Human Phenotype Ontology 
Grandparent Node:
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Abnormal lens morphology (HP:0000517)help
Parent Node:
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Cataract (HP:0000518)help
..Starting node
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Developmental cataract (HP:0000519)help
Term ID: 519
Name: Developmental cataract
Synonym: Bilateral congenital cataracts; Cataract, congenital; Clouding of the lens of the eye at birth; Congenital cataract; Congenital cataracts; Congenital cataracts, bilateral
Definition: A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.
Comments:
Reference: HP:0000519
Genes and Diseases:
 
       Child Nodes:
........expandCongenital nuclear cataract (HP:0008024) help

 Sister Nodes: 
..expandAge-related cataract (HP:0011141) help
..expandCapsular cataract (HP:0100017) help
..expandChristmas tree cataract (HP:0025571) help
..expandJuvenile cataract (HP:0001118) help
..expandMembranous cataract (HP:0010922) help
..expandobsolete Total cataract (HP:0010700) help
..expandPolar cataract (HP:0010696) help
..expandPresenile cataracts (HP:0007819) help
..expandProgressive cataract (HP:0007834) help
..expandSubcapsular cataract (HP:0000523) help
..expandZonular cataract (HP:0010920) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000519HP:0000519Developmental cataract0ABCA2 CL E G H2032OMIM:618808INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0000519HP:0000519Developmental cataract0ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0000519HP:0000519Developmental cataract0AGK CL E G H5575021869OMIM:614691Cataract, autosomal recessive congenital 5.82
HP:0000519HP:0000519Developmental cataract0AGK CL E G H5575021869OMIM:212350Sengers syndrome.82
HP:0000519HP:0000519Developmental cataract0ALDH18A1 CL E G H58329722ORPHA:90348Autosomal dominant cutis laxa89
HP:0000519HP:0000519Developmental cataract0ALDH18A1 CL E G H58329722ORPHA:447753Autosomal dominant spastic paraplegia type 9AHP:0040283 - Occasional89
HP:0000519HP:0000519Developmental cataract0ALDH18A1 CL E G H58329722ORPHA:447757Autosomal dominant spastic paraplegia type 9BHP:0040283 - Occasional89
HP:0000519HP:0000519Developmental cataract0ALDH18A1 CL E G H58329722OMIM:616603Cutis laxa, autosomal dominant 3.89
HP:0000519HP:0000519Developmental cataract0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040282 - Frequent2
HP:0000519HP:0000519Developmental cataract0ARPC4 CL E G H10093707OMIM:620141
HP:0000519HP:0000519Developmental cataract0ATAD3A CL E G H5521025567OMIM:617183Harel-Yoon syndrome5
HP:0000519HP:0000519Developmental cataract0ATAD3A CL E G H5521025567OMIM:618810PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL5
HP:0000519HP:0000519Developmental cataract0ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0000519HP:0000519Developmental cataract0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0000519HP:0000519Developmental cataract0BEST1 CL E G H743912703OMIM:193220VITREORETINOCHOROIDOPATHY182
HP:0000519HP:0000519Developmental cataract0BFSP2 CL E G H84191041OMIM:611597Cataract, autosomal dominant, multiple types 127
HP:0000519HP:0000519Developmental cataract0CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000519HP:0000519Developmental cataract0CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 7.11
HP:0000519HP:0000519Developmental cataract0COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1.177
HP:0000519HP:0000519Developmental cataract0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomaliesHP:0040284 - Very rare193
HP:0000519HP:0000519Developmental cataract0COL4A5 CL E G H12872207OMIM:301050Alport syndrome, X-linked.678
HP:0000519HP:0000519Developmental cataract0COX1 CL E G H45127419OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000519HP:0000519Developmental cataract0COX2 CL E G H45137421OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000519HP:0000519Developmental cataract0COX3 CL E G H45147422OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000519HP:0000519Developmental cataract0CRYAA CL E G H14092388OMIM:604219Cataract 9, multiple types.33
HP:0000519HP:0000519Developmental cataract0CRYAB CL E G H14102389OMIM:613763Cataract, posterior polar, 2HP:0040283 - Occasional46
HP:0000519HP:0000519Developmental cataract0CRYBA1 CL E G H14112394OMIM:600881Cataract, congenital zonular, with sutural opacities.9
HP:0000519HP:0000519Developmental cataract0CRYBA2 CL E G H14122395OMIM:115900Cataract 42.
