loading...| Preferred Name | geleophysic dysplasia | |
| Synonyms |
geleophysic dwarfism syndrome geleophysic dwarfism |
|
| Definitions |
Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy''). |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0000127 |
|
| database_cross_reference |
OMIMPS:231050 ICD9:759.89 DOID:0111724 SCTID:28557005 Orphanet:2623 MedDRA:10063361 icd11.foundation:518828851 UMLS:C3489726 MEDGEN:483679 GARD:2449 |
|
| definition |
Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy''). |
|
| has_exact_synonym |
geleophysic dwarfism |
|
| has_related_synonym |
geleophysic dwarfism syndrome |
|
| IAO_0000233 | ||
| id |
MONDO:0000127 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
geleophysic dysplasia |
|
| notation |
MONDO:0000127 |
|
| preferred label |
geleophysic dysplasia |
|
| prefLabel |
geleophysic dysplasia |
|
| skos_closeMatch | ||
| skos_exactMatch |
http://identifiers.org/medgen/483679 http://purl.obolibrary.org/obo/Orphanet_2623 https://omim.org/phenotypicSeries/PS231050 http://identifiers.org/snomedct/28557005 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/518828851 |
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| subClassOf |