Search Ontology:
Human Disease
brachydactyly type A6
- Term ID
- DOID:0110968
- Synonyms
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- BDA6
- brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities
- Osebold-Remondini syndrome
- Definition
- A brachydactyly characterized by brachymesophalangy with mesomelic short limbs, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, and carpal and tarsal coalitions. https://www.ncbi.nlm.nih.gov/pubmed/4073129
- References
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- GARD:983
- MESH:C537092
- MIM:112910
- ORDO:93382
- SNOMEDCT_US_2023_03_01:715722003
- UMLS_CUI:C1862130
- Ontology
- Human Disease ( DOID:0110968 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models