HP:0000519HP:0000519Developmental cataract0CRYBB1 CL E G H14142397OMIM:611544Cataract 17, multiple types.18
HP:0000519HP:0000519Developmental cataract0CRYBB2 CL E G H14152398OMIM:601547Cataract 3, multiple types.13
HP:0000519HP:0000519Developmental cataract0CRYBB3 CL E G H14172400OMIM:609741Cataract 22, multiple types.22
HP:0000519HP:0000519Developmental cataract0CRYGB CL E G H14192409OMIM:615188Cataract, multiple types.2
HP:0000519HP:0000519Developmental cataract0CRYGC CL E G H14202410OMIM:604307Cataract 2, multiple types.11
HP:0000519HP:0000519Developmental cataract0CRYGD CL E G H14212411OMIM:115700Cataract, crystalline aculeiform.29
HP:0000519HP:0000519Developmental cataract0CTDP1 CL E G H91502498OMIM:604168Congenital cataracts, facial dysmorphism, and neuropathy.17
HP:0000519HP:0000519Developmental cataract0CYTB CL E G H45197427OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000519HP:0000519Developmental cataract0DOCK6 CL E G H5757219189OMIM:614219Adams-Oliver syndrome 2HP:0040283 - Occasional18
HP:0000519HP:0000519Developmental cataract0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040282 - Frequent38
HP:0000519HP:0000519Developmental cataract0EHMT1 CL E G H7981324650ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040284 - Very rare223
HP:0000519HP:0000519Developmental cataract0ELN CL E G H20063327ORPHA:90348Autosomal dominant cutis laxa172
HP:0000519HP:0000519Developmental cataract0ENTPD1 CL E G H9533363OMIM:615683Spastic paraplegia 64, autosomal recessiveHP:0040283 - Occasional3
HP:0000519HP:0000519Developmental cataract0EPG5 CL E G H5772429331OMIM:242840Vici syndrome.40
HP:0000519HP:0000519Developmental cataract0EPHA2 CL E G H19693386OMIM:116600Cataract, posterior polar, 1 ctpa cataract, congenital total, included87
HP:0000519HP:0000519Developmental cataract0ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional20
HP:0000519HP:0000519Developmental cataract0ERCC2 CL E G H20683434OMIM:610756Cerebrooculofacioskeletal syndrome 2.106
HP:0000519HP:0000519Developmental cataract0ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0000519HP:0000519Developmental cataract0ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0000519HP:0000519Developmental cataract0ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional199
HP:0000519HP:0000519Developmental cataract0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B199
HP:0000519HP:0000519Developmental cataract0ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional55
HP:0000519HP:0000519Developmental cataract0ETFA CL E G H21083481OMIM:231680Multiple acyl-coa dehydrogenase deficiency.37
HP:0000519HP:0000519Developmental cataract0ETFB CL E G H21093482OMIM:231680Multiple acyl-coa dehydrogenase deficiency.27
HP:0000519HP:0000519Developmental cataract0ETFDH CL E G H21103483OMIM:231680Multiple acyl-coa dehydrogenase deficiency.77
HP:0000519HP:0000519Developmental cataract0FAM111A CL E G H6390124725ORPHA:93325Autosomal dominant Kenny-Caffey syndromeHP:0040283 - Occasional8
HP:0000519HP:0000519Developmental cataract0FAM111A CL E G H6390124725OMIM:127000Kenny-caffey syndrome, type 2.8
HP:0000519HP:0000519Developmental cataract0FAR1 CL E G H8418826222ORPHA:447753Autosomal dominant spastic paraplegia type 9AHP:0040283 - Occasional7
HP:0000519HP:0000519Developmental cataract0FBLN5 CL E G H105163602ORPHA:90348Autosomal dominant cutis laxa63
HP:0000519HP:0000519Developmental cataract0FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0000519HP:0000519Developmental cataract0GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare29
