Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye morphology (HP:0012372)help
Parent Node:
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obsolete Abnormal globe morphology (HP:0012374)help
..Starting node
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Abnormal sclera morphology (HP:0000591)help
Term ID: 591
Name: Abnormal sclera morphology
Synonym: Abnormality of the outer white part of eyeball; Abnormality of the sclera
Definition: An abnormality of the sclera.
Comments:
Reference: HP:0000591
Genes and Diseases:
 
       Child Nodes:
........expandBlue sclerae (HP:0000592) help
........expandEpibulbar dermoid (HP:0001140) help
........expandPigmentation of the sclera (HP:0007832) help
........expandSuperficial episcleral hyperemia (HP:0025339) help
........expandDeep episcleral hyperemia (HP:0025340) help
........expandScleral rupture (HP:0025513) help
........expandOcular melanocytosis (HP:0025534) help
........expandScleral thickening (HP:0030823) help
........expandScleral staphyloma (HP:0030854) help
................... HP:0030855 Anterior staphyloma
................... HP:0030856 Posterior staphyloma
........expandScleral schwannoma (HP:0100011) help
........expandScleritis (HP:0100532) help
........expandEpiscleritis (HP:0100534) help

 Sister Nodes: 
..expandAbnormal anterior eye segment morphology (HP:0004328) help
..expandAbnormal posterior eye segment morphology (HP:0004329) help
..expandAbnormal uvea morphology (HP:0000553) help
..expandAbnormality of globe location (HP:0100886) help
..expandAbnormality of globe size (HP:0100887) help
..expandAbnormality of the vasculature of the eye (HP:0008047) help
..expandAplasia/Hypoplasia affecting the eye (HP:0008056) help
..expandPhthisis bulbi (HP:0000667) help
..expandSpontaneous rupture of the globe (HP:0010727) 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:0000591HP:0000591Abnormal sclera morphology0ABCC6 CL E G H36857ORPHA:758Pseudoxanthoma elasticum415
HP:0000591HP:0000591Abnormal sclera morphology0ABCC6 CL E G H36857OMIM:177850Pseudoxanthoma elasticum, forme fruste415
HP:0000591HP:0000591Abnormal sclera morphology0ADAMTS2 CL E G H9509218OMIM:225410Ehlers-Danlos syndrome, type VII, autosomal recessive165
HP:0000591HP:0000591Abnormal sclera morphology0AKT1 CL E G H207391OMIM:176920Proteus syndrome, somatic54
HP:0000591HP:0000591Abnormal sclera morphology0ALPL CL E G H249438OMIM:241500Hypophosphatasia, infantile126
HP:0000591HP:0000591Abnormal sclera morphology0ARL2 CL E G H402693OMIM:619082MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1; MRCS1
HP:0000591HP:0000591Abnormal sclera morphology0ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome140
HP:0000591HP:0000591Abnormal sclera morphology0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome38
HP:0000591HP:0000591Abnormal sclera morphology0B3GALT6 CL E G H12679217978OMIM:615349Ehlers-Danlos syndrome, spondylodysplastic type, 238
HP:0000591HP:0000591Abnormal sclera morphology0B3GALT6 CL E G H12679217978ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxity38
HP:0000591HP:0000591Abnormal sclera morphology0B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures38
HP:0000591HP:0000591Abnormal sclera morphology0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects5
HP:0000591HP:0000591Abnormal sclera morphology0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 129
HP:0000591HP:0000591Abnormal sclera morphology0BCL11A CL E G H5333513221OMIM:617101Intellectual developmental disorder with persistence of fetal hemoglobin11
HP:0000591HP:0000591Abnormal sclera morphology0BEST1 CL E G H743912703OMIM:193220VITREORETINOCHOROIDOPATHY182
HP:0000591HP:0000591Abnormal sclera morphology0BMP1 CL E G H6491067OMIM:614856Osteogenesis imperfecta, type XIII49
HP:0000591HP:0000591Abnormal sclera morphology0C1R CL E G H7151246OMIM:130080Ehlers-Danlos syndrome, periodontal type, 115
HP:0000591HP:0000591Abnormal sclera morphology0CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosis29
HP:0000591HP:0000591Abnormal sclera morphology0CANT1 CL E G H12458319721ORPHA:1425Desbuquois syndrome85
HP:0000591HP:0000591Abnormal sclera morphology0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 127
HP:0000591HP:0000591Abnormal sclera morphology0CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndrome27
HP:0000591HP:0000591Abnormal sclera morphology0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects165
HP:0000591HP:0000591Abnormal sclera morphology0CHSY1 CL E G H2285617198OMIM:605282Temtamy preaxial brachydactyly syndrome16
HP:0000591HP:0000591Abnormal sclera morphology0CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0000591HP:0000591Abnormal sclera morphology0CLCNKB CL E G H11882027OMIM:607364Bartter syndrome, type 3.27
HP:0000591HP:0000591Abnormal sclera morphology0COG4 CL E G H2583918620OMIM:618150Saul-Wilson syndrome67
HP:0000591HP:0000591Abnormal sclera morphology0COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndrome65
HP:0000591HP:0000591Abnormal sclera morphology0COL1A1 CL E G H12772197OMIM:619115COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1373
HP:0000591HP:0000591Abnormal sclera morphology0COL1A1 CL E G H12772197OMIM:166200Osteogenesis imperfecta, type I373
HP:0000591HP:0000591Abnormal sclera morphology0COL1A1 CL E G H12772197OMIM:166210Osteogenesis imperfecta, type IIA373
HP:0000591HP:0000591Abnormal sclera morphology0COL1A1 CL E G H12772197OMIM:259420Osteogenesis imperfecta, type III373
HP:0000591HP:0000591Abnormal sclera morphology0COL1A1 CL E G H12772197OMIM:166220Osteogenesis imperfecta, type IV373
HP:0000591HP:0000591Abnormal sclera morphology0COL1A2 CL E G H12782198OMIM:619120COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2243
