WormMine: DiseaseOntology DOID:14291 Noonan syndrome with multiple lentigines 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:0050736	autosomal dominant disease	An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.
DOID:0050739	autosomal genetic disease	A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
DOID:0080690	RASopathy	A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction.
DOID:14291	Noonan syndrome with multiple lentigines	A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature.

Name	Type
Multiple lentigines syndrome	synonym
Progressive cardiomyopathic lentiginosis	synonym
Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome	synonym
Generalized lentiginosis	synonym
Gorlin syndrome II	synonym
Lentiginosis profusa syndrome	synonym
LEOPARD syndrome	synonym
Moynahan syndrome	synonym

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