List of Diseases

Diseases (Gene)

17-alpha-hydroxylase/17,20-lyase deficiency ( CYP17A1)
17-beta-hydroxysteroid dehydrogenase X deficiency ( HSD17B10)
2-methylbutyrylglycinuria ( ACADSB)
3-hydroxyacyl-coa dehydrogenase deficiency ( HADHSC)
3-hydroxyisobutryl-CoA hydrolase deficiency ( HIBCH)
3-M syndrome ( CUL7)
3-Methylcrotonyl-CoA carboxylase 1 deficiency ( MCCC1)
3-Methylcrotonyl-CoA carboxylase 2 deficiency ( MCCC2)
3-Methylglutaconic aciduria type I ( AUH)
3-Methylglutaconic aciduria type III ( OPA3)
3-Methylglutaconic aciduria type V ( DNAJC19)
6-mercaptopurine sensitivity ( TPMT)
Aarskog-Scott syndrome ( FGD1)
ABCD syndrome ( EDNRB)
Abetalipoproteinemia ( MTP)
ACAD9 deficiency ( ACAD9)
Acampomelic campomelic dysplasia ( SOX9)
Achalasia-Addisonianism-Alacrimia syndrome ( AAAS)
Acheiropody ( LMBR1)
Achondrogenesis Ib ( SLC26A2)
Achondrogenesis type 1A ( TRIP11)
Achondrogenesis-hypochondrogenesis type 2 ( COL2A1)
Achondroplasia ( FGFR3)
Achromatopsia-2 ( CNGA3)
Achromatopsia-3 ( CNGB3)
Acrocallosal syndrome ( GLI3)
Acrocapitofemoral dysplasia ( IHH)
Acrodermatitis enteropathica ( SLC39A4)
Acrokeratosis verruciformis ( ATP2A2)
Acromesomelic dysplasia, Hunter-Thompson type ( GDF5)
Acromesomelic dysplasia, Maroteaux type ( NPR2)
Action myoclonus-renal failure syndrome ( SCARB2)
Acyl-CoA dehydrogenase, long chain, deficiency of ( ACADL)
Acyl-CoA dehydrogenase, medium chain, deficiency of ( ACADM)
Acyl-CoA dehydrogenase, short chain, deficiency of ( ACADS)
Adenomas, multiple colorectal ( MUTYH)
Adenomas, salivary gland pleomorphic ( PLAG1)
Adenomatous polyposis coli ( APC)
Adenosine deaminase deficiency, partial ( ADA)
Adenosine triphosphate, elevated, of erythrocytes ( PKLR)
Adenylosuccinase deficiency ( ADSL)
Adiponectin deficiency ( ADIPOQ)
Adrenal cortical carcinoma ( TP53)
Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency ( CYP11B1)
Adrenal hyperplasia, congenital, due to combined P450C17 and P450C21 deficiency ( POR)
Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism ( DAX1)
Adrenocorticotropic hormone deficiency ( TBS19)
Adrenoleukodystrophy ( ABCD1)
Adrenoleukodystrophy, neonatal ( PEX1)
Adrenoleukodystrophy, neonatal ( PEX10)
Adrenoleukodystrophy, neonatal ( PEX13)
Adrenoleukodystrophy, neonatal ( PEX26)
Adrenoleukodystrophy, neonatal ( PEX5)
Adrenomyeloneuropathy ( ABCD1)
ADULT syndrome ( TP63)
Advanced sleep phase syndrome, familial ( PER2)
Afibrinogenemia, congenital ( FGA)
Afibrinogenemia, congenital ( FGB)
Agammaglobulinemia 1 ( IGHM)
Agammaglobulinemia 2 ( IGLL1)
Agammaglobulinemia 4 ( BLNK)
Agammaglobulinemia 5 ( LRRC8A)
Agammaglobulinemia and isolated hormone deficiency ( BTK)
Agammaglobulinemia, type 1, X-linked ( BTK)
AGAT deficiency ( GATM)
Agenesis of the corpus callosum with peripheral neuropathy ( SLC12A6)
Aicardi-Goutieres syndrome 1, dominant and recessive ( TREX1)
Aicardi-Goutieres syndrome 2 ( RNASEH2B)
Aicardi-Goutieres syndrome 3 ( RNASEH2C)
Aicardi-Goutieres syndrome 4 ( RNASEH2A)
Aicardi-Goutieres syndrome 5 ( SAMHD1)
AICA-ribosiduria due to ATIC deficiency ( ATIC)
Alagille syndrome ( JAG1)
Alagille syndrome 2 ( NOTCH2)
Aland Island eye disease ( CACNA1F)
Albinism, brown ( TYRP1)
Albinism, brown oculocutaneous ( OCA2)
Albinism, oculocutaneous, type IA ( TYR)
Albinism, oculocutaneous, type IB ( TYR)
Albinism, oculocutaneous, type II ( OCA2)
Albinism, rufous ( TYRP1)
Alcohol sensitivity, acute ( ALDH2)
Aldosteronism, glucocorticoid-remediable ( CYP11B1)
Alexander disease ( GFAP)
Alexander disease ( NDUFV1)
Alkaptonuria ( HGD)
Allan-Herndon-Dudley syndrome ( SLC16A2)
Alopecia universalis ( HR)
Alopecia, neurologic defects, and endocrinopathy syndrome ( RBM28)
Alpers syndrome ( POLG)
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity ( RAG1)
Alpha-2-plasmin inhibitor deficiency ( PLI)
Alpha-ketoglutarate dehydrogenase deficiency ( OGDH)
Alpha-methylacetoacetic aciduria ( ACAT1)
Alpha-thalassemia mental retardation syndrome ( ATRX)
Alport syndrome ( COL4A5)
Alport syndrome, autosomal recessive ( COL4A3)
Alport syndrome, autosomal recessive ( COL4A4)
Alstrom syndrome ( ALMS1)
Alternating hemiplegia of childhood ( ATP1A2)
Alveolar capillary dysplasia with misalignment of pulmonary veins ( FOXF1)
Alveolar soft part sarcoma ( ASPSCR1)
Alzheimer disease 1, familial ( APP)
Alzheimer disease 6 ( AD6)
Alzheimer disease 8 ( AD8)
Alzheimer disease, late-onset, susceptibility to ( NOS3)
Alzheimer disease, type 3 ( PSEN1)
Alzheimer disease, type 3, with spastic paraparesis and apraxia ( PSEN1)
Alzheimer disease, type 3, with spastic paraparesis and unusual plaques ( PSEN1)
Alzheimer disease-10 ( AD10)
Alzheimer disease-2 ( APOE)
Alzheimer disease-4 ( PSEN2)
Alzheimer disease-5 ( AD5)
Amelogenesis imperfecta, hypomaturation type, IIA3 ( WDR72)
Amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism ( DLX3)
Amelogenesis imperfecta, hypoplastic/hypomaturation type ( AMELX)
Amelogenesis imperfecta, type 3 ( FAM83H)
Amelogenesis imperfecta, type IB ( ENAM)
Amelogenesis imperfecta, type IC ( ENAM)
Amelogenesis imperfecta, type IIA1 ( KLK4)
Amelogenesis imperfecta, type IIA2 ( MMP20)
Aminoacylase 1 deficiency ( ACY1)
Amish infantile epilepsy syndrome ( SIAT9)
