Disease Browser
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Parent Node: Deafness (D003638) | ..Starting node ..DEAFNESS, AUTOSOMAL DOMINANT 64 (OMIM:614152)
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Sister Nodes: | ..3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739) L: 00484;
| ..Albinism deafness syndrome (C537042)
| ..ALPORT SYNDROME, X-LINKED (OMIM:301050)
| ..Arthrogryposis multiplex with deafness, inguinal hernias, and early death (C535381)
| ..Ayazi syndrome (C537793)
| ..Branchiogenic-Deafness Syndrome (C563780)
| ..Burn-Mckeown syndrome (C537411)
| ..Cardioauditory syndrome of Sanchez Cascos (C535577)
| ..Charcot-Marie-Tooth Disease, Demyelinating, Type 1e (C566136)
| ..COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS (OMIM:617306)
| ..Corneal Degeneration, Ribbonlike, with Deafness (C565157)
| ..Coxoauricular Syndrome (C565148)
| ..Davenport Donlan syndrome (C535988)
| ..Deaf-Blind Disorders (D054062) 26 C:2
| ..DEAFNESS AND MYOPIA (OMIM:221200)
| ..Deafness hyperuricemia neurologic ataxia (C535995)
| ..DEAFNESS, AUTOSOMAL DOMINANT 22;DFNA22 DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, (OMIM:606346)
| ..DEAFNESS, AUTOSOMAL DOMINANT 27 (OMIM:612431)
| ..DEAFNESS, AUTOSOMAL DOMINANT 33 (OMIM:614211)
| ..DEAFNESS, AUTOSOMAL DOMINANT 40 (OMIM:616357)
| ..DEAFNESS, AUTOSOMAL DOMINANT 4A (OMIM:600652)
| ..DEAFNESS, AUTOSOMAL DOMINANT 4B (OMIM:614614)
| ..DEAFNESS, AUTOSOMAL DOMINANT 50 (OMIM:613074)
| ..DEAFNESS, AUTOSOMAL DOMINANT 51 (OMIM:613558)
| ..DEAFNESS, AUTOSOMAL DOMINANT 56 (OMIM:615629)
| ..DEAFNESS, AUTOSOMAL DOMINANT 64 (OMIM:614152)
| ..DEAFNESS, AUTOSOMAL DOMINANT 65 (OMIM:616044)
| ..DEAFNESS, AUTOSOMAL DOMINANT 66 (OMIM:616969)
| ..DEAFNESS, AUTOSOMAL DOMINANT 67 (OMIM:616340)
| ..DEAFNESS, AUTOSOMAL DOMINANT 68 (OMIM:616707)
| ..DEAFNESS, AUTOSOMAL DOMINANT 69 (OMIM:616697)
| ..DEAFNESS, AUTOSOMAL DOMINANT 70 (OMIM:616968)
| ..DEAFNESS, AUTOSOMAL RECESSIVE 102 (OMIM:615974)
| ..DEAFNESS, AUTOSOMAL RECESSIVE 103 (OMIM:616042)
| ..DEAFNESS, AUTOSOMAL RECESSIVE 104 (OMIM:616515)
| ..DEAFNESS, AUTOSOMAL RECESSIVE 18A (OMIM:602092)
| ..DEAFNESS, AUTOSOMAL RECESSIVE 18B (OMIM:614945)
| ..DEAFNESS, AUTOSOMAL RECESSIVE 25 (OMIM:613285)
| ..DEAFNESS, AUTOSOMAL RECESSIVE 26, MODIFIER OF (OMIM:605429)
| ..DEAFNESS, AUTOSOMAL RECESSIVE 29 (OMIM:614035)
| ..DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT;DFNB36 DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT, (OMIM:609006)
| ..DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791)
| ..DEAFNESS, AUTOSOMAL RECESSIVE 45 (OMIM:612433)
| ..DEAFNESS, AUTOSOMAL RECESSIVE 61 (OMIM:613865)
| ..DEAFNESS, AUTOSOMAL RECESSIVE 70 (OMIM:614934)
| ..DEAFNESS, AUTOSOMAL RECESSIVE 74 (OMIM:613718)
| ..DEAFNESS, AUTOSOMAL RECESSIVE 76 (OMIM:615540)
| ..DEAFNESS, AUTOSOMAL RECESSIVE 83 (OMIM:613685)
| ..DEAFNESS, AUTOSOMAL RECESSIVE 84A (OMIM:613391)
| ..DEAFNESS, AUTOSOMAL RECESSIVE 84B (OMIM:614944)
| ..DEAFNESS, AUTOSOMAL RECESSIVE 85 (OMIM:613392)
| ..DEAFNESS, AUTOSOMAL RECESSIVE 86 (OMIM:614617)
| ..DEAFNESS, AUTOSOMAL RECESSIVE 88 (OMIM:615429)
| ..DEAFNESS, AUTOSOMAL RECESSIVE 89 (OMIM:613916)
| ..DEAFNESS, AUTOSOMAL RECESSIVE 91 (OMIM:613453)
| ..DEAFNESS, AUTOSOMAL RECESSIVE 93 (OMIM:614899)
| ..DEAFNESS, AUTOSOMAL RECESSIVE 97 (OMIM:616705)
| ..DEAFNESS, AUTOSOMAL RECESSIVE 98 (OMIM:614861)
| ..Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities (C567467)
| ..Deafness, congenital onychodystrophy, recessive form (C538204)
| ..Deafness, Congenital, and Familial Myoclonic Epilepsy (C565649)
| ..Deafness, Congenital, and Onychodystrophy, Autosomal Dominant (C567274)
| ..Deafness, Congenital, with Vitiligo and Achalasia (C565642)
| ..DEAFNESS, X-LINKED 6 (OMIM:300914)
| ..DEAFNESS, Y-LINKED 1 (OMIM:400043)
| ..Dementia, familial Danish (C538209)
| ..Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation (C566408)
| ..Emphysema, Congenital, With Deafness, Penoscrotal Web, And Mental Retardation (C566519)
