JSON

trichothiodystrophy

Go to external page http://purl.obolibrary.org/obo/MONDO_0018053

Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulfur containing keratins). [ Orphanet:33364 ]

Synonyms: trichothiodystrophy syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:33364 (MONDO:equivalentTo)
  • NORD:1292 (MONDO:NORD)
  • MedDRA:10044628 (Orphanet:33364/e)
  • DOID:0111866 (MONDO:equivalentTo)
  • NCIT:C4924 (MONDO:equivalentTo)
  • MEDGEN:363064 (MONDO:equivalentTo)
  • OMIMPS:601675 (https://orcid.org/0000-0002-6601-2165)
  • GARD:12109 (MONDO:GARD)
  • UMLS:C1955934 (MONDO:equivalentTo)
  • NANDO:1200627 (https://orcid.org/0000-0003-0011-764X)
  • SCTID:723551003 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare

closeMatch

http://identifiers.org/meddra/10044628

exactMatch

http://identifiers.org/snomedct/723551003

https://omim.org/phenotypicSeries/PS601675

http://identifiers.org/medgen/363064

http://www.orpha.net/ORDO/Orphanet_33364

http://linkedlifedata.com/resource/umls/id/C1955934

http://purl.obolibrary.org/obo/NCIT_C4924

http://purl.obolibrary.org/obo/DOID_0111866

id

MONDO:0018053

Term relations