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Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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split juvenile myoclonic epilepsy #1348

Closed cmungall closed 4 years ago

cmungall commented 4 years ago

this groups a generic disease and a gene-specific subtype

id: MONDO:0009696
name: juvenile myoclonic epilepsy
def: "Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." [Orphanet:307]
subset: gard_rare {source="GARD:0006808"}
subset: ordo_disease {source="Orphanet:307"}
subset: predisposition
synonym: "EJM" RELATED [MONDO:Lexical, OMIM:254770]
synonym: "epilepsy, myoclonic juvenile" RELATED [MONDO:Lexical, OMIM:254770]
synonym: "epilepsy, myoclonic juvenile; EJM" RELATED [OMIM:254770]
synonym: "Janz syndrome" NARROW [DOID:4890]
synonym: "Janz syndrome" RELATED [OMIM:254770]
synonym: "JME" EXACT [Orphanet:307]
synonym: "juvenile myoclonus epilepsy" EXACT [Orphanet:307]
synonym: "myoclonic epilepsy, juvenile" RELATED [OMIM:254770]
synonym: "myoclonic epilepsy, juvenile, 1" RELATED [GARD:0006808]
synonym: "myoclonic epilepsy, juvenile, susceptibility to, 1" RELATED [OMIM:254770]
synonym: "Petit Mal, impulsive" RELATED [OMIM:254770]
xref: DOID:4890 {source="MONDO:equivalentTo"}
xref: EFO:0006572 {source="MONDO:equivalentTo"}
xref: GARD:0006808 {source="MONDO:equivalentTo"}
xref: ICD10:G40.3 {source="Orphanet:307", source="ORDO:307/attributed", source="ORDO:307/ntbt"}
xref: ICD9:345.10 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10071082 {source="ORDO:307/e", source="Orphanet:307"}
xref: MESH:D020190 {source="ORDO:307/e", source="MONDO:equivalentTo", source="Orphanet:307", source="MONDO:ontobio", source="DOID:4890"}
xref: NCIT:C84796 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:4890"}
xref: OMIM:254770 {source="ORDO:307/e", source="MONDO:equivalentTo", source="Orphanet:307", source="DOID:4890"}
xref: OMIM:604827 {source="MONDO:relatedTo", source="ORDO:307/ntbt"}
xref: OMIM:606904 {source="GARD:0006808"}
xref: OMIM:607628 {source="MONDO:superClassOf", source="ORDO:307/ntbt"}
xref: OMIM:607682 {source="MONDO:superClassOf", source="ORDO:307/ntbt"}
xref: OMIM:608816 {source="MONDO:superClassOf", source="ORDO:307/btnt"}
xref: OMIM:611136 {source="MONDO:superClassOf", source="ORDO:307/ntbt"}
xref: OMIM:611364 {source="MONDO:superClassOf", source="ORDO:307/btnt"}
xref: OMIM:613060 {source="MONDO:superClassOf", source="ORDO:307/ntbt"}
xref: OMIM:614280 {source="MONDO:superClassOf", source="ORDO:307/btnt"}
xref: Orphanet:307 {source="MONDO:equivalentTo", source="OMIM:254770"}
xref: Orphanet:862 {source="DOID:4890"}
xref: SCTID:6204001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:4890"}
xref: UMLS:C0270853 {source="ORDO:307/e", source="MONDO:equivalentTo", source="OMIM:254770", source="Orphanet:307", source="DOID:4890", source="NCIT:C84796"}
xref: UMLS:C1850778 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:254770"}
is_a: MONDO:0000415 {source="DOID:4890"} ! adolescence-adult electroclinical syndrome
is_a: MONDO:0005027 {source="DOID:4890/inferred", source="MESH:D020190/inferred", source="MONDO:Redundant", source="NCIT:C84796", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! epilepsy
is_a: MONDO:0017654 {source="Orphanet:307"} ! non progressive epilepsy and/or ataxia with myoclonus as a major feature
is_a: MONDO:0017704 {source="Orphanet:307"} ! familial partial epilepsy
is_a: MONDO:0100030 {source="http://orcid.org/0000-0001-8486-0558"} ! adolescent/adult-onset epilepsy syndrome
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16406 {source="mim2gene_medgen"} ! EFHC1
relationship: disease_has_feature HP:0001336 ! Myoclonus
property_value: confidence "1.1309583424662981" xsd:double
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6808/juvenile-myoclonic-epilepsy xsd:anyURI {source="GARD:0006808"}
cmungall commented 4 years ago

https://omim.org/entry/254770

EPILEPSY, MYOCLONIC JUVENILE; EJM

Alternative titles; symbols

MYOCLONIC EPILEPSY, JUVENILE; JME PETIT MAL, IMPULSIVE JANZ SYNDROME

Other entities represented in this entry:

MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1, INCLUDED; EJM1, INCLUDED

the entry is named generically, the same as the PS https://omim.org/phenotypicSeries/PS254770

but it refers to a susceptibility conferred by a specific gene