This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:156830 (Orphanet:93274/btnt)
  • OMIM:187601 (Orphanet:93274/e)
  • MESH:C536508 (MONDO:equivalentTo)
  • Orphanet:93274 (OMIM:187601)
  • UMLS:C1300257 (Orphanet:93274)
  • UMLS:CN206542 (MONDO:equivalentTo)
  • ICD10CM:Q77.1 (Orphanet:93274/ntbt)
  • SCTID:389158007 (MONDO:equivalentTo)
  • ICD9:742.59 (MONDO:relatedTo)
  • GARD:0001402 (MONDO:equivalentTo)
  • NCIT:C98584 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_clinical_subtype

definition
  • Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs.
exactMatch
  • http://linkedlifedata.com/resource/umls/id/CN206542
  • http://identifiers.org/mesh/C536508
  • https://omim.org/entry/187601
  • http://linkedlifedata.com/resource/umls/id/C1300257
  • http://purl.obolibrary.org/obo/NCIT_C98584
  • http://identifiers.org/snomedct/389158007
  • http://www.orpha.net/ORDO/Orphanet_93274
has exact synonym
  • thanatophoric dwarfism type 2
  • type 2 thanatophoric dysplasia
  • TD2
  • cloverleaf skull-micromelic bone dysplasia syndrome
  • thanatophoric dysplasia, type 2
  • thanatophoric dwarfism-cloverleaf skull syndrome
has related synonym
  • thanatophoric dysplasia with straight femurs and cloverleaf skull
  • thanatophoric dysplasia with Kleeblattschaedel
  • thanatophoric dwarfism - cloverleaf skull
  • cloverleaf skull with thanatophoric dwarfism
  • thanatophoric dysplasia, type II
  • thanatophoric dysplasia type II
id
  • MONDO:0008547
narrowMatch
  • http://apps.who.int/classifications/icd10/browse/2010/en#/Q77.1
seeAlso
  • https://rarediseases.info.nih.gov/diseases/1402/thanatophoric-dysplasia-type-2