Trichothiodystrophy 4, nonphotosensitive

Preferred Label : Trichothiodystrophy 4, nonphotosensitive;

Symbol : TTD4;

CISMeF acronym : ABHS; TTDN1; TTD4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ABHS; Trichothiodystrophy-neurocutaneous syndrome; Bids syndrome; Pollitt syndrome; Amish brittle hair brain syndrome; Hair-brain syndrome; TTDN1; Trichothiodystrophy, nonphotosensitive 1;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the M-phase specific PLK1 interacting protein (MPLKIP, 609188.0001);

Prefixed ID : #234050;

Détails

Origin ID

234050;

UMLS CUI

C1313961;

Automatic exact mappings (from CISMeF team)
- BIDS syndrome [ICD-11 More detail]
- M-phase specific PLK1 interacting protein [ORDO Gene]
- trichothiodystrophy syndromes [MeSH Descriptor]
CISMeF manual mappings
- Trichothiodystrophy, Nonphotosensitive 1 [MeSH concept]
Currated CISMeF NLP mapping
- BIDS syndrome [ORDO Disease]
- Brittle hair-impaired intellect-decreased fertility-short stature syndrome (disorder) [SNOMED CT concept]
- Clastothrix (disorder) [SNOMED CT concept]
- Trichorrhexis nodosa syndrome [ICD-11 More detail]
- Trichorrhexis nodosa syndrome [MeSH concept]
- Trichothiodystrophy 4, Nonphotosensitive [NCIt concept]
- amish brittle hair brain syndrome [MeSH concept]
- nonphotosensitive trichothiodystrophy 4 [DO Concept]
- trichorrhexis nodosa syndrome [MeSH Supplementary Concept]
DO Cross reference
- nonphotosensitive trichothiodystrophy 4 [DO Concept]
Genes related to phenotype
- M-phase-specific plk1-interacting protein [OMIM gene]
HPO term(s)
- Abnormality of hair texture [HPO term]
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brittle hair [HPO term]
- Cerebral cortical atrophy [HPO term]
- Concave nail [HPO term]
- Decreased fertility [HPO term]
- Epicanthus [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hypoplasia of teeth [HPO term]
- Intellectual disability [HPO term]
- Keratoconjunctivitis sicca [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Microcornea [HPO term]
- Microphthalmia [HPO term]
- Nail dysplasia [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Partial agenesis of the corpus callosum [HPO term]
- Psychomotor retardation [HPO term]
- Retrognathia [HPO term]
- Severe muscular hypotonia [HPO term]
- Short nose [HPO term]
- Small nail [HPO term]
- Sparse eyelashes [HPO term]
- Sparse hair [HPO term]
- Trichorrhexis nodosa [HPO term]
- Ventricular septal defect [HPO term]
- Woolly hair [HPO term]
ORDO concept(s)
- BIDS syndrome [ORDO Disease]
- Trichothiodystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pollitt syndrome [ORDO Disease]
- Trichorrhexis nodosa syndrome [MeSH concept]
- Trichothiodystrophy 4, Nonphotosensitive [NCIt concept]
- trichorrhexis nodosa syndrome [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- trichothiodystrophy syndromes [MeSH Descriptor]

Position du mot-clé dans l'(les) arborescence(s) :

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