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Huntington disease-like 3

^ http://purl.obolibrary.org/obo/MONDO_0011487

Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy. [ Orphanet:157946 ]

Term info

database cross reference
  • OMIM:604802 (Orphanet:157946/e)
  • Orphanet:157946 (OMIM:604802)
  • MESH:C565747 (MONDO:equivalentTo)
  • UMLS:C1858114 (Orphanet:157946)
Subsets

ordo_disease

abbreviation
HDL3 [ MONDO:Lexical Orphanet:157946 OMIM:604802 ]

definition

Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy.

exactMatch

http://linkedlifedata.com/resource/umls/id/C1858114, https://omim.org/entry/604802, http://identifiers.org/mesh/C565747, http://purl.obolibrary.org/obo/Orphanet_157946

has exact synonym

HDL3, Huntington disease-like 3, Huntington disease-like type 3

has related synonym

Huntington disease-like neurodegenerative disorder, autosomal recessive

id

MONDO:0011487