loading...| Preferred Name | geleophysic dysplasia | |
| Synonyms |
GPHYSD geleophysic dwarfism |
|
| Definitions |
A bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0111724 |
|
| database_cross_reference |
MEDDRA:10063361 SNOMEDCT_US_2021_09_01:28557005 UMLS_CUI:C3489726 GARD:2449 ORDO:2623 OMIM:PS231050 |
|
| 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 |
GPHYSD geleophysic dwarfism |
|
| has_obo_namespace |
disease_ontology |
|
| IAO_0000115 |
A bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis. |
|
| id |
DOID:0111724 |
|
| label |
geleophysic dysplasia |
|
| notation |
DOID:0111724 |
|
| note |
A bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis. |
|
| prefLabel |
geleophysic dysplasia |
|
| subClassOf |