Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023

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 sulphur containing keratins).
ID	http://purl.obolibrary.org/obo/MONDO_0018053
has_exact_synonym	trichothiodystrophy syndrome
label	trichothiodystrophy
prefixIRI	MONDO:0018053
prefLabel	trichothiodystrophy
textual 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 sulphur containing keratins).
subClassOf	http://purl.obolibrary.org/obo/MONDO_0019287 http://purl.obolibrary.org/obo/MONDO_0017270 http://purl.obolibrary.org/obo/MONDO_0005372

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0018053	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018053	EFO	SAME_URI
http://nanbyodata.jp/ontology/NANDO_1200627	NANDO	LOOM
http://purl.obolibrary.org/obo/DOID_0111866	DOID	LOOM
http://purl.bioontology.org/ontology/RCD/X78BU	RCD	LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000043480	PDQ	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0740342	OCHV	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Trichothiodystrophy	CSEO	LOOM
http://www.gamuts.net/entity#trichothiodystrophy	GAMUTS	LOOM
http://www.orpha.net/ORDO/Orphanet_33364	ORDO	LOOM
http://purl.obolibrary.org/obo/DOID_0111866	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_0111866	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0111866	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0111866	FNS-H	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C4924	NCIT	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/723551003	SNOMEDCT	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_10319	HRDO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10044628	MEDDRA	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14439	DERMLEX	LOOM
http://purl.obolibrary.org/obo/NCIT_C4924	BERO	LOOM
http://purl.obolibrary.org/obo/MONDO_0018053	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0018053	EFO	LOOM