WormMine: DiseaseOntology DOID:0080506 Cornelia de Lange syndrome 2 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: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:0080009	X-linked dominant disease	A X-linked monogenic disease that has_material_basis_in dominant inheritance.
DOID:0050735	X-linked monogenic disease	A monogenic disease that has_material_basis_in mutations in genes on the X chromosome.
DOID:11725	Cornelia de Lange syndrome	A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features.
DOID:0080506	Cornelia de Lange syndrome 2	A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11.

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