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Issue 7964 #8390

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merged 3 commits into from
Nov 14, 2024
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Issue 7964 #8390

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8c21e97
MONDO:0014606- Spelling Error in Definition
katiermullen Nov 14, 2024
099331c
Update mondo-edit.obo
katiermullen Nov 14, 2024
9aed6c0
Update mondo-edit.obo
sabrinatoro Nov 14, 2024
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5 changes: 3 additions & 2 deletions src/ontology/mondo-edit.obo
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Expand Up @@ -309897,7 +309897,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:280576"}
subset: orphanet_rare {source="Orphanet:280576"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BANF1-related neurodevelopmental syndrome" EXACT CLINGEN_LABEL [https://search.clinicalgenome.org/CCID:008387]
synonym: "BANF1-related neurodevelopmental syndrome" EXACT CLINGEN_LABEL [https://search.clinicalgenome.org/CCID\:008387]
synonym: "Nestor-Guillermo progeria syndrome" EXACT [MONDO:Lexical, OMIM:614008]
synonym: "NGPS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614008, Orphanet:280576]
synonym: "progeria syndrome, childhood-onset, with osteolysis" RELATED [OMIM:614008]
Expand Down Expand Up @@ -337378,7 +337378,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/
[Term]
id: MONDO:0014606
name: intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
def: "Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation)." [Orphanet:468678]
def: "Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressiveness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation)." [Orphanet:468678]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:13774", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
Expand Down Expand Up @@ -337411,6 +337411,7 @@ relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070067", source="
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18801 {source="MONDO:mim2gene_medgen"} ! POGZ
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7964" xsd:anyURI

[Term]
id: MONDO:0014607
Expand Down
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