Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/234050
http://purl.bioontology.org/ontology/OMIM/234050
Preferred Name

TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE
Synonyms
HAIR-BRAIN SYNDROME
TTDN1
BIDS SYNDROME
POLLITT SYNDROME
ABHS
TTD4
TRICHOTHIODYSTROPHY-NEUROCUTANEOUS SYNDROME
AMISH BRITTLE HAIR BRAIN SYNDROME
TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
HAIR-BRAIN SYNDROME
TTDN1
BIDS SYNDROME
POLLITT SYNDROME
ABHS
TTD4
TRICHOTHIODYSTROPHY-NEUROCUTANEOUS SYNDROME
AMISH BRITTLE HAIR BRAIN SYNDROME
TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1
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prefLabel
TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE
Gene Symbol
ABHS
C7orf11
MPLKIP
TTDN1
TTD4
notation
234050
Scope Statement
Caused by mutation in the M-phase specific PLK1 interacting protein (MPLKIP, 609188.0001) [MOLECULAR BASIS]
OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
Moved from
275550
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU004401
http://purl.bioontology.org/ontology/OMIM/MTHU001763
http://purl.bioontology.org/ontology/OMIM/MTHU045436
http://purl.bioontology.org/ontology/OMIM/MTHU045430
http://purl.bioontology.org/ontology/OMIM/MTHU045427
http://purl.bioontology.org/ontology/OMIM/MTHU049160
http://purl.bioontology.org/ontology/OMIM/MTHU067615
http://purl.bioontology.org/ontology/OMIM/MTHU045432
http://purl.bioontology.org/ontology/OMIM/MTHU037251
http://purl.bioontology.org/ontology/OMIM/MTHU036340
http://purl.bioontology.org/ontology/OMIM/MTHU045434
http://purl.bioontology.org/ontology/OMIM/MTHU001452
http://purl.bioontology.org/ontology/OMIM/MTHU002047
http://purl.bioontology.org/ontology/OMIM/MTHU011816
http://purl.bioontology.org/ontology/OMIM/MTHU045431
http://purl.bioontology.org/ontology/OMIM/MTHU045428
http://purl.bioontology.org/ontology/OMIM/MTHU017069
http://purl.bioontology.org/ontology/OMIM/MTHU067610
http://purl.bioontology.org/ontology/OMIM/MTHU045433
http://purl.bioontology.org/ontology/OMIM/MTHU045417
http://purl.bioontology.org/ontology/OMIM/MTHU045429
http://purl.bioontology.org/ontology/OMIM/MTHU036342
http://purl.bioontology.org/ontology/OMIM/MTHU067612
http://purl.bioontology.org/ontology/OMIM/MTHU067614
http://purl.bioontology.org/ontology/OMIM/MTHU007130
http://purl.bioontology.org/ontology/OMIM/MTHU002761
http://purl.bioontology.org/ontology/OMIM/MTHU000265
http://purl.bioontology.org/ontology/OMIM/MTHU045435
http://purl.bioontology.org/ontology/OMIM/MTHU020973
http://purl.bioontology.org/ontology/OMIM/MTHU007751
http://purl.bioontology.org/ontology/OMIM/MTHU036360
http://purl.bioontology.org/ontology/OMIM/MTHU000166
http://purl.bioontology.org/ontology/OMIM/MTHU033395
http://purl.bioontology.org/ontology/OMIM/MTHU036338
http://purl.bioontology.org/ontology/OMIM/MTHU003747
http://purl.bioontology.org/ontology/OMIM/MTHU036449
http://purl.bioontology.org/ontology/OMIM/MTHU000196
http://purl.bioontology.org/ontology/OMIM/MTHU067609
http://purl.bioontology.org/ontology/OMIM/MTHU017931
http://purl.bioontology.org/ontology/OMIM/MTHU067611
http://purl.bioontology.org/ontology/OMIM/MTHU015221
http://purl.bioontology.org/ontology/OMIM/MTHU045423
http://purl.bioontology.org/ontology/OMIM/MTHU028324
http://purl.bioontology.org/ontology/OMIM/MTHU045416
http://purl.bioontology.org/ontology/OMIM/MTHU000235
http://purl.bioontology.org/ontology/OMIM/MTHU000094
http://purl.bioontology.org/ontology/OMIM/MTHU067613
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
7p14
tui
T047
cui
C1313961
C4083251
C3495483
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