chondrodysplasia Blomstrand type
Information
- Disease name
- chondrodysplasia Blomstrand type
- Disease ID
- DOID:0060387
- Description
- "An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the PTH1R gene." [url:https\://rarediseases.info.nih.gov/diseases/914/chondrodysplasia-blomstrand-type]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:2256
- Cross Reference ID (Disease Ontology)
- GARD:914
- Cross Reference ID (Disease Ontology)
- MESH:C537914
- Cross Reference ID (Disease Ontology)
- MIM:215045
- Cross Reference ID (Disease Ontology)
- NCI:C131420
- Cross Reference ID (Disease Ontology)
- ORDO:50945
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1859148
- Exact Synonym (Disease Ontology)
- Blomstrand lethal chondrodysplasia