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:0000519 | HP:0000519 | Developmental cataract | 0 | ABCA2 CL E G H | 20 | 32 | OMIM:618808 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA | | | | | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 22 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | AGK CL E G H | 55750 | 21869 | OMIM:614691 | Cataract, autosomal recessive congenital 5 | . | | | 82 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | AGK CL E G H | 55750 | 21869 | OMIM:212350 | Sengers syndrome | . | | | 82 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 89 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447753 | Autosomal dominant spastic paraplegia type 9A | HP:0040283 - Occasional | | | 89 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447757 | Autosomal dominant spastic paraplegia type 9B | HP:0040283 - Occasional | | | 89 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:616603 | Cutis laxa, autosomal dominant 3 | . | | | 89 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | ANAPC1 CL E G H | 64682 | 19988 | ORPHA:221008 | Rothmund-Thomson syndrome type 1 | HP:0040282 - Frequent | | | 2 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | ARPC4 CL E G H | 10093 | 707 | OMIM:620141 | | | | | | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | ATAD3A CL E G H | 55210 | 25567 | OMIM:617183 | Harel-Yoon syndrome | | | | 5 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | ATAD3A CL E G H | 55210 | 25567 | OMIM:618810 | PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL | | | | 5 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | ATOH7 CL E G H | 220202 | 13907 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 4 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | | | | 101 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | BEST1 CL E G H | 7439 | 12703 | OMIM:193220 | VITREORETINOCHOROIDOPATHY | | | | 182 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | BFSP2 CL E G H | 8419 | 1041 | OMIM:611597 | Cataract, autosomal dominant, multiple types 1 | | | | 27 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | CAV1 CL E G H | 857 | 1527 | OMIM:606721 | Lipodystrophy, familial partial, type 7 | . | | | 11 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | . | | | 177 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | HP:0040284 - Very rare | | | 193 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | COL4A5 CL E G H | 1287 | 2207 | OMIM:301050 | Alport syndrome, X-linked | . | | | 678 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | COX1 CL E G H | 4512 | 7419 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | COX2 CL E G H | 4513 | 7421 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | COX3 CL E G H | 4514 | 7422 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | CRYAA CL E G H | 1409 | 2388 | OMIM:604219 | Cataract 9, multiple types | . | | | 33 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | CRYAB CL E G H | 1410 | 2389 | OMIM:613763 | Cataract, posterior polar, 2 | HP:0040283 - Occasional | | | 46 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | CRYBA1 CL E G H | 1411 | 2394 | OMIM:600881 | Cataract, congenital zonular, with sutural opacities | . | | | 9 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | CRYBA2 CL E G H | 1412 | 2395 | OMIM:115900 | Cataract 42 | . | | | | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | CRYBB1 CL E G H | 1414 | 2397 | OMIM:611544 | Cataract 17, multiple types | . | | | 18 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | CRYBB2 CL E G H | 1415 | 2398 | OMIM:601547 | Cataract 3, multiple types | . | | | 13 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | CRYBB3 CL E G H | 1417 | 2400 | OMIM:609741 | Cataract 22, multiple types | . | | | 22 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | CRYGB CL E G H | 1419 | 2409 | OMIM:615188 | Cataract, multiple types | . | | | 2 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | CRYGC CL E G H | 1420 | 2410 | OMIM:604307 | Cataract 2, multiple types | . | | | 11 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | CRYGD CL E G H | 1421 | 2411 | OMIM:115700 | Cataract, crystalline aculeiform | . | | | 29 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | CTDP1 CL E G H | 9150 | 2498 | OMIM:604168 | Congenital cataracts, facial dysmorphism, and neuropathy | . | | | 17 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | CYTB CL E G H | 4519 | 7427 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | DOCK6 CL E G H | 57572 | 19189 | OMIM:614219 | Adams-Oliver syndrome 2 | HP:0040283 - Occasional | | | 18 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | HP:0040282 - Frequent | | | 38 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | HP:0040284 - Very rare | | | 223 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 172 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | ENTPD1 CL E G H | 953 | 3363 | OMIM:615683 | Spastic paraplegia 64, autosomal recessive | HP:0040283 - Occasional | | | 3 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | . | | | 40 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | EPHA2 CL E G H | 1969 | 3386 | OMIM:116600 | Cataract, posterior polar, 1 ctpa cataract, congenital total, included | | | | 87 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 20 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | ERCC2 CL E G H | 2068 | 3434 | OMIM:610756 | Cerebrooculofacioskeletal syndrome 2 | . | | | 106 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 199 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | | | | 199 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 55 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | ETFA CL E G H | 2108 | 3481 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 37 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | ETFB