Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
medical condition
genetic disorder |
| gptkbp:affects |
hands
feet |
| gptkbp:canBeNonSyndromic |
true
|
| gptkbp:canBeSyndromic |
true
|
| gptkbp:causedBy |
genetic disorder
|
| gptkbp:diagnosedBy |
physical examination
genetic testing |
| gptkbp:firstDescribed |
early 20th century
|
| https://www.w3.org/2000/01/rdf-schema#label |
brachydactyly
|
| gptkbp:ICD-10_code |
Q74.0
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:MeSH_ID |
D001937
|
| gptkbp:OMIM |
112500
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
gptkb:acrodysostosis
gptkb:Robinow_syndrome |
| gptkbp:subspecies |
gptkb:brachydactyly_type_A
gptkb:brachydactyly_type_B gptkb:brachydactyly_type_C gptkb:brachydactyly_type_D gptkb:brachydactyly_type_E |
| gptkbp:symptom |
short toes
short fingers |
| gptkbp:treatment |
none required for mild cases
surgery for severe cases |
| gptkbp:bfsParent |
gptkb:Albright_hereditary_osteodystrophy
|
| gptkbp:bfsLayer |
6
|