Amyloidosis, 3 or more types ( APOA1)
Amyloidosis, Finnish type ( GSN)
Amyloidosis, hereditary renal ( FGA)
Amyloidosis, hereditary, transthyretin-related ( TTR)
Amyloidosis, primary localized cutaneous ( OSMR)
Amyloidosis, renal ( LYZ)
Amyotrophic lateral sclerosis 10, with or without FTD ( TARDBP)
Amyotrophic lateral sclerosis 11 ( FIG4)
Amyotrophic lateral sclerosis 4, juvenile ( SETX)
Amyotrophic lateral sclerosis 6, autosomal recessive ( FUS)
Amyotrophic lateral sclerosis 8 ( VAPB)
Amyotrophic lateral sclerosis 9 ( ANG)
Amyotrophic lateral sclerosis, due to SOD1 deficiency ( SOD1)
Amyotrophic lateral sclerosis, juvenile ( ALS2)
Amyotrophy, hereditary neuralgic (SEPT9)
Amytrophic lateral sclerosis 12 ( OPTN)
Anauxetic dysplasia ( RMRP)
Androgen insensitivity ( AR)
Androgen insensitivity, partial, with or without breast cancer ( AR)
Anemia, congenital dyserythropoietic, type I ( CDAN1)
Anemia, dyserythropoietic congenital, type II ( SEC23B)
Anemia, hemolytic, due to UMPH1 deficiency ( NT5C3)
Anemia, hemolytic, Rh-null, regulator type ( RHAG)
Anemia, hypochromic microcytic ( NRAMP2)
Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive ( GLRX5)
Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive ( SLC25A38)
Anemia, sideroblastic, with ataxia ( ABCB7)
Anemia, sideroblastic, X-linked ( ALAS2)
Angelman syndrome ( MECP2)
Angelman syndrome ( UBE3A)
Angelman syndrome-like ( CDKL5)
Angioedema, hereditary, type III ( F12)
Angioedema, hereditary, types I and II ( C1NH)
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps ( COL4A1)
Aniridia ( PAX6)
Anonychia congenita ( RSPO4)
Anterior segment mesenchymal dysgenesis ( FOXE3)
Anterior segment mesenchymal dysgenesis ( PITX3)
Antithrombin III deficiency ( AT3)
Antley-Bixler syndrome ( FGFR2)
Antley-Bixler syndrome-like with disordered steroidogenesis ( POR)
Aortic aneurysm, familial thoracic 4 ( MYH11)
Aortic aneurysm, familial thoracic 6 ( ACTA2)
Aortic valve disease ( NOTCH1)
Apert syndrome ( FGFR2)
Aphakia, congenital primary ( FOXE3)
Aplasia of lacrimal and salivary glands ( FGF10)
Aplastic anemia ( TERC)
Argininemia ( ARG1)
Argininosuccinic aciduria ( ASL)
Aromatase deficiency ( CYP19A1)
Aromatic L-amino acid decarboxylase deficiency ( DDC)
Arrhythmogenic right ventricular dysplasia 1 ( TGFB3)
Arrhythmogenic right ventricular dysplasia 2 ( RYR2)
Arrhythmogenic right ventricular dysplasia 5 ( LAMR1)
Arrhythmogenic right ventricular dysplasia 8 ( DSP)
Arrhythmogenic right ventricular dysplasia, familial, 10 ( DSG2)
Arrhythmogenic right ventricular dysplasia, familial, 11 ( DSC2)
Arrhythmogenic right ventricular dysplasia, familial, 12 ( JUP)
Arrhythmogenic right ventricular dysplasia, familial, 5 ( TMEM43)
Arrhythmogenic right ventricular dysplasia, familial, 9 ( PKP2)
Arterial calcification, generalized, of infancy ( ENPP1)
Arterial tortuosity syndrome ( SLC2A10)
Arthrogryposis multiplex congenita, distal type 1 ( TPM2)
Arthrogryposis multiplex congenita, distal type 2B ( TNNI2)
Arthrogryposis, distal, type 2A ( MYH3)
Arthrogryposis, distal, type 2B ( MYH3)
Arthrogryposis, distal, type 2B ( TPM2)
Arthrogryposis, lethal, with anterior horn cell disease ( GLE1)
Arthrogryposis, renal dysfunction, and cholestasis 1 ( VPS33B)
Arthrogryposis, renal dysfunction, and cholestasis 2 ( VIPAR)
Arthropathy, progressive pseudorheumatoid, of childhood ( WISP3)
Arthyrgryposis, distal, type 2B ( TNNT3)
Arts syndrome ( PRPS1)
Aspartylglucosaminuria ( AGA)
Asphyxiating thoracic dystrophy 2 ( IFT80)
Asphyxiating thoracic dystrophy 3 ( DYNC2H1)
Asthma and nasal polyps ( TBX21)
Ataxia with isolated vitamin E deficiency ( TTPA)
Ataxia, cerebellar, Cayman type ( ATCAY)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ( APTX)
Ataxia-ocular apraxia-2 ( SETX)
Ataxia-telangiectasia ( ATM)
Ataxia-telangiectasia-like disorder ( MRE11A)
Atelosteogenesis II ( SLC26A2)
Atelosteogenesis, type III ( FLNB)
Atelostogenesis, type I ( FLNB)
Athabaskan brainstem dysgenesis syndrome ( HOXA1)
Atopy ( SPINK5)
ATP synthase deficiency, nuclear-encoded ( ATPAF2)
Atransferrinemia ( TF)
Atrial fibrillation ( GJA5)
Atrial fibrillation, familial, 3 ( KCNQ1)
Atrial fibrillation, familial, 4 ( KCNE2)
Atrial fibrillation, familial, 6 ( NPPA)
Atrial fibrillation, familial, 7 ( KCNA5)
Atrial septal defect 4 ( TBX20)
Atrial septal defect 5 ( ACTC1)
Atrial septal defect 6 ( TLL1)
Atrial septal defect with atrioventricular conduction defects ( NKX2E)
Atrial septal defect-2 ( GATA4)
Atrichia with papular lesions ( HR)
Atrioventricular canal defect ( AVSD1)
Atrioventricular septal defect ( GJA1)
Atrioventricular septal defect, partial, with heterotaxy syndrome ( CRELD1)
Auditory neuropathy, autosomal recessive, 1 ( OTOF)
Autoimmune disease, syndromic multisystem ( ITCH)
Autoimmune lymphoproliferative syndrome, type IA ( TNFRSF6)
Autoimmune lymphoproliferative syndrome, type II ( CASP10)
Autoimmune lymphoproliferative syndrome, type IIB ( CASP8)
Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia ( AIRE)
Axenfeld-Rieger syndrome, type 1 ( PITX2)
Axenfeld-Rieger syndrome, type 3 ( FOXC1)
Azoospermia ( USP9Y)
Azoospermia due to perturbations of meiosis ( SYCP3)
Baller-Gerold syndrome ( RECQL4)
Bamforth-Lazarus syndrome ( FOXE1)
