WormMine: DiseaseOntology DOID:0080503 multiple congenital anomalies-hypotonia-seizures syndrome Disease Ontology

Name
Disease Ontology

Identifier	Name	Description
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:0014667	disease of metabolism	A disease that involving errors in metabolic processes of building or degradation of molecules.
DOID:630	genetic disease	A disease that has_material_basis_in genetic variations in the human genome.
DOID:0080015	physical disorder	A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
DOID:655	inherited metabolic disorder	A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
DOID:3146	lipid metabolism disorder	An inherited metabolic disorder that involves the creation and degradation of lipids.
DOID:0080503	multiple congenital anomalies-hypotonia-seizures syndrome	A lipid metabolism disorder that is characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple cardiac, genitourinary, and gastrointestinal congenital anomalies.

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