JSON

thanatophoric dysplasia

^ http://purl.obolibrary.org/obo/DOID_13481


An osteochondrodysplasia that results_in short arms and legs with excess folds of skin. [ url:http://emedicine.medscape.com/article/949591-overview url:http://ghr.nlm.nih.gov/condition/thanatophoric-dysplasia url:http://en.wikipedia.org/wiki/Thanatophoric_dysplasia ]

Term info

database cross reference
  • OMIM:187601
  • MESH:D013796
  • ORDO:93274
  • OMIM:273680
  • OMIM:187600
  • ORDO:1860
  • GARD:85
  • UMLS_CUI:C0039743
  • ICD10CM:Q77.1
  • SNOMEDCT_US_2018_03_01:29352008
  • NCI:C85187
  • ORDO:93275
  • ORDO:2655
Subsets

DO_rare_slim, NCIthesaurus

comment

Xref MGI. OMIM mapping confirmed by DO. [LS].

has obo namespace

disease_ontology

id

DOID:13481

Term relations

Subclass of: