Abnormality of the eye

Symptom Information:

Symptom ID: HPO:0000478
Synonyms:
Eye disease [HPO:0000478]
Eye and vision anomaly [Orphanet:4000]
Anomalies of eyes and vision [Orphanet:4000]
Quality:
Cross references:
Orphanet:4000 "Anomalies of eyes and vision" [Orphanet:4000]
Is a (Direct Parents):
HPO         Phenotypic abnormality
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the eye(HPO:0000478)
MedDRA:
Database Frequency: 126 / 7739
Resource:

All diseases associated with this symptom:

1p36 deletion syndrome (Orphanet:1606)
6q25 microdeletion syndrome (Orphanet:251056)
ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA (OMIM:102100)
ALG3-CDG (Orphanet:79321)
Acrorenal syndrome (Orphanet:971)
Adult-onset foveomacular vitelliform dystrophy (Orphanet:99000)
Agnathia - holoprosencephaly - situs inversus (Orphanet:990)
Albinism-deafness syndrome (Orphanet:998)
Alkaptonuria (Orphanet:56)
Alpers syndrome (Orphanet:726)
Alpha-N-acetylgalactosaminidase deficiency type 2 (Orphanet:79280)
Angelman syndrome (Orphanet:72)
Antenatal multiminicore disease with arthrogryposis multiplex congenita (Orphanet:178148)
Arachnoiditis (Orphanet:137817)
Ascher syndrome (Orphanet:1253)
Atypical Rett syndrome (Orphanet:3095)
Autosomal dominant Charcot-Marie-Tooth disease type 2J (Orphanet:99943)
Autosomal recessive infantile hypercalcemia (Orphanet:300547)
Autosomal recessive spastic paraplegia type 48 (Orphanet:306511)
Benign familial infantile seizures (Orphanet:306)
Blepharo-cheilo-odontic syndrome (Orphanet:1997)
Brachyolmia type 1, Hobaek type (Orphanet:93301)
CEDNIK syndrome (Orphanet:66631)
CHROMOSOME 8q12.1-q21.2 DELETION SYNDROME (OMIM:600257)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Cardiospondylocarpofacial syndrome (Orphanet:3238)
Cerebrotendinous xanthomatosis (Orphanet:909)
Choanal atresia - deafness - cardiac defects - dysmorphism (Orphanet:1200)
Choreoacanthocytosis (Orphanet:2388)
Choroideremia (Orphanet:180)
Chronic mucocutaneous candidiasis (Orphanet:1334)
Chylomicron retention disease (Orphanet:71)
Congenital disorder of glycosylation (Orphanet:137)
Congenital hypothyroidism (Orphanet:442)
Congenital primary aphakia (Orphanet:83461)
Cutis gyrata - acanthosis nigricans - craniosynostosis (Orphanet:1555)
DEAFNESS, AUTOSOMAL RECESSIVE 12 (OMIM:601386)
DPM1-CDG (Orphanet:79322)
Diabetic embryopathy (Orphanet:1926)
Diprosopia (Orphanet:1681)
Dysequilibrium syndrome (Orphanet:1766)
EEM syndrome (Orphanet:1897)
EPIBLEPHARON OF UPPER LID (OMIM:131460)
Ectodermal dysplasia - blindness (Orphanet:1806)
Ectodermal dysplasia syndrome (Orphanet:79373)
Encephalocraniocutaneous lipomatosis (Orphanet:2396)
Familial melanoma (Orphanet:618)
Fanconi anemia (Orphanet:84)
Farber lipogranulomatosis (Orphanet:333)
Fetal cytomegalovirus syndrome (Orphanet:294)
Fetal parvovirus syndrome (Orphanet:295)
Foveal hypoplasia - presenile cataract (Orphanet:2253)
Gaucher disease type 1 (Orphanet:77259)
Geroderma osteodysplastica (Orphanet:2078)
Gorlin-Chaudhry-Moss syndrome (Orphanet:2095)
Hartnup syndrome (Orphanet:2116)
Hepatic fibrosis - renal cysts - intellectual deficit (Orphanet:2031)
Hereditary sensory and autonomic neuropathy type 2 (Orphanet:970)
