Human Phenotype Ontology 
Grandparent Node:
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obsolete Abnormal globe morphology (HP:0012374)help
Parent Node:
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Abnormal sclera morphology (HP:0000591)help
..Starting node
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Blue sclerae (HP:0000592)help
Term ID: 592
Name: Blue sclerae
Synonym: Blue outer white part of eyeball; Blue sclera; Bluish sclerae; Gray sclerae; Grey sclerae; Whites of eyes are a bluish-gray color; Whites of eyes are a bluish-gray colour
Definition: An abnormal bluish coloration of the sclera.
Comments:
Reference: HP:0000592
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDeep episcleral hyperemia (HP:0025340) help
..expandEpiscleritis (HP:0100534) help
..expandLimbal dermoid (HP:0001140) help
..expandOcular melanocytosis (HP:0025534) help
..expandPigmentation of the sclera (HP:0007832) help
..expandScleral rupture (HP:0025513) help
..expandScleral schwannoma (HP:0100011) help
..expandScleral staphyloma (HP:0030854) help
..expandScleral thickening (HP:0030823) help
..expandScleritis (HP:0100532) help
..expandSuperficial episcleral hyperemia (HP:0025339) 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:0000592HP:0000592Blue sclerae0ABCC6 CL E G H36857ORPHA:758Pseudoxanthoma elasticumHP:0040283 - Occasional415
HP:0000592HP:0000592Blue sclerae0ABCC6 CL E G H36857OMIM:177850Pseudoxanthoma elasticum, forme fruste.415
HP:0000592HP:0000592Blue sclerae0ADAMTS2 CL E G H9509218OMIM:225410Ehlers-Danlos syndrome, type VII, autosomal recessive.165
HP:0000592HP:0000592Blue sclerae0ALPL CL E G H249438OMIM:241500Hypophosphatasia, infantile.126
HP:0000592HP:0000592Blue sclerae0ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome140
HP:0000592HP:0000592Blue sclerae0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent38
HP:0000592HP:0000592Blue sclerae0B3GALT6 CL E G H12679217978OMIM:615349Ehlers-Danlos syndrome, spondylodysplastic type, 2.38
HP:0000592HP:0000592Blue sclerae0B3GALT6 CL E G H12679217978ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxityHP:0040282 - Frequent38
HP:0000592HP:0000592Blue sclerae0B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures38
HP:0000592HP:0000592Blue sclerae0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects5
HP:0000592HP:0000592Blue sclerae0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 129
HP:0000592HP:0000592Blue sclerae0BCL11A CL E G H5333513221OMIM:617101Intellectual developmental disorder with persistence of fetal hemoglobin.11
HP:0000592HP:0000592Blue sclerae0BMP1 CL E G H6491067OMIM:614856Osteogenesis imperfecta, type XIIIHP:0040283 - Occasional49
HP:0000592HP:0000592Blue sclerae0C1R CL E G H7151246OMIM:130080Ehlers-Danlos syndrome, periodontal type, 1.15
HP:0000592HP:0000592Blue sclerae0CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosis29
HP:0000592HP:0000592Blue sclerae0CANT1 CL E G H12458319721ORPHA:1425Desbuquois syndromeHP:0040282 - Frequent85
HP:0000592HP:0000592Blue sclerae0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1.27
HP:0000592HP:0000592Blue sclerae0CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent27
HP:0000592HP:0000592Blue sclerae0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects165
HP:0000592HP:0000592Blue sclerae0CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndromeHP:0040283 - Occasional16
HP:0000592HP:0000592Blue sclerae0CHSY1 CL E G H2285617198OMIM:605282Temtamy preaxial brachydactyly syndromeHP:0040283 - Occasional16
HP:0000592HP:0000592Blue sclerae0COG4 CL E G H2583918620OMIM:618150Saul-Wilson syndrome.67
HP:0000592HP:0000592Blue sclerae0COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndromeHP:0040283 - Occasional65
HP:0000592HP:0000592Blue sclerae0COL1A1 CL E G H12772197OMIM:619115COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1373
