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Merge PUM1-associated developmental disability-ataxia-seizure syndrom…
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…e with Spinocerebellar ataxia 47

Closes #7851

Orphanet and OMIM terms are exact. Merging PUM1-associated developmental disability-ataxia-seizure syndrome with Spinocerebellar ataxia 47. Placed label as exact synonym.
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yshwetar committed Nov 12, 2024
1 parent 17ac36f commit 4b6b072
Showing 1 changed file with 6 additions and 10 deletions.
16 changes: 6 additions & 10 deletions src/ontology/mondo-edit.obo
Original file line number Diff line number Diff line change
Expand Up @@ -511306,6 +511306,7 @@ subset: ordo_disorder {source="Orphanet:642747"}
subset: orphanet_rare {source="Orphanet:642747"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PUM1-associated developmental disability-ataxia-seizure syndrome" EXACT [MONDO:0035117]
synonym: "PUM1-related cerebellar ataxia" EXACT [Orphanet:642747]
synonym: "SCA47" RELATED ABBREVIATION [OMIM:617931]
synonym: "spinocerebellar ataxia 47" EXACT [OMIM:617931]
Expand Down Expand Up @@ -514257,21 +514258,16 @@ relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0035117
name: PUM1-associated developmental disability-ataxia-seizure syndrome
def: "A rare genetic syndromic intellectual disability characterized by developmental delay, intellectual disability, ataxia, and, more variably, seizures and short stature. Behavioral abnormalities may also be observed, as well as variable facial and other dysmorphic features (such as broad nasal bridge, hypertelorism, almond-shaped eyes, high-arched palate, and anomalies of the fingers and toes). Brain imaging may reveal dilated ventricles, small corpus callosum, or posterior fossa abnormalities." [Orphanet:589515]
name: obsolete PUM1-associated developmental disability-ataxia-seizure syndrome
def: "OBSOLETE. A rare genetic syndromic intellectual disability characterized by developmental delay, intellectual disability, ataxia, and, more variably, seizures and short stature. Behavioral abnormalities may also be observed, as well as variable facial and other dysmorphic features (such as broad nasal bridge, hypertelorism, almond-shaped eyes, high-arched palate, and anomalies of the fingers and toes). Brain imaging may reveal dilated ventricles, small corpus callosum, or posterior fossa abnormalities." [Orphanet:589515]
comment: Reason of obsoletion: duplicate. This will be merged with MONDO:0033482 Spinocerebellar ataxia 47
subset: gard_rare {source="GARD:22351", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: ordo_disorder {source="Orphanet:589515"}
subset: orphanet_rare {source="Orphanet:589515"}
subset: rare
xref: GARD:22351 {source="MONDO:GARD"}
xref: Orphanet:589515 {source="MONDO:equivalentTo"}
xref: Orphanet:589515 {source="MONDO:obsoleteEquivalent"}
is_a: MONDO:0015653 {source="Orphanet:589515"} ! monogenic epilepsy
is_a: MONDO:0019792 {source="Orphanet:589515"} ! autosomal dominant cerebellar ataxia type I
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7851" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
is_obsolete: true
replaced_by: MONDO:0033482

[Term]
id: MONDO:0035121
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