HP:0000591HP:0000591Abnormal sclera morphology0COL1A2 CL E G H12782198OMIM:166210Osteogenesis imperfecta, type IIA243
HP:0000591HP:0000591Abnormal sclera morphology0COL1A2 CL E G H12782198OMIM:259420Osteogenesis imperfecta, type III243
HP:0000591HP:0000591Abnormal sclera morphology0COL1A2 CL E G H12782198OMIM:166220Osteogenesis imperfecta, type IV243
HP:0000591HP:0000591Abnormal sclera morphology0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndrome749
HP:0000591HP:0000591Abnormal sclera morphology0COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I660
HP:0000591HP:0000591Abnormal sclera morphology0COL5A1 CL E G H12892209OMIM:619329FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF660
HP:0000591HP:0000591Abnormal sclera morphology0CREB3L1 CL E G H9099318856OMIM:616229Osteogenesis imperfecta, type XVI4
HP:0000591HP:0000591Abnormal sclera morphology0CRTAP CL E G H104912379OMIM:610682Osteogenesis imperfecta, type VII124
HP:0000591HP:0000591Abnormal sclera morphology0CSGALNACT1 CL E G H5579024290ORPHA:1425Desbuquois syndrome
HP:0000591HP:0000591Abnormal sclera morphology0CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0000591HP:0000591Abnormal sclera morphology0CYB5A CL E G H15282570ORPHA:621Hereditary methemoglobinemia2
HP:0000591HP:0000591Abnormal sclera morphology0CYB5R3 CL E G H17272873ORPHA:621Hereditary methemoglobinemia24
HP:0000591HP:0000591Abnormal sclera morphology0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndrome2
HP:0000591HP:0000591Abnormal sclera morphology0DNASE1L3 CL E G H17762959ORPHA:36412Hypocomplementemic urticarial vasculitis3
HP:0000591HP:0000591Abnormal sclera morphology0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDG38
HP:0000591HP:0000591Abnormal sclera morphology0DSE CL E G H2994021144OMIM:615539Ehlers-Danlos syndrome, musculocontractural type, 213
HP:0000591HP:0000591Abnormal sclera morphology0DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndrome13
HP:0000591HP:0000591Abnormal sclera morphology0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndrome14
HP:0000591HP:0000591Abnormal sclera morphology0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndrome5
HP:0000591HP:0000591Abnormal sclera morphology0DVL3 CL E G H18573087OMIM:616894ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS35
HP:0000591HP:0000591Abnormal sclera morphology0ENPP1 CL E G H51673356ORPHA:758Pseudoxanthoma elasticum151
HP:0000591HP:0000591Abnormal sclera morphology0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome92
HP:0000591HP:0000591Abnormal sclera morphology0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndrome92
HP:0000591HP:0000591Abnormal sclera morphology0EXOC6B CL E G H2323317085ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxity3
HP:0000591HP:0000591Abnormal sclera morphology0EXOSC1 CL E G H5101317286OMIM:619304PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0000591HP:0000591Abnormal sclera morphology0FBN1 CL E G H22003603ORPHA:284979Neonatal Marfan syndrome1361
HP:0000591HP:0000591Abnormal sclera morphology0FGFR1 CL E G H22603688OMIM:613001Encephalocraniocutaneous lipomatosis172
HP:0000591HP:0000591Abnormal sclera morphology0FKBP10 CL E G H6068118169OMIM:610968Osteogenesis imperfecta, type XI61
HP:0000591HP:0000591Abnormal sclera morphology0FKBP14 CL E G H5503318625OMIM:614557Ehlers-Danlos syndrome, kyphoscoliotic type, 213
HP:0000591HP:0000591Abnormal sclera morphology0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndrome
HP:0000591HP:0000591Abnormal sclera morphology0GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyria29
HP:0000591HP:0000591Abnormal sclera morphology0GDF11 CL E G H102204216OMIM:619122VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0000591HP:0000591Abnormal sclera morphology0GHR CL E G H26904263OMIM:262500Laron syndrome98
HP:0000591HP:0000591Abnormal sclera morphology0GHR CL E G H26904263ORPHA:633Laron syndrome98
HP:0000591HP:0000591Abnormal sclera morphology0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000591HP:0000591Abnormal sclera morphology0H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome
HP:0000591HP:0000591Abnormal sclera morphology0HADHA CL E G H30304801ORPHA:5Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency99
HP:0000591HP:0000591Abnormal sclera morphology0HGD CL E G H30814892ORPHA:56Alkaptonuria77
HP:0000591HP:0000591Abnormal sclera morphology0HGD CL E G H30814892OMIM:203500Alkaptonuria77
HP:0000591HP:0000591Abnormal sclera morphology0IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated form86
HP:0000591HP:0000591Abnormal sclera morphology0IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe form86
HP:0000591HP:0000591Abnormal sclera morphology0IFITM5 CL E G H38773316644OMIM:610967Osteogenesis imperfecta, type V.8
HP:0000591HP:0000591Abnormal sclera morphology0IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome9
HP:0000591HP:0000591Abnormal sclera morphology0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmenti52
HP:0000591HP:0000591Abnormal sclera morphology0IMPG2 CL E G H5093918362OMIM:613581RETINITIS PIGMENTOSA 56; RP56120
HP:0000591HP:0000591Abnormal sclera morphology0INPPL1 CL E G H36366080ORPHA:2746Opsismodysplasia18
HP:0000591HP:0000591Abnormal sclera morphology0IPO8 CL E G H105269853ORPHA:60030Loeys-Dietz syndrome
HP:0000591HP:0000591Abnormal sclera morphology0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0000591HP:0000591Abnormal sclera morphology0KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0000591HP:0000591Abnormal sclera morphology0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome3
HP:0000591HP:0000591Abnormal sclera morphology0KDM6A CL E G H740312637ORPHA:2322Kabuki syndrome53
