brachydactyly type B1

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Summary

Literature (0)

DOID:0110969 - brachydactyly type B1

Disease Ontology Definition:A brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has_material_basis_in heterozygous mutation in the ROR2 gene on chromosome 9q22.

Synonyms: BDB1

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ror2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007220 - brachydactyly type B1

MONDO:0007220 - brachydactyly type B1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): brachydactyly (is_a)