Mohr-tranebjaerg syndrome

Preferred Label : Mohr-tranebjaerg syndrome;

Symbol : MTS;

CISMeF acronym : DDP; DDS; MTS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : DDP; DDSX; Opticoacoustic nerve atrophy with dementia; Jensen syndrome; Dystonia-deafness syndrome, X-linked; Deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency; Deafness-dystonia-optic atrophy syndrome;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutations in the deafness/dystonia-1 gene (TIMM8A, 300356.0001).;

Prefixed ID : #304700;

Détails

Origin ID

304700;

UMLS CUI

C0796074;

Automatic exact mappings (from CISMeF team)
- Deafness - opticoacoustic nerve atrophy - dementia [ICD-11 More detail]
- Death diagnosis (contextual qualifier) (qualifier value) [SNOMED CT concept]
- Doctor of Dental Surgery [NCIt concept]
- Doctor of Divinity [NCIt concept]
- Drug Delivery System [NCIt concept]
- Jensen syndrome [MeSH concept]
- Master of Theology [NCIt concept]
- Metastatic to (attribute) [SNOMED CT concept]
- Mitochondrial Import Sequence [NCIt concept]
- Montana [NCIt concept]
- dapsone [SNOMED Notion]
- jensen syndrome [MeSH Supplementary Concept]
- methods [MeSH Descriptor]
- sexually transmitted diseases [MeSH Descriptor]
- translocase of inner mitochondrial membrane 8A [ORDO Gene]
- translocase of inner mitochondrial membrane 8A [HGNC gene]
Currated CISMeF NLP mapping
- Deafness-dystonia optic atrophy syndrome [ICD-11 More detail]
- Deafness-dystonia-optic neuronopathy syndrome (disorder) [SNOMED CT concept]
- Mohr-Tranebjaerg syndrome [MeSH concept]
- Mohr-Tranebjaerg syndrome [MeSH Supplementary Concept]
- Mohr-Tranebjaerg syndrome [ORDO Disease]
- deafness-dystonia-optic neuronopathy syndrome [DO Concept]
DO Cross reference
- deafness-dystonia-optic neuronopathy syndrome [DO Concept]
False automatic mappings
- CISplatin [LOINC component]
- Cisplatin [NCIt concept]
- Cisplatin (substance) [SNOMED CT concept]
- Dapsone [ICD-11 Extension code]
- Dapsone [LOINC component]
- Dapsone [NCIt concept]
- Dapsone (substance) [SNOMED CT concept]
- Denys-Drash Syndrome [NCIt concept]
- Malta [NCIt concept]
- Product containing cisplatin (medicinal product) [SNOMED CT concept]
- Product containing dapsone (medicinal product) [SNOMED CT concept]
- cisplatin [SNOMED Notion]
Genes related to phenotype
- Translocase of inner mitochondrial membrane 8a [OMIM gene]
HPO term(s)
- Abnormal electroretinogram [HPO term]
- Abnormal posturing [HPO term]
- Behavioral abnormality [HPO term]
- Cerebral visual impairment [HPO term]
- Childhood onset [HPO term]
- Constriction of peripheral visual field [HPO term]
- Cortical blindness [HPO term]
- Deafness [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Hyperreflexia [HPO term]
- Increased susceptibility to fractures [HPO term]
- Mental deterioration [HPO term]
- Myopia [HPO term]
- Photophobia [HPO term]
- Postlingual sensorineural hearing impairment [HPO term]
- Progressive sensorineural hearing impairment [HPO term]
- Reduced visual acuity [HPO term]
- Spasticity [HPO term]
- Tremor [HPO term]
- Visual impairment [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Mohr-Tranebjaerg syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness-dystonia optic atrophy syndrome [ICD-11 More detail]
- Deafness-dystonia-optic neuronopathy syndrome (disorder) [SNOMED CT concept]
- Mohr-Tranebjaerg syndrome [ORDO Disease]
- Mohr-Tranebjaerg syndrome [MeSH Supplementary Concept]
- Mohr-Tranebjaerg syndrome [MeSH concept]
- deafness-dystonia-optic neuronopathy syndrome [DO Concept]

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

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