brachydactyly type E1
brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has material basis in heterozygous mutation in the HOXD13 gene on chromosome 2q31
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brachydactyly type E1
Summary
brachydactyly type E1 is a developmental defect during embryogenesis[1].
Key Facts
- brachydactyly type E1's instance of is recorded as developmental defect during embryogenesis[2].
- brachydactyly type E1's instance of is recorded as rare disease[3].
- brachydactyly type E1's instance of is recorded as class of disease[4].
- brachydactyly type E1 is a type of brachydactyly[5].
- brachydactyly type E1 is a type of brachydactyly type E[6].
- brachydactyly type E1's genetic association is recorded as HOXD13[7].
- brachydactyly type E1's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110972[8].
- brachydactyly type E1's exact match is recorded as http://identifiers.org/doid/DOID:0110972[9].
- brachydactyly type E1's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_93387[10].
- brachydactyly type E1's on focus list of Wikimedia project is recorded as WikiProject Medicine[11].