Disease Browser
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Parent Node: Deafness (D003638) | Parent Node: Deafness, Autosomal Recessive 18 (C566580) | Parent Node: Diseases (C) | ..Starting node ..DEAFNESS, AUTOSOMAL RECESSIVE 18A (OMIM:602092)
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Sister Nodes: | ..AARSKOG SYNDROME, AUTOSOMAL DOMINANT (OMIM:100050)
| ..ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE (OMIM:201250)
| ..Animal Diseases (D000820) 139
| ..AORTIC VALVE DISEASE 1 (OMIM:109730)
| ..ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS (OMIM:108900)
| ..AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
| ..AXENFELD-RIEGER SYNDROME, TYPE 2 (OMIM:601499)
| ..AXENFELD-RIEGER SYNDROME, TYPE 3 (OMIM:602482)
| ..Bacterial Infections and Mycoses (D001423) 620
| ..BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA (OMIM:251290)
| ..BRACHYDACTYLY, TYPE E1 (OMIM:113300)
| ..BRACHYDACTYLY-MENTAL RETARDATION SYNDROME (OMIM:600430)
| ..CAPILLARY MALFORMATIONS, CONGENITAL (OMIM:163000)
| ..Cardiovascular Diseases (D002318) 1025
| ..CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (OMIM:607706)
| ..Chemically-Induced Disorders (D064419) 111
| ..CHROMOSOME 13q14 DELETION SYNDROME (OMIM:613884)
| ..CHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
| ..CHROMOSOME 8q21.11 DELETION SYNDROME (OMIM:614230)
| ..Congenital, Hereditary, and Neonatal Diseases and Abnormalities (D009358) 4904
| ..CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
| ..COUSIN SYNDROME (OMIM:260660)
| ..CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
| ..CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
| ..D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
| ..DEAFNESS, AUTOSOMAL RECESSIVE 18A (OMIM:602092)
| ..DEAFNESS, AUTOSOMAL RECESSIVE 8 (OMIM:601072)
| ..Digestive System Diseases (D004066) 640
| ..Disorders of Environmental Origin (D007280) 4
| ..ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
| ..ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE (OMIM:225100)
| ..EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 (OMIM:601776)
| ..Endocrine System Diseases (D004700) 742
| ..Eye Diseases (D005128) 1278
| ..Female Urogenital Diseases and Pregnancy Complications (D005261) 962
| ..FRONTONASAL DYSPLASIA 1 (OMIM:136760)
| ..FRONTONASAL DYSPLASIA 2 (OMIM:613451)
| ..FRONTONASAL DYSPLASIA 3 (OMIM:613456)
| ..GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
| ..GLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126)
| ..GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS (OMIM:138800)
| ..GREENBERG DYSPLASIA (OMIM:215140)
| ..Hemic and Lymphatic Diseases (D006425) 790
| ..HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
| ..HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
| ..HYPOTRICHOSIS 2 (OMIM:146520)
| ..ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11 (OMIM:602400)
| ..Immune System Diseases (D007154) 597
| ..IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
| ..KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:613702)
| ..LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
| ..Male Urogenital Diseases (D052801) 765
| ..MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME (OMIM:277000)
| ..MEGALOBLASTIC ANEMIA 1 (OMIM:261100)
| ..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 (OMIM:155600)
| ..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 (OMIM:155601)
| ..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 (OMIM:609048)
| ..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 4 (OMIM:608035)
| ..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5 (OMIM:613099)
| ..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7 (OMIM:612263)
| ..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 (OMIM:614456)
| ..Mental Disorders (D001523) 1080
| ..METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT (OMIM:613646)
| ..MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
| ..MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
| ..MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
| ..MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
| ..MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
| ..MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
| ..MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
| ..MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
| ..Musculoskeletal Diseases (D009140) 2320
