. "ORDO:2470"^^ . "DOID:0050819"^^ . "UMLS_CUI:C1832661"^^ . "pulmonary agenesis microphthalmi and diaphragmatic defect"^^ . "anophthalmia-pulmonary hypoplasia syndrome"^^ . _:vb50945510 . "clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations"^^ . "disease_ontology"^^ . _:vb50945510 . "spear syndrome"^^ . . "OMIM:601186"^^ . "anophthalmia/microphthalmia and pulmonary hypoplasia"^^ . "Matthew-Wood syndrome"^^ . _:vb50945510 . "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."^^ . . _:vb50945510 . "SNOMEDCT_US_2021_09_01:722458000"^^ . "DOID:0111807"^^ . "syndromic microphthalmia 9"^^ . . "MESH:C537768"^^ . _:vb50945510 .