Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Disease ID: disease_node_20223
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| Dbxref | MIM:619184 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID |
| Synonyms | SSFSC2 |
| Doid Label | short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 |
| Doid Description | A syndrome characterized by reduced growth, thin and short long bones, distinctive facial dysmorphism, dental and skeletal abnormalities, and absence of developmental delay or intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCUBE3 gene on chromosome 6p21.31. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20223 |
| Doid Id | DOID_0112358 |
| Label | Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)