WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0112322 pontocerebellar hypoplasia type 1 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A pontocerebellar hypoplasia characterized by spinal cord anterior horn cell degeneration combined with pontocerebellar hypoplasia.

1 Ontology

Name
Disease Ontology

7 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: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:1289 neurodegenerative disease A central nervous system disease that results in the progressive deterioration of function or structure of neurons.
DOID:0060264 pontocerebellar hypoplasia A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum.
DOID:0112322 pontocerebellar hypoplasia type 1 A pontocerebellar hypoplasia characterized by spinal cord anterior horn cell degeneration combined with pontocerebellar hypoplasia.

12 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0112322 DOID:0060265
is_a DOID:0112322 DOID:0060266
is_a DOID:0060264 DOID:0112322
is_a DOID:331 DOID:0112322
is_a DOID:863 DOID:0112322
is_a DOID:7 DOID:0112322
is_a DOID:1289 DOID:0112322
is_a DOID:4 DOID:0112322
is_a DOID:0112322 DOID:0112323
is_a DOID:0112322 DOID:0112330
is_a DOID:0112322 DOID:0112331
is_a DOID:0112322 DOID:0112334

4 Synonyms

Name Type
pontocerebellar hypoplasia with infantile spinal muscular atrophy synonym
Norman disease synonym
PCH1 synonym
pontocerebellar hypoplasia with anterior horn cell disease synonym