loading...| Preferred Name | brachydactyly type A2 | |
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| Definitions |
A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0110965 |
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| definition |
A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12. |
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brachydactyly type A2 |
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| prefixIRI |
DOID:0110965 |
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| prefLabel |
brachydactyly type A2 |
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