OBO ID: DOID:2581
Term Name: chondrodysplasia punctata Search Ontology:
Synonyms:
  • Chondrodysplasia punctata congenita
Definition: A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography. (2)
References:
  • GARD:8542
  • ICD10CM:Q77.3
  • MESH:D002806
  • NCI:C84632
  • OMIM:215105
  • ORDO:93442
  • SNOMEDCT_US_2022_09_01:205486004
  • UMLS_CUI:C0008445
Ontology: Human Disease   (DOID:2581)
OTHER chondrodysplasia punctata PAGES
GENES INVOLVED No data available
PHENOTYPE No data available

CITATIONS (1)