| Metadata | |
|---|---|
| ID | DOID:9467 |
| Name | nail-patella syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/9590287, https://www.ncbi.nlm.nih.gov/pubmed/15416035 |
| Xrefs |
SNOMEDCT_US_2023_03_01:22199006 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Fong disease [EXACT] hereditary onychoostedysplasia [EXACT] iliac horn syndrome [EXACT] nail patella syndrome [EXACT] Turner-Kiser syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
disease has location some (nail or patella) has material basis in some autosomal dominant inheritance |