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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Anus, Imperforate (D001006)
Parent Node:
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Heart Defects, Congenital (D006330)
..Starting node
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VATER association (C536534)

       Child Nodes:



 Sister Nodes: 
..expand22q11 Deletion Syndrome (D058165) Child5
..expandAarskog Syndrome (C535331) Child1
..expandAl Gazali Aziz Salem syndrome (C535613)
..expandAlagille Syndrome (D016738)
..expandAmastia, Bilateral, With Ureteral Triplication And Dysmorphism (C566295)
..expandAortic Coarctation (D001017) Child3
..expandAortic Valve Disease (C563178) Child1
..expandAplasia Cutis Congenita, Congenital Heart Defect, And Frontonasal Cysts (C566997)
..expandArrhythmogenic Right Ventricular Dysplasia (D019571) Child13
..expandArterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly (C566529)
..expandBaetz-Greenwalt syndrome (C537795)
..expandBarth Syndrome (D056889) Child2
..expandBEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..expandBeemer Ertbruggen syndrome (C537668)
..expandBixler Christian Gorlin syndrome (C537632)
..expandBlepharophimosis syndrome Ohdo type (C536232)
..expandBonneau Syndrome (C564875)
..expandBurn-Mckeown syndrome (C537411)
..expandCardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies (C563414)
..expandCardiac Valvular Defect, Developmental (C565882)
..expandCardiac valvular dysplasia, X-linked (C535576)
..expandCardioauditory syndrome of Sanchez Cascos (C535577)
..expandCardiocranial syndrome (C535578)
..expandCardiofaciocutaneous syndrome (C535579)
..expandChromosome 1q21.1 Duplication Syndrome (C567290)
..expandChromosome 6pter-P24 Deletion Syndrome (C567239)
..expandCleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly (C563936)
..expandCongenital Heart Defects, X-Linked (C567444)
..expandConotruncal cardiac defects (C535464) Child1
..expandCor Triatriatum (D003310)
..expandCoronary Vessel Anomalies (D003330) Child3
..expandCorpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..expandCranioacrofacial Syndrome (C565147)
..expandCraniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation (C564271)
..expandCraniofaciofrontodigital Syndrome (C567298)
..expandCrisscross Heart (D003420)
..expandDeafness, Congenital Heart Defects, and Posterior Embryotoxon (C566604)
..expandDextrocardia (D003914) Child10
..expandDistichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature (C565092)
..expandDuctus Arteriosus, Patent (D004374) Child6
..expandEbstein Anomaly (D004437)
..expandEctopia Cordis (D054083)
..expandEctrodactyly cardiopathy dysmorphism (C536187)
..expandEctrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia (C563344)
..expandEisenmenger Complex (D004541)
..expandEllis Yale Winter syndrome (C536205)
..expandEmanuel syndrome (C535733)
..expandFaciocardiomelic Dysplasia, Lethal (C565578)
..expandFaciocardiomelic Syndrome (C567176)
..expandFaciocardiorenal syndrome (C536388)
..expandFamilial anomalous origin of right pulmonary artery (C535681)
..expandFragile Site 16p12 (C565001)
..expandFrontoocular Syndrome (C565340)
..expandGay Feinmesser Cohen syndrome (C537676)
..expandGenito palato cardiac syndrome (C537683)
..expandGrowth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia (C565755)
..expandHeart defects limb shortening (C535850)
..expandHeart Septal Defects (D006343) Child47
..expandHeart-hand syndrome, Slovenian type (C535852)
..expandHeart-hand syndrome, Spanish type (C535853)
..expandHecht Scott syndrome (C535856)
..expandHeterotaxy Syndrome (D059446) Child7
..expandHirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly (C565817)
..expandHirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction (C563939)
..expandHittner Hirsch Kreh syndrome (C538323)
..expandHo Kaufman Mcalister syndrome (C538325)
..expandHolt-Oram syndrome (C535326)
..expandHolzgreve Wagner Rehder syndrome (C535327)
..expandHydrolethalus syndrome (C536079)
..expandHypoplastic Left Heart Syndrome (D018636)
..expandIsolated Noncompaction of the Ventricular Myocardium (D056830) Child5
..expandJarcho-Levin syndrome (C537565) Child1
..expandKasznica Carlson Coppedge syndrome (C537011)
..expandKleefstra Syndrome (C563043)
..expandLEOPARD Syndrome (D044542) Child2
..expandLevocardia (D007979)
..expandLong QT Syndrome (D008133) Child20
..expandLowry Maclean syndrome (C537037)
..expandMalpuech facial clefting syndrome (C535704)
..expandMarcus Gunn phenomenon (C535908)
..expandMarfan Syndrome (D008382) Child9
..expandMcDonough syndrome (C538158)
..expandMcKusick Kaufman syndrome (C538159)
..expandMcPherson Clemens syndrome (C538160)
..expandMeacham Syndrome (C563821)
..expandMehta Lewis Patton syndrome (C536147)
..expandMexican Cardiomelic Dysplasia (C563087)
..expandMicrocephaly seizures mental retardation heart disorders (C537544)
..expandMicrocephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs (C563341)
..expandNoncompaction of Left Ventricular Myocardium with Congenital Heart Defects (C564690)
..expandNoonan Syndrome (D009634) Child12
..expandOrstavik Lindemann Solberg syndrome (C537137)
..expandPancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease (C564011)
..expandPilotto syndrome (C537400)
..expandPowell Chandra Saal syndrome (C538357)
..expandPseudodiastrophic dysplasia (C535826)
..expandPulmonary Atresia with Intact Ventricular Septum (C562832)
..expandRight ventricle hypoplasia (C535682)
..expandRommen Mueller Sybert syndrome (C535871)
..expandSaal Bulas syndrome (C537193)
..expandSacral meningocele conotruncal heart defects (C537223)
..expandScimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities (C564262)
..expandShort QT Syndrome 1 (C566506)
..expandShort QT Syndrome 2 (C566505)
..expandShort QT Syndrome 3 (C566504)
..expandSimpson-Golabi-Behmel syndrome (C537340)
..expandSonoda syndrome (C536680)
..expandSteinfeld Syndrome (C566655)
..expandStratton-Parker Syndrome (C566105)
..expandSubaortic Stenosis, Membranous (C564793)
..expandTabatznik syndrome (C536784)
..expandTamari Goodman syndrome (C536896)
..expandTARP syndrome (C536942)
..expandTer Haar syndrome (C537274)
..expandTetralogy of Fallot (D013771) Child4
..expandThomas syndrome (C536514)
..expandTransposition of Great Vessels (D014188) Child5
..expandTricuspid Atresia (D018785) Child1
..expandTrilogy of Fallot (D014286)
..expandTurner Syndrome (D014424) Child2
..expandUhl anomaly (C536932)
..expandVACTERL association (C536495)
..expandVACTERL association with hydrocephaly, X-linked (C536520)
..expandVACTERL hydrocephaly (C536521)
..expandVATER association (C536534)
..expandVater Association With Hydrocephalus (C564752)
..expandVater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency (C564244)
..expandVentricular extrasystoles perodactyly Robin sequence (C536537)
..expandVerloove-Vanhorick Brubakk syndrome (C536541)
..expandWolff-Parkinson-White Syndrome (D014927)
..expandYoung Simpson syndrome (C536717)
..expandZunich neuroectodermal syndrome (C536729)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:11546
Name:VATER association
Definition:
Alternative IDs:OMIM:192350
ParentIDs:MESH:D001006|MESH:D006330
TreeNumbers:C06.198.050/C536534 |C14.240.400/C536534 |C14.280.400/C536534 |C16.131.240.400/C536534 |C16.131.314.094/C536534
Synonyms:VACTERL ASSOCIATION, INCLUDED |Vertebral defects, Anal atresia, Tracheoesophageal fistula with Esophageal atresia, and Radial dysplasia
Slim Mappings:Cardiovascular disease|Congenital abnormality|Digestive system disease
Reference: MedGen: C536534
MeSH: C536534
OMIM: 192350;

