About: syndromic microphthalmia 9

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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 recessive disease syndromic microphthalmia nodeID://b50945510
label	syndromic microphthalmia 9
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111807
has_alternative_id	DOID:0050819
database_cross_reference	MESH:C537768 OMIM:601186 ORDO:2470 SNOMEDCT_US_2021_09_01:722458000 UMLS_CUI:C1832661
has_exact_synonym	pulmonary agenesis microphthalmi and diaphragmatic defect Matthew-Wood syndrome anophthalmia-pulmonary hypoplasia syndrome spear syndrome anophthalmia/microphthalmia and pulmonary hypoplasia clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in STRA6 on chromosome 15q24.1.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945511

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