loading...| Preferred Name | trichothiodystrophy | |
| Synonyms |
trichothiodystrophy syndrome |
|
| Definitions |
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). |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0018053 |
|
| closeMatch | ||
| database_cross_reference |
UMLS:C1955934 MEDGEN:363064 Orphanet:33364 MedDRA:10044628 OMIMPS:601675 SCTID:723551003 icd11.foundation:1366758649 NANDO:1200627 DOID:0111866 GARD:12109 NCIT:C4924 NORD:1292 |
|
| definition |
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). |
|
| exactMatch |
http://purl.obolibrary.org/obo/Orphanet_33364 http://purl.obolibrary.org/obo/DOID_0111866 http://linkedlifedata.com/resource/umls/id/C1955934 https://omim.org/phenotypicSeries/PS601675 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1366758649 http://identifiers.org/medgen/363064 |
|
| has_exact_synonym |
trichothiodystrophy syndrome |
|
| id |
MONDO:0018053 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
trichothiodystrophy |
|
| notation |
MONDO:0018053 |
|
| preferred label |
trichothiodystrophy |
|
| prefLabel |
trichothiodystrophy |
|
| subClassOf |