BioAssay Ontology

Last uploaded: February 21, 2024
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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

SNOMEDCT_US_2020_03_01:723551003

UMLS_CUI:C1955934

NCI:C4924

ORDO:33364
has exact synonym

TTD
has_obo_namespace

disease_ontology
id

DOID:0111866
imported from

http://purl.obolibrary.org/obo/doid.owl
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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http://purl.obolibrary.org/obo/DOID_0111866 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_0111866 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0111866 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_0111866 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_0111866 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018053 MONDO LOOM
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 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