MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
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Diseases (C)

       Child Nodes:
........expand3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA (OMIM:616271)
........expand3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739)  LSDB  L: 00484;
........expand3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
........expandAARSKOG SYNDROME, AUTOSOMAL DOMINANT (OMIM:100050)
........expandABDOMINAL OBESITY-METABOLIC SYNDROME 1 (OMIM:605552)
........expandABDOMINAL OBESITY-METABOLIC SYNDROME 3 (OMIM:615812)
........expandACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE (OMIM:201250)
........expandALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
........expandANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
........expandAnimal Diseases (D000820) Child139
........expandARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT (OMIM:617468)
........expandASPLENIA, ISOLATED CONGENITAL (OMIM:271400)
........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)
........expandB-CELL EXPANSION WITH NFKB AND T-CELL ANERGY (OMIM:616452)
........expandBacterial Infections and Mycoses (D001423) Child620
........expandBARAITSER-WINTER SYNDROME 1 (OMIM:243310)
........expandBARAITSER-WINTER SYNDROME 2 (OMIM:614583)
........expandBRACHYDACTYLY, TYPE E1 (OMIM:113300)
........expandBREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2 (OMIM:616001)
........expandCAPILLARY MALFORMATIONS, CONGENITAL (OMIM:163000)
........expandCardiovascular Diseases (D002318) Child1025  LSDB C:12
........expandCATEL-MANZKE SYNDROME (OMIM:616145)
........expandCEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
........expandCHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (OMIM:607706)
........expandChemically-Induced Disorders (D064419) Child111  LSDB C:1
........expandCHROMOSOME 13q14 DELETION SYNDROME (OMIM:613884)
........expandCHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB (OMIM:136570)
........expandCHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
........expandCHROMOSOME 8q21.11 DELETION SYNDROME (OMIM:614230)
........expandCOENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)  LSDB  L: 00090;
........expandCOENZYME Q10 DEFICIENCY, PRIMARY, 2 (OMIM:614651)  LSDB  L: 00446;
........expandCOENZYME Q10 DEFICIENCY, PRIMARY, 3 (OMIM:614652)  LSDB  L: 00447;
........expandCOENZYME Q10 DEFICIENCY, PRIMARY, 4 (OMIM:612016)  LSDB  L: 00443;
........expandCOENZYME Q10 DEFICIENCY, PRIMARY, 5 (OMIM:614654)  LSDB  L: 00448;
........expandCOENZYME Q10 DEFICIENCY, PRIMARY, 6 (OMIM:614650)  LSDB  L: 00480;
........expandCOENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)  LSDB  L: 00639;
........expandCOENZYME Q10 DEFICIENCY, PRIMARY, 8 (OMIM:616733)  LSDB  L: 00640;
........expandCongenital, Hereditary, and Neonatal Diseases and Abnormalities (D009358) Child4904  LSDB C:68
........expandCONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
........expandCOUSIN SYNDROME (OMIM:260660)
........expandCOWDEN SYNDROME 4 (OMIM:615107)
........expandCOWDEN SYNDROME 5 (OMIM:615108)
........expandCOWDEN SYNDROME 6 (OMIM:615109)
........expandCOWDEN SYNDROME 7 (OMIM:616858)
........expandCRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME (OMIM:614195)
........expandCUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
........expandCUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
........expandCUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
........expandCUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
........expandCUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
........expandCUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
........expandD-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
........expandDEAFNESS, AUTOSOMAL RECESSIVE 101 (OMIM:615837)
........expandDEAFNESS, AUTOSOMAL RECESSIVE 18A (OMIM:602092)
........expandDEAFNESS, AUTOSOMAL RECESSIVE 26, MODIFIER OF (OMIM:605429)
........expandDEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT;DFNB36 DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT, (OMIM:609006)
........expandDEAFNESS, AUTOSOMAL RECESSIVE 8 (OMIM:601072)
........expandDigestive System Diseases (D004066) Child640  LSDB C:9
........expandDisorders of Environmental Origin (D007280) Child4
........expandDYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 (OMIM:613989)
........expandDYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
........expandDYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 (OMIM:616553)
........expandDYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 (OMIM:613987)
........expandDYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 (OMIM:613988)
........expandDYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 (OMIM:615190)
........expandDYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 (OMIM:616353)
........expandECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
........expandECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE (OMIM:225100)
........expandEHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 (OMIM:614557)
........expandEndocrine System Diseases (D004700) Child742  LSDB C:3
........expandEye Diseases (D005128) Child1278  LSDB C:19
........expandFemale Urogenital Diseases and Pregnancy Complications (D005261) Child962  LSDB C:4
........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  LSDB C:1
........expandHYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (OMIM:617021)
........expandHYPERMANGANESEMIA WITH DYSTONIA 1 (OMIM:613280)
........expandHYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
........expandHYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
........expandHYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
........expandHYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE (OMIM:145250)
........expandHYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY (OMIM:240900)
........expandHYPOTRICHOSIS 2 (OMIM:146520)
........expandHYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
........expandImmune System Diseases (D007154) Child597  LSDB C:2
........expandIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
........expandIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (OMIM:614069)
........expandIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 (OMIM:616910)
........expandIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 (OMIM:616911)
........expandKERATOSIS PILARIS ATROPHICANS (OMIM:604093)
........expandKLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:613702)
........expandL-FERRITIN DEFICIENCY (OMIM:615604)
........expandLISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)
........expandLOEYS-DIETZ SYNDROME 2 (OMIM:610168)
........expandMACULAR DEGENERATION, X-LINKED ATROPHIC (OMIM:300834)
........expandMale Urogenital Diseases (D052801) Child765  LSDB C:4
........expandMAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME (OMIM:277000)
........expandMEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION (OMIM:613926)
........expandMEGALOBLASTIC ANEMIA 1 (OMIM:261100)
........expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 (OMIM:155600)
........expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10 (OMIM:615848)
........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, 6 (OMIM:613972)
........expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7 (OMIM:612263)
........expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 (OMIM:614456)
........expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 (OMIM:615134)
........expandMental Disorders (D001523) Child1080  LSDB C:11
........expandMENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
........expandMETHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT (OMIM:613646)
........expandMICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
........expandMICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
........expandMICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458)
........expandMICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA (OMIM:251750)
........expandMITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)  LSDB  L: 00017;
........expandMITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)  LSDB  L: 00026;
........expandMITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)  LSDB  L: 00030;
........expandMITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)  LSDB  L: 00033;
........expandMITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)  LSDB  L: 00036;
........expandMITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)  LSDB  L: 00038;
........expandMUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
........expandMUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
........expandMULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (OMIM:166300)
........expandMULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
........expandMULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)  LSDB  L: 00044;
........expandMULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
........expandMULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
........expandMusculoskeletal Diseases (D009140) Child2320  LSDB C:37
........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 DUE TO MYOADENYLATE DEAMINASE DEFICIENCY (OMIM:615511)
........expandMYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED (OMIM:613869)
........expandMYOPATHY, SPHEROID BODY (OMIM:182920)
........expandMYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES (OMIM:616231)
........expandNAIL DISORDER, NONSYNDROMIC CONGENITAL, 3 (OMIM:151600)
........expandNEMALINE MYOPATHY 3;NEM3 MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, (OMIM:161800)
........expandNeoplasms (D009369) Child1125  LSDB C:1
........expandNEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES (OMIM:614199)
........expandNervous System Diseases (D009422) Child3641  LSDB C:86
........expandNESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
........expandNEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
........expandNEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)  LSDB  L: 00422;
........expandNEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 (OMIM:300894)
........expandNEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 (OMIM:615643)
........expandNOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1 (OMIM:607721)
........expandNOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
........expandNutritional and Metabolic Diseases (D009750) Child1518  LSDB C:92
........expandOccupational Diseases (D009784) Child28
........expandOGDEN SYNDROME (OMIM:300855)
........expandOtorhinolaryngologic Diseases (D010038) Child602  LSDB C:11
........expandOTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:215150)
........expandPALMOPLANTAR KERATODERMA AND WOOLLY HAIR (OMIM:616099)
........expandPALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 (OMIM:613000)
........expandPALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2 (OMIM:616400)
........expandPALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE (OMIM:615735)
........expandParasitic Diseases (D010272) Child178
........expandPathological Conditions, Signs and Symptoms (D013568) Child3149  LSDB C:40
........expandPITT-HOPKINS-LIKE SYNDROME 2 (OMIM:614325)
........expandPOLYDACTYLY, PREAXIAL II (OMIM:174500)
........expandPONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
........expandPONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
........expandPONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
........expandPONTOCEREBELLAR HYPOPLASIA, TYPE 2D (OMIM:613811)
........expandPONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
........expandPONTOCEREBELLAR HYPOPLASIA, TYPE 2F (OMIM:617026)
........expandPONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
........expandPONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
........expandPONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
........expandPONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
........expandPROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA (OMIM:113900)
........expandPSEUDO-TORCH SYNDROME 1 (OMIM:251290)
........expandPSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
........expandRENAL TUBULAR DYSGENESIS (OMIM:267430)
........expandRespiratory Tract Diseases (D012140) Child422
........expandSCAPULOPERONEAL MYOPATHY, MYH7-RELATED (OMIM:181430)
........expandSHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS (OMIM:165800)
........expandSkin and Connective Tissue Diseases (D017437) Child1491  LSDB C:2
........expandSPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE (OMIM:613672)  LSDB  L: 00083;
........expandSPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE (OMIM:614487)
........expandSPLIT-HAND/FOOT MALFORMATION 3 (OMIM:246560)
........expandSPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
........expandSPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
........expandStomatognathic Diseases (D009057) Child594
........expandTHROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS (OMIM:617441)
........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, 5, WITH OR WITHOUT MUSCLE WEAKNESS (OMIM:615441)
........expandVirus Diseases (D014777) Child307
........expandVISCERAL MYOPATHY (OMIM:155310)
........expandWAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
........expandWIEDEMANN-STEINER SYNDROME (OMIM:605130)
........expandWITTEVEEN-KOLK SYNDROME (OMIM:613406)
........expandWOOLLY HAIR, AUTOSOMAL DOMINANT (OMIM:194300)
........expandWounds and Injuries (D014947) Child274



 Sister Nodes: 
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:3753
Name:Diseases
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:C
Synonyms:
Slim Mappings:
Reference: MedGen: C
MeSH: C
OMIM:
MSeqDR LSDB:
MSeqDR has 117 matches in descendants: 00011; 00012; 00015; 00016; 00017; 00023; 00026; 00030; 00031; 00032; 00033; 00034; 00035; 00036; 00037; 00038; 00039; 00040; 00042; 00043; 00045; 00046; 00047; 00048; 00049; 00051; 00072; 00073; 00074; 00075; 00079; 00081; 00083; 00084; 00085; 00086; 00088; 00089; 00090; 00092; 00096; 00097; 00098; 00099; 00101; 00102; 00103; 00104; 00105; 00106; 00107; 00110; 00112; 00113; 00114; 00117; 00118; 00119; 00143; 00146; 00156; 00157; 00160; 00163; 00166; 00172; 00389; 00390; 00392; 00398; 00399; 00400; 00402; 00403; 00404; 00405; 00406; 00408; 00409; 00410; 00411; 00412; 00415; 00416; 00417; 00418; 00419; 00420; 00421; 00433; 00434; 00435; 00436; 00437; 00439; 00440; 00442; 00443; 00444; 00466; 00467; 00472; 00473; 00474; 00475; 00476; 00477; 00478; 00482; 00485; 00486; 00487; 00488; 00489; 00490; 00491; 00492;  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal