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:
expandAbnormalities, Multiple (D000015)
Parent Node:
expandDeafness (D003638)
..Starting node
..expandBranchiogenic-Deafness Syndrome (C563780)

       Child Nodes:



 Sister Nodes: 
..expandAlbinism deafness syndrome (C537042)
..expandALPORT SYNDROME, X-LINKED (OMIM:301050)
..expandArthrogryposis multiplex with deafness, inguinal hernias, and early death (C535381)
..expandAyazi syndrome (C537793)
..expandBranchiogenic-Deafness Syndrome (C563780)
..expandBurn-Mckeown syndrome (C537411)
..expandCardioauditory syndrome of Sanchez Cascos (C535577)
..expandCharcot-Marie-Tooth Disease, Demyelinating, Type 1e (C566136)
..expandCorneal Degeneration, Ribbonlike, with Deafness (C565157)
..expandCoxoauricular Syndrome (C565148)
..expandDavenport Donlan syndrome (C535988)
..expandDeaf-Blind Disorders (D054062) Child26
..expandDeafness hyperuricemia neurologic ataxia (C535995)
..expandDeafness with Labyrinthine Aplasia Microtia and Microdontia (LAMM) (C548011)
..expandDEAFNESS, AUTOSOMAL DOMINANT 22;DFNA22 DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, (OMIM:606346)
..expandDEAFNESS, AUTOSOMAL DOMINANT 27 (OMIM:612431)
..expandDEAFNESS, AUTOSOMAL DOMINANT 33 (OMIM:614211)
..expandDEAFNESS, AUTOSOMAL DOMINANT 4A (OMIM:600652)
..expandDEAFNESS, AUTOSOMAL DOMINANT 50 (OMIM:613074)
..expandDEAFNESS, AUTOSOMAL DOMINANT 51 (OMIM:613558)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 18A (OMIM:602092)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 25 (OMIM:613285)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT (OMIM:609006)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 45 (OMIM:612433)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 74 (OMIM:613718)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 83 (OMIM:613685)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 84A (OMIM:613391)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 85 (OMIM:613392)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 89 (OMIM:613916)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 91 (OMIM:613453)
..expandDeafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities (C567467)
..expandDeafness, congenital onychodystrophy, recessive form (C538204)
..expandDeafness, Congenital, and Familial Myoclonic Epilepsy (C565649)
..expandDeafness, Congenital, and Onychodystrophy, Autosomal Dominant (C567274)
..expandDeafness, Congenital, with Vitiligo and Achalasia (C565642)
..expandDEAFNESS, NONSYNDROMIC, MODIFIER 1 (OMIM:605429)
..expandDEAFNESS, Y-LINKED 1 (OMIM:400043)
..expandDementia, familial Danish (C538209)
..expandDislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation (C566408)
..expandEmphysema, Congenital, With Deafness, Penoscrotal Web, And Mental Retardation (C566519)
..expandEpiphyseal Dysplasia of Femoral Head, Myopia, and Deafness (C565585)
..expandFine-Lubinsky syndrome (C537933)
..expandFountain syndrome (C537270)
..expandHerrmann syndrome (C538113)
..expandHirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness (C565518)
..expandHyperlipoproteinemia, Type II, and Deafness (C564170)
..expandHYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS (OMIM:614187)
..expandIchthyosiform erythroderma, corneal involvement, deafness (C537363)
..expandJohnson neuroectodermal syndrome (C535882)
..expandJones syndrome (C535886)
..expandKeratitis, Ichthyosis, and Deafness (KID) Syndrome (C536168)
..expandKonigsmark Knox Hussels syndrome (C537214)
..expandLynch Lee Murday syndrome (C537713)
..expandMental retardation-hypotonic facies syndrome, x-linked, 1 (C537457)
..expandMeyenburg-Altherr-Uehlinger syndrome (C537574)
..expandMicrocephaly deafness syndrome (C537326)
..expandMUCKLE-WELLS SYNDROME (OMIM:191900)
..expandMULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
..expandMyoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders (C565786)
..expandMyoclonus, Cerebellar Ataxia, and Deafness (C563549)
..expandNasodigitoacoustic syndrome (C538337)
..expandNathalie syndrome (C538342)
..expandNephrosis deafness urinary tract digital malformation (C536402)
..expandNoninsulin-dependent diabetes mellitus with deafness (C536246)
..expandNonsyndromic Deafness (C580334)
..expandOpticocochleodentate Degeneration (C563002)
..expandPERRAULT SYNDROME 3 (OMIM:614129)
..expandRamos Arroyo Clark syndrome (C535286)
..expandRetinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness (C567595)
..expandRichards-Rundle syndrome (C535674)
..expandSchimke X-linked mental retardation syndrome (C536630)
..expandSchlegelberger Grote syndrome (C536635)
..expandSecretory Diarrhea, Myopathy, and Deafness (C564382)
..expandSpastic paraplegia 24 (C536860)
..expandTemtamy preaxial brachydactyly syndrome (C536958)
..expandTibia, Absence of, with Congenital Deafness (C564764)
..expandTietz syndrome (C536919)
..expandWells Jankovic syndrome (C536692)
..expandWright Dyck syndrome (C536749)
..expandX-linked mental retardation Gustavson type (C536759)
..expandYemenite deaf-blind hypopigmentation syndrome (C536771)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:1463
Name:Branchiogenic-Deafness Syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D000015|MESH:D003638
TreeNumbers:C09.218.458.341.186/C563780 |C10.597.751.418.341.186/C563780 |C16.131.077/C563780 |C23.888.592.763.393.341.186/C563780
Synonyms:
Slim Mappings:Congenital abnormality|Ear-nose-throat disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C563780
MeSH: C563780
OMIM: 609166;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001760Abnormal foot morphology
3 HP:0004452Abnormality of the middle ear ossicles
4 HP:0000413Atresia of the external auditory canal
5 HP:0009796Branchial cyst
6 HP:0009795Branchial fistula
7 HP:0000410Mixed hearing impairment
8 HP:0004467Preauricular pit
9 HP:0000384Preauricular skin tag
10 HP:0000407Sensorineural hearing impairment
11 HP:0009882Short distal phalanx of finger
12 HP:0004322Short stature
13 HP:0000486Strabismus
14 HP:0000176Submucous cleft hard palate
15 HP:0000211Trismus
Disease Causing ClinVar Variants