Disease #01213 (BD-E1 (brachydactyly type E1 (BD-E1)), OMIM:113300)

Official abbreviation BD-E1
Name brachydactyly type E1 (BD-E1)
OMIM ID 113300
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene HOXD13
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Disease features -
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Individuals

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00080148 - PubMed: Muhn et al.2013 - F ? - (not applicable) - - 0 - - BD-E1 Short stature, short IV metacarpal and distal phalanx of the thumb (I) - ALG6, PRKAR1A 2 1 Francesca Marta Elli
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