Macular hypoplasia

Symptom Information:

Symptom ID: HPO:0001104
Synonyms:
Macular aplasia [Orphanet:5360]
Macular hypoplasia [OMIM:Macular hypoplasia]
Macular dystrophy/absence/hypoplasia of the macula [Orphanet:5360]
Macular hypoplasia (rare) [OMIM:Macular hypoplasia (rare)]
Quality:
Cross references:
Orphanet:5360 "Macular dystrophy/absence/hypoplasia of the macula" [Orphanet:5360]
OMIM: "Macular hypoplasia" [OMIM:Macular hypoplasia]
OMIM: "Macular hypoplasia (rare)" [OMIM:Macular hypoplasia (rare)]
Is a (Direct Parents):
Orphanet Macular degeneration
Orphanet Retinopathy
HPO         Aplasia/Hypoplasia of the macula
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the eye(HPO:0000478)
          Abnormal eye morphology(HPO:0012372)
             Abnormality of the globe(HPO:0012374)
                Aplasia/Hypoplasia affecting the eye(HPO:0008056)
                   Aplasia/Hypoplasia affecting the fundus(HPO:0008057)
                      Aplasia/Hypoplasia of the retina(HPO:0008061)
                         Aplasia/Hypoplasia of the macula(HPO:0008059)
                            Macular hypoplasia(HPO:0001104)
                Abnormality of the posterior segment of the globe(HPO:0004329)
                   Abnormality of the fundus(HPO:0001098)
                      Aplasia/Hypoplasia affecting the fundus(HPO:0008057)
                         Aplasia/Hypoplasia of the retina(HPO:0008061)
                            Aplasia/Hypoplasia of the macula(HPO:0008059)
                               Macular hypoplasia(HPO:0001104)
                      Abnormality of the retina(HPO:0000479)
                         Aplasia/Hypoplasia of the retina(HPO:0008061)
                            Aplasia/Hypoplasia of the macula(HPO:0008059)
                               Macular hypoplasia(HPO:0001104)
                         Abnormality of the macula(HPO:0001103)
                            Aplasia/Hypoplasia of the macula(HPO:0008059)
                               Macular hypoplasia(HPO:0001104)
MedDRA:
Database Frequency: 9 / 7739
Resource:

All diseases associated with this symptom:

CATARACT 21, MULTIPLE TYPES (OMIM:610202)
Chédiak-Higashi syndrome (Orphanet:167)
Distal monosomy 3p (Orphanet:1620)
Jacobsen syndrome (Orphanet:2308)
Knobloch syndrome (Orphanet:1571)
MELAS (Orphanet:550)
Maternally-inherited diabetes and deafness (Orphanet:225)
Oculoauricular syndrome, Schorderet type (Orphanet:157962)
Oculocutaneous albinism type 4 (Orphanet:79435)