Amblyopia

Symptom Information:

Symptom ID: HPO:0000646
Synonyms:
Amblyopia (disorder) [Orphanet:5450]
Amblyopia [Orphanet:5450]
Amblyopia [OMIM:Amblyopia]
Visual loss/blindness/amblyopia [Orphanet:5450]
Amblyopia [MedDRA:10001906]
Amblyopia ex anopsia [MedDRA:10001906]
Amblyopia NOS [MedDRA:10001906]
Amblyopia suppression [MedDRA:10001906]
Amblyopia, unspecified [MedDRA:10001906]
Deprivation amblyopia [MedDRA:10001906]
Suppression amblyopia [MedDRA:10001906]
Lazy eye [MedDRA:10001906]
Amblyopia bilateral [MedDRA:10001906]
Amblyopia unilateral [MedDRA:10001906]
Amblyopia (1 patient) [OMIM:Amblyopia (1 patient)]
Amblyopia (reported in 1 family) [OMIM:Amblyopia (reported in 1 family)]
Quality:
Cross references:
Orphanet:5450 "Visual loss/blindness/amblyopia" [Orphanet:5450]
OMIM: "Amblyopia" [OMIM:Amblyopia]
OMIM: "Amblyopia (1 patient)" [OMIM:Amblyopia (1 patient)]
OMIM: "Amblyopia (reported in 1 family)" [OMIM:Amblyopia (reported in 1 family)]
UMLS:C0002418 "Amblyopia" [HPO:0000646]
UMLS:C0002418 "Amblyopia" [Orphanet:5450]
Is a (Direct Parents):
Orphanet Abnormality of the eye
MedDRA Amblyopic vision impairment
HPO         Visual impairment
Orphanet Visual loss
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the eye(HPO:0000478)
          Abnormal eye physiology(HPO:0012373)
             Abnormality of vision(HPO:0000504)
                Visual impairment(HPO:0000505)
                   Amblyopia(HPO:0000646)
MedDRA:
Eye disorders(MedDRA:10015919)
    Vision disorders(MedDRA:10047518)
       Amblyopic vision impairment(MedDRA:10001910)
          Amblyopia(HPO:0000646)
Database Frequency: 42 / 7739
Resource:

All diseases associated with this symptom:

22q11.2 deletion syndrome (Orphanet:567)
Alpha-mannosidosis (Orphanet:61)
Alström syndrome (Orphanet:64)
Bannayan-Riley-Ruvalcaba syndrome (Orphanet:109)
Bencze syndrome (Orphanet:1241)
Buschke-Ollendorff syndrome (Orphanet:1306)
CATARACT 2, MULTIPLE TYPES (OMIM:604307)
CATARACT 9, MULTIPLE TYPES (OMIM:604219)
COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:614306)
CRANIOSYNOSTOSIS WITH OCULAR ABNORMALITIES AND HALLUCAL DEFECTS (OMIM:608279)
Cerebroretinal vasculopathy (Orphanet:3421)
Cushing disease (Orphanet:96253)
DIGEORGE SYNDROME (OMIM:188400)
DUANE RETRACTION SYNDROME 2 (OMIM:604356)
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2 (OMIM:602078)
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULARINVOLVEMENT (OMIM:600638)
Familial vascular leukoencephalopathy (Orphanet:36383)
HERNS syndrome (Orphanet:63261)
Hereditary vascular retinopathy (Orphanet:71291)
Hermansky-Pudlak syndrome (Orphanet:79430)
Hermansky-Pudlak syndrome with pulmonary fibrosis (Orphanet:231500)
Jacobsen syndrome (Orphanet:2308)
LCAT deficiency (Orphanet:650)
Larsen-like syndrome, B3GAT3 type (Orphanet:284139)
MENTAL AND GROWTH RETARDATION WITH AMBLYOPIA (OMIM:156190)
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS (OMIM:613671)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 33 (OMIM:616311)
Maternally-inherited diabetes and deafness (Orphanet:225)
Microcephaly-cardiomyopathy syndrome (Orphanet:2515)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Multiple congenital anomalies - hypotonia - seizures syndrome (Orphanet:280633)
NYSTAGMUS 6, CONGENITAL, X-LINKED (OMIM:300814)
Noonan syndrome (Orphanet:648)
OPHTHALMOPLEGIA TOTALIS WITH PTOSIS AND MIOSIS (OMIM:258400)
PORETTI-BOLTSHAUSER SYNDROME (OMIM:615960)
Senior-Loken syndrome 4 (OMIM:606996)
Spondylo-ocular syndrome (Orphanet:85194)
Thiamine-responsive megaloblastic anemia syndrome (Orphanet:49827)
Tyrosinemia type 2 (Orphanet:28378)
Williams syndrome (Orphanet:904)
Wolfram syndrome 1 (OMIM:222300)
X-linked cone dysfunction syndrome with myopia (Orphanet:90001)