Eiken syndrome
Information
- Disease name
- Eiken syndrome
- Disease ID
- DOID:0111732
- Description
- "A bone development disease characterized by severely delayed ossification primarily of the epiphyses, pelvis, hands, and feet and abnormal bone modeling of the hands and feet that has_material_basis_in homozygous or compound heterozygous mutation in the PTHR1 gene on chromosome 3p21.31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/6734674]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0080006
- Cross Reference ID (Disease Ontology)
- MESH:C564010
- Cross Reference ID (Disease Ontology)
- MIM:600002
- Cross Reference ID (Disease Ontology)
- ORDO:79106
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:720863002
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1838779
- Exact Synonym (Disease Ontology)
- bone modeling defect of hands and feet
- Exact Synonym (Disease Ontology)
- Eiken skeletal dysplasia
- OrphaNumber from OrphaNet (Orphanet)
- 79106