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add superclass and additional annotations to MONDO:0024308
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closes #1015
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nicolevasilevsky committed Jan 2, 2020
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6 changes: 5 additions & 1 deletion src/ontology/mondo-edit.obo
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Expand Up @@ -279824,7 +279824,7 @@ xref: UMLS:C3808991 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"
is_a: MONDO:0000508 {source="Orphanet:404454"} ! syndromic intellectual disability
is_a: MONDO:0019214 {source="DOID:0060728"} ! inborn carbohydrate metabolic disorder
is_a: MONDO:0019602 {source="Orphanet:404454"} ! other inborn metabolic disease
relationship: disease_has_basis_in_disruption_of GO:0000224 ! peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity
relationship: disease_has_basis_in_disruption_of GO:0000224
relationship: disease_has_basis_in_disruption_of GO:0006517 ! protein deglycosylation
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17646 {source="mim2gene_medgen"} ! NGLY1
relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare
Expand Down Expand Up @@ -407180,11 +407180,15 @@ is_a: MONDO:0002243 {source="MONDO:cjm"} ! hemorrhagic disease
[Term]
id: MONDO:0024308
name: pseudoxanthoma elasticum (inherited or acquired)
def: "An inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract." [GARD:0009643]
synonym: "pseudoxanthoma elasticum" EXACT []
synonym: "PXE" EXACT [GARD:0009643]
xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"}
xref: SCTID:252246005 {source="MONDO:equivalentTo"}
is_a: MONDO:0002051 ! integumentary system disease
is_a: MONDO:0003847 {source="https://ghr.nlm.nih.gov/condition/pseudoxanthoma-elasticum", source="https://github.com/monarch-initiative/mondo/issues/1015", source="https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum"} ! inherited genetic disease
relationship: disease_has_location GO:0071953 ! elastic fiber
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum xsd:string

[Term]
id: MONDO:0024309
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