OBO ID: DOID:2580
Term Name: rhizomelic chondrodysplasia punctata Search Ontology:
Synonyms:
  • Chondrodysplasia Punctata, Rhizomelic Form
Definition: A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. (3)
References:
  • GARD:13160
  • ICD10CM:E71.540
  • MESH:D018902
  • NCI:C85047
  • OMIM:PS215100
  • ORDO:177
  • SNOMEDCT_US_2023_03_01:56692003
  • UMLS_CUI:C0282529
Ontology: Human Disease   ( DOID:2580 )
Relationships
is a type of:
has subtype:
OTHER rhizomelic chondrodysplasia punctata PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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