Deeply set eye
Symptom Information:
Symptom ID: | HPO:0000490 | |||||||||||||||||||||||||||
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 globe location(HPO:0100886) Deeply set eye(HPO:0000490) Abnormality of head or neck(HPO:0000152) Abnormality of the head(HPO:0000234) Abnormality of the face(HPO:0000271) Abnormality of the orbital region(HPO:0000315) Abnormality of globe location(HPO:0100886) Deeply set eye(HPO:0000490) obsolete Abnormality of the ocular region(HPO:0000284) Abnormality of globe location(HPO:0100886) Deeply set eye(HPO:0000490) MedDRA: Eye disorders(MedDRA:10015919) Ocular structural change, deposit and degeneration NEC(MedDRA:10042261) Orbital structural change, deposit and degeneration(MedDRA:10031055) Deeply set eye(HPO:0000490) Structural change, deposit and degeneration of eye NEC(MedDRA:10042260) Deeply set eye(HPO:0000490) |
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Database Frequency: | 131 / 7739 | |||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
10q22.3q23.3 microduplication syndrome | (Orphanet:276422) |
12q14 microdeletion syndrome | (Orphanet:94063) |
14q11.2 microdeletion syndrome | (Orphanet:261120) |
15q14 microdeletion syndrome | (Orphanet:261190) |
15q24 microdeletion syndrome | (Orphanet:94065) |
16p11.2p12.2 microdeletion syndrome | (Orphanet:261211) |
17q12 microduplication syndrome | (Orphanet:261272) |
1p36 deletion syndrome | (Orphanet:1606) |
1q21.1 microdeletion syndrome | (Orphanet:250989) |
1q41q42 microdeletion syndrome | (Orphanet:250999) |
2q37 microdeletion syndrome | (Orphanet:1001) |
5q14.3 microdeletion syndrome | (Orphanet:228384) |
6p22 microdeletion syndrome | (Orphanet:251046) |
8p23.1 microdeletion syndrome | (Orphanet:251071) |
8p23.1 microduplication syndrome | (Orphanet:251076) |
ARTHROGRYPOSIS, DISTAL, TYPE 2A | (OMIM:193700) |
Acrofacial dysostosis, Rodriguez type | (Orphanet:1788) |
Alagille syndrome | (Orphanet:52) |
Alagille syndrome due to 20p12 microdeletion | (Orphanet:261600) |
Alagille syndrome due to a JAG1 point mutation | (Orphanet:261619) |
Alström syndrome | (Orphanet:64) |
Angelman syndrome | (Orphanet:72) |
Arthrogryposis with oculomotor limitation and electroretinal anomalies | (Orphanet:1154) |
Atypical Rett syndrome | (Orphanet:3095) |
Autosomal dominant hyper-IgE syndrome | (Orphanet:2314) |
Autosomal recessive cutis laxa type 2B | (Orphanet:357064) |
Bangstad syndrome | (Orphanet:1227) |
Bardet-Biedl syndrome 4 | (OMIM:615982) |
Barth syndrome | (Orphanet:111) |
Beckwith-Wiedemann syndrome due to 11p15 microdeletion | (Orphanet:231127) |
Borjeson-Forssman-Lehmann syndrome | (Orphanet:127) |
CEREBROOCULOFACIOSKELETAL SYNDROME 1 | (OMIM:214150) |
CEREBROOCULOFACIOSKELETAL SYNDROME 2 | (OMIM:610756) |
CEREBROOCULOFACIOSKELETAL SYNDROME 4 | (OMIM:610758) |
COFS syndrome | (Orphanet:1466) |
CORPUS CALLOSUM, AGENESIS OF | (OMIM:217990) |
Chondrodysplasia - disorder of sex development | (Orphanet:1422) |
Christianson syndrome | (Orphanet:85278) |
Cockayne syndrome | (Orphanet:191) |
Congenital Horner syndrome | (Orphanet:91413) |
Cystic fibrosis - gastritis - megaloblastic anemia | (Orphanet:2575) |
Deafness-craniofacial syndrome | (Orphanet:3241) |
Dermato-cardio-skeletal syndrome, Borrone type | (Orphanet:1266) |
Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type | (Orphanet:363444) |
Disorder of sex development - intellectual deficit | (Orphanet:2983) |
Distal 22q11.2 microdeletion syndrome | (Orphanet:261330) |
Distal 22q11.2 microduplication syndrome | (Orphanet:261337) |
Duane retraction syndrome | (Orphanet:233) |
ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVEFACIAL FEATURES | (OMIM:609944) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 | (OMIM:300672) |
EXUDATIVE VITREORETINOPATHY 2, X-LINKED | (OMIM:305390) |
Ectodermal dysplasia - intellectual deficit - central nervous system malformation | (Orphanet:1812) |
Ehlers-Danlos syndrome, vascular type | (Orphanet:286) |
Emanuel syndrome | (Orphanet:96170) |
Encephalopathy due to sulfite oxidase deficiency | (Orphanet:833) |
Epidermolysis bullosa simplex with pyloric atresia | (Orphanet:158684) |
FORSYTHE-WAKELING SYNDROME | (OMIM:613606) |
