Disease Browser
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Parent Node: Hearing Loss, Sensorineural (D006319) | ..Starting node ..Deafness, Autosomal Dominant 28 (C563890)
| Child Nodes:
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Sister Nodes: | ..Acrootoocular Syndrome (C564866)
| ..Albinism ocular late onset sensorineural deafness (C537043)
| ..Arthrogryposis-like hand anomaly and sensorineural deafness (C535386)
| ..Ataxia, Deafness, and Cardiomyopathy (C565932)
| ..Athabaskan brainstem dysgenesis (C535397)
| ..Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease (C565928)
| ..Auditory Neuropathy, Nonsyndromic Recessive (C563398)
| ..Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss (C537789)
| ..Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
| ..BADS Syndrome (C562663)
| ..Barakat syndrome (C537907)
| ..Bartter Syndrome, Type 4A (C566530)
| ..Bartter Syndrome, Type 4b (C567762)
| ..Bjornstad syndrome (C537633)
| ..Boudhina Yedes Khiari syndrome (C537939)
| ..Brachydactyly, Intraventricular Septal Defect, And Deafness (C566521)
| ..Brown-Vialetto-Van Laere syndrome (C537111)
| ..CAPOS syndrome (C535351)
| ..Cardiomyopathy, Dilated, 1J (C565337)
| ..Cataract ataxia deafness (C538283)
| ..Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation (C563390)
| ..Cerebellar Ataxia and Hypergonadotropic Hypogonadism (C565308)
| ..Cerebellar Ataxia and Neurosensory Deafness (C565869)
| ..Cerebellar Ataxia, Deafness, and Narcolepsy (C565825)
| ..Charcot-Marie-Tooth disease and deafness (C538078)
| ..Charcot-Marie-Tooth disease, Type 2J (C535417)
| ..Chitty Hall Baraitser syndrome (C535928)
| ..Chudley-Mccullough syndrome (C535459)
| ..Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss (C536427)
| ..Cochleosaccular degeneration of the inner ear and progressive cataracts (C536432)
| ..Coloboma, cleft lip/palate and mental retardation syndrome (C535971)
| ..Congenital ectodermal dysplasia with hearing loss (C535757)
| ..Corneal dystrophy and perceptive deafness (C535473)
| ..Cowchock syndrome (C536450)
| ..Craniofacial deafness hand syndrome (C536453)
| ..Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness (C565306)
| ..Deafness enamel hypoplasia nail defects (C535994)
| ..Deafness oligodontia syndrome (C538049)
| ..Deafness, Aminoglycoside-Induced (C564013)
| ..Deafness, Autosomal Dominant 1 (C565121)
| ..Deafness, Autosomal Dominant 10 (C563354)
| ..Deafness, Autosomal Dominant 11 (C563353)
| ..Deafness, Autosomal Dominant 12 (C563295)
| ..Deafness, Autosomal Dominant 13 (C566612)
| ..Deafness, Autosomal Dominant 15 (C566545)
| ..Deafness, Autosomal Dominant 16 (C565832)
| ..Deafness, Autosomal Dominant 18 (C565267)
| ..Deafness, Autosomal Dominant 20 (C565754)
| ..Deafness, Autosomal Dominant 21 (C564634)
| ..Deafness, Autosomal Dominant 23 (C565357)
| ..Deafness, Autosomal Dominant 24 (C565239)
| ..Deafness, Autosomal Dominant 25 (C565319)
| ..Deafness, Autosomal Dominant 28 (C563890)
| ..Deafness, Autosomal Dominant 2A (C567441)
| ..Deafness, Autosomal Dominant 2B (C567214)
| ..Deafness, Autosomal Dominant 30 (C564706)
| ..Deafness, Autosomal Dominant 31 (C563888)
| ..Deafness, Autosomal Dominant 36 (C564675)
| ..Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 (C565316)
| ..Deafness, Autosomal Dominant 3A (C567277)
| ..Deafness, Autosomal Dominant 3B (C567215)
| ..Deafness, Autosomal Dominant 4 (C563460)
| ..Deafness, Autosomal Dominant 41 (C564272)
| ..Deafness, Autosomal Dominant 43 (C564246)
| ..Deafness, Autosomal Dominant 44 (C564399)
| ..Deafness, Autosomal Dominant 47 (C563885)
| ..Deafness, Autosomal Dominant 48 (C564322)
| ..Deafness, Autosomal Dominant 49 (C564250)
| ..Deafness, Autosomal Dominant 5 (C563410)
| ..Deafness, Autosomal Dominant 52 (C564348)
| ..Deafness, Autosomal Dominant 53 (C566495)
| ..Deafness, Autosomal Dominant 59 (C567216)
| ..Deafness, Autosomal Dominant 6 (C563421)
| ..Deafness, Autosomal Dominant 7 (C563321)
| ..Deafness, Autosomal Dominant 9 (C563335)
| ..Deafness, autosomal dominant nonsyndromic sensorineural 17 (C538050)
