Macular coloboma

Symptom Information:

Symptom ID: HPO:0001116
Synonyms:
Hereditary macular coloboma [Orphanet:5240]
Macular coloboma [OMIM:Macular coloboma]
Macular coloboma [Orphanet:5240]
Quality:
Cross references:
HPO:0011511 "Macular schisis" [Orphanet:5240]
Orphanet:5240 "Macular coloboma" [Orphanet:5240]
OMIM: "Macular coloboma" [OMIM:Macular coloboma]
UMLS:C1852767 "Hereditary macular coloboma" [Orphanet:5240]
Is a (Direct Parents):
HPO         Abnormality of the macula
HPO         Retinal coloboma
Orphanet Abnormality of the eye
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)
                Retinal coloboma(HPO:0000480)
                   Macular coloboma(HPO:0001116)
             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 retina(HPO:0000479)
                         Retinal coloboma(HPO:0000480)
                            Macular coloboma(HPO:0001116)
                         Abnormality of the macula(HPO:0001103)
                            Macular coloboma(HPO:0001116)
MedDRA:
Database Frequency: 6 / 7739
Resource:

All diseases associated with this symptom:

AORTIC ARCH INTERRUPTION, FACIAL PALSY, AND RETINAL COLOBOMA (OMIM:107550)
COLOBOMA OF MACULA (OMIM:120300)
Cutis laxa (Orphanet:209)
Familial hypomagnesemia - hypercalciuria - nephrocalcinosis - severe ocular involvement (Orphanet:2196)
Leber congenital amaurosis 9 (OMIM:608553)
Macular coloboma - cleft palate - hallux valgus (Orphanet:91494)