Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 22 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | ADAMTSL1 CL E G H | 92949 | 14632 | ORPHA:521445 | Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome | | | | | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 116 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | | | | 54 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | ATOH7 CL E G H | 220202 | 13907 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 4 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | ATOH7 CL E G H | 220202 | 13907 | OMIM:221900 | Persistent hyperplastic primary vitreous, autosomal recessive | | | | 4 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | . | | | 5 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | . | | | 85 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | . | | | 165 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | CYP1B1 CL E G H | 1545 | 2597 | OMIM:617315 | ANTERIOR SEGMENT DYSGENESIS 6; ASGD6 | | | | 101 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | CYP1B1 CL E G H | 1545 | 2597 | OMIM:231300 | Glaucoma 3, primary congenital, A | | | | 101 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | CYP1B1 CL E G H | 1545 | 2597 | OMIM:600975 | Glaucoma 3, primary infantile, B | | | | 101 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | CYP1B1 CL E G H | 1545 | 2597 | ORPHA:708 | Peters anomaly | HP:0040282 - Frequent | | | 101 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | DAG1 CL E G H | 1605 | 2666 | ORPHA:370997 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy | | | | 108 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | DAG1 CL E G H | 1605 | 2666 | OMIM:616538 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 | | | | 108 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 157 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 184 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:90652 | Otopalatodigital syndrome type 2 | HP:0040283 - Occasional | | | 493 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | FOXC1 CL E G H | 2296 | 3800 | ORPHA:708 | Peters anomaly | HP:0040282 - Frequent | | | 63 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | FOXE3 CL E G H | 2301 | 3808 | ORPHA:708 | Peters anomaly | HP:0040282 - Frequent | | | 23 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | FUT8 CL E G H | 2530 | 4019 | OMIM:618005 | Congenital disorder of glycosylation with defective fucosylation 1 | | | | 3 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | FZD4 CL E G H | 8322 | 4042 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 109 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 29 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | GLIS3 CL E G H | 169792 | 28510 | OMIM:610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | . | | | 143 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | GNAQ CL E G H | 2776 | 4390 | OMIM:185300 | Sturge-Weber syndrome | | | | 7 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 28 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 136 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | | | | 165 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | LTBP2 CL E G H | 4053 | 6715 | OMIM:613086 | Glaucoma 3, primary congenital, D | | | | 123 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | LTBP2 CL E G H | 4053 | 6715 | OMIM:600975 | Glaucoma 3, primary infantile, B | | | | 123 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | MAB21L1 CL E G H | 4081 | 6757 | OMIM:618479 | Cerebellar, ocular, craniofacial, and genital syndrome | | | | | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | MAFA CL E G H | 389692 | 23145 | OMIM:147630 | Insulinomatosis and diabetes mellitus | HP:0040284 - Very rare | | | | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | NCAPG2 CL E G H | 54892 | 21904 | OMIM:618460 | Khan-Khan-Katsanis syndrome | | | | 2 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | NDP CL E G H | 4693 | 7678 | OMIM:310600 | Norrie disease | | | | 39 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 39 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | | | | 88 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | PAX6 CL E G H | 5080 | 8620 | ORPHA:708 | Peters anomaly | HP:0040282 - Frequent | | | 194 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | PITX2 CL E G H | 5308 | 9005 | ORPHA:708 | Peters anomaly | HP:0040282 - Frequent | | | 51 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:253280 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | | | | 180 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 213 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 221 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613150 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | | | | 221 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | | | | 948 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | PXDN CL E G H | 7837 | 14966 | OMIM:269400 | Corneal opacification with other ocular anomalies | | | | 22 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | PYCR1 CL E G H | 5831 | 9721 | OMIM:614438 | Cutis laxa, autosomal recessive, type IIIB | . | | | 53 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 22 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 11 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 40 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 26 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 5 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 42 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | | | | 42 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 22 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 20 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 20 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | SBF2 CL E G H | 81846 | 2135 | ORPHA:99956 | Charcot-Marie-Tooth disease type 4B2 | | | | 180 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | | | | 134 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | HP:0040283 - Occasional | | | 23 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | TEK CL E G H | 7010 | 11724 | OMIM:600975 | Glaucoma 3, primary infantile, B | | | | 78 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 56 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0001087 | HP:0001087 | Developmental glaucoma | 0 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0001087 | HP:0000557 | Buphthalmos | 1 | ADAMTSL1 CL E G H | 92949 | 14632 | ORPHA:521445 | Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome | HP:0040282 - Frequent | | | | | |
