Blue sclerae
Symptom Information:
Symptom ID: | HPO:0000592 | ||||||||||||||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): |
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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) |
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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) |