HP:0000592HP:0000592Blue sclerae0COL1A1 CL E G H12772197OMIM:166200Osteogenesis imperfecta, type I.373
HP:0000592HP:0000592Blue sclerae0COL1A1 CL E G H12772197OMIM:166210Osteogenesis imperfecta, type IIA.373
HP:0000592HP:0000592Blue sclerae0COL1A1 CL E G H12772197OMIM:259420Osteogenesis imperfecta, type III.HP:0003577 - Congenital onset373
HP:0000592HP:0000592Blue sclerae0COL1A1 CL E G H12772197OMIM:166220Osteogenesis imperfecta, type IV373
HP:0000592HP:0000592Blue sclerae0COL1A2 CL E G H12782198OMIM:619120COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2243
HP:0000592HP:0000592Blue sclerae0COL1A2 CL E G H12782198OMIM:166210Osteogenesis imperfecta, type IIA.243
HP:0000592HP:0000592Blue sclerae0COL1A2 CL E G H12782198OMIM:259420Osteogenesis imperfecta, type III.HP:0003577 - Congenital onset243
HP:0000592HP:0000592Blue sclerae0COL1A2 CL E G H12782198OMIM:166220Osteogenesis imperfecta, type IV243
HP:0000592HP:0000592Blue sclerae0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040283 - Occasional749
HP:0000592HP:0000592Blue sclerae0COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I.660
HP:0000592HP:0000592Blue sclerae0COL5A1 CL E G H12892209OMIM:619329FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF660
HP:0000592HP:0000592Blue sclerae0CREB3L1 CL E G H9099318856OMIM:616229Osteogenesis imperfecta, type XVI.4
HP:0000592HP:0000592Blue sclerae0CRTAP CL E G H104912379OMIM:610682Osteogenesis imperfecta, type VII.124
HP:0000592HP:0000592Blue sclerae0CSGALNACT1 CL E G H5579024290ORPHA:1425Desbuquois syndromeHP:0040282 - Frequent
HP:0000592HP:0000592Blue sclerae0CTSK CL E G H15132536ORPHA:763PycnodysostosisHP:0040282 - Frequent39
HP:0000592HP:0000592Blue sclerae0CYB5A CL E G H15282570ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional2
HP:0000592HP:0000592Blue sclerae0CYB5R3 CL E G H17272873ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional24
HP:0000592HP:0000592Blue sclerae0DSE CL E G H2994021144OMIM:615539Ehlers-Danlos syndrome, musculocontractural type, 2.13
HP:0000592HP:0000592Blue sclerae0DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent13
HP:0000592HP:0000592Blue sclerae0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional14
HP:0000592HP:0000592Blue sclerae0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional5
HP:0000592HP:0000592Blue sclerae0DVL3 CL E G H18573087OMIM:616894ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS35
HP:0000592HP:0000592Blue sclerae0ENPP1 CL E G H51673356ORPHA:758Pseudoxanthoma elasticumHP:0040283 - Occasional151
HP:0000592HP:0000592Blue sclerae0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040283 - Occasional92
HP:0000592HP:0000592Blue sclerae0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0000592HP:0000592Blue sclerae0EXOC6B CL E G H2323317085ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxityHP:0040282 - Frequent3
HP:0000592HP:0000592Blue sclerae0EXOSC1 CL E G H5101317286OMIM:619304PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0000592HP:0000592Blue sclerae0FBN1 CL E G H22003603ORPHA:284979Neonatal Marfan syndromeHP:0040282 - Frequent1361
HP:0000592HP:0000592Blue sclerae0FKBP10 CL E G H6068118169OMIM:610968Osteogenesis imperfecta, type XI.61
HP:0000592HP:0000592Blue sclerae0FKBP14 CL E G H5503318625OMIM:614557Ehlers-Danlos syndrome, kyphoscoliotic type, 213
HP:0000592HP:0000592Blue sclerae0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional
HP:0000592HP:0000592Blue sclerae0GDF11 CL E G H102204216OMIM:619122VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0000592HP:0000592Blue sclerae0GHR CL E G H26904263ORPHA:633Laron syndromeHP:0040283 - Occasional98
HP:0000592HP:0000592Blue sclerae0GHR CL E G H26904263OMIM:262500Laron syndromeHP:0040283 - Occasional98
HP:0000592HP:0000592Blue sclerae0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000592HP:0000592Blue sclerae0H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome.