CL E G H | 2109 | 3482 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 27 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | ETFDH CL E G H | 2110 | 3483 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 77 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | FAM111A CL E G H | 63901 | 24725 | ORPHA:93325 | Autosomal dominant Kenny-Caffey syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | FAM111A CL E G H | 63901 | 24725 | OMIM:127000 | Kenny-caffey syndrome, type 2 | . | | | 8 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | FAR1 CL E G H | 84188 | 26222 | ORPHA:447753 | Autosomal dominant spastic paraplegia type 9A | HP:0040283 - Occasional | | | 7 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | FBLN5 CL E G H | 10516 | 3602 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 63 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | FZD4 CL E G H | 8322 | 4042 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 109 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 29 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | GCNT2 CL E G H | 2651 | 4204 | OMIM:116700 | Cataract 13 with adult i phenotype | | | | 66 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | GFER CL E G H | 2671 | 4236 | ORPHA:330054 | Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | GFER CL E G H | 2671 | 4236 | OMIM:613076 | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay | . | | | 14 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | GTF2H5 CL E G H | 404672 | 21157 | OMIM:616395 | Trichothiodystrophy 3, photosensitive | | | | 3 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | HMX1 CL E G H | 3166 | 5017 | OMIM:612109 | Oculoauricular syndrome | | | | 2 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1865 | Dyssegmental dysplasia, Silverman-Handmaker type | HP:0040283 - Occasional | | | 345 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | HYCC1 CL E G H | 84668 | 24587 | ORPHA:85163 | Hypomyelination-congenital cataract syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | HYCC1 CL E G H | 84668 | 24587 | OMIM:610532 | Leukodystrophy, hypomyelinating, 5 | . | | | | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | IARS2 CL E G H | 55699 | 29685 | ORPHA:436174 | Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | HP:0040281 - Very frequent | | | 25 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040283 - Occasional | | | 283 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040283 - Occasional | | | 283 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | KCNA4 CL E G H | 3739 | 6222 | OMIM:618284 | Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum | . | | | | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | KCTD1 CL E G H | 284252 | 18249 | OMIM:181270 | Scalp-Ear-Nipple syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | KIF1B CL E G H | 23095 | 16636 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 202 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | KMT2C CL E G H | 58508 | 13726 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | HP:0040284 - Very rare | | | 99 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040283 - Occasional | | | 645 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | LONP1 CL E G H | 9361 | 9479 | OMIM:600373 | CODAS syndrome | . | | | 8 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | LSS CL E G H | 4047 | 6708 | OMIM:616509 | Cataract 44 | . | | | 2 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | MAF CL E G H | 4094 | 6776 | ORPHA:1272 | Aymé-Gripp syndrome | HP:0040282 - Frequent | | | 21 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | MAF CL E G H | 4094 | 6776 | OMIM:601088 | Ayme-Gripp syndrome | | | | 21 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | MAFA CL E G H | 389692 | 23145 | OMIM:147630 | Insulinomatosis and diabetes mellitus | HP:0040284 - Very rare | | | | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | MAX CL E G H | 4149 | 6913 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 84 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | HP:0040282 - Frequent | | | 43 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | MIP CL E G H | 4284 | 7103 | OMIM:615274 | Cataract 15, multiple types | . | | | 40 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | MIR184 CL E G H | 406960 | 31555 | OMIM:614303 | Edict syndrome | . | | | 1 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | MIR204 CL E G H | 406987 | 31582 | OMIM:616722 | Retinal dystrophy and iris coloboma with or without congenital cataract | HP:0040283 - Occasional | | | 1 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | MSMO1 CL E G H | 6307 | 10545 | OMIM:616834 | Microcephaly, congenital cataract, and psoriasiform dermatitis | | | | 3 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | ND1 CL E G H | 4535 | 7455 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | ND5 CL E G H | 4540 | 7461 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | ND6 CL E G H | 4541 | 7462 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 39 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93400 | Congenital sialidosis type 2 | HP:0040283 - Occasional | | | 43 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | NHS CL E G H | 4810 | 7820 | OMIM:302350 | Nance-Horan syndrome | . | | | 88 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | NUP188 CL E G H | 23511 | 17859 | OMIM:618804 | SANDESTIG-STEFANOVA SYNDROME; SANDSTEF | | | | 4 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | OCRL CL E G H | 4952 | 8108 | OMIM:309000 | Lowe syndrome | . | | | 88 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:604229 | Anterior segment dysgenesis 5, multiple subtypes | . | | | 194 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | PEX11B CL E G H | 8799 | 8853 | OMIM:614920 | Peroxisome biogenesis disorder 14B | | | | 4 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | PEX5 CL E G H | 5830 | 9719 | OMIM:616716 | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5 | | | | 99 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | PEX7 CL E G H | 5191 | 8860 | OMIM:215100 | Rhizomelic chondrodysplasia punctata, type 1 | . | | | 72 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | PHGDH CL E G H | 26227 | 8923 | ORPHA:79351 | 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form | HP:0040283 - Occasional | | | 37 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | PHGDH CL E G H | 26227 | 8923 | OMIM:601815 | Phosphoglycerate dehydrogenase deficiency | . | | | 37 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | PIGY CL E G H | 84992 | 28213 | OMIM:616809 | Hyperphosphatasia with mental retardation syndrome 6 | | | | 2 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | PIK3C2A CL E G H | 5286 | 8971 | ORPHA:557003 | Oculocerebrodental syndrome | HP:0040282 - Frequent | | | | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | PIK3C2A CL E G H | 5286 | 8971 | OMIM:618440 | Oculoskeletodental syndrome | | | | | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | PITX3 CL E G H | 5309 | 9006 | OMIM:610623 | Cataract 11, multiple types | | | | 6 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | PNPT1 CL E G H | 87178 | 23166 | ORPHA:319514 | Combined oxidative phosphorylation defect type 13 | HP:0040283 - Occasional | | | 60 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:613155 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 | HP:0040283 - Occasional | | | 213 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | PSMC3 CL E G H | 5702 | 9549 | OMIM:619354 | DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP | | | | | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | RAB18 CL E G H | 22931 | 14244 | OMIM:614222 | Warburg micro syndrome 3 | . | | | 85 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | OMIM:619420 | MARTSOLF SYNDROME 2; MARTS2 | | | | 90 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | OMIM:600118 | Warburg micro syndrome 1 | . | | | 90 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | | | | 135 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:614225 | Warburg micro syndrome 2 | . | | | 135 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:221016 | Rothmund-Thomson syndrome type 2 | HP:0040283 - Occasional | | | 445 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | RET CL E G H | 5979 | 9967 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 572 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | RIC1 CL E G H | 57589 | 17686 | OMIM:618761 | CATIFA SYNDROME; CATIFA | | | | | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 22 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 11 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 40 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 26 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 5 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 42 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 22 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 20 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 20 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | SDHB CL E G H | 6390 | 10681 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 237 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | SDHD CL E G H | 6392 | 10683 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 129 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | SEC31A CL E G H | 22872 | 17052 | OMIM:618651 | HALPERIN-BIRK SYNDROME; HLBKS | | | | | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | SIL1 CL E G H | 64374 | 24624 | OMIM:248800 | Marinesco-Sjogren syndrome | . | | | 67 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | SIPA1L3 CL E G H | 23094 | 23801 | OMIM:616851 | CATARACT 45; CTRCT45 | | | | 3 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | SLC33A1 CL E G H | 9197 | 95 | OMIM:614482 | Congenital cataracts, hearing loss, and neurodegeneration | . | | | 48 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | TBC1D20 CL E G H | 128637 | 16133 | OMIM:615663 | Warburg micro syndrome 4 | | | | 15 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | TELO2 CL E G H | 9894 | 29099 | ORPHA:488642 | TELO2-related intellectual disability-neurodevelopmental disorder | HP:0040283 - Occasional | | | 12 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | TKT CL E G H | 7086 | 11834 | OMIM:617044 | Short stature, developmental delay, and congenital heart defects | | | | 4 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | TMEM127 CL E G H | 55654 | 26038 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 131 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | TRNC CL E G H | 4511 | 7477 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | TRNF CL E G H | 4558 | 7481 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | TRNK CL E G H | 4566 | 7489 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | TRNL1 CL E G H | 4567 | 7490 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | TRNQ CL E G H | 4572 | 7495 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | TRNS1 CL E G H | 4574 | 7497 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | TRNS2 CL E G H | 4575 | 7498 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | TRNV CL E G H | 4577 | 7500 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | TRNW CL E G H | 4578 | 7501 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | HP:0040283 - Occasional | | | 7 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | VHL CL E G H | 7428 | 12687 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 490 | | |
HP:0000519 | HP:0000519 | Developmental cataract | 0 | VPS4A CL E G H | 27183 | 13488 | OMIM:619273 | CIMDAG SYNDROME; CIMDAG | | | | 1 | | |