HP:0000519HP:0000519Developmental cataract0GCNT2 CL E G H26514204OMIM:116700Cataract 13 with adult i phenotype66
HP:0000519HP:0000519Developmental cataract0GFER CL E G H26714236ORPHA:330054Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndromeHP:0040282 - Frequent14
HP:0000519HP:0000519Developmental cataract0GFER CL E G H26714236OMIM:613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay.14
HP:0000519HP:0000519Developmental cataract0GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0000519HP:0000519Developmental cataract0GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000519HP:0000519Developmental cataract0GTF2H5 CL E G H40467221157OMIM:616395Trichothiodystrophy 3, photosensitive3
HP:0000519HP:0000519Developmental cataract0HMX1 CL E G H31665017OMIM:612109Oculoauricular syndrome2
HP:0000519HP:0000519Developmental cataract0HSPG2 CL E G H33395273ORPHA:1865Dyssegmental dysplasia, Silverman-Handmaker typeHP:0040283 - Occasional345
HP:0000519HP:0000519Developmental cataract0HYCC1 CL E G H8466824587ORPHA:85163Hypomyelination-congenital cataract syndromeHP:0040281 - Very frequent
HP:0000519HP:0000519Developmental cataract0HYCC1 CL E G H8466824587OMIM:610532Leukodystrophy, hypomyelinating, 5.
HP:0000519HP:0000519Developmental cataract0IARS2 CL E G H5569929685ORPHA:436174Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndromeHP:0040281 - Very frequent25
HP:0000519HP:0000519Developmental cataract0IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0000519HP:0000519Developmental cataract0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0000519HP:0000519Developmental cataract0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0000519HP:0000519Developmental cataract0KCNA4 CL E G H37396222OMIM:618284Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum.
HP:0000519HP:0000519Developmental cataract0KCTD1 CL E G H28425218249OMIM:181270Scalp-Ear-Nipple syndromeHP:0040283 - Occasional11
HP:0000519HP:0000519Developmental cataract0KIF1B CL E G H2309516636OMIM:171300PHEOCHROMOCYTOMA.202
HP:0000519HP:0000519Developmental cataract0KMT2C CL E G H5850813726ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040284 - Very rare99
HP:0000519HP:0000519Developmental cataract0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040283 - Occasional645
HP:0000519HP:0000519Developmental cataract0LONP1 CL E G H93619479OMIM:600373CODAS syndrome.8
HP:0000519HP:0000519Developmental cataract0LSS CL E G H40476708OMIM:616509Cataract 44.2
HP:0000519HP:0000519Developmental cataract0MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndromeHP:0040282 - Frequent21
HP:0000519HP:0000519Developmental cataract0MAF CL E G H40946776OMIM:601088Ayme-Gripp syndrome21
HP:0000519HP:0000519Developmental cataract0MAFA CL E G H38969223145OMIM:147630Insulinomatosis and diabetes mellitusHP:0040284 - Very rare
HP:0000519HP:0000519Developmental cataract0MAX CL E G H41496913OMIM:171300PHEOCHROMOCYTOMA.84
HP:0000519HP:0000519Developmental cataract0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040282 - Frequent43
HP:0000519HP:0000519Developmental cataract0MIP CL E G H42847103OMIM:615274Cataract 15, multiple types.40
HP:0000519HP:0000519Developmental cataract0MIR184 CL E G H40696031555OMIM:614303Edict syndrome.1
HP:0000519HP:0000519Developmental cataract0MIR204 CL E G H40698731582OMIM:616722Retinal dystrophy and iris coloboma with or without congenital cataractHP:0040283 - Occasional1
HP:0000519HP:0000519Developmental cataract0MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0000519HP:0000519Developmental cataract0MSMO1 CL E G H630710545OMIM:616834Microcephaly, congenital cataract, and psoriasiform dermatitis3
HP:0000519HP:0000519Developmental cataract0ND1 CL E G H45357455OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000519HP:0000519Developmental cataract0ND5 CL E G H45407461OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000519HP:0000519Developmental cataract0ND6 CL E G H45417462OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000519HP:0000519Developmental cataract0NDP CL E G H46937678ORPHA:91495Persistent hyperplastic primary vitreous39
HP:0000519HP:0000519Developmental cataract0NEU1 CL E G H47587758ORPHA:93400Congenital sialidosis type 2HP:0040283 - Occasional43
HP:0000519HP:0000519Developmental cataract0NHS CL E G H48107820OMIM:302350Nance-Horan syndrome.88
HP:0000519HP:0000519Developmental cataract0NUP188 CL E G H2351117859OMIM:618804SANDESTIG-STEFANOVA SYNDROME; SANDSTEF4
HP:0000519HP:0000519Developmental cataract0OCRL CL E G H49528108OMIM:309000Lowe syndrome.88
HP:0000519HP:0000519Developmental cataract0PAX6 CL E G H50808620OMIM:604229Anterior segment dysgenesis 5, multiple subtypes.194
HP:0000519HP:0000519Developmental cataract0PEX11B CL E G H87998853OMIM:614920Peroxisome biogenesis disorder 14B4
HP:0000519HP:0000519Developmental cataract0PEX5 CL E G H58309719OMIM:616716RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP599
HP:0000519HP:0000519Developmental cataract0PEX7 CL E G H51918860OMIM:215100Rhizomelic chondrodysplasia punctata, type 1.72
HP:0000519HP:0000519Developmental cataract0PHGDH CL E G H262278923ORPHA:793513-phosphoglycerate dehydrogenase deficiency, infantile/juvenile formHP:0040283 - Occasional37
HP:0000519HP:0000519Developmental cataract0PHGDH CL E G H262278923OMIM:601815Phosphoglycerate dehydrogenase deficiency.37
HP:0000519HP:0000519Developmental cataract0PIGY CL E G H8499228213OMIM:616809Hyperphosphatasia with mental retardation syndrome 62
HP:0000519HP:0000519Developmental cataract0PIK3C2A CL E G H52868971ORPHA:557003Oculocerebrodental syndromeHP:0040282 - Frequent
HP:0000519HP:0000519Developmental cataract0PIK3C2A CL E G H52868971OMIM:618440Oculoskeletodental syndrome
HP:0000519HP:0000519Developmental cataract0PITX3 CL E G H53099006OMIM:610623Cataract 11, multiple types6
HP:0000519HP:0000519Developmental cataract0PNPT1 CL E G H8717823166ORPHA:319514Combined oxidative phosphorylation defect type 13HP:0040283 - Occasional60
HP:0000519HP:0000519Developmental cataract0POMT1 CL E G H105859202OMIM:613155MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1HP:0040283 - Occasional213
HP:0000519HP:0000519Developmental cataract0PSMC3 CL E G H57029549OMIM:619354DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0000519HP:0000519Developmental cataract0RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 3.85
HP:0000519HP:0000519Developmental cataract0RAB3GAP1 CL E G H2293017063OMIM:619420MARTSOLF SYNDROME 2; MARTS290
HP:0000519HP:0000519Developmental cataract0RAB3GAP1 CL E G H2293017063OMIM:600118Warburg micro syndrome 1.90
HP:0000519HP:0000519Developmental cataract0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1135
HP:0000519HP:0000519Developmental cataract0RAB3GAP2 CL E G H2578217168OMIM:614225Warburg micro syndrome 2.135
HP:0000519HP:0000519Developmental cataract0RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2HP:0040283 - Occasional445
