Tietz albinism-deafness syndrome

Preferred Label : Tietz albinism-deafness syndrome;

Symbol : TADS;

CISMeF acronym : TADS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Tietz syndrome; Hypopigmentation/deafness of tietz; Albinism-deafness of tietz;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the microphthalmia-associated transcription factor gene (MITF, 156845.0006);

Prefixed ID : #103500;

Détails

Origin ID

103500;

UMLS CUI

C0391816;

Automatic exact mappings (from CISMeF team)
- Costochondritis [ICD-11 More detail]
- Musculoskeletal Chest Pain due to Costochondral Junction Syndrome [NCIt concept]
- musculoskeletal disease other [ICPC-2 Rubric]
Currated CISMeF NLP mapping
- Albinism-deafness syndrome of Tietz (disorder) [SNOMED CT concept]
- Chondrocostal junction syndrome [Tietze] [ICD-10 Sub-category (who)]
- Tietz syndrome [DO Concept]
- Tietz syndrome [Disease (Nov.)]
- Tietz syndrome [MeSH concept]
- Tietz syndrome [ORDO Disease]
- Tietze syndrome [PASCAL descriptor]
- Tietze's disease [MedDRA LLT]
- Tietze's disease [ICD-9 code]
- Tietze's disease (disorder) [SNOMED CT concept]
- Tietze's syndrome [DO Concept]
- Tietze's syndrome [MedDRA LLT]
- tietz syndrome [MeSH Supplementary Concept]
- tietze's disease [SNOMED Notion]
- tietze's syndrome [MeSH Descriptor]
- tietze's syndrome [MeSH concept]
DO Cross reference
- Tietz syndrome [DO Concept]
Genes related to phenotype
- Microphthalmia-associated transcription factor [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bilateral congenital sensorineural deafness [HPO term]
- Bilateral sensorineural hearing impairment [HPO term]
- Blue irides [HPO term]
- Congenital sensorineural hearing impairment [HPO term]
- Generalized hypopigmentation [HPO term]
- Hypopigmentation of the fundus [HPO term]
- White eyebrow [HPO term]
- White eyelashes [HPO term]
Not associated HPO term(s)
- Heterochromia iridis [HPO term]
ORDO concept(s)
- Tietz syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Albinism-deafness syndrome of Tietz (disorder) [SNOMED CT concept]
- Tietz syndrome [ORDO Disease]
- Tietz syndrome [MeSH concept]
- tietz syndrome [MeSH Supplementary Concept]

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

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