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Huntington disease-like 3

Go to external page 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 ]

Synonyms: HDL3 Huntington disease-like 3 Huntington disease-like type 3

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:16986 (MONDO:GARD)
  • MESH:C565747 (MONDO:equivalentTo)
  • MEDGEN:347622 (MONDO:equivalentTo)
  • Orphanet:157946 (OMIM:604802)
  • UMLS:C1858114 (MONDO:equivalentTo)
  • OMIM:604802 (Orphanet:157946/e)
Subsets

gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare

abbreviation
HDL3 [ https://omim.org/entry/604802 MONDO:Lexical Orphanet:157946 ]

exactMatch

http://linkedlifedata.com/resource/umls/id/C1858114

https://omim.org/entry/604802

http://www.orpha.net/ORDO/Orphanet_157946

http://identifiers.org/mesh/C565747

http://identifiers.org/medgen/347622

has related synonym

Huntington disease-like neurodegenerative disorder, autosomal recessive

id

MONDO:0011487