Abnormality of the optic disc

Symptom Information:

Symptom ID: HPO:0012795
Cross references:
Is a (Direct Parents):
HPO         Increased cup-to-disc ratio
Is a (Whole tree): HPO:
Database Frequency: 187 / 7739
Resource: HPO

All diseases associated with this symptom:

14q22q23 microdeletion syndrome (Orphanet:264200)
16q24.3 microdeletion syndrome (Orphanet:261250)
1p36 deletion syndrome (Orphanet:1606)
1q44 microdeletion syndrome (Orphanet:238769)
22q11.2 deletion syndrome (Orphanet:567)
2p15p16.1 microdeletion syndrome (Orphanet:261349)
3C syndrome (Orphanet:7)
5q14.3 microdeletion syndrome (Orphanet:228384)
Acro-oto-ocular syndrome (Orphanet:2980)
Acro-renal-ocular syndrome (Orphanet:959)
Aicardi syndrome (Orphanet:50)
Albers-Schönberg osteopetrosis (Orphanet:53)
Alpha-N-acetylgalactosaminidase deficiency type 1 (Orphanet:79279)
Alpha-thalassemia - X-linked intellectual deficit syndrome (Orphanet:847)
Alström syndrome (Orphanet:64)
Amaurosis - hypertrichosis (Orphanet:1021)
Amish lethal microcephaly (Orphanet:99742)
Aniridia (Orphanet:77)
Aniridia-intellectual deficit syndrome (Orphanet:1068)
Anophthalmia - megalocornea - cardiopathy - skeletal anomalies (Orphanet:1101)
Apert syndrome (Orphanet:87)
Arthrogryposis with oculomotor limitation and electroretinal anomalies (Orphanet:1154)
Auriculoocular anomalies - cleft lip (Orphanet:71270)
Autosomal dominant cerebellar ataxia (Orphanet:99)
Autosomal dominant hypocalcemia (Orphanet:428)
Autosomal dominant optic atrophy plus syndrome (Orphanet:1215)
Autosomal dominant vitreoretinochoroidopathy (Orphanet:3086)
Autosomal recessive chorioretinopathy-microcephaly (Orphanet:2518)
Autosomal recessive malignant osteopetrosis (Orphanet:667)
Axial spondylometaphyseal dysplasia (Orphanet:168549)
BRESEK syndrome (Orphanet:85284)
Bannayan-Riley-Ruvalcaba syndrome (Orphanet:109)
Behr syndrome (Orphanet:1239)
Biotinidase deficiency (Orphanet:79241)
Blau syndrome (Orphanet:90340)
Blepharonasofacial malformation syndrome (Orphanet:1252)
CEDNIK syndrome (Orphanet:66631)
CHARGE syndrome (Orphanet:138)
CINCA syndrome (Orphanet:1451)
COFS syndrome (Orphanet:1466)
Camurati-Engelmann disease (Orphanet:1328)
Canavan disease (Orphanet:141)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (Orphanet:1171)
Cerebellar ataxia - hypogonadism (Orphanet:1173)
Cerebellar hypoplasia - tapetoretinal degeneration (Orphanet:2246)
Cherubism (Orphanet:184)
Classical homocystinuria (Orphanet:394)
Cockayne syndrome (Orphanet:191)
Coffin-Lowry syndrome (Orphanet:192)
Cohen syndrome (Orphanet:193)
Congenital hypothyroidism (Orphanet:442)
Craniodiaphyseal dysplasia (Orphanet:1513)
Craniosynostosis - Dandy-Walker malformation - hydrocephalus (Orphanet:1538)
Craniotelencephalic dysplasia (Orphanet:1528)
Crouzon disease (Orphanet:207)
Crouzon syndrome - acanthosis nigricans (Orphanet:93262)
Cutis gyrata - acanthosis nigricans - craniosynostosis (Orphanet:1555)
Deafness - lymphedema - leukemia (Orphanet:3226)
Deafness - onychodystrophy (Orphanet:3231)
Diencephalic syndrome (Orphanet:1672)
