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 |
|
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 |