Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE
Synonyms

HAIR-BRAIN SYNDROME
ID

http://purl.bioontology.org/ontology/OMIM/234050
altLabel

HAIR-BRAIN SYNDROME

TTDN1

BIDS SYNDROME

POLLITT SYNDROME

ABHS

TTD4

TRICHOTHIODYSTROPHY-NEUROCUTANEOUS SYNDROME

AMISH BRITTLE HAIR BRAIN SYNDROME

TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1
cui

C1313961

C4083251

C3495483
Gene Locus

7p14
Gene Symbol

ABHS

C7orf11

MPLKIP

TTDN1

TTD4
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
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

275550
notation

234050
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE
Scope Statement

Caused by mutation in the M-phase specific PLK1 interacting protein (MPLKIP, 609188.0001) [MOLECULAR BASIS]
tui

T047
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