Jump to:
loading...| Preferred Name | achondrogenesis type II | |
| Synonyms |
|
|
| Definitions |
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. OMIM mapping confirmed by DO. [SN]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0080056 |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| database_cross_reference |
MESH:C536017 GARD:8713 MIM:200610 |
|
| definition |
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. |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0080056 |
|
| in_subset | ||
| label |
achondrogenesis type II |
|
| notation |
DOID:0080056 |
|
| prefLabel |
achondrogenesis type II |
|
| subClassOf |
Create mapping