Bannayan-Riley-Ruvalcaba syndrome ( PTEN)
Bardet-Biedl syndrome 1 ( BBS1)
Bardet-Biedl syndrome 10 ( BBS10)
Bardet-Biedl syndrome 11 ( TRIM32)
Bardet-Biedl syndrome 12 ( BBS12)
Bardet-Biedl syndrome 13 ( MKS1)
Bardet-Biedl syndrome 14 ( CEP290)
Bardet-Biedl syndrome 15 ( C2orf86)
Bardet-Biedl syndrome 2 ( BBS2)
Bardet-Biedl syndrome 3 ( ARL6)
Bardet-Biedl syndrome 4 ( BBS4)
Bardet-Biedl syndrome 5 ( BBS5)
Bardet-Biedl syndrome 6 ( MKKS)
Bardet-Biedl syndrome 7 ( BBS7)
Bardet-Biedl syndrome 8 ( TTC8)
Bardet-Biedl syndrome 9 ( PTHB1)
Bare lymphocyte syndrome, type I ( TAP1)
Bare lymphocyte syndrome, type I ( TAPBP)
Bare lymphocyte syndrome, type I, due to TAP2 deficiency ( TAP2)
Bare lymphocyte syndrome, type II, complementation group A ( MHC2TA)
Bare lymphocyte syndrome, type II, complementation group C ( RFX5)
Bare lymphocyte syndrome, type II, complementation group D ( RFXAP)
Bare lymphocyte syndrome, type II, complementation group E ( RFX5)
Barth syndrome ( TAZ)
Bart-Pumphrey syndrome ( GJB2)
Bartter syndrome, type 1 ( SLC12A1)
Bartter syndrome, type 2 ( KCNJ1)
Bartter syndrome, type 3 ( CLCNKB)
Bartter syndrome, type 4, digenic ( CLCNKB)
Bartter syndrome, type 4a ( BSND)
Bartter syndrome, type 4b, digenic ( CLCNKA)
Beare-Stevenson cutis gyrata syndrome ( FGFR2)
Becker muscular dystrophy ( DMD)
Beckwith-Wiedemann syndrome ( CDKN1C)
Beckwith-Wiedemann syndrome ( H19)
Beckwith-Wiedemann syndrome ( KCNQ10T1)
Beckwith-Wiedemann syndrome ( NSD1)
Bernard-Soulier syndrome, benign autosomal dominant ( GP1BA)
Bernard-Soulier syndrome, type A ( GP1BA)
Bernard-Soulier syndrome, type B ( GP1BB)
Bernard-Soulier syndrome, type C ( GP9)
Best macular dystrophy ( BEST1)
Bestrophinopathy ( BEST1)
Beta-ureidopropionase deficiency ( UPB1)
Bethlem myopathy ( COL6A1)
Bethlem myopathy ( COL6A2)
Bethlem myopathy ( COL6A3)
Bietti crystalline corneoretinal dystrophy ( CYP4V2)
Bifid nose with or without anorectal and renal anomalies ( FREM1)
Bile acid malabsorption, primary ( SLC10A2)
Bile acid synthesis defect, congenital, 2 ( AKR1D1)
Bile acid synthesis defect, congenital, 4 ( AMACR)
Biotinidase deficiency ( BTD)
Birk-Barel mental retardation dysmorphism syndrome ( KCNK9)
Birt-Hogg-Dube syndrome ( FLCN)
Bjornstad syndrome ( BCS1L)
Bladder cancer ( KRAS)
Bladder cancer ( RB1)
Blau syndrome ( NOD2)
Bleeding disorder due to P2RY12 defect ( P2RY12)
Blepharophimosis, epicanthus inversus, and ptosis, type 1 ( FOXL2)
Blepharophimosis, epicanthus inversus, and ptosis, type 2 ( FOXL2)
Blood group–Lutheran inhibitor ( KLF1)
Bloom syndrome ( RECQL3)
Blue cone monochromacy ( OPN1MW)
Blue-cone monochromacy ( OPN1LW)
Boomerang dysplasia ( FLNB)
Borjeson-Forssman-Lehmann syndrome ( PHF6)
Bosley-Salih-Alorainy syndrome ( HOXA1)
Bothnia retinal dystrophy ( RLBP1)
Bowen-Conradi syndrome ( EMG1)
Brachiootic syndrome 3 ( SIX1)
Brachydactyly type A1 ( BDA1B)
Brachydactyly type A1 ( IHH)
Brachydactyly type A2 ( BMPR1B)
Brachydactyly type A2 ( GDF5)
Brachydactyly type B1 ( ROR2)
Brachydactyly type B2 ( NOG)
Brachydactyly type C ( GDF5)
Brachydactyly type D ( HOXD13)
Brachydactyly type E ( HOXD13)
Brachydactyly type E2 ( PTHLH)
Brachydactyly-syndactyly syndrome ( HOXD13)
Brachyolmia type 3 ( TRPV4)
Bradyopsia ( RGS9)
Bradyopsia ( RGS9BP)
Brain small vessel disease with Axenfeld-Rieger anomaly ( COL4A1)
Brain small vessel disease with hemorrhage ( COL4A1)
Branchiooculofacial syndrome ( TFAP2A)
Branchiootorenal syndrome ( EYA1)
Branchiootorenal syndrome 2 ( SIX5)
Branchiootorenal syndrome with cataract ( EYA1)
Breast cancer ( TP53)
Breast cancer, early-onset ( BRIP1)
Brittle cornea syndrome ( ZNF469)
Brody myopathy ( ATP2A1)
Bronchiectasis with or without elevated sweat chloride 1 ( SCNN1B)
Bronchiectasis with or without elevated sweat chloride 2 ( SCNN1A)
Bronchiectasis with or without elevated sweat chloride 3 ( SCNN1G)
Brooke-Spiegler syndrome ( CYLD1)
Brown-Vialetto-Van Laere syndrome ( C20orf54)
Bruck syndrome 2 ( PLOD2)
Brugada syndrome 1 ( SCN5A)
Brugada syndrome 2 ( GPD1L)
Brugada syndrome 3 ( CACNA1C)
Brugada syndrome 4 ( CACNB2)
Brugada syndrome 5 ( SCN1B)
Brugada syndrome 6 ( KCNE3)
Brugada syndrome 7 ( SCN3B)
Brugada syndrome 8 ( HCN4)
Brunner syndrome ( MAOA)
Burkitt lymphoma ( MYC)
Buschke-Ollendorff syndrome ( LEMD3)
C syndrome ( CD96)
C5 deficiency ( C5)
C6 deficiency ( C6)
C7 deficiency ( C7)
Caffey disease ( COL1A1)
Campomelic dysplasia ( SOX9)
Campomelic dysplasia with autosomal sex reversal ( SOX9)
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome ( PRG4)
Camurati-Engelmann disease ( TGFB1)
Canavan disease ( ASPA)
Candidiasis, familial chronic mucocutaneous, autosomal dominant ( CLEC7A)
Candidiasis, familial chronic mucocutaneous, autosomal recessive ( CARD9)
Capillary malformation-arteriovenous malformation ( RASA1)
Carbamoyl phosphate synthetase I deficiency ( CPS1)
Carbohydrate-deficient glycoprotein syndrome, type Ib ( MPI)
Carboxypeptidase N deficiency ( CPN1)
Carcinoid tumors, intestinal ( SDHD)
Cardiac arrhythmia, ankyrin-B-related ( ANK2)
Cardiac conduction defect, nonspecific ( SCN1B)
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency ( SCO2)
Cardiofaciocutaneous syndrome ( BRAF)
Cardiofaciocutaneous syndrome ( KRAS)
Cardiofaciocutaneous syndrome ( MAP2K1)
Cardiofaciocutaneous syndrome ( MAP2K2)
Cardiomyopathy, dilated ( MYBPC3)
Cardiomyopathy, dilated 1C ( LDB3)
Cardiomyopathy, dilated, 1A ( LMNA)
Cardiomyopathy, dilated, 1AA ( ACTN2)
Cardiomyopathy, dilated, 1BB ( DSG2)
Cardiomyopathy, dilated, 1CC ( NEXN)
Cardiomyopathy, dilated, 1D ( TNNT2)
Cardiomyopathy, dilated, 1DD ( RBM20)
Cardiomyopathy, dilated, 1E ( SCN5A)
Cardiomyopathy, dilated, 1EE ( MYH6)
Cardiomyopathy, dilated, 1FF ( TNNI3)
Cardiomyopathy, dilated, 1G ( TTN)
Cardiomyopathy, dilated, 1GG ( SDHA)
Cardiomyopathy, dilated, 1I ( DES)
Cardiomyopathy, dilated, 1J ( EYA4)
Cardiomyopathy, dilated, 1L ( SGCD)
Cardiomyopathy, dilated, 1M ( CSRP3)
Cardiomyopathy, dilated, 1N ( TCAP)
Cardiomyopathy, dilated, 1O ( ABCC9)
Cardiomyopathy, dilated, 1P ( PLN)
Cardiomyopathy, dilated, 1R ( ACTC1)
Cardiomyopathy, dilated, 1S ( MYH7)
Cardiomyopathy, dilated, 1W ( VCL)
Cardiomyopathy, dilated, 1X ( FKTN)
Cardiomyopathy, dilated, 1Y ( TPM1)
Cardiomyopathy, dilated, 1Z ( TNNC1)
Cardiomyopathy, dilated, 2A ( TNNI3)
Cardiomyopathy, dilated, 3A ( TAZ)
Cardiomyopathy, dilated, 3B ( DMD)
Cardiomyopathy, familial hypertrophic ( CAV3)
Cardiomyopathy, familial hypertrophic ( SLC25A4)
Cardiomyopathy, familial hypertrophic, 1 ( MYH7)
Cardiomyopathy, familial hypertrophic, 10 ( MYL2)
Cardiomyopathy, familial hypertrophic, 11 ( ACTC1)
Cardiomyopathy, familial hypertrophic, 12 ( CSRP3)
Cardiomyopathy, familial hypertrophic, 13 ( TNNC1)
Cardiomyopathy, familial hypertrophic, 14 ( MYH6)
Cardiomyopathy, familial hypertrophic, 15 ( VCL)
Cardiomyopathy, familial hypertrophic, 2 ( TNNT2)
Cardiomyopathy, familial hypertrophic, 3 ( TPM1)
Cardiomyopathy, familial hypertrophic, 4 ( MYBPC3)
Cardiomyopathy, familial hypertrophic, 8 ( MYL3)
Cardiomyopathy, familial restrictive ( TNNI3)
Cardiomyopathy, familial restrictive, 3 ( TNNT2)
Cardiomyopathy, hypertrophic 6, with WPW ( PRKAG2)
Cardiomyopathy, hypertrophic, midventricular, digenic ( MYLK2)
Carney complex variant ( MYH8)
Carney complex, type 1 ( PRKAR1A)
Carnitine deficiency, systemic primary ( SLC22A5)
Carotid intimal medial thickness 1 ( PPARG)
Carpal tunnel syndrome, familial ( TTR)
Carpenter syndrome ( RAB23)
Cartilage-hair hypoplasia ( RMRP)
Cataract with late-onset corneal dystrophy ( PAX6)
Cataract, autosomal dominant, multiple types 1 ( BFSP2)
Cataract, cerulean, type 2 ( CRYBB2)
Cataract, congenital ( BFSP2)
Cataract, congenital nuclear, 2 ( CRYBB3)
Cataract, congenital nuclear, autosomal recessive 3 ( CRYBB1)
Cataract, congenital zonular, with sutural opacities ( CRYBA1)
Cataract, congenital, cerulean type, 3 ( CRYGD)
Cataract, congenital, X-linked ( NHS)
Cataract, Coppock-like ( CRYBB2)
Cataract, Coppock-like ( CRYGC)
Cataract, cortical, juvenile-onset ( BFSP1)
Cataract, crystalline aculeiform ( CRYGD)
Cataract, juvenile, with microcornea and glucosuria ( SLC16A12)
Cataract, juvenile-onset ( BFSP2)
Cataract, lamellar ( HSF4)
Cataract, lamellar 2 ( CRYBA4)
Cataract, Marner type ( HSF4)
Cataract, nonnuclear polymorphic congenital ( CRYGD)
Cataract, polymorphic and lamellar ( MIP)
Cataract, posterior polar, 1 ( EPHA2)
Cataract, posterior polar, 3 ( CHMP4B)
Cataract, posterior polar, 4 ( PITX3)
Cataract, posterior polar, 4, syndromic ( PITX3)
Cataract, sutural, with punctate and cerulean opacities ( CRYBB2)
Cataract, zonular pulverulent-1 ( GJA8)
Cataract, zonular pulverulent-3 ( GJA3)
Cataract-microcornea syndrome ( GJA8)
CATSHL syndrome ( FGFR3)
Caudal duplication anomaly ( AXIN1)
Caudal regression syndrome ( VANGL1)
Cavernous malformations of CNS and retina ( CCM1)
CD59 deficiency ( CD59)
CD8 deficiency, familial ( CD8A)
Cenani-Lenz syndactyly syndrome ( LRP4)
Central core disease ( RYR1)
Central hypoventilation syndrome ( GDNF)
Central hypoventilation syndrome, congenital ( ASCL1)
Central hypoventilation syndrome, congenital ( BDNF)
Central hypoventilation syndrome, congenital ( EDN3)
Central hypoventilation syndrome, congenital ( PMX2B)
Central hypoventilation syndrome, congenital ( RET)
Cerebellar ataxia ( CP)
Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 ( CA8)
Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 ( VLDLR)
Cerebral amyloid angiopathy ( CST3)
Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants ( APP)
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy ( NOTCH3)
Cerebral cavernous malformations 3 ( PDCD10)
Cerebral cavernous malformations-1 ( CCM1)
Cerebral cavernous malformations-2 ( C7orf22)
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome ( SNAP29)
Cerebral palsy, spastic quadriplegic ( KANK1)
Cerebral palsy, spastic quadriplegic, 3 ( AP4M1)
Cerebral palsy, spastic, symmetric, autosomal recessive ( GAD1)
Cerebrocostomandibular-like syndrome ( COG1)
Cerebrooculofacioskeletal syndrome 1 ( ERCC6)
Cerebrooculofacioskeletal syndrome 2 ( ERCC2)
Cerebrooculofacioskeletal syndrome 4 ( ERCC1)
Cerebrotendinous xanthomatosis ( CYP27A1)
Ceroid lipofuscinosis, neuronal 1, infantile ( PPT1)
Ceroid lipofuscinosis, neuronal 3, juvenile ( CLN3)
Ceroid lipofuscinosis, neuronal 8 ( CLN8)
Ceroid lipofuscinosis, neuronal, 10 ( CTSD)
Ceroid lipofuscinosis, neuronal, 7 ( MFSD8)
Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant ( CLN8)
Ceroid-lipofuscinosis, neuronal 2, classic late infantile ( TPP1)
Ceroid-lipofuscinosis, neuronal-5, variant late infantile ( CLN5)
Ceroid-lipofuscinosis, neuronal-6, variant late infantile ( CLN6)
Chanarin-Dorfman syndrome ( ABHD5)
Char syndrome ( TFAP2B)
Charcot-Marie-Tooth disease type 1A ( PMP22)
Charcot-Marie-Tooth disease type 1B ( MPZ)
Charcot-Marie-Tooth disease type 1C ( LITAF)
Charcot-Marie-Tooth disease type 1D ( EGR2)
Charcot-Marie-Tooth disease type 1E ( PMP22)
Charcot-Marie-Tooth disease type 1F ( NEFL)
Charcot-Marie-Tooth disease type 2A1 ( KIF1B)
Charcot-Marie-Tooth disease type 2A2 ( MFN2)
Charcot-Marie-Tooth disease type 2B ( RAB7)
Charcot-Marie-Tooth disease type 2B1 ( LMNA)
Charcot-Marie-Tooth disease type 2B2 ( MED25)
Charcot-Marie-Tooth disease type 2D ( GARS)
Charcot-Marie-Tooth disease type 2E ( NEFL)
Charcot-Marie-Tooth disease type 2I ( MPZ)
Charcot-Marie-Tooth disease type 2J ( MPZ)
Charcot-Marie-Tooth disease type 4A ( GDAP1)
Charcot-Marie-Tooth disease type 4B1 ( MTMR2)
Charcot-Marie-Tooth disease type 4B2 ( SBF2)
Charcot-Marie-Tooth disease type 4C ( SH3TC2)
Charcot-Marie-Tooth disease type 4D ( NDRG1)
Charcot-Marie-Tooth disease type 4F ( PRX)
Charcot-Marie-Tooth disease type 4H ( FGD4)
Charcot-Marie-Tooth disease type 4J ( FIG4)
Charcot-Marie-Tooth disease, axonal, type 2F ( HSPB1)
Charcot-Marie-Tooth disease, axonal, type 2K ( GDAP1)
Charcot-Marie-Tooth disease, axonal, type 2L ( HSPB8)
Charcot-Marie-Tooth disease, axonal, type 2M ( DNM2)
Charcot-Marie-Tooth disease, axonal, type 2N ( AARS)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis ( GDAP1)
Charcot-Marie-Tooth disease, dominant intermediate 3 ( MPZ)
Charcot-Marie-Tooth disease, dominant intermediate B ( DNM2)
Charcot-Marie-Tooth disease, dominant intermediate C ( YARS)
Charcot-Marie-Tooth disease, recessive intermediate, A ( GDAP1)
Charcot-Marie-Tooth disease, recessive intermediate, B ( KARS)
Charcot-Marie-Tooth disease, X-linked recessive, 5 ( PRPS1)
Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 ( GJB1)
CHARGE syndrome ( CHD7)
CHARGE syndrome ( SEMA3E)
Chediak-Higashi syndrome ( CHS1)
Cherubism ( SH3BP2)
Chilblain lupus ( TREX1)
CHILD syndrome ( NSDHL)
Chloride diarrhea, congenital, Finnish type ( SLC26A3)
Cholestasis, benign recurrent intrahepatic ( ATP8B1)
Cholestasis, benign recurrent intrahepatic, 2 ( ABCB11)
Cholestasis, familial intrahepatic, of pregnancy ( ABCB4)
Cholestasis, progressive familial intrahepatic 1 ( ATP8B1)
Cholestasis, progressive familial intrahepatic 2 ( ABCB11)
Cholestasis, progressive familial intrahepatic 3 ( ABCB4)
Cholestasis, progressive familial intrahepatic 4 ( HSD3B7)
Cholesteryl ester storage disease ( LIPA)
Chondrocalcinosis 2 ( ANKH)
Chondrodysplasia punctata, rhizomelic, type 2 ( GNPAT)
Chondrodysplasia punctata, X-linked dominant ( EBP)
Chondrodysplasia punctata, X-linked recessive ( ARSE)
Chondrodysplasia, Blomstrand type ( PTHR1)
Chondrodysplasia, Grebe type ( GDF5)
Chondrosarcoma ( EXT1)
Chondrosarcoma, extraskeletal myxoid ( TAF15)
Chondrosarcoma, extraskeletal myxoid ( TFG)
Chondrosarcoma, extraskeletal myxoid ( CSMF)
Chorea, hereditary benign ( NKX2-1)
Choreoacanthocytosis ( VPS13A)
Choreoathetosis, hypothyroidism, and neonatal respiratory distress ( NKX2-1)
Choriodal dystrophy, central areolar 2, ( PRPH2)
Choroid plexus papilloma ( TP53)
Choroideremia ( CHM)
Chrondrodysplasia, acromesomelic, with genital anomalies ( BMPR1B)
Chronic granulomatous disease due to deficiency of NCF-1 ( NCF1)
Chronic granulomatous disease due to deficiency of NCF-2 ( NCF2)
Chronic granulomatous disease, autosomal, due to deficiency of CYBA ( CYBA)
Chronic granulomatous disease, X-linked ( CYBB)
Chylomicron retention disease ( SAR1B)
Ciliary dyskinesia, primary, 1, with or without situs inversus ( DNAI1)
Ciliary dyskinesia, primary, 10 ( KTU)
Ciliary dyskinesia, primary, 11 ( RSPH4A)
Ciliary dyskinesia, primary, 12 ( RSPH9)
Ciliary dyskinesia, primary, 13 ( LRRC50)
Ciliary dyskinesia, primary, 3, with or without situs inversus ( DNAH5)
Ciliary dyskinesia, primary, 6 ( TXNDC3)
Ciliary dyskinesia, primary, 7, with or without situs inversus ( DNAH11)
Ciliary dyskinesia, primary, 9, with or without situs inversus ( DNAI2)
CINCA syndrome ( NLRP3)
Cirrhosis, North American Indian childhood type ( CIRH1A)
Citrullinemia ( ASS1)
Citrullinemia, adult-onset type II ( SLC25A13)
Citrullinemia, type II, neonatal-onset ( SLC25A13)
Cleft lip/palate-ectodermal dysplasia syndrome ( HVEC)
Cleft palate and mental retardation ( SATB2)
Cleft palate with ankyloglossia ( TBX22)
Cleidocranial dysplasia ( RUNX2)
C-like syndrome ( CD96)
Clopidogrel, impaired responsiveness to ( CYP2C)
Clubfoot, congenital ( PITX1)
COACH syndrome ( CC2D2A)
COACH syndrome ( RPGRIP1L)
COACH syndrome ( TMEM67)
Cockayne syndrome type A ( ERCC8)
Cockayne syndrome type B ( ERCC6)
Cocoon syndrome ( CHUK)
Coenzyme Q10 deficiency ( APTX)
Coenzyme Q10 deficiency ( CABC1)
Coenzyme Q10 deficiency ( COQ2)
Coenzyme Q10 deficiency ( COQ9)
Coenzyme Q10 deficiency ( PDSS1)
Coenzyme Q10 deficiency ( PDSS2)
Coffin-Lowry syndrome ( RPS6KA3)
Cohen syndrome ( COH1)
Cold-induced autoinflammatory syndrome, familial ( NLRP3)
Cold-induced sweating syndrome ( CRLF1)
Cold-induced sweating syndrome 1 ( CLCF1)
Coloboma of optic nerve ( PAX6)
Coloboma, ocular ( PAX6)
Coloboma, ocular ( SHH)
Colorblindness, deutan ( OPN1MW)
Colorblindness, tritan ( OPN1SW)
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas ( MUTYH)
Colorectal cancer ( NRAS)
Colorectal cancer ( TP53)
Colorectal cancer, hereditary nonpolyposis, type 1 ( MSH2)
Colorectal cancer, hereditary nonpolyposis, type 2 ( MLH1)
Colorectal cancer, hereditary nonpolyposis, type I ( EPCAM)
Combined oxidative phosphorylation deficiency 2 ( MRPS16)
Combined oxidative phosphorylation deficiency 3 ( TSFM)
Combined oxidative phosphorylation deficiency 4 ( TUFM)
Combined oxidative phosphorylation deficiency 5 ( MRPS22)
Combined oxidative phosphorylation deficiency 6 ( AIFM1)
Combined SAP deficiency ( PSAP)
Complement component 4, partial deficiency of ( C1NH)
Complement factor H deficiency ( HF1)
Complement factor I deficiency ( CFI)
Complex I, mitochondrial respiratory chain, deficiency of ( NDUFS6)
Cone dystrophy 4 ( PDE6C)
Cone dystrophy-3 ( GUCA1A)
Cone-rod dystrophy ( GUCY2D)
Cone-rod dystrophy 10 ( SEMA4A)
Cone-rod dystrophy 11 ( RAXL1)
Cone-rod dystrophy 12 ( PROM1)
Cone-rod dystrophy 13 ( RPGRIP1)
Cone-rod dystrophy 14 ( GUCA1A)
Cone-rod dystrophy 15 ( CDHR1)
Cone-rod dystrophy 3 ( ABCA4)
Cone-rod dystrophy 5 ( PITPNM3)
Cone-rod dystrophy 7 ( RIMS1)
Cone-rod dystrophy 9 ( ADAM9)
Cone-rod dystrophy, X-linked, 3 ( CACNA1F)
Cone-rod dystrophy-1 ( RPGR)
Cone-rod retinal dystrophy-2 ( CRX)
Congenital bilateral absence of vas deferens ( CFTR)
Congenital cataracts, facial dysmorphism, and neuropathy ( CTDP1)
Congenital disorder of glycosylation type IIc ( SLC35C1)
Congenital disorder of glycosylation, type Ia ( PMM2)
Congenital disorder of glycosylation, type Ic ( ALG6)
Congenital disorder of glycosylation, type Id ( ALG3)
Congenital disorder of glycosylation, type Ie ( DPM1)
Congenital disorder of glycosylation, type If ( MPDU1)
Congenital disorder of glycosylation, type Ig ( ALG12)
Congenital disorder of glycosylation, type Ih ( ALG8)
Congenital disorder of glycosylation, type Ii ( ALG2)
Congenital disorder of glycosylation, type IIA ( MGAT2)
Congenital disorder of glycosylation, type IIb ( GCS1)
Congenital disorder of glycosylation, type IId ( B4GALT1)
Congenital disorder of glycosylation, type IIe ( COG7)
Congenital disorder of glycosylation, type IIf ( SLC35A1)
Congenital disorder of glycosylation, type IIg ( COG1)
Congenital disorder of glycosylation, type IIh ( COG8)
Congenital disorder of glycosylation, type IIj ( COG4)
Congenital disorder of glycosylation, type Ij ( DPAGT2)
Congenital disorder of glycosylation, type Ik ( ALG1)
Congenital disorder of glycosylation, type Il ( ALG9)
Congenital disorder of glycosylation, type Im ( TMEM15)
Congenital disorder of glycosylation, type In ( RFT1)
Congenital disorder of glycosylation, type Io ( DPM3)
Congenital disorder of glycosylation, type Ip ( SRD5A3)
Congenital heart defects, nonsyndromic, 1, X-linked ( ZIC3)
Congenital heart disease, nonsyndromic, 2 ( TAB2)
Conjunctivitis, ligneous ( PLG)
Conotruncal anomaly face syndrome ( TBX1)
Contractural arachnodactyly, congenital ( FBN2)
Convulsions, benign familial infantile, 3 ( SCN2A1)
Convulsions, familial febrile, 4 ( GPR98)
COPD, rate of decline of lung function in ( MMP1)
Coproporphyria ( CPOX)
Cornea plana congenita, recessive ( KERA)
Corneal dystrophy polymorphous posterior, 2 ( COL8A2)
Corneal dystrophy, Avellino type ( TGFBI)
Corneal dystrophy, congenital stromal ( DCN)
Corneal dystrophy, crystalline, of Schnyder ( UBIAD1)
Corneal dystrophy, epithelial basement membrane ( TGFBI)
Corneal dystrophy, Fuchs endothelial, 1 ( COL8A2)
Corneal dystrophy, Fuchs endothelial, 4 ( SLC4A11)
Corneal dystrophy, Fuchs endothelial, 6 ( ZEB1)
Corneal dystrophy, gelatinous drop-like ( TACSTD2)
Corneal dystrophy, Groenouw type I ( TGFBI)
Corneal dystrophy, hereditary polymorphous posterior ( VSX1)
Corneal dystrophy, lattice type I ( TGFBI)
Corneal dystrophy, lattice type IIIA ( TGFBI)
Corneal dystrophy, posterior polymorphous, 3 ( ZEB1)
Corneal dystrophy, Reis-Bucklers type ( TGFBI)
Corneal dystrophy, Thiel-Behnke type ( TGFBI)
Corneal endothelial dystrophy 2 ( SLC4A11)
Corneal endothelial dystrophy and perceptive deafness ( SLC4A11)
Corneal fleck dystrophy ( PIKFYVE)
Cornelia de Lange syndrome 1 ( NIPBL)
Cornelia de Lange syndrome 2 ( DXS423E)
Cornelia de Lange syndrome 3 ( CSPG6)
Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia ( IGBP1)
Corpus callosum, partial agenesis of ( L1CAM)
Cortical dysplasia-focal epilepsy syndrome ( CNTNAP2)
Corticosteroid-binding globulin deficiency ( CBG)
Cortisone reductase deficiency ( H6PD)
Cortisone reductase deficiency ( HSD11B1)
Costello syndrome ( HRAS)
Coumarin resistance ( CYP2A6)
Cousin syndrome ( TBX15)
Cowden disease ( PTEN)
Cowden-like syndrome ( SDHB)
Cowden-like syndrome ( SDHD)
CPT deficiency, hepatic, type IA ( CPT1A)
CPT deficiency, hepatic, type II ( CPT2)
CPT II deficiency, lethal neonatal ( CPT2)
Cranioectodermal dysplasia ( IFT122)
Craniofacial-deafness-hand syndrome ( PAX3)
Craniofrontonasal dysplasia ( EFNB1)
