndrome (C535288)
..expandTel Hashomer camptodactyly syndrome (C536953)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:1105
Name:Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss
Definition:
Alternative IDs:
ParentIDs:MESH:D000015|MESH:D005124|MESH:D006319|MESH:D006344
TreeNumbers:C09.218.458.341.887/C537789 |C10.597.751.418.341.887/C537789 |C11.250/C537789 |C14.240.400.560.375/C537789 |C14.280.400.560.375/C537789 |C16.131.077/C537789 |C16.131.240.400.560.375/C537789 |C16.131.384/C537789 |C23.888.592.763.393.341.887/C537789
Synonyms:Axenfeld-Rieger anomaly with atrial septal defect and sensorineural hearing loss
Slim Mappings:Cardiovascular disease|Congenital abnormality|Ear-nose-throat disease|Eye disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C537789
MeSH: C537789
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants