Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
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Diseases (C)

       Child Nodes:
........expandAARSKOG SYNDROME, AUTOSOMAL DOMINANT (OMIM:100050)
........expandACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE (OMIM:201250)
........expandAnimal Diseases (D000820) Child139
........expandAORTIC VALVE DISEASE 1 (OMIM:109730)
........expandATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS (OMIM:108900)
........expandAXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
........expandAXENFELD-RIEGER SYNDROME, TYPE 2 (OMIM:601499)
........expandAXENFELD-RIEGER SYNDROME, TYPE 3 (OMIM:602482)
........expandBacterial Infections and Mycoses (D001423) Child620
........expandBAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA (OMIM:251290)
........expandBRACHYDACTYLY, TYPE E1 (OMIM:113300)
........expandBRACHYDACTYLY-MENTAL RETARDATION SYNDROME (OMIM:600430)
........expandCAPILLARY MALFORMATIONS, CONGENITAL (OMIM:163000)
........expandCardiovascular Diseases (D002318) Child1025
........expandCHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (OMIM:607706)
........expandChemically-Induced Disorders (D064419) Child111
........expandCHROMOSOME 13q14 DELETION SYNDROME (OMIM:613884)
........expandCHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
........expandCHROMOSOME 8q21.11 DELETION SYNDROME (OMIM:614230)
........expandCongenital, Hereditary, and Neonatal Diseases and Abnormalities (D009358) Child4904
........expandCONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
........expandCOUSIN SYNDROME (OMIM:260660)
........expandCRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
........expandCUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
........expandD-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
........expandDEAFNESS, AUTOSOMAL RECESSIVE 18A (OMIM:602092)
........expandDEAFNESS, AUTOSOMAL RECESSIVE 8 (OMIM:601072)
........expandDigestive System Diseases (D004066) Child640
........expandDisorders of Environmental Origin (D007280) Child4
........expandECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
........expandECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE (OMIM:225100)
........expandEHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 (OMIM:601776)
........expandEndocrine System Diseases (D004700) Child742
........expandEye Diseases (D005128) Child1278
........expandFemale Urogenital Diseases and Pregnancy Complications (D005261) Child962
........expandFRONTONASAL DYSPLASIA 1 (OMIM:136760)
........expandFRONTONASAL DYSPLASIA 2 (OMIM:613451)
........expandFRONTONASAL DYSPLASIA 3 (OMIM:613456)
........expandGELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
........expandGLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126)
........expandGOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS (OMIM:138800)
........expandGREENBERG DYSPLASIA (OMIM:215140)
........expandHemic and Lymphatic Diseases (D006425) Child790
........expandHYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
........expandHYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
........expandHYPOTRICHOSIS 2 (OMIM:146520)
........expandICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11 (OMIM:602400)
........expandImmune System Diseases (D007154) Child597
........expandIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
........expandKLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:613702)
........expandLOEYS-DIETZ SYNDROME 2 (OMIM:610168)
........expandMale Urogenital Diseases (D052801) Child765
........expandMAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME (OMIM:277000)
........expandMEGALOBLASTIC ANEMIA 1 (OMIM:261100)
........expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 (OMIM:155600)
........expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 (OMIM:155601)
........expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 (OMIM:609048)
........expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 4 (OMIM:608035)
........expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5 (OMIM:613099)
........expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7 (OMIM:612263)
........expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 (OMIM:614456)
........expandMental Disorders (D001523) Child1080
........expandMETHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT (OMIM:613646)
........expandMITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
........expandMITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
........expandMITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
........expandMITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
........expandMUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
........expandMUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
........expandMULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
........expandMULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
........expandMusculoskeletal Diseases (D009140) Child2320
........expandMYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (OMIM:607948)
........expandMYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 1 (OMIM:607949)
........expandMYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 2 (OMIM:611046)
........expandMYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 3 (OMIM:612929)
........expandMYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, X-LINKED (OMIM:300259)
........expandMYOPATHY, SPHEROID BODY (OMIM:182920)
........expandNeoplasms (D009369) Child1125
........expandNervous System Diseases (D009422) Child3641
........expandNEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
........expandNEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
........expandNIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A (OMIM:310500)
........expandNIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B (OMIM:257270)
........expandNIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C (OMIM:613216)
........expandNIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A (OMIM:300071)
........expandNOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR (OMIM:607721)
........expandNOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
........expandNutritional and Metabolic Diseases (D009750) Child1518
........expandOccupational Diseases (D009784) Child28
........expandOtorhinolaryngologic Diseases (D010038) Child602
........expandOTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA (OMIM:215150)
........expandPALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL (OMIM:613000)
........expandParasitic Diseases (D010272) Child178
........expandPathological Conditions, Signs and Symptoms (D013568) Child3149
........expandPOLYDACTYLY, PREAXIAL II (OMIM:174500)
........expandPONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
........expandPROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA (OMIM:113900)
........expandPSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
........expandRENAL TUBULAR DYSGENESIS (OMIM:267430)
........expandRespiratory Tract Diseases (D012140) Child422
........expandSCAPULOPERONEAL MYOPATHY, MYH7-RELATED (OMIM:181430)
........expandSHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
........expandSkin and Connective Tissue Diseases (D017437) Child1491
........expandSPLIT-HAND/FOOT MALFORMATION 2 (OMIM:313350)
........expandSPLIT-HAND/FOOT MALFORMATION 3 (OMIM:246560)
........expandSPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
........expandSPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE (OMIM:608681)
........expandSPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE (OMIM:609813)
........expandSPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
........expandSPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
........expandStomatognathic Diseases (D009057) Child594
........expandTHROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:612304)
........expandVAN DER WOUDE SYNDROME 1, MODIFIER OF (OMIM:604547)
........expandVENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
........expandVENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2 (OMIM:611938)
........expandVENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3 (OMIM:614021)
........expandVirus Diseases (D014777) Child307
........expandVISCERAL MYOPATHY (OMIM:155310)
........expandWAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
........expandWounds and Injuries (D014947) Child274



 Sister Nodes: 
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:3399
Name:Diseases
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:C
Synonyms:
Slim Mappings:
Reference: MedGen: C
MeSH: C
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants