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:
expandFacies (D019066)
Parent Node:
expandHeart Defects, Congenital (D006330)
Parent Node:
expandHydrocephalus (D006849)
..Starting node
..expandBeemer Ertbruggen syndrome (C537668)

       Child Nodes:



 Sister Nodes: 
..expandAase Smith syndrome (C535332)
..expandAxenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..expandBaker Vinters syndrome (C537899)
..expandBeemer Ertbruggen syndrome (C537668)
..expandBor-Duane hydrocephalus contiguous gene syndrome (C536574)
..expandClark-Baraitser syndrome (C536208)
..expandCole Carpenter syndrome (C535963)
..expandCystic Kidney Disease with Ventriculomegaly (C565657)
..expandDaentl Towsend Siegel syndrome (C535768)
..expandDaish Hardman Lamont syndrome (C535770)
..expandDandy-Walker Syndrome (D003616) Child13
..expandEdinburgh Malformation Syndrome (C563051)
..expandEnamel Hypoplasia, Cataracts, and Aqueductal Stenosis (C563430)
..expandGame Friedman Paradice syndrome (C535406)
..expandHydrocephalus With Cerebellar Agenesis (C564407)
..expandHydrocephalus, Autosomal Dominant (C563973)
..expandHydrocephalus, endocardial fibroelastosis, and cataracts (C535855)
..expandHydrocephalus, Normal Pressure (D006850) Child1
..expandHydrocephalus, Skeletal Anomalies, and Mental Disturbance (C563413)
..expandHydrocephalus, X-linked (C536078)
..expandHydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction (C564408)
..expandHydrolethalus syndrome (C536079)
..expandHydrolethalus Syndrome 1 (C565504)
..expandIris dysplasia hypertelorism deafness (C535537)
..expandKozlowski Brown Hardwick syndrome (C537506)
..expandMegalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome (C566381)
..expandOsteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension (C563478)
..expandPalmer Pagon syndrome (C538107)
..expandRadius absent anogenital anomalies (C535281)
..expandSchwartz Cohen-Addad Lambert syndrome (C535835)
..expandThoracic Dysplasia-Hydrocephalus Syndrome (C564774)
..expandVACTERL Association With Hydrocephalus (C564751)
..expandVACTERL association with hydrocephaly, X-linked (C536520)
..expandVACTERL hydrocephaly (C536521)
..expandVater Association With Hydrocephalus (C564752)
..expandVentriculomegaly With Defects Of The Radius And Kidney (C566565)
..expandWaaler Aarskog syndrome (C536461)
..expandYim Ebbin syndrome (C536713)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:1209
Name:Beemer Ertbruggen syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D006330|MESH:D006849|MESH:D019066
TreeNumbers:C10.228.140.602/C537668 |C10.228.140.631.450/C537668 |C14.240.400/C537668 |C14.280.400/C537668 |C16.131.240.400/C537668 |C23.550.291.812/C537668
Synonyms:Beemer lethal malformation syndrome
Slim Mappings:Cardiovascular disease|Congenital abnormality|Nervous system disease|Pathology (process)
Reference: MedGen: C537668
MeSH: C537668
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants