Human Disease Ontology

Last uploaded: March 29, 2024
Preferred Name

multiple epiphyseal dysplasia

Synonyms

polyepiphyseal dysplasia

Definitions

Xref MGI. An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain.

ID

http://purl.obolibrary.org/obo/DOID_12721

comment

Xref MGI.

database_cross_reference

MESH:D010009

UMLS_CUI:C0026760

SNOMEDCT_US_2023_03_01:59708000

ICD9CM:756.56

GARD:10756

ORDO:251

definition

An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain.

has exact synonym

polyepiphyseal dysplasia

has symptom

http://purl.obolibrary.org/obo/SYMP_0000064

http://purl.obolibrary.org/obo/SYMP_0019177

has_obo_namespace

disease_ontology

id

DOID:12721

in_subset

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

label

multiple epiphyseal dysplasia

notation

DOID:12721

prefLabel

multiple epiphyseal dysplasia

subClassOf

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

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_12721 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_12721 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_12721 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_12721 MIDO SAME_URI
http://purl.obolibrary.org/obo/DOID_12721 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0016648 EFO LOOM
http://purl.obolibrary.org/obo/HP_0002654 OBA LOOM
http://purl.obolibrary.org/obo/MONDO_0016648 MONDO LOOM
http://purl.obolibrary.org/obo/HP_0002654 HP LOOM
http://purl.obolibrary.org/obo/MONDO_0016648 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0016648 HSPO LOOM
http://purl.obolibrary.org/obo/MONDO_0016648 DOVES LOOM
http://purl.bioontology.org/ontology/RCTV2/PG56.00 RCTV2 LOOM
http://www.gamuts.net/entity#multiple_epiphyseal_dysplasia GAMUTS LOOM
http://purl.bioontology.org/ontology/MEDDRA/10028197 MEDDRA LOOM
http://www.phoc.org.cn/pmo/class/PMO_00013960 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/HP_0002654 UPHENO LOOM
http://purl.obolibrary.org/obo/HP_0002654 MAXO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_12721 NATPRO LOOM
http://purl.obolibrary.org/obo/DOID_12721 BAO LOOM
http://purl.obolibrary.org/obo/DOID_12721 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_12721 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_12721 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_12721 FNS-H LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU037429 OMIM LOOM
http://purl.org/obo/owl/HP#HP_0002654 BDO LOOM
http://purl.jp/bio/4/id/200906023077216550 IOBC LOOM
http://purl.bioontology.org/ontology/ICD9CM/756.56 ICD9CM LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:1366 IFAR LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00A41 SNMI LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/59708000 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/RCD/PG56. RCD LOOM
http://www.limics.org/hrdo/rdfns#pat_id_1809 HRDO LOOM
http://www.orpha.net/ORDO/Orphanet_251 ORDO LOOM