WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0090103 Huntington's disease-like 1 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A prion disease that is characterized by a phenocopy of Huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that has_material_basis_in autosomal dominant inheritance of 8 extra octapeptide repeats in the prion protein (PRNP) gene on chromosome 20p13.

1 Ontology

Name
Disease Ontology

8 Parents

Identifier Name Description
DOID:7 disease of anatomical entity A disease that manifests in a defined anatomical structure.
DOID:4 disease A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:863 nervous system disease A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system.
DOID:0050117 disease by infectious agent A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions.
DOID:936 brain disease A central nervous system disease that is located_in the brain.
DOID:331 central nervous system disease A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system.
DOID:649 prion disease A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins.
DOID:0090103 Huntington's disease-like 1 A prion disease that is characterized by a phenocopy of Huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that has_material_basis_in autosomal dominant inheritance of 8 extra octapeptide repeats in the prion protein (PRNP) gene on chromosome 20p13.

7 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:649 DOID:0090103
is_a DOID:936 DOID:0090103
is_a DOID:331 DOID:0090103
is_a DOID:0050117 DOID:0090103
is_a DOID:4 DOID:0090103
is_a DOID:863 DOID:0090103
is_a DOID:7 DOID:0090103

6 Synonyms

Name Type
autosomal dominant Huntington-like neurodegenerative disorder synonym
early-onset prion disease with prominent psychiatric features synonym
HDL1 synonym
HLN1 synonym
Huntington disease-like 1 synonym
Huntington-like neurodegenerative disorder 1 synonym