HP:0000519HP:0000519Developmental cataract0RET CL E G H59799967OMIM:171300PHEOCHROMOCYTOMA.572
HP:0000519HP:0000519Developmental cataract0RIC1 CL E G H5758917686OMIM:618761CATIFA SYNDROME; CATIFA
HP:0000519HP:0000519Developmental cataract0RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000519HP:0000519Developmental cataract0RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0000519HP:0000519Developmental cataract0RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0000519HP:0000519Developmental cataract0RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0000519HP:0000519Developmental cataract0RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0000519HP:0000519Developmental cataract0RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0000519HP:0000519Developmental cataract0RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0000519HP:0000519Developmental cataract0RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0000519HP:0000519Developmental cataract0RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare11
HP:0000519HP:0000519Developmental cataract0RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare40
HP:0000519HP:0000519Developmental cataract0RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare26
HP:0000519HP:0000519Developmental cataract0RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0000519HP:0000519Developmental cataract0RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare5
HP:0000519HP:0000519Developmental cataract0RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare42
HP:0000519HP:0000519Developmental cataract0RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0000519HP:0000519Developmental cataract0RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0000519HP:0000519Developmental cataract0RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare20
HP:0000519HP:0000519Developmental cataract0RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0000519HP:0000519Developmental cataract0RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0000519HP:0000519Developmental cataract0RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0000519HP:0000519Developmental cataract0RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare20
HP:0000519HP:0000519Developmental cataract0SDHB CL E G H639010681OMIM:171300PHEOCHROMOCYTOMA.237
HP:0000519HP:0000519Developmental cataract0SDHD CL E G H639210683OMIM:171300PHEOCHROMOCYTOMA.129
HP:0000519HP:0000519Developmental cataract0SEC31A CL E G H2287217052OMIM:618651HALPERIN-BIRK SYNDROME; HLBKS
HP:0000519HP:0000519Developmental cataract0SIL1 CL E G H6437424624OMIM:248800Marinesco-Sjogren syndrome.67
HP:0000519HP:0000519Developmental cataract0SIPA1L3 CL E G H2309423801OMIM:616851CATARACT 45; CTRCT453
HP:0000519HP:0000519Developmental cataract0SLC33A1 CL E G H919795OMIM:614482Congenital cataracts, hearing loss, and neurodegeneration.48
HP:0000519HP:0000519Developmental cataract0TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000519HP:0000519Developmental cataract0TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0000519HP:0000519Developmental cataract0TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorderHP:0040283 - Occasional12
HP:0000519HP:0000519Developmental cataract0TKT CL E G H708611834OMIM:617044Short stature, developmental delay, and congenital heart defects4
HP:0000519HP:0000519Developmental cataract0TMEM127 CL E G H5565426038OMIM:171300PHEOCHROMOCYTOMA.131
