Optic nerve coloboma

Symptom Information:

Symptom ID: HPO:0000588
Synonyms:
Coloboma of optic nerve [HPO:0000588]
Optic disk coloboma [HPO:0000588]
Coloboma of optic disc (disorder) [Orphanet:5420]
Congenital coloboma of optic disc (disorder) [Orphanet:5420]
Coloboma of optic disc [Orphanet:5420]
Coloboma of optic nerve [OMIM:Coloboma of optic nerve]
Optic nerve coloboma [OMIM:Optic nerve coloboma]
Coloboma of the optic nerve [Orphanet:5420]
Quality:
Cross references:
Orphanet:5420 "Coloboma of the optic nerve" [Orphanet:5420]
OMIM: "Coloboma of optic nerve" [OMIM:Coloboma of optic nerve]
OMIM: "Optic nerve coloboma" [OMIM:Optic nerve coloboma]
UMLS:C0155299 "Coloboma of optic disc" [Orphanet:5420]
Is a (Direct Parents):
Orphanet Optic atrophy
HPO         Coloboma
HPO         Abnormality of the optic nerve
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)
                Optic nerve coloboma(HPO:0000588)
             Abnormality of the globe(HPO:0012374)
                Abnormality of the posterior segment of the globe(HPO:0004329)
                   Abnormality of the fundus(HPO:0001098)
                      Abnormality of the optic nerve(HPO:0000587)
                         Optic nerve coloboma(HPO:0000588)
MedDRA:
Database Frequency: 27 / 7739
Resource:

All diseases associated with this symptom:

1p36 deletion syndrome (Orphanet:1606)
2q31.1 microdeletion syndrome (Orphanet:251014)
Acro-renal-ocular syndrome (Orphanet:959)
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia (Orphanet:52055)
Aicardi syndrome (Orphanet:50)
Aniridia (Orphanet:77)
Baraitser-Winter syndrome (Orphanet:2995)
CHARGE syndrome (Orphanet:138)
Congenital sodium diarrhea (Orphanet:103908)
Cornelia de Lange syndrome (Orphanet:199)
Curry-Jones syndrome (Orphanet:1553)
Distal 22q11.2 microduplication syndrome (Orphanet:261337)
Gorlin syndrome (Orphanet:377)
Hallermann-Streiff syndrome (Orphanet:2108)
Hypomandibular faciocranial dysostosis (Orphanet:1790)
Joubert syndrome (Orphanet:475)
Joubert syndrome 1 (OMIM:213300)
Joubert syndrome 2 (OMIM:608091)
Joubert syndrome 5 (OMIM:610188)
Joubert syndrome with hepatic defect (Orphanet:1454)
MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Microphthalmia, Lenz type (Orphanet:568)
Morning glory syndrome (Orphanet:35737)
Pelvis-shoulder dysplasia (Orphanet:2839)
Proximal 16p11.2 microdeletion syndrome (Orphanet:261197)
Renal coloboma syndrome (Orphanet:1475)
Warsaw breakage syndrome (Orphanet:280558)