brachydactyly type B1

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Information
Disease name
brachydactyly type B1
Disease ID
DOID:0110969
Description
"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." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10700182, url:https\://www.ncbi.nlm.nih.gov/pubmed/9973295]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
Disase is a (Disease Ontology)
DOID:0050581
Cross Reference ID (Disease Ontology)
MIM:113000
Exact Synonym (Disease Ontology)
BDB1