Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
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Abnormalities, Multiple (D000015)
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Craniofacial Abnormalities (D019465)
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Developmental Disabilities (D002658)
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Heart Defects, Congenital (D006330)
..Starting node
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Malpuech facial clefting syndrome (C535704)

       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:6754
Name:Malpuech facial clefting syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D000015|MESH:D002658|MESH:D006330|MESH:D019465
TreeNumbers:C05.660.207/C535704 |C14.240.400/C535704 |C14.280.400/C535704 |C16.131.077/C535704 |C16.131.240.400/C535704 |C16.131.621.207/C535704 |F03.550.362/C535704
Synonyms:Facial clefting syndrome, Gypsy type |Malpuech syndrome
Slim Mappings:Cardiovascular disease|Congenital abnormality|Mental disorder|Musculoskeletal disease
Reference: MedGen: C535704
MeSH: C535704
OMIM: 248340;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000377Abnormality of the pinna
3 HP:0000048Bifid scrotum
4 HP:0000581Blepharophimosis
5 HP:0000175Cleft palate
6 HP:0000204Cleft upper lip
7 HP:0030084Clinodactyly
8 HP:0000537Epicanthus inversus
9 HP:0002006Facial cleft
10 HP:0001510Growth delay
11 HP:0000365Hearing impairment
12 HP:0002553Highly arched eyebrow
13 HP:0000316Hypertelorism
14 HP:0001249Intellectual disability
15 HP:0000054Micropenis
16 HP:0000808Penoscrotal hypospadias
17 HP:0100258Preaxial polydactyly
18 HP:0000508Ptosis
19 HP:0004322Short stature
Disease Causing ClinVar Variants