From 2623627e6ac94cf25e24e44c1ad029a5390d8561 Mon Sep 17 00:00:00 2001 From: katiermullen <102704401+katiermullen@users.noreply.github.com> Date: Thu, 14 Nov 2024 14:00:36 -0700 Subject: [PATCH] Issue 7964 (#8390) * MONDO:0014606- Spelling Error in Definition Closes #7964 * Update mondo-edit.obo * Update mondo-edit.obo --------- Co-authored-by: Sabrina Toro --- src/ontology/mondo-edit.obo | 3 ++- 1 file changed, 2 insertions(+), 1 deletion(-) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index ba36ca36d4..911cdb3e38 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -337380,7 +337380,7 @@ 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"} @@ -337413,6 +337413,7 @@ 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