Distal monosomy 13q (Orphanet:1590)
Distal monosomy 17q (Orphanet:1597)
Distal monosomy 7q36 (Orphanet:1636)
Duane retraction syndrome (Orphanet:233)
Dysosteosclerosis (Orphanet:1782)
Embryofetopathy due to oral anticoagulant therapy (Orphanet:1914)
Fabry disease (Orphanet:324)
Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation (Orphanet:1970)
Familial dysautonomia (Orphanet:1764)
Foveal hypoplasia - presenile cataract (Orphanet:2253)
Fried syndrome (Orphanet:85335)
GAPO syndrome (Orphanet:2067)
GM1 gangliosidosis (Orphanet:354)
Giant cell arteritis (Orphanet:397)
Hennekam-Beemer syndrome (Orphanet:2135)
Hermansky-Pudlak syndrome (Orphanet:79430)
Holoprosencephaly (Orphanet:2162)
Hurler-Scheie syndrome (Orphanet:93476)
Immunoglobulin A vasculitis (Orphanet:761)
Infantile Refsum disease (Orphanet:772)
Infantile axonal neuropathy (Orphanet:2679)
Infantile neuroaxonal dystrophy (Orphanet:35069)
Infantile neuronal ceroid lipofuscinosis (Orphanet:79263)
Intellectual deficit - hypoplastic corpus callosum - preauricular tag (Orphanet:1495)
Intellectual deficit - microcephaly - phalangeal - facial abnormalities (Orphanet:3067)
Intellectual deficit, X-linked - dysmorphism - cerebral atrophy (Orphanet:2958)
Intellectual deficit, X-linked, Wittwer type (Orphanet:85291)
Isolated optic nerve hypoplasia (Orphanet:137902)
Isolated oxycephaly (Orphanet:63440)
Jalili syndrome (Orphanet:1873)
Juvenile Paget disease (Orphanet:2801)
Keutel syndrome (Orphanet:85202)
Laryngeal abductor paralysis - intellectual deficit (Orphanet:2375)
Leber congenital amaurosis (Orphanet:65)
Leber hereditary optic neuropathy (Orphanet:104)
Lethal ataxia with deafness and optic atrophy (Orphanet:1187)
Malignant atrophic papulosis (Orphanet:679)
Marinesco-Sjögren syndrome (Orphanet:559)
Marshall-Smith syndrome (Orphanet:561)
McCune-Albright syndrome (Orphanet:562)
Meckel syndrome (Orphanet:564)
Megalencephaly-capillary malformation-polymicrogyria syndrome (Orphanet:60040)
Metachromatic leukodystrophy (Orphanet:512)
Micro syndrome (Orphanet:2510)
Microcephaly - intellectual deficit - phalangeal and neurological anomalies (Orphanet:137658)
Microcephaly - lymphedema - chorioretinopathy (Orphanet:2526)
Microphthalmia with limb anomalies (Orphanet:1106)
Morning glory syndrome (Orphanet:35737)
Muckle-Wells syndrome (Orphanet:575)
Mucopolysaccharidosis type 1 (Orphanet:579)
Mucopolysaccharidosis type 2 (Orphanet:580)
Mucopolysaccharidosis type 2, severe form (Orphanet:217085)
Multiple sclerosis - ichthyosis - factor VIII deficiency (Orphanet:3151)
Multiple sulfatase deficiency (Orphanet:585)
Muscle-eye-brain disease (Orphanet:588)
Neonatal adrenoleukodystrophy (Orphanet:44)
Neurodegeneration with brain iron accumulation (Orphanet:385)
Neuroectodermal melanolysosomal disease (Orphanet:33445)
Neuronal ceroid lipofuscinosis (Orphanet:216)
Neuronal intranuclear inclusion disease (Orphanet:2289)
Non-rhizomelic chondrodysplasia punctata (Orphanet:176)
Norrie disease (Orphanet:649)
Oculo-palato-cerebral syndrome (Orphanet:2714)
Oculo-reno-cerebellar syndrome (Orphanet:2715)