| ..Deafness, autosomal dominant nonsyndromic sensorineural 22 (C538197)
| ..Deafness, autosomal dominant nonsyndromic sensorineural 23 (C538198)
| ..Deafness, autosomal dominant nonsyndromic sensorineural 24 (C538199)
| ..Deafness, Autosomal Recessive (C564609)
| ..Deafness, Autosomal Recessive 10 (C565341) 1
| ..Deafness, Autosomal Recessive 12 (C563327)
| ..Deafness, Autosomal Recessive 13 (C566410)
| ..Deafness, Autosomal Recessive 14 (C566344)
| ..Deafness, Autosomal Recessive 15 (C566611)
| ..Deafness, Autosomal Recessive 16 (C566339)
| ..Deafness, Autosomal Recessive 17 (C566418)
| ..Deafness, Autosomal Recessive 18 (C566580) 1
| ..Deafness, Autosomal Recessive 1A (C567134)
| ..Deafness, Autosomal Recessive 1b (C567213)
| ..Deafness, Autosomal Recessive 2 (C564007)
| ..Deafness, Autosomal Recessive 20 (C565828)
| ..Deafness, Autosomal Recessive 21 (C566353)
| ..Deafness, Autosomal Recessive 22 (C564633)
| ..Deafness, Autosomal Recessive 23 (C563705)
| ..Deafness, Autosomal Recessive 26 (C565329)
| ..Deafness, Autosomal Recessive 27 (C565287)
| ..Deafness, Autosomal Recessive 28 (C565218)
| ..Deafness, Autosomal Recessive 3 (C563961)
| ..Deafness, Autosomal Recessive 30 (C564624)
| ..Deafness, Autosomal Recessive 31 (C564629)
| ..Deafness, Autosomal Recessive 32 (C563884)
| ..Deafness, Autosomal Recessive 33 (C564602)
| ..Deafness, Autosomal Recessive 35 (C563908)
| ..Deafness, Autosomal Recessive 36 (C563815)
| ..Deafness, Autosomal Recessive 37 (C564331)
| ..Deafness, Autosomal Recessive 38 (C564273)
| ..Deafness, Autosomal Recessive 39 (C564265)
| ..Deafness, Autosomal Recessive 40 (C564266)
| ..Deafness, Autosomal Recessive 42 (C566460)
| ..Deafness, Autosomal Recessive 44 (C565716)
| ..Deafness, Autosomal Recessive 46 (C566459)
| ..Deafness, Autosomal Recessive 47 (C566498)
| ..Deafness, Autosomal Recessive 48 (C563720)
| ..Deafness, Autosomal Recessive 49 (C565717)
| ..Deafness, Autosomal Recessive 5 (C563444)
| ..Deafness, Autosomal Recessive 53 (C566453)
| ..Deafness, Autosomal Recessive 59 (C565698)
| ..Deafness, Autosomal Recessive 6 (C563418)
| ..Deafness, Autosomal Recessive 62 (C565719)
| ..Deafness, Autosomal Recessive 63 (C566951)
| ..Deafness, Autosomal Recessive 65 (C565211)
| ..Deafness, Autosomal Recessive 66 (C565701)
| ..Deafness, Autosomal Recessive 67 (C565207)
| ..Deafness, Autosomal Recessive 68 (C563669)
| ..Deafness, Autosomal Recessive 7 (C563417)
| ..Deafness, Autosomal Recessive 71 (C567562)
| ..Deafness, Autosomal Recessive 77 (C567543)
| ..Deafness, Autosomal Recessive 79 (C567651)
| ..Deafness, Autosomal Recessive 9 (C563396)
| ..Deafness, Autosomal Recessive, 24 (C567027)
| ..Deafness, Childhood-Onset Neurosensory, Autosomal Recessive 8 (C563395) 1
| ..Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia (C565195)
| ..Deafness, Congenital, with Total Albinism (C565646)
| ..Deafness, High-Frequency Sensorineural, X-Linked (C564432)
| ..Deafness, Mid-Tone Neural (C565122)
| ..Deafness, Progressive High-Tone Neural (C562423)
| ..Deafness, Sensorineural, And Male Infertility (C567010)
| ..Deafness, Sensorineural, Autosomal-Mitochondrial Type (C565637)
| ..Deafness, Sensorineural, with Hypertrophic Cardiomyopathy (C565236)
| ..Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease (C565120)
| ..Deafness, X-Linked 1 (C564433)
| ..Deafness, X-Linked 3 (C564727)
| ..Deafness, X-Linked 4 (C564723)
| ..Deafness, X-Linked 5 (C564472)
| ..Digitorenocerebral Syndrome (C563052)
| ..Donnai-Barrow syndrome (C536390)
| ..Ectodermal Dysplasia and Neurosensory Deafness (C565606)
| ..Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features (C536182)
| ..Enlarged Vestibular Aqueduct (C566366)
| ..Ermine phenotype (C535508)
| ..Fitzsimmons Walson Mellor syndrome (C537937)
| ..Flynn Aird syndrome (C537066)
| ..Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness (C564999)
| ..Gemignani syndrome (C537678)
| ..Gonadal dysgenesis XX type deafness (C537286) 1
| ..Griscelli syndrome type 1 (C537301)
| ..Hearing Loss, Central (D006313) 16
| ..Hearing Loss, Noise-Induced (D006317)
| ..HID Syndrome (C566528)
