Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/619691
http://purl.bioontology.org/ontology/OMIM/619691
Preferred Name

TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE
Synonyms
TTD8
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
TTD8
prefLabel
TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE
Gene Symbol
AARS
AARS1
CMT2N
TTD8
DEE29
HDLS2
See more
See less
Scope Statement
Based on report of 2 probands (last curated December 2021) [MISCELLANEOUS]
Caused by mutation in the alanyl-tRNA synthetase-1 gene (AARS1, 601065.0006) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU068918
http://purl.bioontology.org/ontology/OMIM/MTHU026409
http://purl.bioontology.org/ontology/OMIM/MTHU002046
http://purl.bioontology.org/ontology/OMIM/MTHU037251
http://purl.bioontology.org/ontology/OMIM/MTHU036340
http://purl.bioontology.org/ontology/OMIM/MTHU002047
http://purl.bioontology.org/ontology/OMIM/MTHU000185
http://purl.bioontology.org/ontology/OMIM/MTHU010279
http://purl.bioontology.org/ontology/OMIM/MTHU000580
http://purl.bioontology.org/ontology/OMIM/MTHU000583
http://purl.bioontology.org/ontology/OMIM/MTHU006625
http://purl.bioontology.org/ontology/OMIM/MTHU061712
http://purl.bioontology.org/ontology/OMIM/MTHU074545
http://purl.bioontology.org/ontology/OMIM/MTHU074547
http://purl.bioontology.org/ontology/OMIM/MTHU074549
http://purl.bioontology.org/ontology/OMIM/MTHU004589
http://purl.bioontology.org/ontology/OMIM/MTHU033011
http://purl.bioontology.org/ontology/OMIM/MTHU001788
http://purl.bioontology.org/ontology/OMIM/MTHU011913
http://purl.bioontology.org/ontology/OMIM/MTHU004501
http://purl.bioontology.org/ontology/OMIM/MTHU000575
http://purl.bioontology.org/ontology/OMIM/MTHU012678
http://purl.bioontology.org/ontology/OMIM/MTHU074552
http://purl.bioontology.org/ontology/OMIM/MTHU002945
http://purl.bioontology.org/ontology/OMIM/MTHU074546
http://purl.bioontology.org/ontology/OMIM/MTHU007751
http://purl.bioontology.org/ontology/OMIM/MTHU002943
http://purl.bioontology.org/ontology/OMIM/MTHU074551
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU074548
http://purl.bioontology.org/ontology/OMIM/MTHU074550
http://purl.bioontology.org/ontology/OMIM/MTHU003747
http://purl.bioontology.org/ontology/OMIM/MTHU035950
http://purl.bioontology.org/ontology/OMIM/MTHU000145
http://purl.bioontology.org/ontology/OMIM/MTHU002670
See more
See less
tui
T047
Gene Locus
16q22
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
619691
Semantic type UMLS property
Has inheritance type
cui
C5562057
OMIM Entry Type
3
OMIM MimType Value
pound
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display