TaoMedAI/RareMedData huggingface dataset:
Gene: ALG9
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Low-set ears (HP:0000369)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Low-set ears (HP:0000369)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Low-set ears (HP:0000369)
Associated disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Gene: ALG9
Phenotype: Long philtrum (HP:0000343)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Long philtrum (HP:0000343)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Pyelonephritis (HP:0012330)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG9
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG9
Phenotype: Micrognathia (HP:0000347)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Micrognathia (HP:0000347)
Associated disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Gene: ALG9
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Gene: ALG9
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Hypertelorism (HP:0000316)
Associated disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Gene: ALG9
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Flank pain (HP:0030157)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG9
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Gene: ALG9
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Microretrognathia (HP:0000308)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG9
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG9
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Hypoplasia of the bladder (HP:0005343)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG9
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Inappropriate crying (HP:0030215)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Delayed myelination (HP:0012448)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Torticollis (HP:0000473)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Gene: ALG9
Phenotype: Short neck (HP:0000470)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Short neck (HP:0000470)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Short neck (HP:0000470)
Associated disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Gene: ALG9
Phenotype: Abnormal left ventricular outflow tract morphology (HP:0011103)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Gene: ALG9
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Splenomegaly (HP:0001744)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Gene: ALG9
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG9
Phenotype: Proptosis (HP:0000520)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Proptosis (HP:0000520)
Associated disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Gene: ALG9
Phenotype: Telecanthus (HP:0000506)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Telecanthus (HP:0000506)
Associated disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Gene: ALG9
Phenotype: Abnormal urinary electrolyte concentration (HP:0012591)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG9
Phenotype: Albuminuria (HP:0012592)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG9
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Shallow orbits (HP:0000586)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Esotropia (HP:0000565)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Esotropia (HP:0000565)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZNF408
Phenotype: Retinal exudate (HP:0001147)
Associated disease: EXUDATIVE VITREORETINOPATHY 6 (OMIM:616468)
Gene: ZNF408
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF408
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 72 (OMIM:616469)
Gene: ZNF408
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: ZNF408
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF408
Phenotype: Motor delay (HP:0001270)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: ZNF408
Phenotype: Vitreous floaters (HP:0100832)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: ZNF408
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: ZNF408
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 72 (OMIM:616469)
Gene: ZNF408
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF408
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EXUDATIVE VITREORETINOPATHY 6 (OMIM:616468)
Gene: ZNF408
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF408
Phenotype: Falciform retinal fold (HP:0001493)
Associated disease: EXUDATIVE VITREORETINOPATHY 6 (OMIM:616468)
Gene: ZNF408
Phenotype: Falciform retinal fold (HP:0001493)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: ZNF408
Phenotype: Posterior vitreous detachment (HP:0001489)
Associated disease: EXUDATIVE VITREORETINOPATHY 6 (OMIM:616468)
Gene: ZNF408
Phenotype: Peripheral retinal avascularization (HP:0007685)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: ZNF408
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF408
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF408
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 72 (OMIM:616469)
Gene: ZNF408
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: EXUDATIVE VITREORETINOPATHY 6 (OMIM:616468)
Gene: ZNF408
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF408
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF408
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: ZNF408
Phenotype: Peripapillary atrophy (HP:0500087)
Associated disease: RETINITIS PIGMENTOSA 72 (OMIM:616469)
Gene: ZNF408
Phenotype: Middle age onset (HP:0003596)
Associated disease: RETINITIS PIGMENTOSA 72 (OMIM:616469)
Gene: ZNF408
Phenotype: Middle age onset (HP:0003596)
