Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Term ID:4545
Name:Genee-Wiedemann syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D000015|MESH:D008342|MESH:D008844|MESH:D017880
TreeNumbers:C05.116.099.370.231.576/C537680 |C05.500.460.457/C537680 |C05.660.207.231.576/C537680 |C05.660.207.540.460.457/C537680 |C05.660.585/C537680 |C07.320.440.457/C537680 |C07.650.500.460.457/C537680 |C16.131.077/C537680 |C16.131.621.207.231.576/C537680 |C16.131.621.20
Synonyms:Genee-Wiedemann acrofacial dysostosis |Miller syndrome |POADS syndrome |Postaxial Acrofacial Dysostosis |Postaxial Acrofacial Dysostosis (POADS) |Postaxial acrofacial dysostosis (POADS) syndrome |Wildervanck-Smith syndrome
Slim Mappings:Congenital abnormality|Mouth disease|Musculoskeletal disease
Reference: MedGen: C537680
MeSH: C537680
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants