loading...| Preferred Name | brachydactyly type A2 | |
| Synonyms |
BDA2 Mohr-Wriedt type brachydactyly brachymesophalangy II |
|
| 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. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0110965 |
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| alternative label |
BDA2 Mohr-Wriedt type brachydactyly brachymesophalangy II |
|
| database_cross_reference |
SNOMEDCT_US_2023_03_01:720569006 UMLS_CUI:C1832702 MESH:C537089 GARD:979 MIM:112600 ORDO:93396 |
|
| 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. |
|
| has exact synonym |
BDA2 Mohr-Wriedt type brachydactyly brachymesophalangy II |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0110965 |
|
| in_subset | ||
| label |
brachydactyly type A2 |
|
| notation |
DOID:0110965 |
|
| note |
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. |
|
| preferred label |
brachydactyly type A2 |
|
| prefLabel |
brachydactyly type A2 |
|
| subClassOf |