Oculocerebral dysplasia (Orphanet:2705)
Oculocerebrofacial syndrome, Kaufman type (Orphanet:2707)
Oculocutaneous albinism type 1A (Orphanet:79431)
Oculocutaneous albinism type 1B (Orphanet:79434)
Oculocutaneous albinism type 2 (Orphanet:79432)
Oculocutaneous albinism type 4 (Orphanet:79435)
Oculodentodigital dysplasia (Orphanet:2710)
Olivopontocerebellar atrophy - deafness (Orphanet:2732)
Osteogenesis imperfecta - retinopathy - seizures - intellectual deficit (Orphanet:2773)
Osteopetrosis with renal tubular acidosis (Orphanet:2785)
Osteoporosis - macrocephaly - blindness - joint hyperlaxity (Orphanet:2787)
Osteoporosis - pseudoglioma (Orphanet:2788)
Osteosclerosis - developmental delay - craniosynostosis (Orphanet:178377)
PAGOD syndrome (Orphanet:991)
PEHO syndrome (Orphanet:2836)
PHACE syndrome (Orphanet:42775)
PTEN hamartoma tumor syndrome (Orphanet:306498)
Pelizaeus-Merzbacher disease (Orphanet:702)
Peroxisomal acyl-CoA oxidase deficiency (Orphanet:2971)
Peters-plus syndrome (Orphanet:709)
Preaxial polydactyly - colobomata - intellectual deficit (Orphanet:2921)
Pseudoprogeria syndrome (Orphanet:2985)
Renal coloboma syndrome (Orphanet:1475)
Retinal degeneration - nanophthalmos - glaucoma (Orphanet:1574)
Retinitis pigmentosa (Orphanet:791)
Retinohepatoendocrinologic syndrome (Orphanet:3087)
Riboflavin transporter deficiency (Orphanet:97229)
Saethre-Chotzen syndrome (Orphanet:794)
Schinzel-Giedion syndrome (Orphanet:798)
Sclerosteosis (Orphanet:3152)
Septo-optic dysplasia (Orphanet:3157)
Severe Canavan disease (Orphanet:314911)
Severe X-linked intellectual deficit, Gustavson type (Orphanet:3078)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Spastic ataxia - corneal dystrophy (Orphanet:2572)
Spastic paraplegia type 2 (Orphanet:99015)
Spinocerebellar ataxia - dysmorphism (Orphanet:1185)
Sturge-Weber syndrome (Orphanet:3205)
Tay-Sachs disease (Orphanet:845)
Tel Hashomer camptodactyly syndrome (Orphanet:3292)
Tetraamelia - multiple malformations (Orphanet:3301)
Triple A syndrome (Orphanet:869)
Trisomy 13 (Orphanet:3378)
Tuberous sclerosis (Orphanet:805)
Uveal coloboma - cleft lip and palate - intellectual deficit (Orphanet:1473)
VACTERL with hydrocephalus (Orphanet:3412)
Van Regemorter-Pierquin-Vamos syndrome (Orphanet:3419)
Vici syndrome (Orphanet:1493)
Vitamin B12-unresponsive methylmalonic acidemia (Orphanet:27)
Vitamin B12-unresponsive methylmalonic acidemia type mut- (Orphanet:79312)
Vitamin B12-unresponsive methylmalonic acidemia type mut0 (Orphanet:289916)
Walker-Warburg syndrome (Orphanet:899)
Wildervanck syndrome (Orphanet:3456)
Wolf-Hirschhorn syndrome (Orphanet:280)
Wrinkly skin syndrome (Orphanet:2834)
X-linked Charcot-Marie-Tooth disease type 5 (Orphanet:99014)
X-linked dominant chondrodysplasia punctata (Orphanet:35173)
X-linked intellectual deficit, Najm type (Orphanet:163937)
X-linked spinocerebellar ataxia type 3 (Orphanet:85297)
Xeroderma pigmentosum (Orphanet:910)
Xeroderma pigmentosum/Cockayne syndrome complex (Orphanet:220295)
Zellweger syndrome (Orphanet:912)