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split narcolepsy into narcolepsy and hereditary narcolepsy (#7477)
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* split narcolepsy into narcolepsy and hereditary narcolepsy

close #7264

* update narcolepsy terms
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@nicolevasilevsky
nicolevasilevsky committed Mar 25, 2024
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Showing 1 changed file with 33 additions and 22 deletions.
55 changes: 33 additions & 22 deletions src/ontology/mondo-edit.obo
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Expand Up @@ -156816,7 +156816,6 @@ synonym: "cataplexy" RELATED [OMIM:161400]
synonym: "HCRT narcolepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "narcolepsy 1" EXACT [MONDO:Lexical, OMIM:161400]
synonym: "narcolepsy caused by mutation in HCRT" EXACT [MONDO:design_pattern]
synonym: "narcolepsy type 1" EXACT [MONDORULE:1, OMIM:161400]
synonym: "narcoleptic syndrome 1" RELATED [OMIM:161400]
synonym: "NRCLP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:161400]
xref: GARD:15091 {source="OMIM:161400"}
Expand All @@ -156828,7 +156827,7 @@ xref: SCTID:46263000 {source="MONDO:equivalentTo"}
xref: UMLS:C0007384 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:161400"}
xref: UMLS:C1834372 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:161400"}
is_a: MONDO:0016158 {source="Orphanet:2073/btnt"} ! narcolepsy-cataplexy syndrome
is_a: MONDO:0021107 {source="MONDO:Redundant", source="OMIM:161400"} ! narcolepsy
is_a: MONDO:0100554 {source="MONDO:Redundant", source="OMIM:161400"} ! hereditary narcolepsy
intersection_of: MONDO:0021107 ! narcolepsy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4847 ! HCRT
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4847 {source="MONDO:mim2gene_medgen"} ! HCRT
Expand Down Expand Up @@ -262669,7 +262668,7 @@ xref: OMIM:609039 {source="MONDO:equivalentTo"}
xref: Orphanet:2073 {source="OMIM:609039"}
xref: UMLS:C1836907 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609039"}
is_a: MONDO:0016158 {source="DC-OMIM:609039"} ! narcolepsy-cataplexy syndrome
is_a: MONDO:0021107 {source="MONDO:Redundant", source="OMIM:609039"} ! narcolepsy
is_a: MONDO:0100554 {source="MONDO:Redundant", source="OMIM:609039"} ! hereditary narcolepsy

[Term]
id: MONDO:0012180
Expand Down Expand Up @@ -298192,7 +298191,7 @@ xref: OMIM:614250 {source="MONDO:equivalentTo"}
xref: Orphanet:2073 {source="OMIM:614250"}
xref: UMLS:C3280266 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614250"}
is_a: MONDO:0016158 {source="Orphanet:2073/btnt"} ! narcolepsy-cataplexy syndrome
is_a: MONDO:0021107 {source="MONDO:Redundant", source="OMIM:614250"} ! narcolepsy
is_a: MONDO:0100554 {source="MONDO:Redundant", source="OMIM:614250"} ! hereditary narcolepsy
intersection_of: MONDO:0021107 ! narcolepsy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7197 ! MOG
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7197 {source="MONDO:mim2gene_medgen"} ! MOG
Expand Down Expand Up @@ -353465,20 +353464,21 @@ is_obsolete: true
[Term]
id: MONDO:0016158
name: narcolepsy-cataplexy syndrome
def: "Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions)." [Orphanet:2073]
def: "A type of narcolepsy characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions)." [https://orcid.org/0000-0001-5208-3432, Orphanet:2073]
comment: This term is also known as narcolepsy type 1 and is different from the hereditary form, narcolepsy 1 (MONDO:0008062).
subset: gard_rare {source="GARD:7162"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disease {source="Orphanet:2073"}
subset: orphanet_rare {source="Orphanet:2073"}
subset: rare
synonym: "GC)lineau disease" EXACT [Orphanet:2073]
synonym: "Gelineau syndrome" RELATED [GARD:0007162]
synonym: "Gelineau's syndrome" RELATED [GARD:0007162]
synonym: "Gelineau disease" EXACT [Orphanet:2073]
synonym: "Gelineau syndrome" EXACT [GARD:0007162]
synonym: "Gelineau's syndrome" EXACT [GARD:0007162]
synonym: "Gélineau disease" EXACT [Orphanet:2073]
synonym: "narcolepsy type 1" EXACT [https://orcid.org/0000-0001-9310-0163, https://www.ninds.nih.gov/health-information/disorders/narcolepsy]
synonym: "narcolepsy with cataplexy" EXACT [MONDO:0005069]
synonym: "narcolepsy-cataplexy syndrome" EXACT [GARD:0007162]
synonym: "narcoleptic syndrome" RELATED [GARD:0007162]
synonym: "paroxysmal sleep" RELATED [GARD:0007162]
xref: DOID:8986 {source="EFO:0000614"}
xref: EFO:0000614 {source="MONDO:equivalentTo"}
xref: GARD:7162 {source="Orphanet:2073"}
Expand All @@ -353500,6 +353500,7 @@ is_a: MONDO:0021107 {source="https://orcid.org/0000-0002-6601-2165"} ! narcoleps
disjoint_from: MONDO:0019371 ! narcolepsy without cataplexy
relationship: disease_has_feature HP:0002524 ! Cataplexy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019045"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7264" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7162/narcolepsy" xsd:anyURI {source="GARD:0007162"}

