Tibial muscular dystrophy, tardive

Preferred Label : Tibial muscular dystrophy, tardive;

Symbol : TMD;

CISMeF acronym : TMD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Tardive tibial muscular dystrophy; Udd myopathy;

Inheritance : Autosomal dominant;

Molecular basis : Caused by heterozygous mutation in the titin gene (TTN, 188840.0004);

Prefixed ID : #600334;

Details

Origin ID

600334;

UMLS CUI

C1838244;

Automatic exact mappings (from CISMeF team)
- Myelodysplastic Syndrome Post Cytotoxic Therapy [NCIt concept]
- TTN wt Allele [NCIt concept]
- Temporomandibular Joint Disorder [NCIt concept]
- Transient myeloproliferative syndrome [ORDO Disease]
- Transient myeloproliferative syndrome [HPO term]
- distal myopathies [MeSH Descriptor]
- temporomandibular joint dysfunction [MedlinePlus Topic]
- titin [ORDO Gene]
- titin [HGNC gene]
- tuberomammillary nucleus dorsal part [UBERON concept]
Currated CISMeF NLP mapping
- Tibial muscular dystrophy [ORDO Disease]
- Tibial muscular dystrophy (disorder) [SNOMED CT concept]
- tibial muscular dystrophy [DO Concept]
- tibial muscular dystrophy [MeSH concept]
- tibial muscular dystrophy, tardive [MeSH concept]
DO Cross reference
- tibial muscular dystrophy [DO Concept]
Genes related to phenotype
- Titin [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- EMG shows myopathic changes [HPO term]
- EMG: myopathic abnormalities [HPO term]
- Incomplete penetrance [HPO term]
- Muscular dystrophy [HPO term]
- Rimmed vacuoles [HPO term]
- Slowly progressive [HPO term]
- Steppage gait [HPO term]
- Weakness [HPO term]
Not associated HPO term(s)
- Cardiomyopathy [HPO term]
ORDO concept(s)
- Tibial muscular dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- tibial muscular dystrophy [DO Concept]
- tibial muscular dystrophy, tardive [MeSH concept]
Validated automatic mappings to NTBT
- tibial muscular dystrophy [Disease (Nov.)]

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