Aplasia/Hypoplasia affecting the eye

Symptom Information:

Symptom ID: HPO:0008056
Cross references:
Is a (Direct Parents):
HPO         Abnormality of the globe
Is a (Whole tree): HPO:
    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)
Database Frequency: 142 / 7739

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)