achondrogenesis type II
Information
- Disease name
- achondrogenesis type II
- Disease ID
- DOID:0080056
- Description
- "An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis." [url:http\://en.wikipedia.org/wiki/Achondrogenesis_type_2, url:http\://ghr.nlm.nih.gov/condition/achondrogenesis, url:http\://www.healthline.com/galecontent/achondrogenesis]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes | Mutation | Description | Source | Links |
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- Disase is a (Disease Ontology)
- DOID:0080043
- Cross Reference ID (Disease Ontology)
- GARD:8713
- Cross Reference ID (Disease Ontology)
- MESH:C536017
- Cross Reference ID (Disease Ontology)
- MIM:200610