HP:0000591HP:0000591Abnormal sclera morphology0KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 153
HP:0000591HP:0000591Abnormal sclera morphology0KDM6A CL E G H740312637OMIM:300867Kabuki syndrome 253
HP:0000591HP:0000591Abnormal sclera morphology0KIFBP CL E G H2612823419OMIM:609460Goldberg-Shprintzen syndrome
HP:0000591HP:0000591Abnormal sclera morphology0KMT2D CL E G H80857133ORPHA:2322Kabuki syndrome660
HP:0000591HP:0000591Abnormal sclera morphology0KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1660
HP:0000591HP:0000591Abnormal sclera morphology0KRAS CL E G H38456407OMIM:600268Oculoectodermal syndrome196
HP:0000591HP:0000591Abnormal sclera morphology0KRAS CL E G H38456407ORPHA:3339Toriello-Lacassie-Droste syndrome196
HP:0000591HP:0000591Abnormal sclera morphology0LRP5 CL E G H40416697ORPHA:2788Osteoporosis-pseudoglioma syndrome125
HP:0000591HP:0000591Abnormal sclera morphology0MAP3K7 CL E G H68856859OMIM:157800Cardiospondylocarpofacial syndrome11
HP:0000591HP:0000591Abnormal sclera morphology0MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 211
HP:0000591HP:0000591Abnormal sclera morphology0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndrome22
HP:0000591HP:0000591Abnormal sclera morphology0MBTPS2 CL E G H5136015455OMIM:301014Osteogenesis imperfecta, type XIX22
HP:0000591HP:0000591Abnormal sclera morphology0MC1R CL E G H41576929ORPHA:79432Oculocutaneous albinism type 2124
HP:0000591HP:0000591Abnormal sclera morphology0MED27 CL E G H94422377OMIM:619286NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0000591HP:0000591Abnormal sclera morphology0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0000591HP:0000591Abnormal sclera morphology0MESD CL E G H2318413520OMIM:618644OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000591HP:0000591Abnormal sclera morphology0MFRP CL E G H8355218121OMIM:611040Microphthalmia, isolated 5.26
HP:0000591HP:0000591Abnormal sclera morphology0MSX2 CL E G H44887392OMIM:168500Parietal foramina45
HP:0000591HP:0000591Abnormal sclera morphology0MVK CL E G H45987530OMIM:610377Mevalonic aciduria150
HP:0000591HP:0000591Abnormal sclera morphology0MVK CL E G H45987530ORPHA:29Mevalonic aciduria150
HP:0000591HP:0000591Abnormal sclera morphology0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0000591HP:0000591Abnormal sclera morphology0NFIX CL E G H47847788ORPHA:561Marshall-Smith syndrome40
HP:0000591HP:0000591Abnormal sclera morphology0NLRP3 CL E G H11454816400ORPHA:575Muckle-Wells syndrome217
HP:0000591HP:0000591Abnormal sclera morphology0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndrome2
HP:0000591HP:0000591Abnormal sclera morphology0OCA2 CL E G H49488101ORPHA:79432Oculocutaneous albinism type 2121
HP:0000591HP:0000591Abnormal sclera morphology0P4HB CL E G H50348548ORPHA:2050Cole-Carpenter syndrome2
HP:0000591HP:0000591Abnormal sclera morphology0PAX1 CL E G H50758615OMIM:615560Otofaciocervical syndrome 23
HP:0000591HP:0000591Abnormal sclera morphology0PAX2 CL E G H50768616OMIM:120330Papillorenal syndrome39
HP:0000591HP:0000591Abnormal sclera morphology0PGM1 CL E G H52368905OMIM:614921Congenital disorder of glycosylation, type It58
HP:0000591HP:0000591Abnormal sclera morphology0PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome12
HP:0000591HP:0000591Abnormal sclera morphology0PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1105
HP:0000591HP:0000591Abnormal sclera morphology0PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency105
HP:0000591HP:0000591Abnormal sclera morphology0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndrome138
HP:0000591HP:0000591Abnormal sclera morphology0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0000591HP:0000591Abnormal sclera morphology0POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0000591HP:0000591Abnormal sclera morphology0PPIB CL E G H54799255OMIM:259440Osteogenesis imperfecta, type IX39
HP:0000591HP:0000591Abnormal sclera morphology0PPP1R15B CL E G H8491914951OMIM:616817Microcephaly, short stature, and impaired glucose metabolism 22
HP:0000591HP:0000591Abnormal sclera morphology0PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome2
HP:0000591HP:0000591Abnormal sclera morphology0PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000591HP:0000591Abnormal sclera morphology0PRDM5 CL E G H111079349ORPHA:90354Brittle cornea syndrome58
HP:0000591HP:0000591Abnormal sclera morphology0PRDM5 CL E G H111079349OMIM:614170Brittle cornea syndrome 258
HP:0000591HP:0000591Abnormal sclera morphology0PRKAR1A CL E G H55739388OMIM:160980Carney complex, type 1134
HP:0000591HP:0000591Abnormal sclera morphology0PRKG2 CL E G H55939416OMIM:619638SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0000591HP:0000591Abnormal sclera morphology0PRMT7 CL E G H5449625557ORPHA:464288Short stature-brachydactyly-obesity-global developmental delay syndrome6
HP:0000591HP:0000591Abnormal sclera morphology0PRSS56 CL E G H64696039433OMIM:613517Microphthalmia, isolated 611
HP:0000591HP:0000591Abnormal sclera morphology0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0000591HP:0000591Abnormal sclera morphology0PTEN CL E G H57289588ORPHA:2969Proteus-like syndrome948
HP:0000591HP:0000591Abnormal sclera morphology0PUS3 CL E G H8348025461OMIM:617051MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT551
HP:0000591HP:0000591Abnormal sclera morphology0PUS3 CL E G H8348025461ORPHA:488627Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome1
HP:0000591HP:0000591Abnormal sclera morphology0PYCR1 CL E G H58319721OMIM:612940Cutis laxa, autosomal recessive, type IIB53
HP:0000591HP:0000591Abnormal sclera morphology0PYCR1 CL E G H58319721OMIM:614438Cutis laxa, autosomal recessive, type IIIB53