HP:0001087 | HP:0008007 | Primary congenital glaucoma | 1 | ADAMTSL1 CL E G H | 92949 | 14632 | ORPHA:521445 | Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome | HP:0040282 - Frequent | | | | | |
HP:0001087 | HP:0000557 | Buphthalmos | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0001087 | HP:0000557 | Buphthalmos | 1 | ATOH7 CL E G H | 220202 | 13907 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 4 | | |
HP:0001087 | HP:0000557 | Buphthalmos | 1 | ATOH7 CL E G H | 220202 | 13907 | OMIM:221900 | Persistent hyperplastic primary vitreous, autosomal recessive | . | | | 4 | | |
HP:0001087 | HP:0000557 | Buphthalmos | 1 | CYP1B1 CL E G H | 1545 | 2597 | OMIM:231300 | Glaucoma 3, primary congenital, A | . | | | 101 | | |
HP:0001087 | HP:0008041 | Late onset congenital glaucoma | 1 | CYP1B1 CL E G H | 1545 | 2597 | OMIM:231300 | Glaucoma 3, primary congenital, A | . | | | 101 | | |
HP:0001087 | HP:0008007 | Primary congenital glaucoma | 1 | CYP1B1 CL E G H | 1545 | 2597 | OMIM:600975 | Glaucoma 3, primary infantile, B | . | | | 101 | | |
HP:0001087 | HP:0000557 | Buphthalmos | 1 | DAG1 CL E G H | 1605 | 2666 | ORPHA:370997 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy | HP:0040283 - Occasional | | | 108 | | |
HP:0001087 | HP:0000557 | Buphthalmos | 1 | DAG1 CL E G H | 1605 | 2666 | OMIM:616538 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 | . | | | 108 | | |
HP:0001087 | HP:0000557 | Buphthalmos | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | . | | | 175 | | |
HP:0001087 | HP:0000557 | Buphthalmos | 1 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 157 | | |
HP:0001087 | HP:0000557 | Buphthalmos | 1 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 184 | | |
HP:0001087 | HP:0000557 | Buphthalmos | 1 | FUT8 CL E G H | 2530 | 4019 | OMIM:618005 | Congenital disorder of glycosylation with defective fucosylation 1 | . | | | 3 | | |
HP:0001087 | HP:0000557 | Buphthalmos | 1 | FZD4 CL E G H | 8322 | 4042 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 109 | | |
HP:0001087 | HP:0000557 | Buphthalmos | 1 | GLIS3 CL E G H | 169792 | 28510 | OMIM:610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | HP:0040283 - Occasional | | | 143 | | |
HP:0001087 | HP:0000557 | Buphthalmos | 1 | GNAQ CL E G H | 2776 | 4390 | OMIM:185300 | Sturge-Weber syndrome | . | | | 7 | | |
HP:0001087 | HP:0000557 | Buphthalmos | 1 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 136 | | |
HP:0001087 | HP:0008007 | Primary congenital glaucoma | 1 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | HP:0040283 - Occasional | | | 165 | | |
HP:0001087 | HP:0008007 | Primary congenital glaucoma | 1 | LTBP2 CL E G H | 4053 | 6715 | OMIM:613086 | Glaucoma 3, primary congenital, D | . | | | 123 | | |
HP:0001087 | HP:0008007 | Primary congenital glaucoma | 1 | LTBP2 CL E G H | 4053 | 6715 | OMIM:600975 | Glaucoma 3, primary infantile, B | . | | | 123 | | |
HP:0001087 | HP:0000557 | Buphthalmos | 1 | MAB21L1 CL E G H | 4081 | 6757 | OMIM:618479 | Cerebellar, ocular, craniofacial, and genital syndrome | . | | | | | |
HP:0001087 | HP:0000557 | Buphthalmos | 1 | NCAPG2 CL E G H | 54892 | 21904 | OMIM:618460 | Khan-Khan-Katsanis syndrome | . | | | 2 | | |
HP:0001087 | HP:0000557 | Buphthalmos | 1 | NDP CL E G H | 4693 | 7678 | OMIM:310600 | Norrie disease | | | | 39 | | |
HP:0001087 | HP:0000557 | Buphthalmos | 1 | NDP CL E G H | 4693 | 7678 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 39 | | |
HP:0001087 | HP:0000557 | Buphthalmos | 1 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040282 - Frequent | | | 88 | | |
HP:0001087 | HP:0000557 | Buphthalmos | 1 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:253280 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | . | | | 180 | | |
HP:0001087 | HP:0000557 | Buphthalmos | 1 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 213 | | |
HP:0001087 | HP:0000557 | Buphthalmos | 1 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 221 | | |
HP:0001087 | HP:0000557 | Buphthalmos | 1 | POMT2 CL E G H | 29954 | 19743 | OMIM:613150 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | | | | 221 | | |
HP:0001087 | HP:0000557 | Buphthalmos | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0001087 | HP:0000557 | Buphthalmos | 1 | PXDN CL E G H | 7837 | 14966 | OMIM:269400 | Corneal opacification with other ocular anomalies | HP:0040283 - Occasional | | | 22 | | |
HP:0001087 | HP:0008007 | Primary congenital glaucoma | 1 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | | | | 42 | | |
HP:0001087 | HP:0000557 | Buphthalmos | 1 | SBF2 CL E G H | 81846 | 2135 | ORPHA:99956 | Charcot-Marie-Tooth disease type 4B2 | | | | 180 | | |
HP:0001087 | HP:0000557 | Buphthalmos | 1 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | | | | 134 | | |
HP:0001087 | HP:0008007 | Primary congenital glaucoma | 1 | TEK CL E G H | 7010 | 11724 | OMIM:600975 | Glaucoma 3, primary infantile, B | . | | | 78 | | |
HP:0001087 | HP:0000557 | Buphthalmos | 1 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | . | | | 18 | | |