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Neuroscience Information Framework (NIF) Standard Ontology
Last uploaded:
February 10, 2018
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| Preferred Name | hypochondroplasia | |
| Synonyms |
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| Definitions |
An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0080041 |
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| database_cross_reference |
ICD10CM:Q77.4 OMIM:146000 UMLS_CUI:C0410529 MESH:C562937 NCI:C118697 SNOMEDCT_US_2023_03_01:205468002 GARD:6724 ORDO:429
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| definition |
An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism.
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| has material basis in | ||
| has_obo_namespace |
disease_ontology
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| id |
DOID:0080041
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| in_subset | ||
| label |
hypochondroplasia
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|
| notation |
DOID:0080041
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| note |
An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism.
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| preferred label |
hypochondroplasia
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|
| prefLabel |
hypochondroplasia
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| subClassOf |
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