Fanconi Anemia Complementation Group S
Disease ID: disease_node_15305
Connections displayed (default: 10).
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| Dbxref | MIM:617883 |
|---|---|
| Subclassof | DOID_0050737, DOID_13636 |
| Data Source | DOID |
| Doid Label | Fanconi anemia complementation group S |
| Doid Description | A Fanconi anemia characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features that has_material_basis_in compound heterozygous or homozygous mutation in the BRCA1 gene on chromosome 17q21. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15305 |
| Doid Id | DOID_0060979 |
| Label | Fanconi Anemia Complementation Group S |
- Outgoing r'ship
SUBCLASS_OFto/from Fanconi Anemia(ID:disease_node_3172) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)