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loading...| Preferred Name | geleophysic dysplasia | |
| Synonyms |
geleophysic dwarfism GPHYSD |
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| Definitions |
A bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0111724 |
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| database_cross_reference |
MEDDRA:10063361 SNOMEDCT_US_2023_03_01:28557005 MIM:PS231050 UMLS_CUI:C3489726 GARD:2449 ORDO:2623 |
|
| definition |
A bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis. |
|
| has exact synonym |
geleophysic dwarfism GPHYSD |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0111724 |
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| in_subset | ||
| label |
geleophysic dysplasia |
|
| notation |
DOID:0111724 |
|
| prefLabel |
geleophysic dysplasia |
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| subClassOf |
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