loading...| Preferred Name |
Trichothiodystrophy Syndromes |
|
| Synonyms |
BIDS Syndrome |
|
| Definitions |
Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D054463 |
|
| altLabel |
BIDS Syndrome Trichothiodystrophy Syndrome Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome Photosensitive Trichothiodystrophy PIBIDS Syndromes Trichothiodystrophy Hair Brain Syndrome Trichothiodystrophy with Congenital Ichtyosis Tay Syndrome IBIDS Syndrome Amish Brittle Hair Brain Syndrome Ichthyosiform Erythroderma with Hair Abnormality and Mental and Growth Retardation Photosensitive Trichothiodystrophies PIBIDS Syndrome Trichothiodystrophies Trichothiodystrophies, Nonphotosensitive 1 BIDS Syndromes IBIDS Syndromes Trichothiodystrophy, Photosensitive Brittle Hair Intellectual Impairment Decreased Fertility Short Stature Syndrome Amish Brittle Hair Syndrome Hair-Brain Syndromes Trichothiodystrophy, Nonphotosensitive 1 Trichothiodystrophies, Photosensitive Hair-Brain Syndrome Ichthyosis, Brittle Hair, Intellectual Impairment, Decreased Fertility, and Short Stature |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C1955934 C4083251 C0432267 C3495483 C1866504 |
|
| DC |
1 |
|
| definition |
Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene. |
|
| DX |
20080101 |
|
| FX |
D051759 |
|
| HN |
2008 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
2008 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C564733 http://purl.bioontology.org/ontology/MESH/C536320 |
|
| MDA |
20070709 |
|
| MMR |
20160610 |
|
| MN |
C16.320.850.895 C17.800.827.895 C17.800.804.874 C16.131.831.874 C16.131.077.899 |
|
| notation |
D054463 |
|
| prefLabel |
Trichothiodystrophy Syndromes |
|
| TERMUI |
T766850 T688889 T751308 T688840 T825499 T688888 T839572 T812675 T842602 T802066 T842603 T751306 T751309 T739720 T688887 T802064 |
|
| TH |
OMIM (2013) NLM (2008) NLM (2010) GHR (2014) NLM (2011) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D012868 |