HP:0000591HP:0000591Abnormal sclera morphology0RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasia37
HP:0000591HP:0000591Abnormal sclera morphology0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndrome120
HP:0000591HP:0000591Abnormal sclera morphology0RPS23 CL E G H622810410OMIM:617412BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD2
HP:0000591HP:0000591Abnormal sclera morphology0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndrome124
HP:0000591HP:0000591Abnormal sclera morphology0SEC24D CL E G H987110706ORPHA:2050Cole-Carpenter syndrome5
HP:0000591HP:0000591Abnormal sclera morphology0SEC24D CL E G H987110706OMIM:616294Cole-Carpenter syndrome 25
HP:0000591HP:0000591Abnormal sclera morphology0SERPINH1 CL E G H8711546OMIM:613848Osteogenesis imperfecta, type X52
HP:0000591HP:0000591Abnormal sclera morphology0SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia2
HP:0000591HP:0000591Abnormal sclera morphology0SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasia166
HP:0000591HP:0000591Abnormal sclera morphology0SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0000591HP:0000591Abnormal sclera morphology0SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 324
HP:0000591HP:0000591Abnormal sclera morphology0SLC39A13 CL E G H9125220859ORPHA:157965SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome24
HP:0000591HP:0000591Abnormal sclera morphology0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome12
HP:0000591HP:0000591Abnormal sclera morphology0TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorder12
HP:0000591HP:0000591Abnormal sclera morphology0TENT5A CL E G H5560318345OMIM:617952Osteogenesis imperfecta, type XVIII
HP:0000591HP:0000591Abnormal sclera morphology0TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0000591HP:0000591Abnormal sclera morphology0TGFBR1 CL E G H704611772ORPHA:60030Loeys-Dietz syndrome239
HP:0000591HP:0000591Abnormal sclera morphology0TGFBR1 CL E G H704611772OMIM:609192Loeys-Dietz syndrome 1239
HP:0000591HP:0000591Abnormal sclera morphology0TGFBR2 CL E G H704811773ORPHA:60030Loeys-Dietz syndrome253
HP:0000591HP:0000591Abnormal sclera morphology0TGFBR2 CL E G H704811773OMIM:610168Loeys-Dietz syndrome 2253
HP:0000591HP:0000591Abnormal sclera morphology0TMEM38B CL E G H5515125535OMIM:615066OSTEOGENESIS IMPERFECTA, TYPE XIV; OI144
HP:0000591HP:0000591Abnormal sclera morphology0TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome7
HP:0000591HP:0000591Abnormal sclera morphology0TRMT5 CL E G H5757023141OMIM:616539Combined oxidative phosphorylation deficiency 264
HP:0000591HP:0000591Abnormal sclera morphology0UNC45A CL E G H5589830594OMIM:619377OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0000591HP:0000591Abnormal sclera morphology0UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyria31
HP:0000591HP:0000591Abnormal sclera morphology0UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyria41
HP:0000591HP:0000591Abnormal sclera morphology0VPS4A CL E G H2718313488OMIM:619273CIMDAG SYNDROME; CIMDAG1
HP:0000591HP:0000591Abnormal sclera morphology0WASF1 CL E G H893612732OMIM:618707NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0000591HP:0000591Abnormal sclera morphology0WNT1 CL E G H747112774OMIM:615220Osteogenesis imperfecta, type XV12
HP:0000591HP:0000591Abnormal sclera morphology0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndrome98
HP:0000591HP:0000591Abnormal sclera morphology0XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214
HP:0000591HP:0000591Abnormal sclera morphology0XYLT1 CL E G H6413115516ORPHA:1425Desbuquois syndrome14
HP:0000591HP:0000591Abnormal sclera morphology0ZNF469 CL E G H8462723216ORPHA:90354Brittle cornea syndrome397
HP:0000591HP:0000591Abnormal sclera morphology0ZNF469 CL E G H8462723216OMIM:229200Brittle cornea syndrome397
HP:0000591HP:0100011Scleral schwannoma1 CL E G H
HP:0000591HP:0025340Deep episcleral hyperemia1 CL E G H
HP:0000591HP:0025339Superficial episcleral hyperemia1 CL E G H
HP:0000591HP:0000592Blue sclerae1ABCC6 CL E G H36857ORPHA:758Pseudoxanthoma elasticumHP:0040283 - Occasional415
HP:0000591HP:0000592Blue sclerae1ABCC6 CL E G H36857OMIM:177850Pseudoxanthoma elasticum, forme fruste.415
HP:0000591HP:0000592Blue sclerae1ADAMTS2 CL E G H9509218OMIM:225410Ehlers-Danlos syndrome, type VII, autosomal recessive.165
HP:0000591HP:0001140Limbal dermoid1AKT1 CL E G H207391OMIM:176920Proteus syndrome, somatic.54
HP:0000591HP:0000592Blue sclerae1ALPL CL E G H249438OMIM:241500Hypophosphatasia, infantile.126
HP:0000591HP:0030854Scleral staphyloma1ARL2 CL E G H402693OMIM:619082MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1; MRCS1
HP:0000591HP:0000592Blue sclerae1ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome140
HP:0000591HP:0000592Blue sclerae1B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent38
HP:0000591HP:0000592Blue sclerae1B3GALT6 CL E G H12679217978OMIM:615349Ehlers-Danlos syndrome, spondylodysplastic type, 2.38
HP:0000591HP:0000592Blue sclerae1B3GALT6 CL E G H12679217978ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxityHP:0040282 - Frequent38
HP:0000591HP:0000592Blue sclerae1B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures38
HP:0000591HP:0000592Blue sclerae1B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects5
HP:0000591HP:0000592Blue sclerae1B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 129
HP:0000591HP:0000592Blue sclerae1BCL11A CL E G H5333513221OMIM:617101Intellectual developmental disorder with persistence of fetal hemoglobin.11
HP:0000591HP:0030854Scleral staphyloma1BEST1 CL E G H743912703OMIM:193220VITREORETINOCHOROIDOPATHY182
HP:0000591HP:0000592Blue sclerae1BMP1 CL E G H6491067OMIM:614856Osteogenesis imperfecta, type XIIIHP:0040283 - Occasional49
