Human Health Exposure Analysis Resource

Last uploaded: February 2, 2024

Preferred Name	trichothiodystrophy
Synonyms	TTD
Definitions	A syndrome characterized by sparse, brittle, sulfur-deficient hair that is easily broken and in more severe cases delayed development, significant intellectual disability, and recurrent infections.
ID	http://purl.obolibrary.org/obo/DOID_0111866
database_cross_reference	MESH:D054463 OMIM:PS601675 SNOMEDCT_US_2023_03_01:723551003 UMLS_CUI:C1955934 NCI:C4924 ORDO:33364
has exact synonym	TTD
has_obo_namespace	disease_ontology
id	DOID:0111866
in_subset	http://purl.obolibrary.org/obo/doid#NCIthesaurus http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	trichothiodystrophy
notation	DOID:0111866
prefLabel	trichothiodystrophy
textual definition	A syndrome characterized by sparse, brittle, sulfur-deficient hair that is easily broken and in more severe cases delayed development, significant intellectual disability, and recurrent infections.
subClassOf	http://purl.obolibrary.org/obo/DOID_225

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0111866	DOID	SAME_URI
http://purl.obolibrary.org/obo/DOID_0111866	BAO	SAME_URI
http://purl.obolibrary.org/obo/DOID_0111866	NIFSTD	SAME_URI
http://purl.obolibrary.org/obo/DOID_0111866	FNS-H	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	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://purl.obolibrary.org/obo/MONDO_0018053	DOVES	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