Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
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Adrenal Insufficiency (D000309)
Parent Node:
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Genetic Diseases, Inborn (D030342)
..Starting node
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Adrenocortical Hypofunction, Chronic Primary Congenital (C562711)

       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:331
Name:Adrenocortical Hypofunction, Chronic Primary Congenital
Definition:
Alternative IDs:
ParentIDs:MESH:D000309|MESH:D030342
TreeNumbers:C16.320/C562711 |C19.053.500/C562711
Synonyms:Addison Disease, Congenital
Slim Mappings:Endocrine system disease|Genetic disease (inborn)
Reference: MedGen: C562711
MeSH: C562711
OMIM: 103230;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001939Abnormality of metabolism/homeostasis
3 HP:0000846Adrenal insufficiency
4 HP:0012605Hypernatriuria
5 HP:0000953Hyperpigmentation of the skin
Disease Causing ClinVar Variants