Coloboma

Symptom Information:

Symptom ID: HPO:0000589
Synonyms:
Ocular coloboma [HPO:0000589]
Ocular colobomas [HPO:0000589]
Colobomas [HPO:0000589]
Coloboma [OMIM:Coloboma]
Ocular coloboma [OMIM:Ocular coloboma]
Ocular colobomas [OMIM:Ocular colobomas]
Coloboma (1 patient) [OMIM:Coloboma (1 patient)]
Coloboma (WWS) [OMIM:Coloboma (WWS)]
Coloboma (in some patients with larger microdeletion) [OMIM:Coloboma (in some patients with larger microdeletion)]
Coloboma (in some patients) [OMIM:Coloboma (in some patients)]
Coloboma (iris and retina) [OMIM:Coloboma (iris and retina)]
Coloboma (iris or optic nerve) [OMIM:Coloboma (iris or optic nerve)]
Coloboma (iris, optic nerve) [OMIM:Coloboma (iris, optic nerve)]
Colobomas (iris, choroid, retina, disc, and optic nerve) [OMIM:Colobomas (iris, choroid, retina, disc, and optic nerve)]
Colobomata [OMIM:Colobomata]
Ocular colobomas (rare) [OMIM:Ocular colobomas (rare)]
Coloboma [MedDRA:10009934]
Quality:
Cross references:
OMIM: "Coloboma" [OMIM:Coloboma]
OMIM: "Ocular coloboma" [OMIM:Ocular coloboma]
OMIM: "Ocular colobomas" [OMIM:Ocular colobomas]
OMIM: "Coloboma (1 patient)" [OMIM:Coloboma (1 patient)]
OMIM: "Coloboma (WWS)" [OMIM:Coloboma (WWS)]
OMIM: "Coloboma (in some patients with larger microdeletion)" [OMIM:Coloboma (in some patients with larger microdeletion)]
OMIM: "Coloboma (in some patients)" [OMIM:Coloboma (in some patients)]
OMIM: "Coloboma (iris and retina)" [OMIM:Coloboma (iris and retina)]
OMIM: "Coloboma (iris or optic nerve)" [OMIM:Coloboma (iris or optic nerve)]
OMIM: "Coloboma (iris, optic nerve)" [OMIM:Coloboma (iris, optic nerve)]
OMIM: "Colobomas (iris, choroid, retina, disc, and optic nerve)" [OMIM:Colobomas (iris, choroid, retina, disc, and optic nerve)]
OMIM: "Colobomata" [OMIM:Colobomata]
OMIM: "Ocular colobomas (rare)" [OMIM:Ocular colobomas (rare)]
UMLS:C0009363 "Colobomas" [HPO:0000589]
Is a (Direct Parents):
MedDRA Ocular disorders congenital NEC
HPO         Ciliary body coloboma
HPO         Abnormal eye morphology
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the eye(HPO:0000478)
          Abnormal eye morphology(HPO:0012372)
             Coloboma(HPO:0000589)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Eye disorders congenital(MedDRA:10015920)
       Ocular disorders congenital NEC(MedDRA:10027673)
          Coloboma(HPO:0000589)
Database Frequency: 47 / 7739
Resource:

All diseases associated with this symptom:

3C syndrome (Orphanet:7)
ALG2-CDG (Orphanet:79326)
Abruzzo-Erickson syndrome (Orphanet:921)
Acrocallosal syndrome (Orphanet:36)
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia (Orphanet:52055)
Anophthalmia/microphthalmia - esophageal atresia (Orphanet:77298)
BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
BRACHIAL AMELIA, CLEFT LIP, AND HOLOPROSENCEPHALY (OMIM:601357)
CHARGE syndrome (Orphanet:138)
COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE (OMIM:216820)
CREE MENTAL RETARDATION SYNDROME (OMIM:606851)
Coloboma of macula - brachydactyly type B (Orphanet:1471)
Curry-Jones syndrome (Orphanet:1553)
Diabetic embryopathy (Orphanet:1926)
Dihydropyrimidine dehydrogenase deficiency (Orphanet:1675)
Frontonasal dysplasia (Orphanet:250)
HOLOPROSENCEPHALY 2 (OMIM:157170)
Joubert syndrome 14 (OMIM:614424)
Joubert syndrome 16 (OMIM:614465)
Joubert syndrome 22 (OMIM:615665)
Joubert syndrome 28 (OMIM:617121)
Joubert syndrome with hepatic defect (Orphanet:1454)
Kapur-Toriello syndrome (Orphanet:2328)
Linear nevus sebaceus syndrome (Orphanet:2612)
MICROPHTHALMIA, ISOLATED 4 (OMIM:613094)
MICROPHTHALMIA, ISOLATED 8 (OMIM:615113)
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3 (OMIM:610092)
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 (OMIM:613703)
MICROPHTHALMIA, SYNDROMIC 13 (OMIM:300915)
MICROPHTHALMIA, SYNDROMIC 14 (OMIM:615877)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 1 (OMIM:236670)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12 (OMIM:615249)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3 (OMIM:253280)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 5 (OMIM:613153)
Microphthalmia with brain and digit anomalies (Orphanet:139471)
Muscle-eye-brain disease (Orphanet:588)
Oculoauricular syndrome, Schorderet type (Orphanet:157962)
Oculootodental syndrome (Orphanet:99806)
Otodental syndrome (Orphanet:2791)
Renpenning syndrome (Orphanet:3242)
Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet:353277)
SRD5A3-CDG (Orphanet:324737)
STEVENSON-CAREY SYNDROME (OMIM:611961)
Solitary median maxillary central incisor syndrome (Orphanet:2286)
Syndromic microphthalmia type 5 (Orphanet:178364)
Tessier number 4 facial cleft (Orphanet:141258)
VERHEIJ SYNDROME (OMIM:615583)