WormMine: DiseaseOntology DOID:0050777 Joubert syndrome Disease Ontology

Name
Disease Ontology

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:225	syndrome	A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality.
DOID:0050177	monogenic disease	A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
DOID:630	genetic disease	A disease that has_material_basis_in genetic variations in the human genome.
DOID:0060340	ciliopathy	A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia.
DOID:0050777	Joubert syndrome	A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.

Name	Type
JBTS	synonym

WormMine