Search Ontology:
Human Disease

geleophysic dysplasia

Term ID
DOID:0111724
Synonyms
  • geleophysic dwarfism
  • GPHYSD
Definition
A bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis. (3)
References
  • GARD:2449
  • MEDDRA:10063361
  • OMIM:PS231050
  • ORDO:2623
  • SNOMEDCT_US_2023_03_01:28557005
  • UMLS_CUI:C3489726
Ontology
Human Disease   ( DOID:0111724 )
Relationships
is a type of
has subtype
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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