HP:0000592HP:0000592Blue sclerae0HGD CL E G H30814892ORPHA:56AlkaptonuriaHP:0040281 - Very frequent77
HP:0000592HP:0000592Blue sclerae0IFITM5 CL E G H38773316644OMIM:610967Osteogenesis imperfecta, type V8
HP:0000592HP:0000592Blue sclerae0IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome.9
HP:0000592HP:0000592Blue sclerae0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmentiHP:0040283 - Occasional52
HP:0000592HP:0000592Blue sclerae0INPPL1 CL E G H36366080ORPHA:2746OpsismodysplasiaHP:0040283 - Occasional18
HP:0000592HP:0000592Blue sclerae0IPO8 CL E G H105269853ORPHA:60030Loeys-Dietz syndromeHP:0040282 - Frequent
HP:0000592HP:0000592Blue sclerae0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0000592HP:0000592Blue sclerae0KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0000592HP:0000592Blue sclerae0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeHP:0040283 - Occasional3
HP:0000592HP:0000592Blue sclerae0KDM6A CL E G H740312637ORPHA:2322Kabuki syndromeHP:0040283 - Occasional53
HP:0000592HP:0000592Blue sclerae0KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 1.53
HP:0000592HP:0000592Blue sclerae0KDM6A CL E G H740312637OMIM:300867Kabuki syndrome 253
HP:0000592HP:0000592Blue sclerae0KIFBP CL E G H2612823419OMIM:609460Goldberg-Shprintzen syndrome.
HP:0000592HP:0000592Blue sclerae0KMT2D CL E G H80857133ORPHA:2322Kabuki syndromeHP:0040283 - Occasional660
HP:0000592HP:0000592Blue sclerae0KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1.660
HP:0000592HP:0000592Blue sclerae0LRP5 CL E G H40416697ORPHA:2788Osteoporosis-pseudoglioma syndromeHP:0040284 - Very rare125
HP:0000592HP:0000592Blue sclerae0MAP3K7 CL E G H68856859OMIM:157800Cardiospondylocarpofacial syndrome11
HP:0000592HP:0000592Blue sclerae0MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 2HP:0040283 - Occasional11
HP:0000592HP:0000592Blue sclerae0MBTPS2 CL E G H5136015455OMIM:301014Osteogenesis imperfecta, type XIX.22
HP:0000592HP:0000592Blue sclerae0MED27 CL E G H94422377OMIM:619286NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0000592HP:0000592Blue sclerae0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0000592HP:0000592Blue sclerae0MESD CL E G H2318413520OMIM:618644OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000592HP:0000592Blue sclerae0MSX2 CL E G H44887392OMIM:168500Parietal foramina45
HP:0000592HP:0000592Blue sclerae0MVK CL E G H45987530ORPHA:29Mevalonic aciduriaHP:0040282 - Frequent150
HP:0000592HP:0000592Blue sclerae0MVK CL E G H45987530OMIM:610377Mevalonic aciduria150
HP:0000592HP:0000592Blue sclerae0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome.40
HP:0000592HP:0000592Blue sclerae0NFIX CL E G H47847788ORPHA:561Marshall-Smith syndromeHP:0040282 - Frequent40
HP:0000592HP:0000592Blue sclerae0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional2
HP:0000592HP:0000592Blue sclerae0P4HB CL E G H50348548ORPHA:2050Cole-Carpenter syndromeHP:0040281 - Very frequent2
HP:0000592HP:0000592Blue sclerae0PAX1 CL E G H50758615OMIM:615560Otofaciocervical syndrome 2HP:0040283 - Occasional3
HP:0000592HP:0000592Blue sclerae0PGM1 CL E G H52368905OMIM:614921Congenital disorder of glycosylation, type It58
HP:0000592HP:0000592Blue sclerae0PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1105
HP:0000592HP:0000592Blue sclerae0PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyHP:0040283 - Occasional105
