Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	King Denborough syndrome
Definitions	A myopathy that is characterized by distinctive facies, ptosis, downslanted palpebral fissures, widely spaced eyes, epicanthal folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, single palmar crease, pectus excavatum, winging of the scapulae, lumbar lordosis, and mild thoracic scoliosis. Pathogenic variants in RYR1 have been found in some individuals with King-Denborough syndrome.
ID	http://purl.obolibrary.org/obo/DOID_0080990
database_cross_reference	OMIM:145600 ORDO:99741 MESH:C536883 GARD:8433
definition	A myopathy that is characterized by distinctive facies, ptosis, downslanted palpebral fissures, widely spaced eyes, epicanthal folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, single palmar crease, pectus excavatum, winging of the scapulae, lumbar lordosis, and mild thoracic scoliosis. Pathogenic variants in RYR1 have been found in some individuals with King-Denborough syndrome.
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace	disease_ontology
id	DOID:0080990
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	King Denborough syndrome
notation	DOID:0080990
prefLabel	King Denborough syndrome
subClassOf	http://purl.obolibrary.org/obo/DOID_423 http://purl.obolibrary.org/obo/DOID_0050736

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C536883	Medical Subject Headings	LOOM