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Disease association ontology term - MONDO:0021060 - RASopathy

Term summary

ID
MONDO:0021060
Name
RASopathy
Ontology or CV name
Disease association
Definition
Developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction.

Parents

Annotation

Disease association

MONDO:0021060 - RASopathy

References:

Genes:

MONDO:0015280 - cardiofaciocutaneous syndrome

References:

Genes:

MONDO:0007265 - cardiofaciocutaneous syndrome 1

References:

Genes:

MONDO:0014112 - cardiofaciocutaneous syndrome 2

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Genes:

MONDO:0014113 - cardiofaciocutaneous syndrome 3

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Genes:

MONDO:0014114 - cardiofaciocutaneous syndrome 4

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Genes:

MONDO:0009026 - Costello syndrome

References:

Genes:

MONDO:0018997 - Noonan syndrome

References:

Genes:

MONDO:0033669 - Noonan syndrome 13

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Genes:

MONDO:0012371 - Noonan syndrome 3

References:

Genes:

MONDO:0013186 - Noonan syndrome 6

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Genes:

MONDO:0054588 - Noonan syndrome-like disorder with loose anagen hair 2

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Genes: