loading...| Preferred Name | brachydactyly type A2 | |
| Synonyms |
brachydactyly, type A2 Brachymesophalangy type 2 Brachymesophalangy 2 Mohr-Wriedt type brachydactyly brachymesophalangy II brachydactyly, Mohr-Wriedt type BDA2 |
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| Definitions |
Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0007216 |
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| database_cross_reference |
UMLS:C1832702 SCTID:720569006 Orphanet:93396 OMIM:112600 MEDGEN:318690 icd11.foundation:594491464 DOID:0110965 MESH:C537089 GARD:979 |
|
| definition |
Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger. |
|
| has_exact_synonym |
Mohr-Wriedt type brachydactyly brachymesophalangy II brachydactyly, Mohr-Wriedt type BDA2 |
|
| has_related_synonym |
brachydactyly, type A2 Brachymesophalangy type 2 Brachymesophalangy 2 |
|
| id |
MONDO:0007216 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
brachydactyly type A2 |
|
| notation |
MONDO:0007216 |
|
| preferred label |
brachydactyly type A2 |
|
| prefLabel |
brachydactyly type A2 |
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| see also |
https://rarediseases.info.nih.gov/diseases/989/brachymesophalangy-type-2 https://rarediseases.info.nih.gov/diseases/979/brachydactyly-type-a2 |
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| skos_exactMatch |
http://purl.obolibrary.org/obo/DOID_0110965 http://identifiers.org/snomedct/720569006 http://identifiers.org/medgen/318690 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/594491464 http://purl.obolibrary.org/obo/Orphanet_93396 |
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| subClassOf |