Mondo Disease Ontology

Last uploaded: November 25, 2024
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Preferred Name

trichothiodystrophy 1, photosensitive
Synonyms

Tay syndrome

trichothiodystrophy with congenital ichthyosis

ichthyosiform erythroderma with hair Abnormality and mental and Growth retardation

trichothiodystrophy, photosensitive

TTD1

PIBIDS syndrome

trichothiodystrophy 1, photosensitive
ID

http://purl.obolibrary.org/obo/MONDO_0011125
database_cross_reference

UMLS:C1866504

Orphanet:670

OMIM:601675

GARD:5270

NCIT:C156433

DOID:0111873

MEDGEN:355730
has_exact_synonym

PIBIDS syndrome

trichothiodystrophy 1, photosensitive
has_related_synonym

Tay syndrome

trichothiodystrophy with congenital ichthyosis

ichthyosiform erythroderma with hair Abnormality and mental and Growth retardation

trichothiodystrophy, photosensitive

TTD1
id

MONDO:0011125
in_subset

http://purl.obolibrary.org/obo/mondo/mondo-simple#rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare
label

trichothiodystrophy 1, photosensitive
notation

MONDO:0011125
prefLabel

trichothiodystrophy 1, photosensitive
skos_exactMatch

http://identifiers.org/medgen/355730

https://omim.org/entry/601675

http://purl.obolibrary.org/obo/DOID_0111873

http://linkedlifedata.com/resource/umls/id/C1866504

http://purl.obolibrary.org/obo/NCIT_C156433
treeView

http://purl.obolibrary.org/obo/MONDO_0002470
subClassOf

http://purl.obolibrary.org/obo/MONDO_0002470
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