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Neuroscience Information Framework (NIF) Standard Ontology
Last uploaded:
February 10, 2018
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| Preferred Name | brachydactyly type A1B | |
| Synonyms |
BDA1B |
|
| Definitions |
A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has_material_basis_in variation in the chromosome region 5p13.3-p13.2. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0110974 |
|
| alternative label |
BDA1B
|
|
| database_cross_reference |
OMIM:607004
|
|
| definition |
A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has_material_basis_in variation in the chromosome region 5p13.3-p13.2.
|
|
| disease has basis in | ||
| has exact synonym |
BDA1B
|
|
| has_obo_namespace |
disease_ontology
|
|
| id |
DOID:0110974
|
|
| label |
brachydactyly type A1B
|
|
| notation |
DOID:0110974
|
|
| note |
A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has_material_basis_in variation in the chromosome region 5p13.3-p13.2.
|
|
| preferred label |
brachydactyly type A1B
|
|
| prefLabel |
brachydactyly type A1B
|
|
| subClassOf |
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