Hereditary thrombophilia due to congenital protein C deficiency (Orphanet:745)
Hereditary vascular retinopathy (Orphanet:71291)
Hypoplasminogenemia (Orphanet:722)
IRIS PIGMENT EPITHELIUM ANOMALIES (OMIM:601616)
Iminoglycinuria (Orphanet:42062)
Infantile myofibromatosis (Orphanet:2591)
Infantile-onset ascending hereditary spastic paralysis (Orphanet:293168)
Isolated hereditary congenital facial paralysis (Orphanet:306527)
LEVATOR-MEDIAL RECTUS SYNKINESIS (OMIM:151610)
LOC syndrome (Orphanet:2407)
Late infantile neuronal ceroid lipofuscinosis (Orphanet:168491)
Leprechaunism (Orphanet:508)
Linear nevus sebaceus syndrome (Orphanet:2612)
Locked-in syndrome (Orphanet:2406)
MPDU1-CDG (Orphanet:79323)
MYDRIATIC RESPONSE TO PHARMACOLOGIC AGENTS (OMIM:159410)
MYELINATED OPTIC NERVE FIBERS (OMIM:159500)
MYH9-related thrombocytopenia (Orphanet:182050)
Macrocephaly - spastic paraplegia - dysmorphism (Orphanet:2429)
McCune-Albright syndrome (Orphanet:562)
Melkersson-Rosenthal syndrome (Orphanet:2483)
Microcephaly - lymphedema - chorioretinopathy (Orphanet:2526)
Mosaic variegated aneuploidy syndrome (Orphanet:1052)
Mucous membrane pemphigoid (Orphanet:46486)
Multiple carboxylase deficiency (Orphanet:148)
Multiple epiphyseal dysplasia (Orphanet:251)
NEMALINE MYOPATHY 2 (OMIM:256030)
Narcolepsy-cataplexy (Orphanet:2073)
Neurofibromatosis type 1 (Orphanet:636)
Neuronal ceroid lipofuscinosis (Orphanet:216)
Oculocerebral hypopigmentation syndrome, Cross type (Orphanet:2719)
Oculodentodigital dysplasia (Orphanet:2710)
Oculoosteocutaneous syndrome (Orphanet:2713)
Osteogenesis imperfecta - retinopathy - seizures - intellectual deficit (Orphanet:2773)
Otospondylomegaepiphyseal dysplasia (Orphanet:1427)
PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) (OMIM:614887)
PREPAPILLARY VASCULAR LOOPS (OMIM:264060)
PUPIL, EGG-SHAPED (OMIM:178800)
Peters anomaly (Orphanet:708)
Proximal renal tubular acidosis (Orphanet:47159)
Pterygium of the conjunctiva, familial form (Orphanet:2989)
RECOVERIN (OMIM:179618)
Recombinant 8 syndrome (Orphanet:96167)
Refsum disease (Orphanet:773)
Rett syndrome (Orphanet:778)
Rhombencephalosynapsis (Orphanet:59315)
SETTING-SUN PHENOMENON, FAMILIAL BENIGN (OMIM:600598)
SJOGREN-LARSSON-LIKE ICHTHYOSIS WITHOUT CNS OR EYE INVOLVEMENT (OMIM:270220)
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1 (OMIM:227220)
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5 (OMIM:227240)
Schöpf-Schulz-Passarge syndrome (Orphanet:50944)
Sea-blue histiocytosis (Orphanet:158029)
Silent sinus syndrome (Orphanet:71276)
Spondyloepiphyseal dysplasia, Maroteaux type (Orphanet:263482)
Sternal cleft (Orphanet:2017)
Stickler syndrome type 3 (Orphanet:166100)
Stüve-Wiedemann syndrome (Orphanet:3206)
Sudden infant death - dysgenesis of the testes (Orphanet:168593)
TENTED EYEBROWS (OMIM:611426)
Trisomy 13 (Orphanet:3378)
UNIQUE GREEN PHENOMENON (OMIM:314380)
Waardenburg syndrome (Orphanet:3440)
Waardenburg syndrome type 1 (Orphanet:894)
Waardenburg-Shah syndrome (Orphanet:897)
Wolfram syndrome 1 (OMIM:222300)
X-linked corneal dermoid (Orphanet:1661)
X-linked neurodegenerative syndrome, Bertini type (Orphanet:85334)
X-linked retinoschisis (Orphanet:792)