Mondo Disease Ontology

Last uploaded: November 25, 2024

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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
database_cross_reference	SCTID:723551003 GARD:12109 NANDO:1200627 NCIT:C4924 DOID:0111866 Orphanet:33364 UMLS:C1955934 NORD:1292 OMIMPS:601675 icd11.foundation:1366758649 MedDRA:10044628 MEDGEN:363064
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).
has_exact_synonym	trichothiodystrophy syndrome
id	MONDO:0018053
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare
label	trichothiodystrophy
notation	MONDO:0018053
prefLabel	trichothiodystrophy
should_conform_to	http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml
skos_closeMatch	http://identifiers.org/meddra/10044628
skos_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 http://identifiers.org/snomedct/723551003 http://purl.obolibrary.org/obo/NCIT_C4924
treeView	http://purl.obolibrary.org/obo/MONDO_0019287
subClassOf	http://purl.obolibrary.org/obo/MONDO_0019287

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0018053	CCONT	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018053	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018053	DOVES	SAME_URI
http://purl.bioontology.org/ontology/RCD/X78BU	RCD	LOOM
rgo:29226	GAMUTS	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://nanbyodata.jp/ontology/NANDO_1200627	NANDO	LOOM
http://www.orpha.net/ORDO/Orphanet_33364	ORDO	LOOM
http://purl.obolibrary.org/obo/DOID_0111866	DOID	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	DDSS	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	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0018053	EFO	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