Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

achondrogenesis

Definitions

An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disproportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period.

ID

http://purl.obolibrary.org/obo/DOID_0080043

database_cross_reference

GARD:2882

OMIM:PS200600

MESH:C579878

definition

An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disproportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period.

has_obo_namespace

disease_ontology

id

DOID:0080043

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

achondrogenesis

notation

DOID:0080043

prefLabel

achondrogenesis

subClassOf

http://purl.obolibrary.org/obo/DOID_2256

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http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84527 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/MESH/C579878 Medical Subject Headings LOOM
http://purl.bmicc.cn/ontology/ICD11CN/LD24.50 International Classification of Diseases, 11th Edition, China LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q77.0 International Classification of Diseases, Version 10 - Clinical Modification LOOM
http://purl.bioontology.org/ontology/ICD10/Q77.0 International Classification of Diseases, Version 10 LOOM