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:
expandLoeys-Dietz Syndrome (D055947)
..Starting node
..expandAscending aortic aneurysm, hypertelorism, bifid uvula, cleft palate, and arterial tortuosity (C531732)

       Child Nodes:



 Sister Nodes: 
..expandAortic aneurysm, familial thoracic 3 (C537783) Child1
..expandAscending aortic aneurysm, hypertelorism, bifid uvula, cleft palate, and arterial tortuosity (C531732)
..expandLoeys-Dietz Syndrome, Type 1b (C567181)
..expandLoeys-Dietz Syndrome, Type 2A (C567156)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:934
Name:Ascending aortic aneurysm, hypertelorism, bifid uvula, cleft palate, and arterial tortuosity
Definition:
Alternative IDs:
ParentIDs:MESH:D055947
TreeNumbers:C05.660.207.532/C531732 |C14.907.055.050.362/C531732 |C14.907.055.239.587/C531732 |C14.907.109.139.587/C531732 |C16.131.077.537/C531732 |C16.320.510/C531732
Synonyms:
Slim Mappings:Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease
Reference: MedGen: C531732
MeSH: C531732
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants