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anophthalmia plus syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested.
Mondo Term and Equivalent IDs
MONDO:0010930:  anophthalmia plus syndrome
GARD:0000719: 
MESH:C537767: 
Orphanet:1104: 
SCTID:720496006: 
UMLS:C1833339: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found