| ..Histiocytosis with joint contractures and sensorineural deafness (C538322)
| ..Hittner Hirsch Kreh syndrome (C538323)
| ..Homozygous 11p15-p14 Deletion Syndrome (C564701)
| ..Insulin-Like Growth Factor I Deficiency (C563867)
| ..Johanson Blizzard syndrome (C535880)
| ..Keratoderma palmoplantar deafness (C536152)
| ..Knuckle pads, leuconychia and sensorineural deafness (C537210)
| ..Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones (C564283)
| ..Macrothrombocytopenia progressive deafness (C537831)
| ..Marshall syndrome (C536025)
| ..Martin-Probst Deafness-Mental Retardation Syndrome (C564495)
| ..MYH9-Related Disorders (C535507)
| ..Nephropathy deafness hyperparathyroidism (C536401)
| ..Nephropathy with Pretibial Epidermolysis Bullosa and Deafness (C563798)
| ..Nephropathy, Progressive, with Deafness (C563713)
| ..Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia (C566352)
| ..Nonsyndromic sensorineural hearing loss (C537845)
| ..Optic atrophy 1 and deafness (C537124)
| ..Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
| ..Otodental Dysplasia (C563482)
| ..Otofacioosseous-Gonadal Syndrome (C566597)
| ..OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA (OMIM:215150)
| ..Paragangliomas with Sensorineural Hearing Loss (C566831)
| ..Pendred syndrome (C536648)
| ..Pfeiffer Kapferer syndrome (C537887)
| ..Presbycusis (D011304) 2
| ..Progressive hearing loss stapes fixation (C536424)
| ..Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness (C562894)
| ..Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss (C566428)
| ..Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness (C562897)
| ..Retinitis Pigmentosa Inversa with Deafness (C564842)
| ..Robinson Miller Bensimon syndrome (C535864)
| ..Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction (C564829)
| ..Schaap Taylor Baraitser syndrome (C536626)
| ..Sensorineural Deafness With Mild Renal Dysfunction (C567544)
| ..Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth (C566560)
| ..SeSAME syndrome (C557674)
| ..Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy (C566682)
| ..Split-Hand/Foot Malformation With Sensorineural Hearing Loss (C565647)
| ..Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness (C566659)
| ..Stickler Syndrome, Autosomal Recessive, COL9A1-Related (C565177)
| ..Stickler syndrome, type 1 (C537492)
| ..Thiamine responsive megaloblastic anemia syndrome (C536510)
| ..Townes-Brocks syndrome (C536974)
| ..Townes-Brocks-Branchiootorenal-Like Syndrome (C566272)
| ..Treft Sanborn Carey syndrome (C536544)
| ..Tunglang Savage Bellman syndrome (C536927)
| ..Usher Syndromes (D052245) 19
| ..Vohwinkel syndrome (C536457)
| ..Winkelman Bethge Pfeiffer syndrome (C536710)
| ..Wolfram Syndrome 2 (C565733)
| ..Wolfram Syndrome, Mitochondrial Form (C564012)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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Term ID: | 2995 |
Name: | Deafness, Autosomal Dominant 28 |
Definition: | |
Alternative IDs: | OMIM:608641 |
ParentIDs: | MESH:D006319 |
TreeNumbers: | C09.218.458.341.887/C563890 |C10.597.751.418.341.887/C563890 |C23.888.592.763.393.341.887/C563890 |
Synonyms: | DFNA28 |
Slim Mappings: | Ear-nose-throat disease|Nervous system disease|Signs and symptoms |
Reference: |
MedGen: C563890
MeSH: C563890
OMIM: 608641;
Genes: GRHL2; | 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 | Disease_hgmd | NM_024915.3(GRHL2):c.1258-1G>A | 79977 | GRHL2 | Pathogenic | 398123006 | RCV000077792; | N | MedGen:C1837640,OMIM:608641 | 8 | 102643864 | 102643864 | NM_024915.3:c.1258-1G>A | | NC_000008.10:g.102643864G>A | OMIM Allelic Variant:608576.0002 | C1837640 608641 Deafness, autosomal dominant 28 | | | NM_024915.3(GRHL2):c.1609dupC (p.Arg537Profs) | 79977 | GRHL2 | Pathogenic | 398122997 | RCV000002279; | N | MedGen:C1837640,OMIM:608641 | 8 | 102656450 | 102656450 | NM_024915.3:c.1609dupC | NP_079191.2:p.Arg537Profs | NC_000008.10:g.102656450dupC | OMIM Allelic Variant:608576.0001 | C1837640 608641 Deafness, autosomal dominant 28 | | |
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