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
Genetic Diseases, Inborn (D030342)
..Starting node
..expand
Parotidomegaly, Hereditary Bilateral (C566821)

       Child Nodes:



 Sister Nodes: 
..expandACTH Deficiency, Isolated (C562707)
..expandAdrenal Hyperplasia, Congenital (D000312) Child12
..expandAdrenocortical Hypofunction, Chronic Primary Congenital (C562711)
..expandAlagille Syndrome (D016738)
..expandalpha 1-Antitrypsin Deficiency (D019896) Child1
..expandAlpha-2-Deficient Collagen Disease (C565963)
..expandAnemia, Hemolytic, Congenital (D000745) Child68
..expandAnemia, Hypoplastic, Congenital (D029502) Child27
..expandAngioedemas, Hereditary (D054179) Child2
..expandAtaxia Telangiectasia (D001260) Child6
..expandAtrial Standstill (C563984)
..expandAutoimmune Lymphoproliferative Syndrome (D056735) Child5
..expandBlood Coagulation Disorders, Inherited (D025861) Child70
..expandBrugada Syndrome (D053840) Child9
..expandCADASIL (D046589) Child1
..expandCamurati-Engelmann Syndrome (D003966) Child4
..expandCardiomyopathy, Hypertrophic, Familial (D024741) Child15
..expandCerebral Palsy, Ataxic, Autosomal Recessive (C562856)
..expandCHARGE Syndrome (D058747)
..expandCherubism (D002636) Child2
..expandChromosome Disorders (D025063) Child160
..expandCirrhosis, Familial (C566123)
..expandComplement Factor I Deficiency (C572568)
..expandCorticosteroid-Binding Globulin Deficiency (C565152)
..expandCostello Syndrome (D056685)
..expandCryoglobulinemia, Familial Mixed (C565141)
..expandCystic Fibrosis (D003550) Child4
..expandDonohue Syndrome (D056731) Child1
..expandDwarfism (D004392) Child155
..expandEpistaxis, Hereditary (C562751)
..expandEye Diseases, Hereditary (D015785) Child373
..expandFrasier Syndrome (D052159)
..expandGenetic Diseases, X-Linked (D040181) Child412
..expandGenetic Diseases, Y-Linked (D050174) Child5
..expandHajdu-Cheney Syndrome (D031845) Child1
..expandHemoglobinopathies (D006453) Child23
..expandHepatic Fibrosis, Congenital (C562378)
..expandHereditary Autoinflammatory Diseases (D056660) Child10
..expandHereditary Myopathy with Early Respiratory Failure (C566343)
..expandHeredodegenerative Disorders, Nervous System (D020271) Child543
..expandHistiocytosis, Familial Lipochrome (C562738)
..expandHyper-IgM Immunodeficiency Syndrome (D053306) Child3
..expandHyperthyroxinemia, Familial Dysalbuminemic (D050010) Child1
..expandInterstitial Pneumonitis, Desquamative, Familial (C562470)
..expandKallmann Syndrome (D017436) Child9
..expandKartagener Syndrome (D007619) Child6
..expandLennox Gastaut Syndrome (D065768) Child1
..expandLoeys-Dietz Syndrome (D055947) Child5
..expandMarfan Syndrome (D008382) Child9
..expandMetabolism, Inborn Errors (D008661) Child886
..expandMuscular Dystrophies (D009136) Child117
..expandMyasthenic Syndromes, Congenital (D020294) Child15
..expandNail-Patella Syndrome (D009261) Child1
..expandNeoplastic Syndromes, Hereditary (D009386) Child111
..expandNeutropenia, Nonimmune Chronic Idiopathic, Adult (C564320)
..expandOsteoarthropathy, Primary Hypertrophic (D010004) Child2
..expandOsteogenesis Imperfecta (D010013) Child27
..expandPain Insensitivity, Congenital (D000699) Child2
..expandParotidomegaly, Hereditary Bilateral (C566821)
..expandPelger-Huet Anomaly (D010381)
..expandPlatelet Glycoprotein IV Deficiency (C564245)
..expandPolycystic Kidney, Autosomal Recessive (D017044) Child3
..expandProlactin Deficiency, Isolated (C562708)
..expandPulmonary Alveolar Microlithiasis (C562405)
..expandPycnodysostosis (D058631)
..expandRh Deficiency Syndrome (C562717)
..expandSkin Diseases, Genetic (D012873) Child462
..expandWeill-Marchesani Syndrome (D056846)
..expandWerner Syndrome (D014898) Child1
..expandYellow Nail Syndrome (D056684) Child1
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:8681
Name:Parotidomegaly, Hereditary Bilateral
Definition:
Alternative IDs:
ParentIDs:MESH:D030342
TreeNumbers:C16.320/C566821
Synonyms:
Slim Mappings:Genetic disease (inborn)
Reference: MedGen: C566821
MeSH: C566821
OMIM: 168800;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000464Abnormality of the neck
Disease Causing ClinVar Variants