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Trichothiodystrophy (TTD)

Alias:
Ttd
Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome
Trichothiodystrophy Syndromes
Amish Brittle Hair Syndrome
Bids Syndrome
Pibids
Ibids
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Trichothiodystrophy, also known as ttd, is related to trichothiodystrophy 1, photosensitive and trichothiodystrophy 4, nonphotosensitive. An important gene associated with Trichothiodystrophy is ERCC2 (ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit), and among its related pathways/superpathways are Infectious disease and Processing of Capped Intron-Containing Pre-mRNA. Affiliated tissues include skin and eye, and related phenotypes are spasticity and abnormal pyramidal sign
Related ID：
MALACARDS：TRC096
MESH：D054463

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
XL
XLD
Newborn
1-9/1000000
77
649
5
TRC096

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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