JSON

parkinsonian-pyramidal syndrome

^ http://purl.obolibrary.org/obo/MONDO_0009830

A Parkinson's disease that has material basis in mutation in the FBXO7 gene on chromosome 22q12.3. [ PMID:22315721 DOID:0060372 ]

Term info

database cross reference
  • GARD:0009175 (MONDO:equivalentTo)
  • OMIM:260300 (Orphanet:171695/e)
  • Orphanet:171695 (OMIM:260300)
  • MESH:C538104 (MONDO:equivalentTo)
  • UMLS:C1850100 (Orphanet:171695)
  • DOID:0060372 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
PARK15 [ MONDO:Lexical OMIM:260300 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

definition

A Parkinson's disease that has material basis in mutation in the FBXO7 gene on chromosome 22q12.3.

exactMatch

http://purl.obolibrary.org/obo/DOID_0060372, http://identifiers.org/mesh/C538104, http://linkedlifedata.com/resource/umls/id/C1850100, http://purl.obolibrary.org/obo/Orphanet_171695, https://omim.org/entry/260300

has exact synonym

autosomal recessive early-onset Parkinson disease 15, Parkinson disease 15, autosomal recessive, pallidopyramidal syndrome, Pallidopyramidal syndrome, autosomal recessive early-onset Parkinson disease type 15, parkinsonian-pyramidal syndrome

has related synonym

PARK15, autosomal recessive early-onset Parkinson's disease 15, pallido-pyramidal syndrome, pallido-pyramidal disease, Parkinson disease 15, autosomal recessive early-onset

id

MONDO:0009830