| ..Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness (C565585)
| ..Fine-Lubinsky syndrome (C537933)
| ..Fountain syndrome (C537270)
| ..Herrmann syndrome (C538113)
| ..Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness (C565518)
| ..Hyperlipoproteinemia, Type II, and Deafness (C564170)
| ..HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS (OMIM:614187)
| ..Ichthyosiform erythroderma, corneal involvement, deafness (C537363)
| ..Johnson neuroectodermal syndrome (C535882)
| ..Jones syndrome (C535886)
| ..Keratitis, Ichthyosis, and Deafness (KID) Syndrome (C536168)
| ..Konigsmark Knox Hussels syndrome (C537214)
| ..Lynch Lee Murday syndrome (C537713)
| ..MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME (OMIM:615381)
| ..Mental retardation-hypotonic facies syndrome, x-linked, 1 (C537457)
| ..Meyenburg-Altherr-Uehlinger syndrome (C537574)
| ..Microcephaly deafness syndrome (C537326)
| ..MUCKLE-WELLS SYNDROME (OMIM:191900)
| ..MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
| ..Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders (C565786)
| ..Myoclonus, Cerebellar Ataxia, and Deafness (C563549)
| ..Nasodigitoacoustic syndrome (C538337)
| ..Nathalie syndrome (C538342)
| ..Nephrosis deafness urinary tract digital malformation (C536402)
| ..Noninsulin-dependent diabetes mellitus with deafness (C536246)
| ..Nonsyndromic Deafness (C580334)
| ..Opticocochleodentate Degeneration (C563002)
| ..PERRAULT SYNDROME 3 (OMIM:614129)
| ..Ramos Arroyo Clark syndrome (C535286)
| ..Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness (C567595)
| ..Richards-Rundle syndrome (C535674)
| ..Schimke X-linked mental retardation syndrome (C536630)
| ..Schlegelberger Grote syndrome (C536635)
| ..Secretory Diarrhea, Myopathy, and Deafness (C564382)
| ..Spastic paraplegia 24 (C536860)
| ..Temtamy preaxial brachydactyly syndrome (C536958)
| ..Tibia, Absence of, with Congenital Deafness (C564764)
| ..Tietz syndrome (C536919)
| ..Wells Jankovic syndrome (C536692)
| ..Wright Dyck syndrome (C536749)
| ..X-linked mental retardation Gustavson type (C536759)
| ..Yemenite deaf-blind hypopigmentation syndrome (C536771)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD
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Term ID: | 3344 |
Name: | DEAFNESS, AUTOSOMAL DOMINANT 64 |
Definition: | |
Alternative IDs: | DO:DOID:0110585 |
ParentIDs: | MESH:D003638 |
TreeNumbers: | C09.218.458.341.186/614152 |C10.597.751.418.341.186/614152 |C23.888.592.763.393.341.186/614152 |
Synonyms: | DFNA64 |
Slim Mappings: | Ear-nose-throat disease|Nervous system disease|Signs and symptoms |
Reference: |
MedGen: 614152
MeSH: 614152
OMIM: 614152; MSeqDR : Genes: DIABLO; | Phenotypes | | Disease Causing ClinVar Variants | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_001371333.1(DIABLO):c.605G>A (p.Arg202Gln) | 56616 | DIABLO | Uncertain significance | -1 | RCV003146080; | N | MONDO:MONDO:0013593,MedGen:C3279948,OMIM:614152, Orphanet:90635 | 12 | 122693043 | 122693043 | | | NC_000012.11:g.122693043C>T | - | | | NM_001371333.1(DIABLO):c.377C>T (p.Ser126Leu) | 56616 | DIABLO | Pathogenic | 387906893 | RCV000023402|RCV000522513; | N | MONDO:MONDO:0013593,MedGen:C3279948,OMIM:614152, Orphanet:90635|MedGen:CN517202 | 12 | 122701355 | 122701355 | | | 12:g.122701355G>A | ClinGen:CA129213,UniProtKB:Q9NR28#VAR_066487,OMIM:605219.0001 | C3279948 614152 Deafness, autosomal dominant 64; | | NM_001371333.1(DIABLO):c.219G>C (p.Leu73Phe) | 56616 | DIABLO | Uncertain significance | 1566025862 | RCV001693506; | N | MONDO:MONDO:0013593,MedGen:C3279948,OMIM:614152, Orphanet:90635; MONDO:MONDO:0019587,MedGen:C5779548,OMIM:PS124900, Orphanet:90635 | 12 | 122702909 | 122702909 | | | 122702909 | - | | | NM_001371333.1(DIABLO):c.51-318dup | 56616 | DIABLO | Benign | 5801478 | RCV001611219|RCV002495965; | N | MedGen:C3661900|MONDO:MONDO:0013593,MedGen:C3279948,OMIM:614152, Orphanet:90635 | 12 | 122709500 | 122709501 | | | 122709500 | - | | |
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