Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/616395
http://purl.bioontology.org/ontology/OMIM/616395
Preferred Name

TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE
Synonyms
TRICHOTHIODYSTROPHY, COMPLEMENTATION GROUP A
TTD3
TTDA
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
TRICHOTHIODYSTROPHY, COMPLEMENTATION GROUP A
TTD3
TTDA
prefLabel
TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE
Gene Symbol
TTDA
TFB5
TTD3
C6orf175
GTF2H5
Scope Statement
Caused by mutation in the general transcription factor IIH, polypeptide 5 gene (GTF2H5, 608780.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU075006
http://purl.bioontology.org/ontology/OMIM/MTHU004627
http://purl.bioontology.org/ontology/OMIM/MTHU002046
http://purl.bioontology.org/ontology/OMIM/MTHU001050
http://purl.bioontology.org/ontology/OMIM/MTHU075008
http://purl.bioontology.org/ontology/OMIM/MTHU000185
http://purl.bioontology.org/ontology/OMIM/MTHU075005
http://purl.bioontology.org/ontology/OMIM/MTHU075007
http://purl.bioontology.org/ontology/OMIM/MTHU008449
http://purl.bioontology.org/ontology/OMIM/MTHU061712
http://purl.bioontology.org/ontology/OMIM/MTHU037985
http://purl.bioontology.org/ontology/OMIM/MTHU000702
http://purl.bioontology.org/ontology/OMIM/MTHU000146
http://purl.bioontology.org/ontology/OMIM/MTHU001305
http://purl.bioontology.org/ontology/OMIM/MTHU000155
http://purl.bioontology.org/ontology/OMIM/MTHU002823
http://purl.bioontology.org/ontology/OMIM/MTHU037411
http://purl.bioontology.org/ontology/OMIM/MTHU000145
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tui
T047
Gene Locus
6q25.3
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
616395
Semantic type UMLS property
Has inheritance type
cui
C4017171
OMIM Entry Type
3
OMIM MimType Value
pound
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