Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/118700 http://purl.bioontology.org/ontology/OMIM/118700
Preferred Name	CHOREA, BENIGN HEREDITARY
Synonyms	HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA BCH BHC
Type	http://www.w3.org/2002/07/owl#Class

altLabel	HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA BCH BHC
prefLabel	CHOREA, BENIGN HEREDITARY
Gene Symbol	NKX2-1 NMTC1 NKX2A TTF1 TITF1
notation	118700
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]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
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 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	14q13
tui	T047
cui	C0393584

Delete	Subject	Author	Type	Created
No notes to display