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Term ID: | 1382 |
Name: | Bork Stender Schmidt syndrome |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D012174|MESH:D014076|MESH:D059327 |
TreeNumbers: | C05.660.585.262/C536576 |C07.793/C536576 |C11.270.684/C536576 |C11.768.585.658.500/C536576 |C16.131.621.585.262/C536576 |C16.320.290.684/C536576 |
Synonyms: | Bork syndrome |Uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly |
Slim Mappings: | Congenital abnormality|Eye disease|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease |
Reference: |
MedGen: C536576
MeSH: C536576
OMIM:
Genes: | Phenotypes | | Disease Causing ClinVar Variants | |
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