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Metadata
ID DOID:0110975
Name brachydactyly type B2
Definition A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22.
https://www.ncbi.nlm.nih.gov/pubmed/17668388
Xrefs

ICD10CM:Q73.8

OMIM:611377

ORDO:140908

Subsets

DO_rare_slim

Synonyms

BDB2 [EXACT]

Parent Relationships

is_a brachydactyly

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