Aplasia/Hypoplasia affecting the eye
Symptom Information:
| Symptom ID: | HPO:0008056 | ||
| Synonyms: |
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| Quality: | |||
| 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) Aplasia/Hypoplasia affecting the eye(HPO:0008056) MedDRA: |
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| Database Frequency: | 142 / 7739 | ||
| Resource: |
All diseases associated with this symptom:
| 14q22q23 microdeletion syndrome | (Orphanet:264200) |
| 15q24 microdeletion syndrome | (Orphanet:94065) |
| 17q12 microduplication syndrome | (Orphanet:261272) |
| 1q21.1 microdeletion syndrome | (Orphanet:250989) |
| 22q11.2 deletion syndrome | (Orphanet:567) |
| 2q31.1 microdeletion syndrome | (Orphanet:251014) |
| 3q29 microdeletion syndrome | (Orphanet:65286) |
| 3q29 microduplication | (Orphanet:251038) |
| 8q21.11 microdeletion syndrome | (Orphanet:284160) |
| Acro-renal-ocular syndrome | (Orphanet:959) |
| Adams-Oliver syndrome | (Orphanet:974) |
| Aicardi syndrome | (Orphanet:50) |
| Anophthalmia - megalocornea - cardiopathy - skeletal anomalies | (Orphanet:1101) |
| Anophthalmia plus syndrome | (Orphanet:1104) |
| Anophthalmia/microphthalmia - esophageal atresia | (Orphanet:77298) |
| Arrhinia | (Orphanet:1134) |
| Arrhinia - choanal atresia - microphthalmia | (Orphanet:1135) |
| Atrioventricular defect - blepharophimosis -radial defects | (Orphanet:1352) |
| BRESEK syndrome | (Orphanet:85284) |
| Baraitser-Winter syndrome | (Orphanet:2995) |
| COFS syndrome | (Orphanet:1466) |
| Campomelia, Cumming type | (Orphanet:1318) |
| Cartilage-hair hypoplasia | (Orphanet:175) |
| Cat-eye syndrome | (Orphanet:195) |
| Cerebro-oculo-nasal syndrome | (Orphanet:66625) |
| Cloverleaf skull - multiple congenital anomalies | (Orphanet:93267) |
| Cockayne syndrome | (Orphanet:191) |
| Cohen syndrome | (Orphanet:193) |
| Congenital cataracts - facial dysmorphism - neuropathy | (Orphanet:48431) |
| Congenital primary aphakia | (Orphanet:83461) |
| Congenital rubella syndrome | (Orphanet:290) |
| Congenital toxoplasmosis | (Orphanet:858) |
| Craniomicromelic syndrome | (Orphanet:1524) |
| Craniotelencephalic dysplasia | (Orphanet:1528) |
| Curry-Jones syndrome | (Orphanet:1553) |
| Diabetic embryopathy | (Orphanet:1926) |
| Distal monosomy 13q | (Orphanet:1590) |
| Distal trisomy 6p | (Orphanet:1745) |
| Duane retraction syndrome | (Orphanet:233) |
| Ectodermal dysplasia - blindness | (Orphanet:1806) |
| Edinburgh malformation syndrome | (Orphanet:1895) |
| Embryofetopathy due to oral anticoagulant therapy | (Orphanet:1914) |
| Fanconi anemia | (Orphanet:84) |
| Fetal alcohol syndrome | (Orphanet:1915) |
| Fetal varicella syndrome | (Orphanet:291) |
| Focal dermal hypoplasia | (Orphanet:2092) |
| Fraser syndrome | (Orphanet:2052) |
| Fronto-facio-nasal dysostosis | (Orphanet:1791) |
| Frontonasal dysplasia with alopecia and genital anomaly | (Orphanet:228390) |
| Fryns syndrome | (Orphanet:2059) |
| Goldenhar syndrome | (Orphanet:374) |
| Gorlin syndrome | (Orphanet:377) |
| Hallermann-Streiff syndrome | (Orphanet:2108) |
| Hartsfield-Bixler-Demyer syndrome | (Orphanet:2117) |
| Holoprosencephaly | (Orphanet:2162) |
| Holoprosencephaly - postaxial polydactyly | (Orphanet:2166) |
| Holoprosencephaly - radial heart renal anomalies | (Orphanet:3186) |
| Humero-radial synostosis | (Orphanet:3265) |
| Hydrolethalus | (Orphanet:2189) |
| Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism | (Orphanet:2250) |
| Incontinentia pigmenti | (Orphanet:464) |
| Intellectual deficit - athetosis - microphthalmia | (Orphanet:1236) |
| Intellectual deficit, X-linked, Wittwer type | (Orphanet:85291) |
| Ito hypomelanosis | (Orphanet:435) |
| Kapur-Toriello syndrome | (Orphanet:2328) |
| Linear nevus sebaceus syndrome | (Orphanet:2612) |
