loading...| Preferred Name |
nail-patella syndrome |
| Synonyms |
nail patella syndrome |
| Definitions |
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]. |
| ID |
http://purl.obolibrary.org/obo/DOID_9467 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
MEDDRA:10063431 GARD:7160 ICD10CM:Q87.2 OMIM:161200 UMLS_CUI:C0027341 ORDO:2614 NCI:C75120 SNOMEDCT_US_2022_09_01:22199006 MESH:D009261 |
| definition |
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. |
| has exact synonym |
nail patella syndrome Fong disease hereditary onychoostedysplasia iliac horn syndrome Turner-Kiser syndrome |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:9467 |
| in_subset | |
| label |
nail-patella syndrome |
| notation |
DOID:9467 |
| prefLabel |
nail-patella syndrome |
| subClassOf |