FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term geleophysic dysplasia ID (Ontology) DOID:0111724 (Human Disease)
Definition A bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis.
Also Known As "geleophysic dwarfism" ; "GPHYSD"
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DO.org
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  bone disease
   |__bone development disease
       |__geleophysic dysplasia  2 rec.
           |__geleophysic dysplasia 1
           |__geleophysic dysplasia 2 2 rec.
           |__geleophysic dysplasia 3 2 rec.
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Is a bone development disease
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Synonyms
  • "geleophysic dwarfism" EXACT
    "GPHYSD" EXACT OMO:0003012
Secondary IDs
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GARD:2449
MEDDRA:10063361
MIM:PS231050
ORDO:2623
SNOMEDCT_US_2023_03_01:28557005
UMLS_CUI:C3489726