Hearing Loss Disease Portal


 
Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expand
Cardiomyopathies (D009202)
Parent Node:
expand
Immunologic Deficiency Syndromes (D007153)
Parent Node:
expand
Mental Retardation, X-Linked (D038901)
Parent Node:
expand
Osteochondrodysplasias (D010009)
Parent Node:
expand
Retinal Diseases (D012164)
..Starting node
..expand
Roifman syndrome (C535866)

       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:9895
Name:Roifman syndrome
Definition:
Alternative IDs:OMIM:300258
ParentIDs:MESH:D007153|MESH:D009202|MESH:D010009|MESH:D012164|MESH:D038901
TreeNumbers:C05.116.099.708/C535866 |C10.597.606.643.455/C535866 |C11.768/C535866 |C14.280.238/C535866 |C16.320.322.500/C535866 |C16.320.400.525/C535866 |C20.673/C535866
Synonyms:Spondyloepiphseal dysplasia, retinal dystrophy, and antibody deficiency |SPONDYLOEPIPHYSEAL DYSPLASIA, RETINAL DYSTROPHY, AND ANTIBODY DEFICIENCY
Slim Mappings:Cardiovascular disease|Eye disease|Genetic disease (inborn)|Immune system disease|Musculoskeletal disease|Nervous system disease
Reference: MedGen: C535866
MeSH: C535866
OMIM: 300258;

Genes:
Phenotypes
Disease Causing ClinVar Variants