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add superclass to neurodegeneration, childhood-onset, with ataxia, tr… #8769

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Feb 25, 2025
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add superclass to neurodegeneration, childhood-onset, with ataxia, tr… #8769

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add superclass to neurodegeneration, childhood-onset, with ataxia, tr…
nicolevasilevsky Feb 23, 2025
11175b5
update superclass to 'inherited neurodegenerative disease'
nicolevasilevsky Feb 25, 2025
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32 changes: 19 additions & 13 deletions src/ontology/mondo-edit.obo
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Original file line number Diff line number Diff line change
Expand Up @@ -346044,6 +346044,7 @@ xref: MEDGEN:934660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617145 {source="MONDO:equivalentTo"}
xref: UMLS:C4310693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934660"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0024237 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited neurodegenerative disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11280 {source="MONDO:mim2gene_medgen", source="OMIM:617145"} ! SQSTM1

[Term]
Expand Down Expand Up @@ -499102,13 +499103,14 @@ id: MONDO:0030028
name: neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
subset: otar {source="MONDO:OTAR"}
synonym: "CONATOC" EXACT ABBREVIATION [OMIM:618868]
synonym: "NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE" EXACT [OMIM:618868]
synonym: "neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline" EXACT [OMIM:618868]
xref: MEDGEN:1715031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618868 {source="MONDO:equivalentTo"}
xref: UMLS:C5394335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1715031"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0024237 {source="https://orcid.org/0000-0001-6330-7526"} ! inherited neurodegenerative disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18798 {source="OMIM:618868"} ! SLC44A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8492" xsd:anyURI

[Term]
id: MONDO:0030029
Expand Down Expand Up @@ -504128,14 +504130,15 @@ subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:610573"}
subset: orphanet_rare {source="Orphanet:610573"}
subset: rare
synonym: "CONRIBA" EXACT ABBREVIATION []
synonym: "CONRIBA" EXACT ABBREVIATION [OMIM:619173]
synonym: "neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities" EXACT []
xref: GARD:18023 {source="MONDO:GARD"}
xref: MEDGEN:1781967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619173 {source="MONDO:equivalentTo"}
xref: Orphanet:610573 {source="MONDO:equivalentTo"}
xref: UMLS:C5543020 {source="MEDGEN:1781967", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0024237 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited neurodegenerative disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2024 {source="OMIM:619173"} ! CLCN6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

Expand Down Expand Up @@ -504746,6 +504749,7 @@ xref: MEDGEN:1779901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619259 {source="MONDO:equivalentTo"}
xref: UMLS:C5543254 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1779901"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0024237 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited neurodegenerative disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10680 {source="OMIM:619259"} ! SDHA

[Term]
Expand Down Expand Up @@ -507157,12 +507161,12 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/
[Term]
id: MONDO:0032650
name: neurodegeneration, childhood-onset, with cerebellar atrophy
synonym: "CONDCA" RELATED ABBREVIATION []
synonym: "NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY" RELATED []
synonym: "CONDCA" EXACT ABBREVIATION [OMIM:618276]
xref: MEDGEN:1648286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618276 {source="MONDO:equivalentTo"}
xref: UMLS:C4748934 {source="MEDGEN:1648286", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618276"} ! hereditary disease
is_a: MONDO:0024237 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited neurodegenerative disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17258 {source="OMIM:618276"} ! AGTPBP1

[Term]
Expand Down Expand Up @@ -508612,12 +508616,12 @@ relationship: curated_content_resource https://search.clinicalgenome.org/kb/cond
[Term]
id: MONDO:0032758
name: neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
synonym: "NDCAMA" RELATED ABBREVIATION []
synonym: "NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA" RELATED []
synonym: "NDCAMA" EXACT ABBREVIATION [OMIM:618451]
xref: MEDGEN:1676579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618451 {source="MONDO:equivalentTo"}
xref: UMLS:C5193104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1676579"}
is_a: MONDO:0003847 {source="OMIM:618451"} ! hereditary disease
is_a: MONDO:0024237 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited neurodegenerative disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6115 {source="OMIM:618451"} ! IREB2

[Term]
Expand Down Expand Up @@ -513092,14 +513096,14 @@ is_a: MONDO:0018158 {source="DOID:0070450", source="OMIM:618972"} ! mitochondria
id: MONDO:0033546
name: neurodegeneration, infantile-onset, biotin-responsive
subset: otar {source="MONDO:OTAR"}
synonym: "NERIB" RELATED ABBREVIATION []
synonym: "NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE" RELATED []
synonym: "Smvt Deficiency" RELATED []
synonym: "Sodium-Dependent Multivitamin Transporter Deficiency" RELATED []
synonym: "NERIB" EXACT ABBREVIATION [OMIM:618973]
synonym: "SMVT deficiency" EXACT [OMIM:618973]
synonym: "sodium-dependent multivitamin transporter deficiency" EXACT [OMIM:618973]
xref: MEDGEN:1771692 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618973 {source="MONDO:equivalentTo"}
xref: UMLS:C5436520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1771692"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0024237 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited neurodegenerative disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11041 {source="OMIM:618973"} ! SLC5A6

[Term]
Expand Down Expand Up @@ -536819,7 +536823,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520
[Term]
id: MONDO:0100095
name: neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
def: "Autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene." [https://orcid.org/0000-0002-4650-631X, PMID:3010008, PMID:30401461]
def: "An autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene." [https://orcid.org/0000-0002-4650-631X, PMID:3010008, PMID:30401461]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
Expand All @@ -536831,7 +536835,7 @@ xref: OMIM:618170 {source="MONDO:equivalentTo"}
xref: UMLS:C4748527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648391"}
is_a: MONDO:0003847 {source="OMIM:618170"} ! hereditary disease
is_a: MONDO:0006025 {source="DOID:0070352"} ! autosomal recessive disease
is_a: MONDO:0024237 ! inherited neurodegenerative disorder
is_a: MONDO:0024237 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited neurodegenerative disorder
relationship: has_characteristic HP:0000007 {source="PMID:30401461"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21304 {source="OMIM:618170"} ! ADPRS
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
Expand Down Expand Up @@ -558731,6 +558735,7 @@ xref: MEDGEN:1841021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620306 {source="MONDO:equivalentTo"}
xref: UMLS:C5830385 {source="MEDGEN:1841021", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:620306"} ! hereditary disease
is_a: MONDO:0024237 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited neurodegenerative disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11016 {source="OMIM:620306"} ! SLC31A1

[Term]
Expand Down Expand Up @@ -558815,7 +558820,7 @@ xref: MEDGEN:1841069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620327 {source="MONDO:equivalentTo"}
xref: UMLS:C5830433 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841069"}
is_a: MONDO:0003847 {source="OMIM:620327"} ! hereditary disease
is_a: MONDO:0005559 {source="https://orcid.org/0000-0001-5208-3432"} ! neurodegenerative disease
is_a: MONDO:0024237 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited neurodegenerative disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/32687 {source="OMIM:620327"} ! MED11

[Term]
Expand Down Expand Up @@ -560781,6 +560786,7 @@ xref: MEDGEN:1847831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620636 {source="MONDO:equivalentTo"}
xref: UMLS:C5882726 {source="MEDGEN:1847831", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:620636"} ! hereditary disease
is_a: MONDO:0024237 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited neurodegenerative disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6743 {source="OMIM:620636"} ! CAPRIN1

[Term]
Expand Down