Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

CHOREA, BENIGN HEREDITARY

Synonyms

HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA

ID

http://purl.bioontology.org/ontology/OMIM/118700

altLabel

HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA

BCH

BHC

cui

C0393584

Gene Locus

14q13

Gene Symbol

NKX2-1

NMTC1

NKX2A

TTF1

TITF1

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU018942

http://purl.bioontology.org/ontology/OMIM/MTHU000379

http://purl.bioontology.org/ontology/OMIM/MTHU003622

http://purl.bioontology.org/ontology/OMIM/MTHU021194

http://purl.bioontology.org/ontology/OMIM/MTHU006634

http://purl.bioontology.org/ontology/OMIM/MTHU018943

http://purl.bioontology.org/ontology/OMIM/MTHU018941

http://purl.bioontology.org/ontology/OMIM/MTHU018944

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

118700

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

CHOREA, BENIGN HEREDITARY

Scope Statement

Caused by mutation in the thyroid transcription factor-1 gene (TITF1, 600635.0001) [MOLECULAR BASIS]

Allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), which is a more severe disorder [MISCELLANEOUS]

Variable phenotype [MISCELLANEOUS]

Onset in childhood (usually before age 5 years) [MISCELLANEOUS]

tui

T047

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