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Metadata
ID DOID:0111724
Name geleophysic dysplasia
Definition A bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis.
https://ghr.nlm.nih.gov/condition/geleophysic-dysplasia, https://www.ncbi.nlm.nih.gov/pubmed/20301776, https://www.ncbi.nlm.nih.gov/pubmed/31516831
Xrefs

GARD:2449

MEDDRA:10063361

OMIM:PS231050

ORDO:2623

SNOMEDCT_US_2023_03_01:28557005

UMLS_CUI:C3489726

Subsets

DO_rare_slim

Synonyms

geleophysic dwarfism [EXACT]

GPHYSD [EXACT]

Parent Relationships

is_a bone development disease

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