HP:0000591HP:0000592Blue sclerae1C1R CL E G H7151246OMIM:130080Ehlers-Danlos syndrome, periodontal type, 1.15
HP:0000591HP:0000592Blue sclerae1CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosis29
HP:0000591HP:0000592Blue sclerae1CANT1 CL E G H12458319721ORPHA:1425Desbuquois syndromeHP:0040282 - Frequent85
HP:0000591HP:0000592Blue sclerae1CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1.27
HP:0000591HP:0000592Blue sclerae1CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent27
HP:0000591HP:0000592Blue sclerae1CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects165
HP:0000591HP:0000592Blue sclerae1CHSY1 CL E G H2285617198OMIM:605282Temtamy preaxial brachydactyly syndromeHP:0040283 - Occasional16
HP:0000591HP:0000592Blue sclerae1CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndromeHP:0040283 - Occasional16
HP:0000591HP:0000592Blue sclerae1COG4 CL E G H2583918620OMIM:618150Saul-Wilson syndrome.67
HP:0000591HP:0000592Blue sclerae1COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndromeHP:0040283 - Occasional65
HP:0000591HP:0000592Blue sclerae1COL1A1 CL E G H12772197OMIM:619115COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1373
HP:0000591HP:0000592Blue sclerae1COL1A1 CL E G H12772197OMIM:166200Osteogenesis imperfecta, type I.373
HP:0000591HP:0000592Blue sclerae1COL1A1 CL E G H12772197OMIM:166210Osteogenesis imperfecta, type IIA.373
HP:0000591HP:0000592Blue sclerae1COL1A1 CL E G H12772197OMIM:259420Osteogenesis imperfecta, type III.HP:0003577 - Congenital onset373
HP:0000591HP:0000592Blue sclerae1COL1A1 CL E G H12772197OMIM:166220Osteogenesis imperfecta, type IV373
HP:0000591HP:0000592Blue sclerae1COL1A2 CL E G H12782198OMIM:619120COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2243
HP:0000591HP:0000592Blue sclerae1COL1A2 CL E G H12782198OMIM:166210Osteogenesis imperfecta, type IIA.243
HP:0000591HP:0000592Blue sclerae1COL1A2 CL E G H12782198OMIM:259420Osteogenesis imperfecta, type III.HP:0003577 - Congenital onset243
HP:0000591HP:0000592Blue sclerae1COL1A2 CL E G H12782198OMIM:166220Osteogenesis imperfecta, type IV243
HP:0000591HP:0000592Blue sclerae1COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040283 - Occasional749
HP:0000591HP:0000592Blue sclerae1COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I.660
HP:0000591HP:0000592Blue sclerae1COL5A1 CL E G H12892209OMIM:619329FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF660
HP:0000591HP:0000592Blue sclerae1CREB3L1 CL E G H9099318856OMIM:616229Osteogenesis imperfecta, type XVI.4
HP:0000591HP:0000592Blue sclerae1CRTAP CL E G H104912379OMIM:610682Osteogenesis imperfecta, type VII.124
HP:0000591HP:0000592Blue sclerae1CSGALNACT1 CL E G H5579024290ORPHA:1425Desbuquois syndromeHP:0040282 - Frequent
HP:0000591HP:0000592Blue sclerae1CTSK CL E G H15132536ORPHA:763PycnodysostosisHP:0040282 - Frequent39
HP:0000591HP:0000592Blue sclerae1CYB5A CL E G H15282570ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional2
HP:0000591HP:0000592Blue sclerae1CYB5R3 CL E G H17272873ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional24
HP:0000591HP:0001140Limbal dermoid1DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional2
HP:0000591HP:0100534Episcleritis1DNASE1L3 CL E G H17762959ORPHA:36412Hypocomplementemic urticarial vasculitisHP:0040282 - Frequent3
HP:0000591HP:0025534Ocular melanocytosis1DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040283 - Occasional38
HP:0000591HP:0000592Blue sclerae1DSE CL E G H2994021144OMIM:615539Ehlers-Danlos syndrome, musculocontractural type, 2.13
HP:0000591HP:0000592Blue sclerae1DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent13
HP:0000591HP:0000592Blue sclerae1DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional14
HP:0000591HP:0000592Blue sclerae1DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional5
HP:0000591HP:0000592Blue sclerae1DVL3 CL E G H18573087OMIM:616894ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS35
HP:0000591HP:0000592Blue sclerae1ENPP1 CL E G H51673356ORPHA:758Pseudoxanthoma elasticumHP:0040283 - Occasional151
HP:0000591HP:0000592Blue sclerae1ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040283 - Occasional92
HP:0000591HP:0000592Blue sclerae1ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0000591HP:0000592Blue sclerae1EXOC6B CL E G H2323317085ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxityHP:0040282 - Frequent3
HP:0000591HP:0000592Blue sclerae1EXOSC1 CL E G H5101317286OMIM:619304PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0000591HP:0000592Blue sclerae1FBN1 CL E G H22003603ORPHA:284979Neonatal Marfan syndromeHP:0040282 - Frequent1361
HP:0000591HP:0001140Limbal dermoid1FGFR1 CL E G H22603688OMIM:613001Encephalocraniocutaneous lipomatosis.172
HP:0000591HP:0000592Blue sclerae1FKBP10 CL E G H6068118169OMIM:610968Osteogenesis imperfecta, type XI.61
HP:0000591HP:0000592Blue sclerae1FKBP14 CL E G H5503318625OMIM:614557Ehlers-Danlos syndrome, kyphoscoliotic type, 213
HP:0000591HP:0000592Blue sclerae1FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional
HP:0000591HP:0100532Scleritis1GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyriaHP:0040284 - Very rare29
HP:0000591HP:0000592Blue sclerae1GDF11 CL E G H102204216OMIM:619122VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0000591HP:0000592Blue sclerae1GHR CL E G H26904263ORPHA:633Laron syndromeHP:0040283 - Occasional98
HP:0000591HP:0000592Blue sclerae1GHR CL E G H26904263OMIM:262500Laron syndromeHP:0040283 - Occasional98
HP:0000591HP:0000592Blue sclerae1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000591HP:0000592Blue sclerae1H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome.
