Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	Moebius syndrome
Synonyms	Oromandibular-limb hypogenesis spectrum
Definitions	A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s). OMIM mapping confirmed by DO. [SN].
ID	http://purl.obolibrary.org/obo/DOID_13501
comment	OMIM mapping confirmed by DO. [SN].
database_cross_reference	MESH:D020331 UMLS_CUI:C0221060 ICD10CM:Q87.0 GARD:8549 NCI:C84893 SNOMEDCT_US_2022_09_01:89444000 OMIM:157900
definition	A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s).
has exact synonym	Oromandibular-limb hypogenesis spectrum Mobius syndrome Moebius congenital oculofacial paralysis
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has symptom	http://purl.obolibrary.org/obo/SYMP_0000094
has_obo_namespace	disease_ontology
id	DOID:13501
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim http://purl.obolibrary.org/obo/doid#NCIthesaurus
label	Moebius syndrome
notation	DOID:13501
prefLabel	Moebius syndrome
subClassOf	http://purl.obolibrary.org/obo/DOID_0050736 http://purl.obolibrary.org/obo/DOID_1756

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/157900	Online Mendelian Inheritance in Man	LOOM