Ocular albinism

Symptom Information:

Symptom ID: HPO:0001107
Synonyms:
Albinism, Ocular [HPO:0001107]
Ocular albinism (disorder) [Orphanet:4240]
Albinism, Ocular [Orphanet:4240]
Ocular albinism [OMIM:Ocular albinism]
Iris albinism/ocular albinism [Orphanet:4240]
Ocular albinism [Orphanet:4240]
Ocular albinism [MedDRA:10065276]
Ocular albinism (reported in 1 patient) [OMIM:Ocular albinism (reported in 1 patient)]
Quality:
Cross references:
Orphanet:4240 "Iris albinism/ocular albinism" [Orphanet:4240]
OMIM: "Ocular albinism" [OMIM:Ocular albinism]
OMIM: "Ocular albinism (reported in 1 patient)" [OMIM:Ocular albinism (reported in 1 patient)]
UMLS:C0078917 "Albinism, Ocular" [Orphanet:4240]
Is a (Direct Parents):
HPO         Abnormality of the fundus
Orphanet Abnormality of the eye
HPO         Iris hypopigmentation
MedDRA Ocular disorders congenital NEC
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)
                Abnormality of the anterior segment of the globe(HPO:0004328)
                   Abnormality of the iris(HPO:0000525)
                      Abnormal iris pigmentation(HPO:0008034)
                         Iris hypopigmentation(HPO:0007730)
                            Ocular albinism(HPO:0001107)
                Abnormality of the posterior segment of the globe(HPO:0004329)
                   Abnormality of the fundus(HPO:0001098)
                      Ocular albinism(HPO:0001107)
                Abnormality of the uvea(HPO:0000553)
                   Abnormality of the iris(HPO:0000525)
                      Abnormal iris pigmentation(HPO:0008034)
                         Iris hypopigmentation(HPO:0007730)
                            Ocular albinism(HPO:0001107)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Eye disorders congenital(MedDRA:10015920)
       Ocular disorders congenital NEC(MedDRA:10027673)
          Ocular albinism(HPO:0001107)
Database Frequency: 40 / 7739
Resource:

All diseases associated with this symptom:

1p36 deletion syndrome (Orphanet:1606)
Aniridia (Orphanet:77)
Atrioventricular defect - blepharophimosis -radial defects (Orphanet:1352)
Attenuated Chédiak-Higashi syndrome (Orphanet:352723)
Autosomal recessive cerebelloparenchymal disorder type 3 (Orphanet:1170)
Chédiak-Higashi syndrome (Orphanet:167)
Deaf blind hypopigmentation syndrome, Yemenite type (Orphanet:3214)
Ermine phenotype (Orphanet:999)
Free sialic acid storage disease (Orphanet:834)
Griscelli disease (Orphanet:381)
Griscelli disease type 1 (Orphanet:79476)
Griscelli disease type 2 (Orphanet:79477)
Griscelli disease type 3 (Orphanet:79478)
HERMANSKY-PUDLAK SYNDROME 1 (OMIM:203300)
HERMANSKY-PUDLAK SYNDROME 4 (OMIM:614073)
HERMANSKY-PUDLAK SYNDROME 5 (OMIM:614074)
HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
Hermansky-Pudlak syndrome (Orphanet:79430)
Hermansky-Pudlak syndrome type 7 (Orphanet:231531)
Hermansky-Pudlak syndrome type 8 (Orphanet:231537)
Hermansky-Pudlak syndrome with neutropenia (Orphanet:183678)
Hermansky-Pudlak syndrome with pulmonary fibrosis (Orphanet:231500)
Microcephaly-albinism-digital anomalies (Orphanet:2513)
Neuronal ceroid lipofuscinosis (Orphanet:216)
Ocular albinism (Orphanet:284804)
Ocular albinism with congenital sensorineural deafness (Orphanet:352740)
Ocular albinism with late-onset sensorineural deafness (Orphanet:1000)
Oculocerebral hypopigmentation syndrome, Cross type (Orphanet:2719)
Oculocerebral hypopigmentation syndrome, Preus type (Orphanet:2720)
Oculocutaneous albinism (Orphanet:55)
Oculocutaneous albinism type 1 (Orphanet:352731)
Oculocutaneous albinism type 1A (Orphanet:79431)
Oculocutaneous albinism type 1B (Orphanet:79434)
Oculocutaneous albinism type 2 (Orphanet:79432)
Oculocutaneous albinism type 3 (Orphanet:79433)
Oculocutaneous albinism type 4 (Orphanet:79435)
Osteoporosis - oculocutaneous hypopigmentation syndrome (Orphanet:2786)
Vici syndrome (Orphanet:1493)
WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
X-linked recessive ocular albinism (Orphanet:54)