Nail-Patella Syndrome
Disease ID: disease_node_5399
Connections displayed (default: 10).
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| Dbxref | GARD:7160, ICD10CM:Q87.2, MEDDRA:10063431, MESH:D009261, MIM:161200, NCI:C75120, ORDO:2614, SNOMEDCT_US_2023_03_01:22199006, UMLS_CUI:C0027341 |
|---|---|
| Subclassof | DOID_0050736, DOID_225 |
| Data Source | DOID, MESH |
| Synonyms | Fong disease, Turner-Kiser syndrome, hereditary onychoostedysplasia, iliac horn syndrome, nail patella syndrome |
| Mesh Id | D009261 |
| Mesh Label | Nail-Patella Syndrome |
| Mesh Subclassof | D030342, D000015, D007592, D009260 |
| Doid Label | nail-patella syndrome |
| Doid Description | A syndrome characterized by nail dysplasia and absent or hypoplastic patellae that has_material_basis_in heterozygous mutation in the LMX1B gene on chromosome 9q33.3. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_5399 |
| Doid Id | DOID_9467 |
| Label | Nail-Patella Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)