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Human Disease Ontology
Last uploaded:
July 1, 2026
| Id | http://purl.obolibrary.org/obo/DOID_0110974
http://purl.obolibrary.org/obo/DOID_0110974
|
|---|---|
| Preferred Name | brachydactyly type A1B |
| 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.
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| Synonyms |
BDA1B
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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. |
|---|---|
| label | brachydactyly type A1B
|
| prefLabel |
brachydactyly type A1B
brachydactyly type A1B
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| database_cross_reference | MIM:607004
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| notation | DOID:0110974
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| id | DOID:0110974
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| has_obo_namespace | disease_ontology
|
| subClassOf | |
| type | |
| has exact synonym | BDA1B
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