Hajdu-Cheney syndrome
Information
- Disease name
- Hajdu-Cheney syndrome
- Disease ID
- DOID:2736
- Description
- "A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in the NOTCH2 gene on chromosome 1p12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21378985, url:https\://www.ncbi.nlm.nih.gov/pubmed/21378989, url:https\://www.ncbi.nlm.nih.gov/pubmed/9714016]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0080001
- Cross Reference ID (Disease Ontology)
- GARD:508
- Cross Reference ID (Disease Ontology)
- MESH:D030981
- Cross Reference ID (Disease Ontology)
- MESH:D031845
- Cross Reference ID (Disease Ontology)
- MIM:102500
- Cross Reference ID (Disease Ontology)
- NCI:C35545
- Cross Reference ID (Disease Ontology)
- NCI:C84745
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:63122002
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0917715
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0917990
- Exact Synonym (Disease Ontology)
- acroosteolysis with osteoporosis and changes in skull and mandible
- Exact Synonym (Disease Ontology)
- arthrodentoosteodysplasia
- Exact Synonym (Disease Ontology)
- Cheney syndrome
- Exact Synonym (Disease Ontology)
- HJCYS
- Exact Synonym (Disease Ontology)
- serpentine fibula-polycystic kidney syndrome
- Exact Synonym (Disease Ontology)
- SFPKS
- MedGen concept unique identifier (MedGen Concept name)
- C0917715
- MedGen unique identifier (MedGen Concept name)
- 182961
- MeSH unique ID (MeSH (Medical Subject Headings))
- D031845