Cranio-lenticulo-sutural dysplasia ( SEC23A)
Craniometaphyseal dysplasia ( ANKH)
Cranioosteoarthropathy ( HPGD)
Craniosynostosis, type 1 ( TWIST1)
Craniosynostosis, type 2 ( MSX2)
CRASH syndrome ( L1CAM)
Creatine deficiency syndrome, X-linked ( SLC6A8)
Creatine phosphokinase, elevated serum ( CAV3)
Creutzfeldt-Jakob disease ( PRNP)
Crigler Najjar syndrome type I ( UGT1A1)
Crigler Najjar syndrome type II ( UGT1A1)
Crisponi syndrome ( CRLF1)
Crouzon syndrome ( FGFR2)
Crouzon syndrome with acanthosis nigricans ( FGFR3)
Cryptorchidism, bilateral ( LGR8)
Cryptorchidism, idiopathic ( INSL3)
Currarino syndrome ( MNX1)
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities ( LTBP4)
Cutis laxa, AD ( ELN)
Cutis laxa, autosomal dominant ( FBLN5)
Cutis laxa, autosomal recessive ( FBLN5)
Cutis laxa, autosomal recessive, type I ( EFEMP2)
Cutis laxa, autosomal recessive, type II ( ATP6V0A2)
Cutis laxa, autosomal recessive, type IIB ( PYCR1)
Cutis laxa, recessive, type I ( LOX)
Cylindromatosis, familial ( CYLD1)
Cystathioninuria ( CTH)
Cystic fibrosis ( CFTR)
Cystinosis, late-onset juvenile or adolescent nephropathic ( CTNS)
Cystinosis, nephropathic ( CTNS)
Cystinosis, ocular nonnephropathic ( CTNS)
Cystinuria ( SLC3A1)
Cystinuria ( SLC7A9)
Cytochrome C oxidase deficiency ( COX6B1)
D-2-hydroxyglutaric aciduria ( D2HGDH)
Dandy-Walker malformation ( ZIC1)
Dandy-Walker malformation ( ZIC4)
Darier disease ( ATP2A2)
Darsun syndrome ( G6PC3)
D-bifunctional protein deficiency ( HSD17B4)
De la Chapelle dysplasia ( SLC26A2)
De Sanctis-Cacchione syndrome ( ERCC6)
Deafness, autosomal dominant 1 ( DIAPH1)
Deafness, autosomal dominant 10 ( EYA4)
Deafness, autosomal dominant 11, neurosensory ( MYO7A)
Deafness, autosomal dominant 13 ( COL11A2)
Deafness, autosomal dominant 15 ( POU4F3)
Deafness, autosomal dominant 17 ( MYH9)
Deafness, autosomal dominant 20/26 ( ACTG1)
Deafness, autosomal dominant 22 ( MYO6)
Deafness, autosomal dominant 23 ( SIX1)
Deafness, autosomal dominant 25 ( SLC17A8)
Deafness, autosomal dominant 28 ( GRHL2)
Deafness, autosomal dominant 2A ( KCNQ4)
Deafness, autosomal dominant 2B ( GJB3)
Deafness, autosomal dominant 36 ( TMC1)
Deafness, autosomal dominant 36, with dentinogenesis ( DSPP)
Deafness, autosomal dominant 3A ( GJB2)
Deafness, autosomal dominant 3B ( GJB6)
Deafness, autosomal dominant 4 ( MYH14)
Deafness, autosomal dominant 44 ( CCDC50)
Deafness, autosomal dominant 48 ( MYO1A)
Deafness, autosomal dominant 5 ( DFNA5)
Deafness, autosomal dominant 50 ( MIR96)
Deafness, autosomal dominant 8/12 ( TECTA)
Deafness, autosomal dominant 9 ( COCH)
Deafness, autosomal recessive 10, congenital ( TMPRSS3)
Deafness, autosomal recessive 12 ( CDH23)
Deafness, autosomal recessive 16 ( STRC)
Deafness, autosomal recessive 18 ( USH1C)
Deafness, autosomal recessive 1A ( GJB2)
Deafness, autosomal recessive 1B ( GJB6)
Deafness, autosomal recessive 2, neurosensory ( MYO7A)
Deafness, autosomal recessive 21 ( TECTA)
Deafness, autosomal recessive 22 ( OTOA)
Deafness, autosomal recessive 23 ( PCDH15)
Deafness, autosomal recessive 25 ( GRXCR1)
Deafness, autosomal recessive 28 ( TRIOBP)
Deafness, autosomal recessive 3 ( MYO15A)
Deafness, autosomal recessive 30 ( MYO3A)
Deafness, autosomal recessive 31 ( WHRN)
Deafness, autosomal recessive 35 ( ESRRB)
Deafness, autosomal recessive 36 ( ESPN)
Deafness, autosomal recessive 37 ( MYO6)
Deafness, autosomal recessive 39 ( HGF)
Deafness, autosomal recessive 49 ( MARVELD2)
Deafness, autosomal recessive 53 ( COL11A2)
Deafness, autosomal recessive 59 ( PJVK)
Deafness, autosomal recessive 6 ( TMIE)
Deafness, autosomal recessive 63 ( LRTOMT)
Deafness, autosomal recessive 67 ( LHFPL5)
Deafness, autosomal recessive 7 ( TMC1)
Deafness, autosomal recessive 77 ( LOXHD1)
Deafness, autosomal recessive 79 ( TPRN)
Deafness, autosomal recessive 8, childhood onset ( TMPRSS3)
Deafness, autosomal recessive 84 ( PTPRQ)
Deafness, autosomal recessive 9 ( OTOF)
Deafness, autosomal recessive 91 ( SERPINB6)
Deafness, autosomal recessive, 24 ( RDX)
Deafness, congenital with inner ear agenesis, microtia, and microdontia ( FGF3)
Deafness, digenic GJB2/GJB6 ( GJB6)
Deafness, digenic, GJB2/GJB3 ( GJB3)
Deafness, sensorineural, with hypertrophic cardiomyopathy ( MYO6)
Deafness, X-linked 1 ( PRPS1)
Deafness, X-linked 2 ( POU3F4)
Dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema ( DHS)
Dejerine-Sottas disease ( PMP22)
Dejerine-Sottas neuropathy ( EGR2)
Dejerine-Sottas neuropathy, autosomal recessive ( PRX)
Dejerine-Sottas syndrome ( MPZ)
Dementia, familial British ( ITM2B)
Dementia, familial Danish ( ITM2B)
Dementia, familial, nonspecific ( CHMP2B)
Dementia, frontotemporal ( PSEN1)
Dementia, frontotemporal, with or without parkinsonism ( MAPT)
Dementia, Lewy body ( SNCA)
Dementia, Lewy body ( SNCB)
Dent disease ( CLCN5)
Dent disease 2 ( OCRL)
Dentatorubropallidoluysian atrophy ( ATN1)
Dentin dysplasia, type II ( DSPP)
Dentinogenesis imperfecta, Shields type II ( DSPP)
Dentinogenesis imperfecta, Shields type III ( DSPP)
Denys-Drash syndrome ( WT1)
Dermatopathia pigmentosa reticularis ( KRT14)
Desbuquois dysplasia ( CANT1)
Desmoid disease, hereditary ( APC)
Desmosterolosis ( DHCR24)
