Experimental Factor Ontology

Last uploaded: November 18, 2024
Preferred Name

Huntington disease-like 1
Synonyms

prion disease, early-onset, with prominent psychiatric features

Huntington's disease-like 1

Huntington-like neurodegenerative disorder, autosomal dominant

early-onset prion disease with prominent psychiatric features

Huntington-like neurodegenerative disorder 1

Huntington disease-like type 1

PRNP neurodegenerative disease with chorea

neurodegenerative disease with chorea caused by mutation in PRNP

autosomal dominant Huntington-like neurodegenerative disorder

Huntington disease-like 1

HDL1

HLN1

Definitions

Any neurodegenerative disease with chorea in which the cause of the disease is a mutation in the PRNP gene.

ID

http://purl.obolibrary.org/obo/MONDO_0011299

database_cross_reference

MESH:C566398

Orphanet:157941

MEDGEN:355137

DOID:0090103

OMIM:603218

UMLS:C1864112

GARD:16985

definition

Any neurodegenerative disease with chorea in which the cause of the disease is a mutation in the PRNP gene.

exactMatch

https://omim.org/entry/603218

http://purl.obolibrary.org/obo/Orphanet_157941

http://purl.obolibrary.org/obo/DOID_0090103

http://identifiers.org/medgen/355137

http://linkedlifedata.com/resource/umls/id/C1864112

http://identifiers.org/mesh/C566398

has_exact_synonym

early-onset prion disease with prominent psychiatric features

Huntington-like neurodegenerative disorder 1

Huntington disease-like type 1

PRNP neurodegenerative disease with chorea

neurodegenerative disease with chorea caused by mutation in PRNP

autosomal dominant Huntington-like neurodegenerative disorder

Huntington disease-like 1

HDL1

HLN1

has_related_synonym

prion disease, early-onset, with prominent psychiatric features

Huntington's disease-like 1

Huntington-like neurodegenerative disorder, autosomal dominant

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/6877

https://github.com/monarch-initiative/mondo/issues/6671

id

MONDO:0011299

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder

label

Huntington disease-like 1

notation

MONDO:0011299

preferred label

Huntington disease-like 1

prefLabel

Huntington disease-like 1

subClassOf

http://purl.obolibrary.org/obo/MONDO_0024237

http://www.ebi.ac.uk/efo/EFO_0004720

excluded_subClassOf

http://purl.obolibrary.org/obo/MONDO_0005395

http://purl.obolibrary.org/obo/MONDO_0000167

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