| MMEP syndrome | (Orphanet:3434) |
| Macrosomia - microphthalmia - cleft palate | (Orphanet:2432) |
| Maternal hyperthermia induced birth defects | (Orphanet:2216) |
| Matthew-Wood syndrome | (Orphanet:2470) |
| Meckel syndrome | (Orphanet:564) |
| Micro syndrome | (Orphanet:2510) |
| Microcephaly - lymphedema - chorioretinopathy | (Orphanet:2526) |
| Microcephaly-microcornea syndrome, Seemanova type | (Orphanet:2528) |
| Microcornea - posterior megalolenticonus - persistent fetal vasculature - coloboma | (Orphanet:231736) |
| Microgastria - limb reduction defect | (Orphanet:2538) |
| Microphthalmia - ankyloblepharon - intellectual deficit | (Orphanet:85275) |
| Microphthalmia - microtia - fetal akinesia | (Orphanet:2547) |
| Microphthalmia with brain and digit anomalies | (Orphanet:139471) |
| Microphthalmia with limb anomalies | (Orphanet:1106) |
| Microphthalmia with linear skin defects syndrome | (Orphanet:2556) |
| Microphthalmia, Lenz type | (Orphanet:568) |
| Monosomy 13q14 | (Orphanet:1587) |
| Monosomy 18p | (Orphanet:1598) |
| Monosomy 9p | (Orphanet:261112) |
| Mosaic trisomy 14 | (Orphanet:1703) |
| Mosaic trisomy 9 | (Orphanet:99776) |
| Mosaic variegated aneuploidy syndrome | (Orphanet:1052) |
| Mowat-Wilson syndrome | (Orphanet:2152) |
| Multiple benign circumferential skin creases on limbs | (Orphanet:2505) |
| Mycophenolate mofetil embryopathy | (Orphanet:268249) |
| Nance-Horan syndrome | (Orphanet:627) |
| Nanophthalmia | (Orphanet:35612) |
| Non-distal trisomy 10q | (Orphanet:1695) |
| Non-distal trisomy 13q | (Orphanet:1702) |
| Norrie disease | (Orphanet:649) |
| Oculo-palato-cerebral syndrome | (Orphanet:2714) |
| Oculoauriculovertebral spectrum with radial defects | (Orphanet:2549) |
| Oculocerebral dysplasia | (Orphanet:2705) |
| Oculocerebral hypopigmentation syndrome, Cross type | (Orphanet:2719) |
| Oculocerebrocutaneous syndrome | (Orphanet:1647) |
| Oculocerebrorenal syndrome | (Orphanet:534) |
| Oculodentodigital dysplasia | (Orphanet:2710) |
| Oculofaciocardiodental syndrome | (Orphanet:2712) |
| Oculomaxillofacial dysostosis | (Orphanet:1794) |
| Oculotrichoanal syndrome | (Orphanet:2717) |
| Osteocraniostenosis | (Orphanet:2763) |
| Osteoporosis - pseudoglioma | (Orphanet:2788) |
| Otodental syndrome | (Orphanet:2791) |
| PHACE syndrome | (Orphanet:42775) |
| Pelvis-shoulder dysplasia | (Orphanet:2839) |
| Peters anomaly | (Orphanet:708) |
| Pilotto syndrome | (Orphanet:2894) |
| Proximal 16p11.2 microdeletion syndrome | (Orphanet:261197) |
| Refsum disease | (Orphanet:773) |
| Retinal degeneration - nanophthalmos - glaucoma | (Orphanet:1574) |
| Ring chromosome 10 | (Orphanet:1438) |
| Roberts syndrome | (Orphanet:3103) |
| Sanjad-Sakati syndrome | (Orphanet:2323) |
| Schwartz-Jampel syndrome | (Orphanet:800) |
| Smith-Lemli-Opitz syndrome | (Orphanet:818) |
| Spondylo-ocular syndrome | (Orphanet:85194) |
| Subaortic stenosis - short stature | (Orphanet:3191) |
| Syngnathia multiple anomalies | (Orphanet:3262) |
| Temtamy syndrome | (Orphanet:1777) |
| Tetraamelia - multiple malformations | (Orphanet:3301) |
| Tetraploidy | (Orphanet:3305) |
| Townes-Brocks syndrome | (Orphanet:857) |
| Treacher-Collins syndrome | (Orphanet:861) |
| Triploidy | (Orphanet:3376) |
| Trisomy 12p | (Orphanet:1699) |
| Trisomy 13 | (Orphanet:3378) |
| Trisomy 18 | (Orphanet:3380) |
| Trisomy 1q | (Orphanet:261344) |
| Uveal coloboma - cleft lip and palate - intellectual deficit | (Orphanet:1473) |
| VACTERL with hydrocephalus | (Orphanet:3412) |
| Walker-Warburg syndrome | (Orphanet:899) |
| X-linked dominant chondrodysplasia punctata | (Orphanet:35173) |
| X-linked dominant chondrodysplasia, Chassaing-Lacombe type | (Orphanet:163966) |
| XK aprosencephaly | (Orphanet:3469) |
| Xp22.3 microdeletion syndrome | (Orphanet:1643) |
| Yunis-Varon syndrome | (Orphanet:3472) |