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Human Health Exposure Analysis Resource
Last uploaded:
July 19, 2024
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| Preferred Name | achondrogenesis type II | |
| Synonyms |
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| 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]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0080056 |
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| comment |
OMIM mapping confirmed by DO. [SN].
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| database_cross_reference |
MESH:C536017 GARD:8713 MIM:200610
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|
| 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. OMIM mapping confirmed by DO. [SN].
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| has material basis in | ||
| has_obo_namespace |
disease_ontology
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| id |
DOID:0080056
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| in_subset | ||
| label |
achondrogenesis type II
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| notation |
DOID:0080056
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| note |
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].
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| preferred label |
achondrogenesis type II
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| prefLabel |
achondrogenesis type II
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| subClassOf |
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