WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0070343 CSF1R-related brain malformation and osteopetrosis Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A neuroaxonal dystrophy that has_material_basis_in heterozygous mutations in CSF1R and causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, characterized by progressive cognitive and motor impairment and seizures in the fourth to fifth decade of life.

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: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:1443 cerebral degeneration A brain disease that is characterized by loss of structure or function of neurons, including death of neurons and loss of brain tissue.
DOID:2367 neuroaxonal dystrophy  
DOID:0070343 CSF1R-related brain malformation and osteopetrosis A neuroaxonal dystrophy that has_material_basis_in heterozygous mutations in CSF1R and causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, characterized by progressive cognitive and motor impairment and seizures in the fourth to fifth decade of life.

7 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:2367 DOID:0070343
is_a DOID:4 DOID:0070343
is_a DOID:863 DOID:0070343
is_a DOID:331 DOID:0070343
is_a DOID:1443 DOID:0070343
is_a DOID:936 DOID:0070343
is_a DOID:7 DOID:0070343

1 Synonyms

Name Type
osteoporosis and infantile neuroaxonal dystrophy synonym