| General Information | |||
|---|---|---|---|
| Term | brachydactyly type B2 | ID (Ontology) | DOID:0110975 (Human Disease) |
| Definition | A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22. | ||
| Also Known As | "BDB2" | ||
| Comment | |||
| Links to External Ontologies | |||
| DO.org | |||
| Annotations | |||
| Records annotated with this term OR any of its CHILD TERMS | |||
|
Choose a record type to view annotations for this term and its child terms. Direct annotations and full annotation statements below also provide HitList buttons. No relevant records available |
|||
| Direct annotations: records annotated with this exact term (child terms are NOT included) | |||
| There are no annotations using this term. | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
|||
|
No relevant statements available
|
|||
|
||||||
dysostosis |__brachydactyly |__brachydactyly type B2 |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a | brachydactyly | ||
| Part of | |||
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|||
| Secondary IDs | |||
|
|
|||
External Crossreferences & Linkouts
|
|||
|
ICD10CM:Q73.8 MIM:611377 ORDO:140908 |
|||