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Human Disease Ontology
Last uploaded:
February 5, 2025
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| Id | http://purl.obolibrary.org/obo/DOID_12721
http://purl.obolibrary.org/obo/DOID_12721
|
|---|---|
| Preferred Name | multiple epiphyseal dysplasia |
| Definitions |
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.
Xref MGI.
|
| Synonyms |
polyepiphyseal dysplasia
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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. |
|---|---|
| label |
multiple epiphyseal dysplasia
|
| comment |
Xref MGI.
|
| prefLabel |
multiple epiphyseal dysplasia
|
| database_cross_reference |
MESH:D010009
UMLS_CUI:C0026760
SNOMEDCT_US_2023_03_01:59708000
ICD9CM:756.56
GARD:10756
ORDO:251
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|
| notation |
DOID:12721
|
| in_subset | |
| id |
DOID:12721
|
| has phenotype | |
| has symptom | |
| has_obo_namespace |
disease_ontology
|
| subClassOf | |
| type | |
| has exact synonym |
polyepiphyseal dysplasia
|
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