HP:0000591HP:0030854Scleral staphyloma1HADHA CL E G H30304801ORPHA:5Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency99
HP:0000591HP:0007832Pigmentation of the sclera1HGD CL E G H30814892OMIM:203500Alkaptonuria.77
HP:0000591HP:0000592Blue sclerae1HGD CL E G H30814892ORPHA:56AlkaptonuriaHP:0040281 - Very frequent77
HP:0000591HP:0030823Scleral thickening1IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated formHP:0040283 - Occasional86
HP:0000591HP:0030823Scleral thickening1IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe formHP:0040283 - Occasional86
HP:0000591HP:0000592Blue sclerae1IFITM5 CL E G H38773316644OMIM:610967Osteogenesis imperfecta, type V8
HP:0000591HP:0000592Blue sclerae1IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome.9
HP:0000591HP:0000592Blue sclerae1IKBKG CL E G H85175961ORPHA:464Incontinentia pigmentiHP:0040283 - Occasional52
HP:0000591HP:0030854Scleral staphyloma1IMPG2 CL E G H5093918362OMIM:613581RETINITIS PIGMENTOSA 56; RP56120
HP:0000591HP:0000592Blue sclerae1INPPL1 CL E G H36366080ORPHA:2746OpsismodysplasiaHP:0040283 - Occasional18
HP:0000591HP:0000592Blue sclerae1IPO8 CL E G H105269853ORPHA:60030Loeys-Dietz syndromeHP:0040282 - Frequent
HP:0000591HP:0000592Blue sclerae1IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0000591HP:0000592Blue sclerae1KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0000591HP:0000592Blue sclerae1KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeHP:0040283 - Occasional3
HP:0000591HP:0000592Blue sclerae1KDM6A CL E G H740312637ORPHA:2322Kabuki syndromeHP:0040283 - Occasional53
HP:0000591HP:0000592Blue sclerae1KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 1.53
HP:0000591HP:0000592Blue sclerae1KDM6A CL E G H740312637OMIM:300867Kabuki syndrome 253
HP:0000591HP:0000592Blue sclerae1KIFBP CL E G H2612823419OMIM:609460Goldberg-Shprintzen syndrome.
HP:0000591HP:0000592Blue sclerae1KMT2D CL E G H80857133ORPHA:2322Kabuki syndromeHP:0040283 - Occasional660
HP:0000591HP:0000592Blue sclerae1KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1.660
HP:0000591HP:0001140Limbal dermoid1KRAS CL E G H38456407OMIM:600268Oculoectodermal syndrome.196
HP:0000591HP:0001140Limbal dermoid1KRAS CL E G H38456407ORPHA:3339Toriello-Lacassie-Droste syndromeHP:0040281 - Very frequent196
HP:0000591HP:0000592Blue sclerae1LRP5 CL E G H40416697ORPHA:2788Osteoporosis-pseudoglioma syndromeHP:0040284 - Very rare125
HP:0000591HP:0000592Blue sclerae1MAP3K7 CL E G H68856859OMIM:157800Cardiospondylocarpofacial syndrome11
HP:0000591HP:0000592Blue sclerae1MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 2HP:0040283 - Occasional11
HP:0000591HP:0100534Episcleritis1MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040283 - Occasional22
HP:0000591HP:0100532Scleritis1MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040283 - Occasional22
HP:0000591HP:0000592Blue sclerae1MBTPS2 CL E G H5136015455OMIM:301014Osteogenesis imperfecta, type XIX.22
HP:0000591HP:0030854Scleral staphyloma1MC1R CL E G H41576929ORPHA:79432Oculocutaneous albinism type 2124
HP:0000591HP:0000592Blue sclerae1MED27 CL E G H94422377OMIM:619286NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0000591HP:0000592Blue sclerae1MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0000591HP:0000592Blue sclerae1MESD CL E G H2318413520OMIM:618644OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000591HP:0030823Scleral thickening1MFRP CL E G H8355218121OMIM:611040Microphthalmia, isolated 5.26
HP:0000591HP:0000592Blue sclerae1MSX2 CL E G H44887392OMIM:168500Parietal foramina45
HP:0000591HP:0000592Blue sclerae1MVK CL E G H45987530ORPHA:29Mevalonic aciduriaHP:0040282 - Frequent150
HP:0000591HP:0000592Blue sclerae1MVK CL E G H45987530OMIM:610377Mevalonic aciduria150
HP:0000591HP:0000592Blue sclerae1NFIX CL E G H47847788ORPHA:561Marshall-Smith syndromeHP:0040282 - Frequent40
HP:0000591HP:0000592Blue sclerae1NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome.40
HP:0000591HP:0100534Episcleritis1NLRP3 CL E G H11454816400ORPHA:575Muckle-Wells syndromeHP:0040281 - Very frequent217
HP:0000591HP:0000592Blue sclerae1NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional2
HP:0000591HP:0030854Scleral staphyloma1OCA2 CL E G H49488101ORPHA:79432Oculocutaneous albinism type 2121
HP:0000591HP:0000592Blue sclerae1P4HB CL E G H50348548ORPHA:2050Cole-Carpenter syndromeHP:0040281 - Very frequent2
HP:0000591HP:0000592Blue sclerae1PAX1 CL E G H50758615OMIM:615560Otofaciocervical syndrome 2HP:0040283 - Occasional3
HP:0000591HP:0030854Scleral staphyloma1PAX2 CL E G H50768616OMIM:120330Papillorenal syndrome39
HP:0000591HP:0000592Blue sclerae1PGM1 CL E G H52368905OMIM:614921Congenital disorder of glycosylation, type It58
HP:0000591HP:0030854Scleral staphyloma1PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome12
