Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
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Eye Diseases (D005128)
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Retinal Diseases (D012164)
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Exudative Vitreoretinopathy 4 (C566619)

       Child Nodes:



 Sister Nodes: 
..expandAl Gazali Sabrinathan Nair syndrome (C535617)
..expandAngioid Streaks (D000793)
..expandAusems Wittebol-Post Hennekam syndrome (C538272)
..expandBestrophinopathy (C567518)
..expandBESTROPHINOPATHY, AUTOSOMAL RECESSIVE (OMIM:611809)
..expandBietti Crystalline Dystrophy (C535440)
..expandBothnia Retinal Dystrophy (C564392)
..expandCentral Serous Chorioretinopathy (D056833)
..expandCerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..expandDiabetic Retinopathy (D003930) Child1
..expandEpiretinal Membrane (D019773)
..expandExudative Vitreoretinopathy 4 (C566619)
..expandExudative Vitreoretinopathy 5 (C567648)
..expandFamilial Exudative Vitreoretinopathy (C580083)
..expandFleck Retina, Familial Benign (C565564)
..expandFLOTCH syndrome (C537065)
..expandFundus Albipunctatus (C562733)
..expandGrouped Pigmentation of the Macula (C565530)
..expandHypertensive Retinopathy (D058437)
..expandIris hypoplasia and glaucoma (C535538)
..expandLeber Congenital Amaurosis (D057130) Child20
..expandMicrocephaly with Chorioretinopathy, Autosomal Dominant (C563583)
..expandMicrocephaly with Chorioretinopathy, Autosomal Recessive (C565379)
..expandMICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
..expandOculomelic amyoplasia (C537737)
..expandRambaud Galian syndrome (C535283)
..expandRamos Arroyo Clark syndrome (C535286)
..expandRetinal Aplasia (C566720)
..expandRetinal Artery Occlusion (D015356) Child1
..expandRetinal Degeneration (D012162) Child195
..expandRetinal Detachment (D012163) Child9
..expandRetinal Dysplasia (D015792) Child2
..expandRETINAL DYSPLASIA, PRIMARY (OMIM:312550)
..expandRetinal Hemorrhage (D012166) Child2
..expandRetinal Neoplasms (D019572) Child3
..expandRetinal Neovascularization (D015861)
..expandRetinal Nonattachment, Nonsyndromic Congenital (C565633)
..expandRetinal Perforations (D012167)
..expandRetinal Telangiectasis (D058456) Child1
..expandRetinal Vasculitis (D031300) Child1
..expandRetinal Vein Occlusion (D012170)
..expandRetinitis (D012173) Child4
..expandRetinopathy of Prematurity (D012178)
..expandRoifman syndrome (C535866)
..expandStickler Syndrome, Autosomal Recessive, COL9A1-Related (C565177)
..expandVasculopathy, Retinal, With Cerebral Leukodystrophy (C566007)
..expandVitreoretinopathy with Phalangeal Epiphyseal Dysplasia (C565179)
..expandVitreoretinopathy, Proliferative (D018630) Child5
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:4042
Name:Exudative Vitreoretinopathy 4
Definition:
Alternative IDs:OMIM:601813
ParentIDs:MESH:D005128|MESH:D012164
TreeNumbers:C11.768/C566619 |C11/C566619
Synonyms:Evr4
Slim Mappings:Eye disease
Reference: MedGen: C566619
MeSH: C566619
OMIM: 601813;

Genes: LRP5;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000007Autosomal recessive inheritance
3 HP:0003593Infantile onset
4 HP:0000618Blindness
5 HP:0030490Exudative vitreoretinopathy
6 HP:0001493Falciform retinal fold
7 HP:0007811Horizontal pendular nystagmus
8 HP:0000938Osteopenia
9 HP:0007685Peripheral retinal avascularization
10 HP:0001489Posterior vitreous detachment
11 HP:0007663Reduced visual acuity
12 HP:0001147Retinal exudate
13 HP:0000523Subcapsular cataract
14 HP:0007917Tractional retinal detachment
15 HP:0007902Vitreous hemorrhage
Disease Causing ClinVar Variants