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:
expandBranchio-Oto-Renal Syndrome (D019280)
Parent Node:
expandDuane Retraction Syndrome (D004370)
Parent Node:
expandHydrocephalus (D006849)
..Starting node
..expandBor-Duane hydrocephalus contiguous gene syndrome (C536574)

       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:1380
Name:Bor-Duane hydrocephalus contiguous gene syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D004370|MESH:D006849|MESH:D019280
TreeNumbers:C10.228.140.602/C536574 |C10.228.140.631.450/C536574 |C10.292.562.250/C536574 |C11.270.235/C536574 |C11.590.224/C536574 |C16.131.077.208/C536574 |C16.131.260.090/C536574 |C16.320.180.090/C536574 |C16.320.290.235/C536574
Synonyms:Branchio-Oto-Renal Duane hydrocephalus contiguous gene syndrome
Slim Mappings:Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C536574
MeSH: C536574
OMIM: 600257;

Genes: AF8T;
Phenotypes
1 HP:0001452Autosomal dominant contiguous gene syndrome
2 HP:0001939Abnormality of metabolism/homeostasis
3 HP:0000598Abnormality of the ear
4 HP:0000478Abnormality of the eye
5 HP:0003011Abnormality of the musculature
6 HP:0000238Hydrocephalus
Disease Causing ClinVar Variants