HP:0000591HP:0000592Blue sclerae1PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1105
HP:0000591HP:0025513Scleral rupture1PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyHP:0040283 - Occasional105
HP:0000591HP:0000592Blue sclerae1PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyHP:0040283 - Occasional105
HP:0000591HP:0000592Blue sclerae1POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome.138
HP:0000591HP:0000592Blue sclerae1POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040284 - Very rare138
HP:0000591HP:0000592Blue sclerae1POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0000591HP:0000592Blue sclerae1PPIB CL E G H54799255OMIM:259440Osteogenesis imperfecta, type IX.39
HP:0000591HP:0000592Blue sclerae1PPP1R15B CL E G H8491914951OMIM:616817Microcephaly, short stature, and impaired glucose metabolism 2HP:0040283 - Occasional2
HP:0000591HP:0000592Blue sclerae1PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional2
HP:0000591HP:0000592Blue sclerae1PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000591HP:0000592Blue sclerae1PRDM5 CL E G H111079349ORPHA:90354Brittle cornea syndromeHP:0040282 - Frequent58
HP:0000591HP:0000592Blue sclerae1PRDM5 CL E G H111079349OMIM:614170Brittle cornea syndrome 2.58
HP:0000591HP:0007832Pigmentation of the sclera1PRKAR1A CL E G H55739388OMIM:160980Carney complex, type 1134
HP:0000591HP:0000592Blue sclerae1PRKG2 CL E G H55939416OMIM:619638SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0000591HP:0000592Blue sclerae1PRMT7 CL E G H5449625557ORPHA:464288Short stature-brachydactyly-obesity-global developmental delay syndromeHP:0040283 - Occasional6
HP:0000591HP:0030823Scleral thickening1PRSS56 CL E G H64696039433OMIM:613517Microphthalmia, isolated 6.11
HP:0000591HP:0100534Episcleritis1PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0000591HP:0001140Limbal dermoid1PTEN CL E G H57289588ORPHA:2969Proteus-like syndromeHP:0040281 - Very frequent948
HP:0000591HP:0000592Blue sclerae1PUS3 CL E G H8348025461OMIM:617051MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT551
HP:0000591HP:0000592Blue sclerae1PUS3 CL E G H8348025461ORPHA:488627Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndromeHP:0040283 - Occasional1
HP:0000591HP:0000592Blue sclerae1PYCR1 CL E G H58319721OMIM:612940Cutis laxa, autosomal recessive, type IIB.53
HP:0000591HP:0000592Blue sclerae1PYCR1 CL E G H58319721OMIM:614438Cutis laxa, autosomal recessive, type IIIB.53
HP:0000591HP:0000592Blue sclerae1RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasiaHP:0040281 - Very frequent37
HP:0000591HP:0000592Blue sclerae1ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional120
HP:0000591HP:0000592Blue sclerae1RPS23 CL E G H622810410OMIM:617412BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD2
HP:0000591HP:0001140Limbal dermoid1SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional124
HP:0000591HP:0000592Blue sclerae1SEC24D CL E G H987110706ORPHA:2050Cole-Carpenter syndromeHP:0040281 - Very frequent5
HP:0000591HP:0000592Blue sclerae1SEC24D CL E G H987110706OMIM:616294Cole-Carpenter syndrome 2.5
HP:0000591HP:0000592Blue sclerae1SERPINH1 CL E G H8711546OMIM:613848Osteogenesis imperfecta, type X.52
HP:0000591HP:0001140Limbal dermoid1SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia.2
HP:0000591HP:0000592Blue sclerae1SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasiaHP:0040282 - Frequent166
HP:0000591HP:0100534Episcleritis1SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0000591HP:0000592Blue sclerae1SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 324
HP:0000591HP:0000592Blue sclerae1SLC39A13 CL E G H9125220859ORPHA:157965SLC39A13-related spondylodysplastic Ehlers-Danlos syndromeHP:0040281 - Very frequent24
HP:0000591HP:0000592Blue sclerae1SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0000591HP:0000592Blue sclerae1TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorderHP:0040283 - Occasional12
HP:0000591HP:0000592Blue sclerae1TENT5A CL E G H5560318345OMIM:617952Osteogenesis imperfecta, type XVIII
HP:0000591HP:0000592Blue sclerae1TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0000591HP:0000592Blue sclerae1TGFBR1 CL E G H704611772ORPHA:60030Loeys-Dietz syndromeHP:0040282 - Frequent239
HP:0000591HP:0000592Blue sclerae1TGFBR1 CL E G H704611772OMIM:609192Loeys-Dietz syndrome 1239
HP:0000591HP:0000592Blue sclerae1TGFBR2 CL E G H704811773ORPHA:60030Loeys-Dietz syndromeHP:0040282 - Frequent253
HP:0000591HP:0000592Blue sclerae1TGFBR2 CL E G H704811773OMIM:610168Loeys-Dietz syndrome 2253
HP:0000591HP:0000592Blue sclerae1TMEM38B CL E G H5515125535OMIM:615066OSTEOGENESIS IMPERFECTA, TYPE XIV; OI144
HP:0000591HP:0000592Blue sclerae1TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional7
