About: hypertelorism, microtia, facial clefting syndrome

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About: hypertelorism, microtia, facial clefting syndrome Goto Sponge Distinct Permalink

An Entity of Type : owl:Class, within Data Space : demo.openlinksw.com associated with source document(s)

OMIM mapping confirmed by DO. [SN].

Attributes	Values
type	Class
subClassOf	autosomal recessive disease syndrome nodeID://b50949699
label	hypertelorism, microtia, facial clefting syndrome
comment	OMIM mapping confirmed by DO. [SN].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:14670
database_cross_reference	MESH:C537632 OMIM:239800 ORDO:2213 SNOMEDCT_US_2021_09_01:721836009 UMLS_CUI:C0220742
has_exact_synonym	Bixler Christian Gorlin syndrome (en) Bixler syndrome (en) Bixler-Christian-Gorlin syndrome (en) HMC syndrome (en) Hypertelorism-Microtia-Clefting Syndrome (en) Hypertelorism-microtia-facial clefting syndrome (en)
has_obo_namespace	disease_ontology
in_subset	DO_rare_slim
http://purl.obolib...g/obo/IAO_0000115	A syndrome that is characterized by the combination of hypertelorism, cleft lip and palate and microtia.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50949700

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