Genes: HOXD13;
Phenotypes
1 HP:0001739Abnormal nasopharynx morphology
2 HP:0000766Abnormal sternum morphology
3 HP:0003468Abnormal vertebral morphology
4 HP:0000772Abnormality of the ribs
5 HP:0003974Absent radius
6 HP:0002023Anal atresia
7 HP:0000453Choanal atresia
8 HP:0000086Ectopic kidney
9 HP:0002032Esophageal atresia
10 HP:0001508Failure to thrive
11 HP:0000126Hydronephrosis
12 HP:0002984Hypoplasia of the radius
13 HP:0000047Hypospadias
14 HP:0001511Intrauterine growth retardation
15 HP:0000239Large fontanelles
16 HP:0001602Laryngeal stenosis
17 HP:0002085Occipital encephalocele
18 HP:0001643Patent ductus arteriosus
19 HP:0010479Patent urachus
20 HP:0008897Postnatal growth retardation
21 HP:0100258Preaxial polydactyly
22 HP:0002974Radioulnar synostosis
23 HP:0000104Renal agenesis
24 HP:0000110Renal dysplasia
25 HP:0002650Scoliosis
26 HP:0009778Short thumb
27 HP:0001195Single umbilical artery
28 HP:0002414Spina bifida
29 HP:0003745Sporadic
30 HP:0001159Syndactyly
31 HP:0002144Tethered cord
32 HP:0001636Tetralogy of Fallot
33 HP:0002575Tracheoesophageal fistula
34 HP:0001669Transposition of the great arteries
35 HP:0001199Triphalangeal thumb
36 HP:0000074Ureteropelvic junction obstruction
37 HP:0001629Ventricular septal defect
38 HP:0000076Vesicoureteral reflux
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_001451.2(FOXF1):c.658G>T (p.Gly220Cys)2294FOXF1Likely pathogenic752504125RCV000201858; NMedGen:C0220708,OMIM:192350,SNOMED CT:27742002168654483386544833NM_001451.2:c.658G>TNP_001442.2:p.Gly220CysNC_000016.9:g.86544833G>T-C0220708 192350 VATER association