HP:0000591HP:0000592Blue sclerae1TRMT5 CL E G H5757023141OMIM:616539Combined oxidative phosphorylation deficiency 26.4
HP:0000591HP:0000592Blue sclerae1UNC45A CL E G H5589830594OMIM:619377OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0000591HP:0100532Scleritis1UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyriaHP:0040284 - Very rare31
HP:0000591HP:0100532Scleritis1UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyriaHP:0040284 - Very rare41
HP:0000591HP:0030854Scleral staphyloma1VPS4A CL E G H2718313488OMIM:619273CIMDAG SYNDROME; CIMDAG1
HP:0000591HP:0000592Blue sclerae1WASF1 CL E G H893612732OMIM:618707NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0000591HP:0000592Blue sclerae1WNT1 CL E G H747112774OMIM:615220Osteogenesis imperfecta, type XV12
HP:0000591HP:0000592Blue sclerae1WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional98
HP:0000591HP:0000592Blue sclerae1XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214
HP:0000591HP:0000592Blue sclerae1XYLT1 CL E G H6413115516ORPHA:1425Desbuquois syndromeHP:0040282 - Frequent14
HP:0000591HP:0000592Blue sclerae1ZNF469 CL E G H8462723216ORPHA:90354Brittle cornea syndromeHP:0040282 - Frequent397
HP:0000591HP:0000592Blue sclerae1ZNF469 CL E G H8462723216OMIM:229200Brittle cornea syndrome.397
HP:0000591HP:0030855Anterior staphyloma2 CL E G H
HP:0000591HP:0030856Posterior staphyloma2ARL2 CL E G H402693OMIM:619082MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1; MRCS1
HP:0000591HP:0030856Posterior staphyloma2BEST1 CL E G H743912703OMIM:193220VITREORETINOCHOROIDOPATHY.182
HP:0000591HP:0030856Posterior staphyloma2HADHA CL E G H30304801ORPHA:5Long chain 3-hydroxyacyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional99
HP:0000591HP:0030856Posterior staphyloma2IMPG2 CL E G H5093918362OMIM:613581RETINITIS PIGMENTOSA 56; RP56120
HP:0000591HP:0030856Posterior staphyloma2MC1R CL E G H41576929ORPHA:79432Oculocutaneous albinism type 2HP:0040283 - Occasional124
HP:0000591HP:0030856Posterior staphyloma2OCA2 CL E G H49488101ORPHA:79432Oculocutaneous albinism type 2HP:0040283 - Occasional121
HP:0000591HP:0030856Posterior staphyloma2PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndromeHP:0040283 - Occasional12


Genes (127) :ABCC6 ADAMTS2 AKT1 ALPL ARL2 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 BCL11A BEST1 BMP1 C1R CA2 CANT1 CHST14 CHST3 CHSY1 CLCNKB COG4 COL12A1 COL1A1 COL1A2 COL3A1 COL5A1 CREB3L1 CRTAP CSGALNACT1 CTSK CYB5A CYB5R3 DACT1 DNASE1L3 DPAGT1 DSE DVL1 DVL3 ENPP1 ESCO2 EXOC6B EXOSC1 FBN1 FGFR1 FKBP10 FKBP14 FZD2 GATA1 GDF11 GHR GNB2 H19-ICR HADHA HGD IDS IFITM5 IGF2 IKBKG IMPG2 INPPL1 IPO8 KDM1A KDM6A KIFBP KMT2D KRAS LRP5 MAP3K7 MBTPS2 MC1R MED27 MEGF8 MESD MFRP MSX2 MVK NFIX NLRP3 NXN OCA2 P4HB PAX1 PAX2 PGM1 PIGT PLOD1 POLR3A POLRMT PPIB PPP1R15B PPP1R21 PRDM5 PRKAR1A PRKG2 PRMT7 PRSS56 PSMB8 PTEN PUS3 PYCR1 RMRP ROR2 RPS23 SALL1 SEC24D SERPINH1 SF3B2 SLC26A2 SLC29A3 SLC39A13 SON TELO2 TENT5A TGFB3 TGFBR1 TGFBR2 TMEM38B TRMT10A TRMT5 UNC45A UROD UROS VPS4A WASF1 WNT1 WNT5A XYLT1 ZNF469

Diseases (144) :ORPHA:758 OMIM:177850 OMIM:225410 OMIM:176920 OMIM:241500 OMIM:619082 OMIM:278250 ORPHA:536467 OMIM:615349 ORPHA:93359 OMIM:271640 OMIM:245600 OMIM:130070 OMIM:617101 OMIM:193220 OMIM:614856 OMIM:130080 ORPHA:2785 ORPHA:1425 OMIM:601776 ORPHA:2953 OMIM:605282 ORPHA:363417 OMIM:607364 OMIM:618150 ORPHA:536516 OMIM:619115 OMIM:166200 OMIM:166210 OMIM:259420 OMIM:166220 OMIM:619120 ORPHA:286 OMIM:130000 OMIM:619329 OMIM:616229 OMIM:610682 ORPHA:763 ORPHA:621 ORPHA:857 ORPHA:36412 ORPHA:86309 OMIM:615539 ORPHA:3107 OMIM:616894 OMIM:268300 ORPHA:3103 OMIM:619304 ORPHA:284979 OMIM:613001 OMIM:610968 OMIM:614557 ORPHA:79277 OMIM:619122 OMIM:262500 ORPHA:633 OMIM:619503 OMIM:180860 ORPHA:5 ORPHA:56 OMIM:203500 ORPHA:217093 ORPHA:217085 OMIM:610967 ORPHA:464 OMIM:613581 ORPHA:2746 ORPHA:60030 OMIM:619472 OMIM:616728 ORPHA:477993 ORPHA:2322 OMIM:147920 OMIM:300867 OMIM:609460 OMIM:600268 ORPHA:3339 ORPHA:2788 OMIM:157800 OMIM:617137 ORPHA:2273 OMIM:301014 ORPHA:79432 OMIM:619286 OMIM:614976 OMIM:618644 OMIM:611040 OMIM:168500 OMIM:610377 ORPHA:29 OMIM:602535 ORPHA:561 ORPHA:575 ORPHA:1507 ORPHA:2050 OMIM:615560 OMIM:120330 OMIM:614921 ORPHA:369837 OMIM:225400 ORPHA:1900 ORPHA:3455 OMIM:264090 OMIM:619743 OMIM:259440 OMIM:616817 ORPHA:391408 OMIM:619383 ORPHA:90354 OMIM:614170 OMIM:160980 OMIM:619638 ORPHA:464288 OMIM:613517 OMIM:256040 ORPHA:2969 OMIM:617051 ORPHA:488627 OMIM:612940 OMIM:614438 ORPHA:175 OMIM:617412 OMIM:616294 OMIM:613848 OMIM:164210 ORPHA:628 OMIM:602782 OMIM:612350 ORPHA:157965 ORPHA:500150 ORPHA:488642 OMIM:617952 OMIM:615582 OMIM:609192 OMIM:610168 OMIM:615066 OMIM:616539 OMIM:619377 ORPHA:95159 OMIM:619273 OMIM:618707 OMIM:615220 OMIM:615777 OMIM:229200
 

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