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Matthew-Wood syndrome

Disease Summary
Associated Targets (2)
Tclin

1

Tbio

1


Explore Associated Targets
Mondo Description Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.
Uniprot Description A rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities.
Disease Ontology Description An autosomal genetic disease that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect.
Mondo Term and Equivalent IDs
MONDO:0011010:  Matthew-Wood syndrome
GARD:0000713: 
MESH:C537768: 
Orphanet:2470: 
SCTID:722458000: 
UMLS:C1832661: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)