Associated disease: EXUDATIVE VITREORETINOPATHY 6 (OMIM:616468)
Gene: ZNF408
Phenotype: Infantile onset (HP:0003593)
Associated disease: EXUDATIVE VITREORETINOPATHY 6 (OMIM:616468)
Gene: ZNF408
Phenotype: Esodeviation (HP:0020045)
Associated disease: EXUDATIVE VITREORETINOPATHY 6 (OMIM:616468)
Gene: ZNF408
Phenotype: Lymphedema (HP:0001004)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: ZNF408
Phenotype: Neonatal onset (HP:0003623)
Associated disease: EXUDATIVE VITREORETINOPATHY 6 (OMIM:616468)
Gene: ZNF408
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF408
Phenotype: Juvenile onset (HP:0003621)
Associated disease: EXUDATIVE VITREORETINOPATHY 6 (OMIM:616468)
Gene: ZNF408
Phenotype: Macular telangiectasia (HP:0030503)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: ZNF408
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF408
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF408
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF408
Phenotype: Blindness (HP:0000618)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: ZNF408
Phenotype: Photophobia (HP:0000613)
Associated disease: RETINITIS PIGMENTOSA 72 (OMIM:616469)
Gene: ZNF408
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF408
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF408
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF408
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF408
Phenotype: Exudative vitreoretinopathy (HP:0030490)
Associated disease: EXUDATIVE VITREORETINOPATHY 6 (OMIM:616468)
Gene: ZNF408
Phenotype: Macular exudate (HP:0030496)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: ZNF408
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: ZNF408
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF408
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 72 (OMIM:616469)
Gene: ZNF408
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF408
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: EXUDATIVE VITREORETINOPATHY 6 (OMIM:616468)
Gene: ZNF408
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF408
Phenotype: Retinal neovascularization (HP:0030666)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: ZNF408
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: ZNF408
Phenotype: Epiretinal membrane (HP:0100014)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: ZNF408
Phenotype: Nuclear cataract (HP:0100018)
Associated disease: EXUDATIVE VITREORETINOPATHY 6 (OMIM:616468)
Gene: ZNF408
Phenotype: Cortical cataract (HP:0100019)
Associated disease: EXUDATIVE VITREORETINOPATHY 6 (OMIM:616468)
Gene: ZNF408
Phenotype: Abnormal optic disc morphology (HP:0012795)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: ZNF408
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF408
Phenotype: Childhood onset (HP:0011463)
Associated disease: EXUDATIVE VITREORETINOPATHY 6 (OMIM:616468)
Gene: ZNF408
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 72 (OMIM:616469)
Gene: ZNF408
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF408
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF408
Phenotype: Retinal hole (HP:0011530)
Associated disease: EXUDATIVE VITREORETINOPATHY 6 (OMIM:616468)
Gene: ZNF408
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF408
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF408
Phenotype: Macular edema (HP:0040049)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: ZNF408
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF408
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF408
Phenotype: Patchy atrophy of the retinal pigment epithelium (HP:0007791)
Associated disease: EXUDATIVE VITREORETINOPATHY 6 (OMIM:616468)
Gene: ZNF408
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF408
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: RETINITIS PIGMENTOSA 72 (OMIM:616469)
Gene: ZNF408
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: ZNF408
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF408
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF408
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 72 (OMIM:616469)
Gene: ZNF408
Phenotype: Rhegmatogenous retinal detachment (HP:0012230)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: ZNF408
Phenotype: Microcephaly (HP:0000252)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: ZNF408
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF408
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 72 (OMIM:616469)
Gene: ZNF408
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF408
Phenotype: Subretinal fluid (HP:0031526)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: ZNF408
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: ZNF408
Phenotype: High myopia (HP:0011003)
Associated disease: RETINITIS PIGMENTOSA 72 (OMIM:616469)
Gene: ZNF408
Phenotype: Tractional retinal detachment (HP:0007917)
Associated disease: EXUDATIVE VITREORETINOPATHY 6 (OMIM:616468)
Gene: ZNF408
Phenotype: Tractional retinal detachment (HP:0007917)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: ZNF408
Phenotype: Vitreous hemorrhage (HP:0007902)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: ZNF408
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF408
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF408
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF408
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF408
Phenotype: Cataract (HP:0000518)
Associated disease: EXUDATIVE VITREORETINOPATHY 6 (OMIM:616468)
Gene: ZNF408
Phenotype: Cataract (HP:0000518)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: ZNF408
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 72 (OMIM:616469)