MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
Parent Node:
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Deafness (D003638)
..Starting node
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DEAFNESS, AUTOSOMAL RECESSIVE 88 (OMIM:615429)

       Child Nodes:



 Sister Nodes: 
..expand3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739)  LSDB  L: 00484;
..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)
..expandCOLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS (OMIM:617306)
..expandCorneal Degeneration, Ribbonlike, with Deafness (C565157)
..expandCoxoauricular Syndrome (C565148)
..expandDavenport Donlan syndrome (C535988)
..expandDeaf-Blind Disorders (D054062) Child26  LSDB C:2
..expandDEAFNESS AND MYOPIA (OMIM:221200)
..expandDeafness hyperuricemia neurologic ataxia (C535995)
..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 40 (OMIM:616357)
..expandDEAFNESS, AUTOSOMAL DOMINANT 4A (OMIM:600652)
..expandDEAFNESS, AUTOSOMAL DOMINANT 4B (OMIM:614614)
..expandDEAFNESS, AUTOSOMAL DOMINANT 50 (OMIM:613074)
..expandDEAFNESS, AUTOSOMAL DOMINANT 51 (OMIM:613558)
..expandDEAFNESS, AUTOSOMAL DOMINANT 56 (OMIM:615629)
..expandDEAFNESS, AUTOSOMAL DOMINANT 64 (OMIM:614152)
..expandDEAFNESS, AUTOSOMAL DOMINANT 65 (OMIM:616044)
..expandDEAFNESS, AUTOSOMAL DOMINANT 66 (OMIM:616969)
..expandDEAFNESS, AUTOSOMAL DOMINANT 67 (OMIM:616340)
..expandDEAFNESS, AUTOSOMAL DOMINANT 68 (OMIM:616707)
..expandDEAFNESS, AUTOSOMAL DOMINANT 69 (OMIM:616697)
..expandDEAFNESS, AUTOSOMAL DOMINANT 70 (OMIM:616968)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 102 (OMIM:615974)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 103 (OMIM:616042)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 104 (OMIM:616515)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 18A (OMIM:602092)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 18B (OMIM:614945)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 25 (OMIM:613285)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 26, MODIFIER OF (OMIM:605429)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 29 (OMIM:614035)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT;DFNB36 DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT, (OMIM:609006)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 45 (OMIM:612433)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 61 (OMIM:613865)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 70 (OMIM:614934)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 74 (OMIM:613718)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 76 (OMIM:615540)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 83 (OMIM:613685)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 84A (OMIM:613391)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 84B (OMIM:614944)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 85 (OMIM:613392)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 86 (OMIM:614617)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 88 (OMIM:615429)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 89 (OMIM:613916)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 91 (OMIM:613453)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 93 (OMIM:614899)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 97 (OMIM:616705)
..expandDEAFNESS, AUTOSOMAL RECESSIVE 98 (OMIM:614861)
..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, X-LINKED 6 (OMIM:300914)
..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)
..expandMANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME (OMIM:615381)
..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,ClinVar, CTD
Term ID:3437
Name:DEAFNESS, AUTOSOMAL RECESSIVE 88
Definition:
Alternative IDs:DO:DOID:0110533
ParentIDs:MESH:D003638
TreeNumbers:C09.218.458.341.186/615429 |C10.597.751.418.341.186/615429 |C23.888.592.763.393.341.186/615429
Synonyms:DFNB88
Slim Mappings:Ear-nose-throat disease|Nervous system disease|Signs and symptoms
Reference: MedGen: 615429
MeSH: 615429
OMIM: 615429;
MSeqDR LSDB:  
Genes: ELMOD3;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000365Hearing impairment
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001135021.1(ELMOD3):c.794T>C (p.Leu265Ser)84173ELMOD3Pathogenic587777040RCV000055658; NMedGen:C2829267,OMIM:61542928561692985616929OMIM Allelic Variant:615427.0001,UniProtKB (protein):Q96FG2#VAR_070125C2829267 615429 Deafness, autosomal recessive 88;
MSeqDR Portal