Floating-Harbor syndrome | (Orphanet:2044) |
Freeman-Sheldon syndrome | (Orphanet:2053) |
GRANDDAD SYNDROME | (OMIM:138920) |
Geroderma osteodysplastica | (Orphanet:2078) |
Glycogen storage disease due to glycogen debranching enzyme deficiency | (Orphanet:366) |
Holoprosencephaly | (Orphanet:2162) |
Hydrolethalus | (Orphanet:2189) |
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES | (OMIM:615966) |
Intellectual deficit - balding - patella luxation - acromicria | (Orphanet:3041) |
Intellectual deficit - cataracts - calcified pinnae - myopathy | (Orphanet:3042) |
Intellectual deficit - dysmorphism - hypogonadism - diabetes mellitus | (Orphanet:3044) |
Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures | (Orphanet:1568) |
Intellectual deficit, X-linked - cubitus valgus - dysmorphism | (Orphanet:85280) |
Intellectual deficit, X-linked, Brooks type | (Orphanet:3056) |
Intellectual deficit, X-linked, Nascimento type | (Orphanet:163956) |
Joubert syndrome 14 | (OMIM:614424) |
Lacrimo-auriculo-dento-digital syndrome | (Orphanet:2363) |
Langer-Giedion syndrome | (Orphanet:502) |
Leber congenital amaurosis 10 | (OMIM:611755) |
Lethal encephalopathy due to mitochondrial and peroxisomal fission defect | (Orphanet:330050) |
Lipodystrophy - intellectual deficit - deafness | (Orphanet:50811) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 | (OMIM:614104) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 | (OMIM:615541) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45 | (OMIM:615979) |
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 | (OMIM:614114) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 7 | (OMIM:614643) |
Macrocephaly - spastic paraplegia - dysmorphism | (Orphanet:2429) |
Marfan syndrome type 1 | (Orphanet:284963) |
Megalencephaly | (Orphanet:2477) |
Megalencephaly-capillary malformation-polymicrogyria syndrome | (Orphanet:60040) |
Micro syndrome | (Orphanet:2510) |
Microbrachycephaly - ptosis - cleft lip | (Orphanet:2511) |
Monosomy 22q13 | (Orphanet:48652) |
Morse-Rawnsley-Sargent syndrome | (Orphanet:2570) |
Mosaic trisomy 8 | (Orphanet:96061) |
Mowat-Wilson syndrome | (Orphanet:2152) |
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism | (Orphanet:280679) |
Myhre syndrome | (Orphanet:2588) |
Neuralgic amyotrophy | (Orphanet:2901) |
Norrie disease | (Orphanet:649) |
Oculocerebrorenal syndrome | (Orphanet:534) |
Oculodentodigital dysplasia | (Orphanet:2710) |
PITUITARY HORMONE DEFICIENCY, COMBINED, 1 | (OMIM:613038) |
PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY | (OMIM:602342) |
Paternal 20q13.2q13.3 microdeletion syndrome | (Orphanet:261304) |
Perlman syndrome | (Orphanet:2849) |
Pitt-Hopkins syndrome | (Orphanet:2896) |
Pontocerebellar hypoplasia type 6 | (Orphanet:166073) |
Progeria - short stature - pigmented nevi | (Orphanet:2959) |
Progressive hemifacial atrophy | (Orphanet:1214) |
RHYNS syndrome | (Orphanet:140976) |
Rothmund-Thomson syndrome | (Orphanet:2909) |
Rubinstein-Taybi syndrome due to CREBBP mutations | (Orphanet:353277) |
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, ANDSKELETAL ABNORMALITIES | (OMIM:602471) |
SHORT syndrome | (Orphanet:3163) |
Sanjad-Sakati syndrome | (Orphanet:2323) |
Short stature - intellectual deficit - eye anomalies - cleft lip/palate | (Orphanet:2649) |
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | (Orphanet:314394) |
Silent sinus syndrome | (Orphanet:71276) |
Smith-Magenis syndrome | (Orphanet:819) |
Stormorken-Sjaastad-Langslet syndrome | (Orphanet:3204) |
Syndromic X-linked intellectual deficit due to JARID1C mutation | (Orphanet:85279) |
Trisomy 13 | (Orphanet:3378) |
Trisomy 9p | (Orphanet:236) |
WARBURG MICRO SYNDROME 1 | (OMIM:600118) |
WARBURG MICRO SYNDROME 4 | (OMIM:615663) |
WEBB-DATTANI SYNDROME | (OMIM:615926) |
Weaver-Williams syndrome | (Orphanet:3448) |
Wilson-Turner syndrome | (Orphanet:3459) |
X-linked intellectual deficit - cerebellar hypoplasia | (Orphanet:137831) |
X-linked intellectual disability due to GRIA3 anomalies | (Orphanet:364028) |
XFE PROGEROID SYNDROME | (OMIM:610965) |
Xeroderma pigmentosum complementation group F | (Orphanet:276264) |
Xq27.3q28 duplication syndrome | (Orphanet:261483) |