Blue sclerae

Symptom Information:

Symptom ID: HPO:0000592
Synonyms:
Blue sclera [HPO:0000592]
Bluish sclerae [HPO:0000592]
Blue sclera (disorder) [Orphanet:4560]
Blue sclera [Orphanet:4560]
Blue sclera [OMIM:Blue sclera]
Blue sclerae [OMIM:Blue sclerae]
Bluish sclerae [OMIM:Bluish sclerae]
Blue sclerae [Orphanet:4560]
Scleral discolouration [MedDRA:10039696]
Blue sclerae [MedDRA:10039696]
Scleral discoloration [MedDRA:10039696]
Blue sclerae (in some patients) [OMIM:Blue sclerae (in some patients)]
Blue sclerae (rare) [OMIM:Blue sclerae (rare)]
Bluish sclerae (in 1 patient) [OMIM:Bluish sclerae (in 1 patient)]
Quality:
Cross references:
Orphanet:4560 "Blue sclerae" [Orphanet:4560]
OMIM: "Blue sclera" [OMIM:Blue sclera]
OMIM: "Blue sclerae" [OMIM:Blue sclerae]
OMIM: "Bluish sclerae" [OMIM:Bluish sclerae]
OMIM: "Blue sclerae (in some patients)" [OMIM:Blue sclerae (in some patients)]
OMIM: "Blue sclerae (rare)" [OMIM:Blue sclerae (rare)]
OMIM: "Bluish sclerae (in 1 patient)" [OMIM:Bluish sclerae (in 1 patient)]
UMLS:C0542514 "Blue sclera" [Orphanet:4560]
Is a (Direct Parents):
HPO         Abnormality of the sclera
Orphanet Abnormality of the eye
MedDRA Scleral structural change, deposit and degeneration
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the eye(HPO:0000478)
          Abnormal eye morphology(HPO:0012372)
             Abnormality of the globe(HPO:0012374)
                Abnormality of the sclera(HPO:0000591)
                   Blue sclerae(HPO:0000592)
MedDRA:
Eye disorders(MedDRA:10015919)
    Ocular structural change, deposit and degeneration NEC(MedDRA:10042261)
       Scleral structural change, deposit and degeneration(MedDRA:10039702)
          Blue sclerae(HPO:0000592)
Database Frequency: 85 / 7739
Resource:

All diseases associated with this symptom:

Acromelanosis (Orphanet:39)
Alkaptonuria (Orphanet:56)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Autosomal recessive cutis laxa type 2B (Orphanet:357064)
BRITTLE CORNEA SYNDROME 1 (OMIM:229200)
BRITTLE CORNEA SYNDROME 2 (OMIM:614170)
Braddock syndrome (Orphanet:52047)
Brittle cornea syndrome (Orphanet:90354)
COLE-CARPENTER SYNDROME 2 (OMIM:616294)
Cartilage-hair hypoplasia (Orphanet:175)
Cataract - deafness - hypogonadism (Orphanet:1383)
Cole-Carpenter syndrome (Orphanet:2050)
Congenital osteogenesis imperfecta - microcephaly - cataracts (Orphanet:2772)
DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
De Barsy syndrome (Orphanet:2962)
Desbuquois syndrome (Orphanet:1425)
Diastrophic dwarfism (Orphanet:628)
Dyssegmental dysplasia, Silverman-Handmaker type (Orphanet:1865)
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 (OMIM:601776)
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2 (OMIM:615539)
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 (OMIM:615349)
Ehlers-Danlos syndrome type 1 (Orphanet:90309)
Ehlers-Danlos syndrome, classic type (Orphanet:287)
Ehlers-Danlos syndrome, dermatosparaxis type (Orphanet:1901)
Ehlers-Danlos syndrome, kyphoscoliotic type (Orphanet:1900)
Ehlers-Danlos syndrome, musculocontractural type (Orphanet:2953)
Ehlers-Danlos syndrome, periodontitis type (Orphanet:75392)
Ehlers-Danlos syndrome, spondylocheirodysplastic type (Orphanet:157965)
Ehlers-Danlos syndrome, vascular type (Orphanet:286)
Goldberg-Shprintzen megacolon syndrome (Orphanet:66629)
Grant syndrome (Orphanet:2097)
Grubben-de Cock-Borghgraef syndrome (Orphanet:2101)
Hallermann-Streiff syndrome (Orphanet:2108)
Hydrocephalus - blue sclerae - nephropathy (Orphanet:2186)
Incontinentia pigmenti (Orphanet:464)
Infantile hypophosphatasia (Orphanet:247651)
Intellectual deficit - athetosis - microphthalmia (Orphanet:1236)
KABUKI SYNDROME 1 (OMIM:147920)
Kabuki syndrome (Orphanet:2322)
LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Laron syndrome (Orphanet:633)
Larsen-like syndrome, B3GAT3 type (Orphanet:284139)
Lethal chondrodysplasia, Moerman type (Orphanet:1420)
Loeys-Dietz syndrome type 1 (Orphanet:60030)
Marshall-Smith syndrome (Orphanet:561)
Mevalonic aciduria (Orphanet:29)
OSTEOGENESIS IMPERFECTA WITH OPALESCENT TEETH, BLUE SCLERAE AND WORMIANBONES, BUT WITHOUT FRACTURES (OMIM:166230)
OSTEOGENESIS IMPERFECTA, TYPE I (OMIM:166200)
OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
OSTEOGENESIS IMPERFECTA, TYPE IX (OMIM:259440)
OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
OSTEOGENESIS IMPERFECTA, TYPE XI (OMIM:610968)
OSTEOGENESIS IMPERFECTA, TYPE XIII (OMIM:614856)
OSTEOGENESIS IMPERFECTA, TYPE XV (OMIM:615220)
OTOFACIOCERVICAL SYNDROME 2 (OMIM:615560)
Opsismodysplasia (Orphanet:2746)
Osteocraniostenosis (Orphanet:2763)
Osteogenesis imperfecta (Orphanet:666)
Osteogenesis imperfecta type 1 (Orphanet:216796)
Osteogenesis imperfecta type 2 (Orphanet:216804)
Osteogenesis imperfecta type 3 (Orphanet:216812)
Osteogenesis imperfecta type 4 (Orphanet:216820)
Osteogenesis imperfecta type 5 (Orphanet:216828)
PSEUDOXANTHOMA ELASTICUM, FORME FRUSTEPSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS, INCLUDED (OMIM:177850)
PYCR1-related DeBarsy syndrome (Orphanet:293633)
Pelvic dysplasia - arthrogryposis of lower limbs (Orphanet:2840)
Perinatal lethal hypophosphatasia (Orphanet:247623)
Phakomatosis pigmentovascularis (Orphanet:2875)
Pseudoxanthoma elasticum (Orphanet:758)
Pycnodysostosis (Orphanet:763)
RIENHOFF SYNDROME (OMIM:615582)
ROBERTS SYNDROME (OMIM:268300)
Roberts syndrome (Orphanet:3103)
SC PHOCOMELIA SYNDROME (OMIM:269000)
Sensorineural hearing loss - early graying - essential tremor (Orphanet:66633)
Silver-Russell syndrome (Orphanet:813)
Spondyloepimetaphyseal dysplasia - abnormal dentition (Orphanet:168451)
Spondyloepimetaphyseal dysplasia with joint laxity (Orphanet:93359)
Spondyloepiphyseal dysplasia, MacDermot type (Orphanet:163668)
Temtamy preaxial brachydactyly syndrome (Orphanet:363417)
White forelock with malformations (Orphanet:2475)
Wiedemann-Rautenstrauch syndrome (Orphanet:3455)