RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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 the STRA6 gene on chromosome 15q24.1. (DO)
Synonyms:
exact_synonym:
Anophthalmia with Pulmonary Hypoplasia; ISOLATED ANOPHTHALMIA-MICROPHTHALMIA SYNDROME; MCOPS9; Matthew-Wood syndrome; Spear Syndrome; anophthalmia-pulmonary hypoplasia syndrome; anophthalmia/microphthalmia and pulmonary hypoplasia; clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations; clinical anophthalmia with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm; pulmonary agenesis microphthalmi and diaphragmatic defect; syndromic microphthalmia type 9
narrow_synonym:
MCOPCB8; PMD MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8; PULMONARY AGENESIS, MICROPHTHALMIA, AND DIAPHRAGMATIC DEFECT
CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human) ClinVar Annotator: match by term: Matthew-Wood syndrome | ClinVar Annotator: match by term: Microphthalmia syndromic 9 | ClinVar Annotator: match by term: Pulmonary agenesis microphthalmi and diaphragmatic defect