Saul-Wilson Syndrome
Disease ID: disease_node_15700
Connections displayed (default: 10).
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| Dbxref | MIM:618150, ORDO:85172, SNOMEDCT_US_2023_03_01:389197004, UMLS_CUI:C1300285 |
|---|---|
| Subclassof | DOID_0050736, DOID_0080006 |
| Data Source | DOID |
| Synonyms | SWILS, microcephalic osteodysplastic dysplasia, Saul-Wilson type |
| Doid Label | Saul-Wilson syndrome |
| Doid Description | A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has_material_basis_in heterozygous mutation in the COG4 gene on chromosome 16q22.1. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_15700 |
| Doid Id | DOID_0111673 |
| Label | Saul-Wilson Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Bone Development Disease(ID:disease_node_15615) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)