About: syndromic microphthalmia 6

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal dominant disease syndromic microphthalmia nodeID://b50945506
label	syndromic microphthalmia 6
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111805
database_cross_reference	GARD:3645 MESH:C566440 OMIM:607932 ORDO:139471 UMLS_CUI:C1864689
has_exact_synonym	Bakrania-Ragge syndrome MCOPS6 microphthalmia and pituitary anomalies microphthalmia with brain and digit anomalies anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia syndromic microphthalmia type 6
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in BMP4 on chromosome 14q22.2.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945507

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