HP:0000592HP:0000592Blue sclerae0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040284 - Very rare138
HP:0000592HP:0000592Blue sclerae0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome.138
HP:0000592HP:0000592Blue sclerae0POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0000592HP:0000592Blue sclerae0PPIB CL E G H54799255OMIM:259440Osteogenesis imperfecta, type IX.39
HP:0000592HP:0000592Blue sclerae0PPP1R15B CL E G H8491914951OMIM:616817Microcephaly, short stature, and impaired glucose metabolism 2HP:0040283 - Occasional2
HP:0000592HP:0000592Blue sclerae0PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional2
HP:0000592HP:0000592Blue sclerae0PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000592HP:0000592Blue sclerae0PRDM5 CL E G H111079349ORPHA:90354Brittle cornea syndromeHP:0040282 - Frequent58
HP:0000592HP:0000592Blue sclerae0PRDM5 CL E G H111079349OMIM:614170Brittle cornea syndrome 2.58
HP:0000592HP:0000592Blue sclerae0PRKG2 CL E G H55939416OMIM:619638SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0000592HP:0000592Blue sclerae0PRMT7 CL E G H5449625557ORPHA:464288Short stature-brachydactyly-obesity-global developmental delay syndromeHP:0040283 - Occasional6
HP:0000592HP:0000592Blue sclerae0PUS3 CL E G H8348025461OMIM:617051MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT551
HP:0000592HP:0000592Blue sclerae0PUS3 CL E G H8348025461ORPHA:488627Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndromeHP:0040283 - Occasional1
HP:0000592HP:0000592Blue sclerae0PYCR1 CL E G H58319721OMIM:612940Cutis laxa, autosomal recessive, type IIB.53
HP:0000592HP:0000592Blue sclerae0PYCR1 CL E G H58319721OMIM:614438Cutis laxa, autosomal recessive, type IIIB.53
HP:0000592HP:0000592Blue sclerae0RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasiaHP:0040281 - Very frequent37
HP:0000592HP:0000592Blue sclerae0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional120
HP:0000592HP:0000592Blue sclerae0RPS23 CL E G H622810410OMIM:617412BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD2
HP:0000592HP:0000592Blue sclerae0SEC24D CL E G H987110706ORPHA:2050Cole-Carpenter syndromeHP:0040281 - Very frequent5
HP:0000592HP:0000592Blue sclerae0SEC24D CL E G H987110706OMIM:616294Cole-Carpenter syndrome 2.5
HP:0000592HP:0000592Blue sclerae0SERPINH1 CL E G H8711546OMIM:613848Osteogenesis imperfecta, type X.52
HP:0000592HP:0000592Blue sclerae0SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasiaHP:0040282 - Frequent166
HP:0000592HP:0000592Blue sclerae0SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 324
HP:0000592HP:0000592Blue sclerae0SLC39A13 CL E G H9125220859ORPHA:157965SLC39A13-related spondylodysplastic Ehlers-Danlos syndromeHP:0040281 - Very frequent24
HP:0000592HP:0000592Blue sclerae0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0000592HP:0000592Blue sclerae0TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorderHP:0040283 - Occasional12
HP:0000592HP:0000592Blue sclerae0TENT5A CL E G H5560318345OMIM:617952Osteogenesis imperfecta, type XVIII
HP:0000592HP:0000592Blue sclerae0TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0000592HP:0000592Blue sclerae0TGFBR1 CL E G H704611772ORPHA:60030Loeys-Dietz syndromeHP:0040282 - Frequent239
HP:0000592HP:0000592Blue sclerae0TGFBR1 CL E G H704611772OMIM:609192Loeys-Dietz syndrome 1239
HP:0000592HP:0000592Blue sclerae0TGFBR2 CL E G H704811773ORPHA:60030Loeys-Dietz syndromeHP:0040282 - Frequent253
HP:0000592HP:0000592Blue sclerae0TGFBR2 CL E G H704811773OMIM:610168Loeys-Dietz syndrome 2253
HP:0000592HP:0000592Blue sclerae0TMEM38B CL E G H5515125535OMIM:615066OSTEOGENESIS IMPERFECTA, TYPE XIV; OI144
HP:0000592HP:0000592Blue sclerae0TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional7
HP:0000592HP:0000592Blue sclerae0TRMT5 CL E G H5757023141OMIM:616539Combined oxidative phosphorylation deficiency 26.4
HP:0000592HP:0000592Blue sclerae0UNC45A CL E G H5589830594OMIM:619377OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0000592HP:0000592Blue sclerae0WASF1 CL E G H893612732OMIM:618707NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0000592HP:0000592Blue sclerae0WNT1 CL E G H747112774OMIM:615220Osteogenesis imperfecta, type XV12
HP:0000592HP:0000592Blue sclerae0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional98
HP:0000592HP:0000592Blue sclerae0XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214
HP:0000592HP:0000592Blue sclerae0XYLT1 CL E G H6413115516ORPHA:1425Desbuquois syndromeHP:0040282 - Frequent14
HP:0000592HP:0000592Blue sclerae0ZNF469 CL E G H8462723216OMIM:229200Brittle cornea syndrome.397
HP:0000592HP:0000592Blue sclerae0ZNF469 CL E G H8462723216ORPHA:90354Brittle cornea syndromeHP:0040282 - Frequent397


Genes (98) :ABCC6 ADAMTS2 ALPL ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 BCL11A BMP1 C1R CA2 CANT1 CHST14 CHST3 CHSY1 COG4 COL12A1 COL1A1 COL1A2 COL3A1 COL5A1 CREB3L1 CRTAP CSGALNACT1 CTSK CYB5A CYB5R3 DSE DVL1 DVL3 ENPP1 ESCO2 EXOC6B EXOSC1 FBN1 FKBP10 FKBP14 FZD2 GDF11 GHR GNB2 H19-ICR HGD IFITM5 IGF2 IKBKG INPPL1 IPO8 KDM1A KDM6A KIFBP KMT2D LRP5 MAP3K7 MBTPS2 MED27 MEGF8 MESD MSX2 MVK NFIX NXN P4HB PAX1 PGM1 PLOD1 POLR3A POLRMT PPIB PPP1R15B PPP1R21 PRDM5 PRKG2 PRMT7 PUS3 PYCR1 RMRP ROR2 RPS23 SEC24D SERPINH1 SLC26A2 SLC39A13 SON TELO2 TENT5A TGFB3 TGFBR1 TGFBR2 TMEM38B TRMT10A TRMT5 UNC45A WASF1 WNT1 WNT5A XYLT1 ZNF469

Diseases (114) :ORPHA:758 OMIM:177850 OMIM:225410 OMIM:241500 OMIM:278250 ORPHA:536467 OMIM:615349 ORPHA:93359 OMIM:271640 OMIM:245600 OMIM:130070 OMIM:617101 OMIM:614856 OMIM:130080 ORPHA:2785 ORPHA:1425 OMIM:601776 ORPHA:2953 ORPHA:363417 OMIM:605282 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 OMIM:615539 ORPHA:3107 OMIM:616894 ORPHA:3103 OMIM:268300 OMIM:619304 ORPHA:284979 OMIM:610968 OMIM:614557 OMIM:619122 ORPHA:633 OMIM:262500 OMIM:619503 OMIM:180860 ORPHA:56 OMIM:610967 ORPHA:464 ORPHA:2746 ORPHA:60030 OMIM:619472 OMIM:616728 ORPHA:477993 ORPHA:2322 OMIM:147920 OMIM:300867 OMIM:609460 ORPHA:2788 OMIM:157800 OMIM:617137 OMIM:301014 OMIM:619286 OMIM:614976 OMIM:618644 OMIM:168500 ORPHA:29 OMIM:610377 OMIM:602535 ORPHA:561 ORPHA:1507 ORPHA:2050 OMIM:615560 OMIM:614921 OMIM:225400 ORPHA:1900 ORPHA:3455 OMIM:264090 OMIM:619743 OMIM:259440 OMIM:616817 ORPHA:391408 OMIM:619383 ORPHA:90354 OMIM:614170 OMIM:619638 ORPHA:464288 OMIM:617051 ORPHA:488627 OMIM:612940 OMIM:614438 ORPHA:175 OMIM:617412 OMIM:616294 OMIM:613848 ORPHA:628 OMIM:612350 ORPHA:157965 ORPHA:500150 ORPHA:488642 OMIM:617952 OMIM:615582 OMIM:609192 OMIM:610168 OMIM:615066 OMIM:616539 OMIM:619377 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.