| ..MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (OMIM:607948)
| ..MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 1 (OMIM:607949)
| ..MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 2 (OMIM:611046)
| ..MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 3 (OMIM:612929)
| ..MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, X-LINKED (OMIM:300259)
| ..MYOPATHY, SPHEROID BODY (OMIM:182920)
| ..Neoplasms (D009369) 1125
| ..Nervous System Diseases (D009422) 3641
| ..NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
| ..NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
| ..NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A (OMIM:310500)
| ..NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B (OMIM:257270)
| ..NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C (OMIM:613216)
| ..NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A (OMIM:300071)
| ..NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR (OMIM:607721)
| ..NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
| ..Nutritional and Metabolic Diseases (D009750) 1518
| ..Occupational Diseases (D009784) 28
| ..Otorhinolaryngologic Diseases (D010038) 602
| ..OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA (OMIM:215150)
| ..PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL (OMIM:613000)
| ..Parasitic Diseases (D010272) 178
| ..Pathological Conditions, Signs and Symptoms (D013568) 3149
| ..POLYDACTYLY, PREAXIAL II (OMIM:174500)
| ..PONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
| ..PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA (OMIM:113900)
| ..PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
| ..RENAL TUBULAR DYSGENESIS (OMIM:267430)
| ..Respiratory Tract Diseases (D012140) 422
| ..SCAPULOPERONEAL MYOPATHY, MYH7-RELATED (OMIM:181430)
| ..SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
| ..Skin and Connective Tissue Diseases (D017437) 1491
| ..SPLIT-HAND/FOOT MALFORMATION 2 (OMIM:313350)
| ..SPLIT-HAND/FOOT MALFORMATION 3 (OMIM:246560)
| ..SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
| ..SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE (OMIM:608681)
| ..SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE (OMIM:609813)
| ..SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
| ..SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
| ..Stomatognathic Diseases (D009057) 594
| ..THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:612304)
| ..VAN DER WOUDE SYNDROME 1, MODIFIER OF (OMIM:604547)
| ..VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
| ..VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2 (OMIM:611938)
| ..VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3 (OMIM:614021)
| ..Virus Diseases (D014777) 307
| ..VISCERAL MYOPATHY (OMIM:155310)
| ..WAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
| ..Wounds and Injuries (D014947) 274
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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Term ID: | 3038 |
Name: | DEAFNESS, AUTOSOMAL RECESSIVE 18A |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:C566580|MESH:D003638 |
TreeNumbers: | C09.218.458.341.186/602092 |C09.218.458.341.887/C566580/602092 |C10.597.751.418.341.186/602092 |C10.597.751.418.341.887/C566580/602092 |C23.888.592.763.393.341.186/602092 |C23.888.592.763.393.341.887/C566580/602092 |
Synonyms: | DEAFNESS, AUTOSOMAL RECESSIVE 18 |DFNB18 |DFNB18A |
Slim Mappings: | Ear-nose-throat disease|Nervous system disease|Signs and symptoms |
Reference: |
MedGen: 602092
MeSH: 602092
OMIM: 602092;
Genes: USH1C; | 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_153676.3(USH1C):c.2167C>T (p.Gln723Ter) | 10083 | USH1C | Likely pathogenic | 146451547 | RCV000041266; RCV000211746; | N | MedGen:C1865870,OMIM:602092; MedGen:CN043648, Orphanet:ORPHA87884 | 11 | 17526211 | 17526211 | NM_153676.3:c.2167C>T | NP_710142.1:p.Gln723Ter | NC_000011.9:g.17526211G>A | - | C1865870 602092 Deafness, autosomal recessive 18; CN043648 Non-syndromic genetic deafness | | | NM_153676.3(USH1C):c.1823C>G (p.Pro608Arg) | 10083 | USH1C | Likely benign;Pathogenic | 41282932 | RCV000005455; RCV000041259; | N | MedGen:C1865870,OMIM:602092; MedGen:CN169374 | 11 | 17531093 | 17531093 | NM_153676.3:c.1823C>G | NP_710142.1:p.Pro608Arg | NC_000011.9:g.17531093G>C | OMIM Allelic Variant:605242.0009 | C1865870 602092 Deafness, autosomal recessive 18; CN169374 not specified | | |
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