loading...| Preferred Name |
brachydactyly type A6 |
| Synonyms |
brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0110968 |
| database_cross_reference |
SNOMEDCT_US_2022_09_01:715722003 ORDO:93382 GARD:983 UMLS_CUI:C1862130 OMIM:112910 MESH:C537092 |
| 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. |
| has exact synonym |
brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities BDA6 Osebold-Remondini syndrome |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0110968 |
| in_subset | |
| label |
brachydactyly type A6 |
| notation |
DOID:0110968 |
| prefLabel |
brachydactyly type A6 |
| subClassOf |