HP:0000519HP:0000519Developmental cataract0TRNC CL E G H45117477OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000519HP:0000519Developmental cataract0TRNF CL E G H45587481OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000519HP:0000519Developmental cataract0TRNK CL E G H45667489OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000519HP:0000519Developmental cataract0TRNL1 CL E G H45677490OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000519HP:0000519Developmental cataract0TRNQ CL E G H45727495OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000519HP:0000519Developmental cataract0TRNS1 CL E G H45747497OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000519HP:0000519Developmental cataract0TRNS2 CL E G H45757498OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000519HP:0000519Developmental cataract0TRNV CL E G H45777500OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000519HP:0000519Developmental cataract0TRNW CL E G H45787501OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000519HP:0000519Developmental cataract0TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0000519HP:0000519Developmental cataract0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040283 - Occasional7
HP:0000519HP:0000519Developmental cataract0VHL CL E G H742812687OMIM:171300PHEOCHROMOCYTOMA.490
HP:0000519HP:0000519Developmental cataract0VPS4A CL E G H2718313488OMIM:619273CIMDAG SYNDROME; CIMDAG1


Genes (147) :ABCA2 ADA2 AGK ALDH18A1 ANAPC1 ARPC4 ATAD3A ATOH7 BCOR BEST1 BFSP2 CARS1 CAV1 COL18A1 COL4A1 COL4A5 COX1 COX2 COX3 CRYAA CRYAB CRYBA1 CRYBA2 CRYBB1 CRYBB2 CRYBB3 CRYGB CRYGC CRYGD CTDP1 CYTB DOCK6 DPAGT1 EHMT1 ELN ENTPD1 EPG5 EPHA2 ERCC1 ERCC2 ERCC3 ERCC6 ERCC8 ETFA ETFB ETFDH FAM111A FAR1 FBLN5 FZD4 GATA1 GCNT2 GFER GTF2E2 GTF2H5 HMX1 HSPG2 HYCC1 IARS2 IDH1 KANSL1 KCNA4 KCTD1 KIF1B KMT2C LMNA LONP1 LSS MAF MAFA MAX MED25 MIP MIR184 MIR204 MPLKIP MSMO1 ND1 ND5 ND6 NDP NEU1 NHS NUP188 OCRL PAX6 PEX11B PEX5 PEX7 PHGDH PIGY PIK3C2A PITX3 PNPT1 POMT1 PSMC3 RAB18 RAB3GAP1 RAB3GAP2 RECQL4 RET RIC1 RNF113A RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SDHB SDHD SEC31A SIL1 SIPA1L3 SLC33A1 TARS1 TBC1D20 TELO2 TKT TMEM127 TRNC TRNF TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNV TRNW TSR2 UBE2A VHL VPS4A

Diseases (104) :OMIM:618808 ORPHA:124 OMIM:614691 OMIM:212350 ORPHA:90348 ORPHA:447753 ORPHA:447757 OMIM:616603 ORPHA:221008 OMIM:620141 OMIM:617183 OMIM:618810 ORPHA:91495 OMIM:300166 OMIM:193220 OMIM:611597 ORPHA:33364 OMIM:606721 OMIM:267750 OMIM:175780 OMIM:301050 OMIM:540000 OMIM:604219 OMIM:613763 OMIM:600881 OMIM:115900 OMIM:611544 OMIM:601547 OMIM:609741 OMIM:615188 OMIM:604307 OMIM:115700 OMIM:604168 OMIM:614219 ORPHA:86309 ORPHA:261652 OMIM:615683 OMIM:242840 OMIM:116600 ORPHA:90322 OMIM:610756 OMIM:133540 OMIM:231680 ORPHA:93325 OMIM:127000 OMIM:116700 ORPHA:330054 OMIM:613076 OMIM:616395 OMIM:612109 ORPHA:1865 ORPHA:85163 OMIM:610532 ORPHA:436174 ORPHA:99646 ORPHA:363958 ORPHA:363965 OMIM:618284 OMIM:181270 OMIM:171300 ORPHA:79474 OMIM:600373 OMIM:616509 ORPHA:1272 OMIM:601088 OMIM:147630 ORPHA:464738 OMIM:615274 OMIM:614303 OMIM:616722 OMIM:616834 ORPHA:93400 OMIM:302350 OMIM:618804 OMIM:309000 OMIM:604229 OMIM:614920 OMIM:616716 OMIM:215100 ORPHA:79351 OMIM:601815 OMIM:616809 ORPHA:557003 OMIM:618440 OMIM:610623 ORPHA:319514 OMIM:613155 OMIM:619354 OMIM:614222 OMIM:619420 OMIM:600118 OMIM:212720 OMIM:614225 ORPHA:221016 OMIM:618761 OMIM:618651 OMIM:248800 OMIM:616851 OMIM:614482 OMIM:615663 ORPHA:488642 OMIM:617044 ORPHA:163956 OMIM:619273
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.