TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE

ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION

http://purl.bioontology.org/ontology/OMIM/601675

ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION

ICHTHYOSIS, CONGENITAL, WITH TRICHOTHIODYSTROPHY

TTDP

TRICHOTHIODYSTROPHY, PHOTOSENSITIVE

PIBIDS SYNDROME

TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS

TAY SYNDROME

TTD1

C1866505

C1866504

19q13.2-q13.3

EM9

ERCC2

XPD

TTD1

COFS2

http://purl.bioontology.org/ontology/OMIM/MTHU049575

http://purl.bioontology.org/ontology/OMIM/MTHU000128

http://purl.bioontology.org/ontology/OMIM/MTHU029315

http://purl.bioontology.org/ontology/OMIM/MTHU049579

http://purl.bioontology.org/ontology/OMIM/MTHU049569

http://purl.bioontology.org/ontology/OMIM/MTHU005166

http://purl.bioontology.org/ontology/OMIM/MTHU049160

http://purl.bioontology.org/ontology/OMIM/MTHU002046

http://purl.bioontology.org/ontology/OMIM/MTHU049559

http://purl.bioontology.org/ontology/OMIM/MTHU037251

http://purl.bioontology.org/ontology/OMIM/MTHU001050

http://purl.bioontology.org/ontology/OMIM/MTHU004637

http://purl.bioontology.org/ontology/OMIM/MTHU002047

http://purl.bioontology.org/ontology/OMIM/MTHU049571

http://purl.bioontology.org/ontology/OMIM/MTHU010279

http://purl.bioontology.org/ontology/OMIM/MTHU036378

http://purl.bioontology.org/ontology/OMIM/MTHU067610

http://purl.bioontology.org/ontology/OMIM/MTHU049562

http://purl.bioontology.org/ontology/OMIM/MTHU049573

http://purl.bioontology.org/ontology/OMIM/MTHU049566

http://purl.bioontology.org/ontology/OMIM/MTHU049563

http://purl.bioontology.org/ontology/OMIM/MTHU049570

http://purl.bioontology.org/ontology/OMIM/MTHU049576

http://purl.bioontology.org/ontology/OMIM/MTHU037985

http://purl.bioontology.org/ontology/OMIM/MTHU049572

http://purl.bioontology.org/ontology/OMIM/MTHU000129

http://purl.bioontology.org/ontology/OMIM/MTHU000565

http://purl.bioontology.org/ontology/OMIM/MTHU036342

http://purl.bioontology.org/ontology/OMIM/MTHU067612

http://purl.bioontology.org/ontology/OMIM/MTHU011660

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU000702

http://purl.bioontology.org/ontology/OMIM/MTHU049561

http://purl.bioontology.org/ontology/OMIM/MTHU049568

http://purl.bioontology.org/ontology/OMIM/MTHU036373

http://purl.bioontology.org/ontology/OMIM/MTHU049577

http://purl.bioontology.org/ontology/OMIM/MTHU049580

http://purl.bioontology.org/ontology/OMIM/MTHU049578

http://purl.bioontology.org/ontology/OMIM/MTHU049567

http://purl.bioontology.org/ontology/OMIM/MTHU049560

http://purl.bioontology.org/ontology/OMIM/MTHU007900

http://purl.bioontology.org/ontology/OMIM/MTHU049574

http://purl.bioontology.org/ontology/OMIM/MTHU004140

http://purl.bioontology.org/ontology/OMIM/MTHU026401

http://purl.bioontology.org/ontology/OMIM/MTHU000166

http://purl.bioontology.org/ontology/OMIM/MTHU003860

http://purl.bioontology.org/ontology/OMIM/MTHU042262

http://purl.bioontology.org/ontology/OMIM/MTHU059134

http://purl.bioontology.org/ontology/OMIM/MTHU003747

http://purl.bioontology.org/ontology/OMIM/MTHU036449

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU008785

http://purl.bioontology.org/ontology/OMIM/MTHU067611

http://purl.bioontology.org/ontology/OMIM/MTHU036408

http://purl.bioontology.org/ontology/OMIM/MTHU028324

http://purl.bioontology.org/ontology/OMIM/MTHU000235

Phenotype description, molecular basis known.

242170

601675

3

pound

TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE

Caused by mutation in the ERCC excision repair 2, TFIIH core complex helicase subunit gene (ERCC2, 126340.0001) [MOLECULAR BASIS]

Skin neoplasia may appear later in life [MISCELLANEOUS]

T047