Disease Summary help help Associated Targets (249)Tbio184Tchem34Tclin20Tdark11 Explore Associated Targets list Mondo Description A developmental defect of the eye that is part of a larger syndrome. Mondo Term and Equivalent IDs MONDO:0015218: syndromic developmental defect of the eye Orphanet:108987: UMLS:CN226635: open_in_new
Disease Hierarchy help helpParentssyndromic disease (5200)Tbio3563Tchem726Tdark516Tclin395developmental defect of the eye (293)Tbio220Tchem41Tclin20Tdark12ChildrenBardet-Biedl syndrome (29)Tbio28Tdark1Williams syndrome (28)Tbio21Tdark4Tchem3syndromic microphthalmia (25)Tbio20Tchem3Tclin2Noonan syndrome (20)Tclin7Tbio7Tchem5Tdark1Meckel syndrome (19)Tbio18Tdark1Melnick-Needles syndrome (15)Tbio8Tclin5Tchem2septooptic dysplasia (10)Tbio8Tclin1Tchem1Waardenburg syndrome (10)Tbio6Tclin2Tchem1Tdark1cataract - microcornea syndrome (8)Tbio7Tchem1Turner syndrome (8)Tbio5Tchem2Tclin1Stickler syndrome (7)Tbio6Tchem1Weill-Marchesani syndrome (6)Tbio6encephalopathy due to sulfite oxidase deficiency (6)Tbio5Tclin1Treacher-Collins syndrome (5)Tbio4Tchem1Fraser syndrome (5)Tbio4Tdark1anterior segment dysgenesis 7 (5)Tbio5classic homocystinuria (4)Tbio2Tchem1Tdark1syndromic aniridia (4)Tchem2Tbio2Alagille syndrome (3)Tbio2Tchem1oculocerebrorenal syndrome (3)Tbio2Tdark1Norrie disease (3)Tbio2Tchem1Axenfeld-Rieger syndrome (3)Tbio3Rubinstein-Taybi syndrome (3)Tchem2Tbio1ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (2)Tbio2von Hippel-Lindau disease (2)Tchem2cataract-intellectual disability-hypogonadism syndrome (2)Tbio2CHARGE syndrome (2)Tbio2Laurence-Moon syndrome (2)Tbio2Marinesco-Sjogren syndrome (2)Tbio2Peters plus syndrome (2)Tbio2Noonan syndrome-like disorder with loose anagen hair (2)Tbio2phakomatosis pigmentovascularis (2)Tchem1Tbio1autosomal dominant popliteal pterygium syndrome (1)Tbio1renal coloboma syndrome (1)Tbio1Nager acrofacial dysostosis (1)Tbio1Marshall syndrome (1)Tbio1ablepharon macrostomia syndrome (1)Tbio1microphthalmia with limb anomalies (1)Tbio1Barber-Say syndrome (1)Tbio1colobomatous optic disc-macular atrophy-chorioretinopathy syndrome (1)Tbio1Stromme syndrome (1)Tbio1oculocerebrofacial syndrome, Kaufman type (1)Tbio1isolated Pierre-Robin syndrome (1)Tbio1postaxial acrofacial dysostosis (1)Tclin1Knobloch syndrome (1)Tbio1SHORT syndrome (1)Tchem1Smith-Lemli-Opitz syndrome (1)Tchem1CHIME syndrome (1)Tbio1corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome (1)Tbio1focal dermal hypoplasia (1)Tchem1facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome (1)Tbio1congenital cataracts-facial dysmorphism-neuropathy syndrome (1)Tbio1SRD5A3-CDG (1)Tbio1chromosome 13q14 deletion syndrome (1)Tchem1ankyloblepharon filiforme adnatum-cleft palate syndrome (0)cat-eye syndrome (0)cataract-aberrant oral frenula-growth delay syndrome (0)glaucoma-sleep apnea syndrome (0)GMS syndrome (0)microcornea-glaucoma-absent frontal sinuses syndrome (0)microspherophakia-metaphyseal dysplasia syndrome (0)oculocerebrocutaneous syndrome (0)ophthalmomandibulomelic dysplasia (0)nasopalpebral lipoma-coloboma syndrome (0)blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome (0)cataract-hypertrichosis-intellectual disability syndrome (0)congenital cataract-ichthyosis syndrome (0)macular coloboma-cleft palate-hallux valgus syndrome (0)frontofacionasal dysplasia (0)hypergonadotropic hypogonadism-cataract syndrome (0)megalocornea-intellectual disability syndrome (0)Nathalie syndrome (0)Acrootoocular syndrome (0)atrioventricular defect-blepharophimosis-radial and anal defect syndrome (0)Lowry-MacLean syndrome (0)microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome (0)chromosome 6pter-p24 deletion syndrome (0)familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome (0)ankyloblepharon filiforme-imperforate anus syndrome (0)blepharophimosis-radioulnar synostosis syndrome (0)cataract-intellectual disability-anal atresia-urinary defects syndrome (0)cataract-glaucoma syndrome (0)distal trisomy 14q (0)microcephaly-microcornea syndrome, Seemanova type (0)microcornea-corectopia-macular hypoplasia syndrome (0)von Hippel anomaly (0)King-Denborough syndrome (0)