nail-patella syndrome
Information
- Disease name
- nail-patella syndrome
- Disease ID
- DOID:9467
- 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." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15416035, url:https\://www.ncbi.nlm.nih.gov/pubmed/9590287]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:7160
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q87.2
- Cross Reference ID (Disease Ontology)
- MEDDRA:10063431
- Cross Reference ID (Disease Ontology)
- MESH:D009261
- Cross Reference ID (Disease Ontology)
- MIM:161200
- Cross Reference ID (Disease Ontology)
- NCI:C75120
- Cross Reference ID (Disease Ontology)
- ORDO:2614
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:22199006
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0027341
- Exact Synonym (Disease Ontology)
- Fong disease
- Exact Synonym (Disease Ontology)
- hereditary onychoostedysplasia
- Exact Synonym (Disease Ontology)
- iliac horn syndrome
- Exact Synonym (Disease Ontology)
- nail patella syndrome
- Exact Synonym (Disease Ontology)
- Turner-Kiser syndrome
- OrphaNumber from OrphaNet (Orphanet)
- 2614
- MeSH unique ID (MeSH (Medical Subject Headings))
- D009261