Human Disease Ontology

Last uploaded: March 29, 2024
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Preferred Name

pseudoachondroplasia
Synonyms

pseudoachondroplastic dysplasia
Definitions

OMIM mapping confirmed by DO. [SN].
ID

http://purl.obolibrary.org/obo/DOID_0080047
comment

OMIM mapping confirmed by DO. [SN].
database_cross_reference

MESH:C535819

OMIM:177170

GARD:4540
definition

An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism.
has exact synonym

pseudoachondroplastic dysplasia

SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC
has material basis in

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

DOID:14800
has_obo_namespace

disease_ontology
id

DOID:0080047
in_subset

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

pseudoachondroplasia
notation

DOID:0080047
prefLabel

pseudoachondroplasia
subClassOf

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

http://purl.obolibrary.org/obo/DOID_0050736
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0080047 GAMUTS SAME_URI
http://purl.obolibrary.org/obo/DOID_0080047 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_0080047 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0080047 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_0080047 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008322 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008322 MONDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0410538 OCHV LOOM
http://www.limics.org/hrdo/rdfns#pat_id_2676 HRDO LOOM
http://identifiers.org/omim/177170 REXO LOOM
http://identifiers.org/omim/177170 GEXO LOOM
http://identifiers.org/omim/177170 RETO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118635 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C535819 RH-MESH LOOM
http://purl.jp/bio/4/id/200906090582243072 IOBC LOOM
http://purl.org/skeletome/bonedysplasia#Pseudoachondroplasia BDO LOOM
http://purl.obolibrary.org/obo/OMIM_177170 CCO LOOM
http://www.gamuts.net/entity#pseudoachondroplasia GAMUTS LOOM
http://purl.bioontology.org/ontology/OMIM/177170 OMIM LOOM
http://purl.obolibrary.org/obo/MONDO_0008322 DOVES LOOM
http://purl.bioontology.org/ontology/RCD/PG446 RCD LOOM
http://www.orpha.net/ORDO/Orphanet_750 ORDO LOOM
http://purl.bioontology.org/ontology/RCTV2/PG44600 RCTV2 LOOM
http://purl.obolibrary.org/obo/DOID_0080047 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0080047 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0080047 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0080047 FNS-H LOOM
http://purl.bioontology.org/ontology/MESH/C535819 MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C118635 BERO LOOM
http://www.gamuts.net/entity#pseudoachondroplastic_dysplasia GAMUTS REST
http://www.gamuts.net/entity#pseudoachondroplasia GAMUTS REST