Coloboma
Symptom Information:
Symptom ID: | HPO:0000589 | |||||||||||||||||
Synonyms: |
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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) 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) |
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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) |