Human Disease Ontology

Last uploaded: November 1, 2024
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Preferred Name

achondrogenesis
Synonyms
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

MESH:C579878

MIM:PS200600

GARD:2882
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://purl.obolibrary.org/obo/DOID_0080043 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_0080043 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0080043 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_0080043 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_0080043 MIDO SAME_URI
http://purl.obolibrary.org/obo/DOID_0080043 FNS-H SAME_URI
http://purl.bioontology.org/ontology/MESH/C579878 MESH LOOM
http://purl.bioontology.org/ontology/ICD10/Q77.0 ICD10 LOOM
rgo:06272 GAMUTS LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84527 NCIT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0001079 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C579878 RH-MESH LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q77.0 ICD10CM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Achondrogenesis CSEO LOOM
http://purl.bioontology.org/ontology/RCTV2/PG4B000 RCTV2 LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/2391001 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/RCD/PG4B0 RCD LOOM
http://purl.obolibrary.org/obo/MONDO_0019648 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0019648 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0019648 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0019648 DOVES LOOM
http://www.orpha.net/ORDO/Orphanet_932 ORDO LOOM
http://purl.obolibrary.org/obo/DOID_0080043 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0080043 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0080043 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0080043 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0080043 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_0080043 FNS-H LOOM
http://purl.obolibrary.org/obo/NCIT_C84527 BERO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10066122 MEDDRA LOOM
http://www.limics.org/hrdo/rdfns#pat_id_1256 HRDO LOOM
http://www.gamuts.net/entity#achondrogenesis GAMUTS REST