Human Disease Ontology

Last uploaded: March 29, 2024
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Preferred Name

hypochondroplasia
Synonyms
Definitions

An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism.
ID

http://purl.obolibrary.org/obo/DOID_0080041
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
definition

An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism.
has material basis in

http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace

disease_ontology
id

DOID:0080041
in_subset

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

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

hypochondroplasia
notation

DOID:0080041
prefLabel

hypochondroplasia
subClassOf

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

http://purl.obolibrary.org/obo/DOID_0050736
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http://purl.obolibrary.org/obo/DOID_0080041 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_0080041 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_0080041 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0080041 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_0080041 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0007793 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007793 MONDO LOOM
http://www.gamuts.net/entity#hypochondroplasia GAMUTS LOOM
http://purl.bioontology.org/ontology/RCTV2/PG41000 RCTV2 LOOM
http://purl.jp/bio/4/id/200906074978999972 IOBC LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118697 NCIT LOOM
http://purl.bioontology.org/ontology/MEDDRA/10020967 MEDDRA LOOM
http://purl.bioontology.org/ontology/RCD/PG410 RCD LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/205468002 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/MESH/C562937 MESH LOOM
http://www.orpha.net/ORDO/Orphanet_429 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C562937 RH-MESH LOOM
http://purl.org/skeletome/bonedysplasia#Hypochondroplasia BDO LOOM
http://purl.obolibrary.org/obo/MONDO_0007793 DOVES LOOM
http://purl.obolibrary.org/obo/DOID_14714 CLO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0410529 OCHV LOOM
http://purl.obolibrary.org/obo/NCIT_C118697 BERO LOOM
http://purl.obolibrary.org/obo/OMIM_146000 CCO LOOM
http://purl.obolibrary.org/obo/DOID_0080041 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0080041 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0080041 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0080041 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0080041 FNS-H LOOM
http://identifiers.org/omim/146000 REXO LOOM
http://identifiers.org/omim/146000 GEXO LOOM
http://identifiers.org/omim/146000 RETO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_161 HRDO LOOM
http://purl.bioontology.org/ontology/OMIM/146000 OMIM LOOM
http://www.gamuts.net/entity#hypochondroplasia GAMUTS REST