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:
expandAortic Diseases (D001018)
Parent Node:
expandCalcinosis (D002114)
..Starting node
..expandCalcific Aortic Disease with Immunologic Abnormalities, Familial (C566182)

       Child Nodes:



 Sister Nodes: 
..expandAortic Valve, Calcification of (C562942) Child1
..expandBAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA (OMIM:251290)
..expandBaraitser Brett Piesowicz syndrome (C537905)
..expandBasal ganglia calcification, idiopathic 2 (C537657)
..expandBerry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification (C565905)
..expandCalcific Aortic Disease with Immunologic Abnormalities, Familial (C566182)
..expandCalcification of Joints and Arteries (C565891)
..expandCalciphylaxis (D002115)
..expandCardiomyopathy, fatal fetal, due to myocardial calcification (C543241)
..expandCerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..expandChoroid plexus calcification with mental retardation (C535357)
..expandCoronary Sclerosis, Medial, of Infancy (C565944)
..expandCraniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism (C564241)
..expandCREST Syndrome (D017675)
..expandDiabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification (C565632)
..expandEncephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration (C565594)
..expandEpilepsy occipital calcifications (C535496)
..expandFacial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification (C567039)
..expandGREENBERG DYSPLASIA (OMIM:215140)
..expandHEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS (OMIM:613730)
..expandHypophosphatemia, Renal, with Intracerebral Calcifications (C565478)
..expandIdiopathic basal ganglia calcification 1 (C536275)
..expandIdiopathic basal ganglia calcification, childhood onset (C536276)
..expandKeutel syndrome (C536167)
..expandNephrocalcinosis (D009397) Child6
..expandOssified Ear Cartilages (C563488)
..expandOsteomalacia, Sclerosing, with Cerebral Calcification (C564916)
..expandPiepkorn Karp Hickok syndrome (C535774)
..expandPrimrose syndrome (C536420)
..expandPulmonary Alveolar Microlithiasis (C562405)
..expandRAJAB SYNDROME (OMIM:613658)
..expandRambaud Galian syndrome (C535283)
..expandSchofer Beetz Bohl syndrome (C535949)
..expandSpondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness (C566507)
..expandStorm Syndrome (C566109)
..expandTropical Calcific Pancreatitis (C564276)
..expandTumoral Calcinosis, Hyperphosphatemic, Familial (C566870)
..expandTumoral Calcinosis, Normophosphatemic, Familial (C566473)
..expandVascular Calcification (D061205) Child3
..expandWhyte Murphy Fallon Sly syndrome (C536060)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:1567
Name:Calcific Aortic Disease with Immunologic Abnormalities, Familial
Definition:
Alternative IDs:
ParentIDs:MESH:D001018|MESH:D002114
TreeNumbers:C14.907.109/C566182 |C18.452.174.130/C566182
Synonyms:
Slim Mappings:Cardiovascular disease|Metabolic disease
Reference: MedGen: C566182
MeSH: C566182
OMIM: 114065;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001659Aortic regurgitation
3 HP:0004380Aortic valve calcification
4 HP:0001650Aortic valve stenosis
5 HP:0010702Increased circulating antibody level
Disease Causing ClinVar Variants