[Term]
Expand Down Expand Up @@ -418445,24 +418446,27 @@ is_a: MONDO:0002263 {source="MONDO:0015859-obsoleted", source="https://orcid.org
[Term]
id: MONDO:0019371
name: narcolepsy without cataplexy
def: "Narcolepsy without cataplexy is characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior." [Orphanet:83465]
def: "A type of narcolepsy characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior." [https://orcid.org/0000-0001-5208-3432, Orphanet:83465]
comment: This term is also known as narcolepsy type 2 and is different from MONDO:0011607 narcolepsy 2, susceptibility to.
subset: gard_rare {source="GARD:19038"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disease {source="Orphanet:83465"}
subset: orphanet_rare {source="Orphanet:83465"}
subset: rare
synonym: "narcolepsy type 2" EXACT [https://orcid.org/0000-0001-9310-0163, https://www.ninds.nih.gov/health-information/disorders/narcolepsy, Orphanet:83465]
xref: EFO:0005855 {source="MONDO:equivalentTo"}
xref: GARD:19038 {source="Orphanet:83465"}
xref: ICD10CM:G47.4 {source="Orphanet:83465/ntbt", source="Orphanet:83465", source="MONDO:directSiblingOf"}
xref: ICD10CM:G47.419 {source="MONDO:equivalentTo"}
xref: ICD9:347.00 {source="EFO:0005855"}
xref: ICD9:347.00 {source="MONDO:equivalentTo", source="EFO:0005855"}
xref: Orphanet:83465 {source="MONDO:equivalentTo"}
xref: SCTID:91521000119104 {source="MONDO:equivalentTo", source="EFO:0005855"}
xref: UMLS:C1456240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003406 {source="EFO:0005855", source="ICD10CM:G47.419", source="MONDO:Redundant", source="Orphanet:83465"} ! sleep-wake disorder
is_a: MONDO:0021107 {source="https://orcid.org/0000-0001-5208-3432"} ! narcolepsy
relationship: disease_has_location UBERON:0000955 {source="EFO:0000784"} ! brain
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019045"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7264" xsd:anyURI

[Term]
id: MONDO:0019372
Expand Down Expand Up @@ -448262,25 +448266,18 @@ intersection_of: disease_has_basis_in_dysfunction_of GO:0005652 ! nuclear lamina
id: MONDO:0021107
name: narcolepsy
def: "A sleep disorder characterized by a tendency for excessive sleepiness during the day which occurs even after adequate sleep in the nighttime. The persons who suffer from this condition experience fatigue and may fall asleep at inappropriate times during the day." [NCIT:C84489]
subset: gard_rare {source="GARD:22460"}
subset: orphanet_rare {source="Orphanet:619284"}
subset: rare
synonym: "narcolepsy" EXACT [NCIT:C84489]
synonym: "narcolepsy with or without cataplexy" EXACT [Orphanet:619284]
synonym: "narcolepsy, without cataplexy" NARROW [DOID:8986]
synonym: "paroxysmal sleep" EXACT [DOID:8986]
xref: DOID:8986 {source="MONDO:equivalentTo"}
xref: EFO:0000614 {source="DOID:8986"}
xref: GARD:22460 {source="Orphanet:619284"}
xref: ICD9:347.00 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MESH:D009290 {source="DOID:8986", source="Orphanet:2073/e", source="MONDO:equivalentTo", source="Orphanet:2073"}
xref: NCIT:C84489 {source="MONDO:equivalentTo"}
xref: NORD:1490 {source="MONDO:NORD"}
xref: OMIMPS:161400 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:619284 {source="MONDO:equivalentTo"}
xref: SCTID:60380001 {source="MONDO:equivalentTo"}
xref: UMLS:C0027404 {source="DOID:8986", source="Orphanet:2073/e", source="MONDO:equivalentTo", source="Orphanet:2073", source="NCIT:C84489"}
is_a: MONDO:0003406 {source="DOID:8986", source="MESH:D009290/inferred", source="NCIT:C84489"} ! sleep-wake disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:161400"} ! inherited
is_a: MONDO:0003406 {source="https://orcid.org/0000-0001-5208-3432"} ! sleep-wake disorder
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7264" xsd:anyURI

[Term]
id: MONDO:0021108
Expand Down Expand Up @@ -514475,6 +514472,20 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6781" xsd:anyURI

[Term]
id: MONDO:0100554
name: hereditary narcolepsy
def: "An instance of narcolepsy that is caused by an inherited genomic modification in an individual." [MONDO:patterns/hereditary]
subset: gard_rare {source="GARD:22460"}
subset: orphanet_rare {source="Orphanet:619284"}
subset: rare
xref: OMIMPS:161400 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
is_a: MONDO:0021107 {source="DOID:8986", source="MESH:D009290/inferred", source="NCIT:C84489"} ! narcolepsy
intersection_of: MONDO:0021107 ! narcolepsy
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:161400"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7264" xsd:anyURI

[Term]
id: MONDO:0200000
name: uterine ligament adenosarcoma
Expand Down

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