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:
expandDeafness (D003638)
Parent Node:
expandEar Diseases (D004427)
Parent Node:
expandHypertelorism (D006972)
Parent Node:
expandLacrimal Duct Obstruction (D007767)
..Starting node
..expandHYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS (OMIM:614187)

       Child Nodes:



 Sister Nodes: 
..expandChitty Hall Baraitser syndrome (C535928)
..expandHYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS (OMIM:614187)
..expandPropping Zerres syndrome (C538052)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:5483
Name:HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS
Definition:
Alternative IDs:
ParentIDs:MESH:D003638|MESH:D004427|MESH:D006972|MESH:D007767
TreeNumbers:C05.116.099.370.231.480/614187 |C05.660.207.231.480/614187 |C09.218.458.341.186/614187 |C09.218/614187 |C10.597.751.418.341.186/614187 |C11.496.456/614187 |C16.131.621.207.231.480/614187 |C23.888.592.763.393.341.186/614187
Synonyms:HPPD
Slim Mappings:Congenital abnormality|Ear-nose-throat disease|Eye disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: 614187
MeSH: 614187
OMIM: 614187;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000365Hearing impairment
3 HP:0000316Hypertelorism
4 HP:0000579Nasolacrimal duct obstructionHP:0040283
5 HP:0004467Preauricular pit
6 HP:0000049Shawl scrotumHP:0040283
Disease Causing ClinVar Variants