Diabetes insipidus, nephrogenic ( AQP2)
Diabetes insipidus, nephrogenic ( AVPR2)
Diabetes insipidus, neurohypophyseal ( AVP)
Diabetes mellitus type II ( AKT2)
Diabetes mellitus, gestational ( GCK)
Diabetes mellitus, insulin-dependent, 2 ( INS)
Diabetes mellitus, insulin-dependent, 20 ( HNF1A)
Diabetes mellitus, insulin-resistant, with acanthosis nigricans ( INSR)
Diabetes mellitus, ketosis-prone ( PAX4)
Diabetes mellitus, neonatal, with congenital hypothyroidism ( GLIS3)
Diabetes mellitus, noninsulin-dependent ( ABCC8)
Diabetes mellitus, noninsulin-dependent ( HNF1B)
Diabetes mellitus, noninsulin-dependent, late onset ( GCK)
Diabetes mellitus, permanent neonatal ( ABCC8)
Diabetes mellitus, permanent neonatal ( GCK)
Diabetes mellitus, permanent neonatal ( INS)
Diabetes mellitus, permanent neonatal, with cerebellar agenesis ( PTF1A)
Diabetes mellitus, permanent neonatal, with neurologic features ( KCNJ11)
Diabetes mellitus, transient neonatal 2 ( ABCC8)
Diabetes mellitus, transient neonatal, 1 ( ZFP57)
Diabetes mellitus, transient neonatal, 3 ( KCNJ11)
Diabetes mellitus, type 1 ( INS)
Diabetes mellitus, type 2 ( PAX4)
Diabetes, permanent neonatal ( KCNJ11)
Diamond-blackfan anemia ( RPS24)
Diamond-Blackfan anemia 1 ( RPS19)
Diamond-Blackfan anemia 10 ( RPS26)
Diamond-Blackfan anemia 4 ( RPS17)
Diamond-Blackfan anemia 5 ( RPL35A)
Diamond-Blackfan anemia 6 ( RPL5)
Diamond-Blackfan anemia 7 ( RPL11)
Diamond-Blackfan anemia 8 ( RPS7)
Diamond-Blackfan anemia 9 ( RPS10)
Diaphragmatic hernia 3 ( ZFPM2)
Diarrhea 3, secretory sodium, congenital, syndromic ( SPINT2)
Diarrhea 4, malabsorptive, congenital ( NEUROG3)
Diarrhea 5, with tufting enteropathy, congenital ( EPCAM)
Diastrophic dysplasia ( SLC26A2)
Diastrophic dysplasia, broad bone-platyspondylic variant ( SLC26A2)
Dicarboxylic aminoaciduria ( SLC1A1)
DiGeorge syndrome ( TBX1)
Digital clubbing, isolated congenital ( HPGD)
Dihydropyrimidine dehydrogenase deficiency ( DPYD)
Dihydropyrimidinuria ( DPYS)
Dilated cardiomyopathy with woolly hair and keratoderma ( DSP)
Dimethylglycine dehydrogenase deficiency ( DMGDH)
Disordered steroidogenesis, isolated ( POR)
Donnai-Barrow syndrome ( LRP2)
Dopamine beta-hydroxylase deficiency ( DBH)
Dosage-sensitive sex reversal ( DAX1)
Double outlet right ventricle ( CFC1)
Double outlet right ventricle ( GDF1)
Dowling-Degos disease ( KRT5)
Doyne honeycomb degeneration of retina ( EFEMP1)
Dravet syndrome ( SCN1A)
Duane retraction syndrome 2 ( CHN1)
Duane-radial ray syndrome ( SALL4)
Dubin-Johnson syndrome ( ABCC2)
Duchenne muscular dystrophy ( DMD)
Dyggve-Melchior-Clausen disease ( DYM)
Dysautonomia, familial ( IKBKAP)
Dyschromatosis symmetrica hereditaria ( ADAR)
Dyserythropoietic anemia with thrombocytopenia ( GATA1)
Dyskeratosis congenita ( TERT)
Dyskeratosis congenita ( NOLA2)
Dyskeratosis congenita, autosomal dominant ( TERC)
Dyskeratosis congenita, autosomal dominant ( TINF2)
Dyskeratosis congenita, autosomal recessive ( NOLA3)
Dyskeratosis congenita-1 ( DKC1)
Dyssegmental dysplasia, Silverman-Handmaker type ( HSPG2)
Dystonia 16 ( PRKRA)
Dystonia 6, torsion ( THAP1)
Dystonia, dopa-responsive, due to sepiapterin reductase deficiency ( SPR)
Dystonia, DOPA-responsive, with or without hyperphenylalainemia ( GCH1)
Dystonia, juvenile-onset ( ACTB)
Dystonia, myoclonic ( DRD2)
Dystonia-1, torsion ( DYT1)
Dystonia-11, myoclonic ( SGCE)
Dystonia-12 ( ATP1A3)
Dystonia-parkinsonism, adult-onset ( PLA2G6)
Dystonia-Parkinsonism, X-linked ( TAF1)
EBD inversa ( COL7A1)
EBD, Bart type ( COL7A1)
Ectodermal dysplasia, anhidrotic, autosomal dominant ( EDARADD)
Ectodermal dysplasia, anhidrotic, autosomal recessive ( EDARADD)
Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency ( NFKBIA)
Ectodermal dysplasia, anhidrotic, X-linked ( ED1)
Ectodermal dysplasia, ectrodactyly, and macular dystrophy ( CDH3)
Ectodermal dysplasia, hidrotic ( GJB6)
Ectodermal dysplasia, hypohidrotic, autosomal dominant ( EDAR)
Ectodermal dysplasia, hypohidrotic, autosomal recessive ( EDAR)
Ectodermal dysplasia, hypohidrotic, with immune deficiency ( IKBKG)
Ectodermal dysplasia, ‘pure’ hair-nail type ( KRT85)
Ectodermal dysplasia/skin fragility syndrome ( PKP1)
Ectodermal dysplasia-syndactyly syndrome 1 ( PVRL4)
Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency ( IKBKG)
Ectopia lentis, familial ( FBN1)
Ectopia lentis, isolated, autosomal recessive ( ADAMTSL4)
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 ( TP63)
Ehlers-Danlos due to tenascin X deficiency ( TNXB)
Ehlers-Danlos syndrome, cardiac valvular form ( COL1A2)
Ehlers-Danlos syndrome, hypermobility type ( TNXB)
Ehlers-Danlos syndrome, musculocontractural type ( CHST14)
Ehlers-Danlos syndrome, progeroid form ( B4GALT7)
Ehlers-Danlos syndrome, type I ( COL1A1)
Ehlers-Danlos syndrome, type I ( COL5A1)
Ehlers-Danlos syndrome, type I ( COL5A2)
Ehlers-Danlos syndrome, type II ( COL5A1)
Ehlers-Danlos syndrome, type III ( COL3A1)
Ehlers-Danlos syndrome, type IV ( COL3A1)
Ehlers-Danlos syndrome, type VI ( PLOD)
Ehlers-Danlos syndrome, type VIIA ( COL1A1)
Ehlers-Danlos syndrome, type VIIB ( COL1A2)
Ehlers-Danlos syndrome, type VIIC ( ADAMTS2)
Eiken syndrome ( PTHR1)
Elliptocytosis-1 ( EPB41)
Elliptocytosis-2 ( SPTA1)
Ellis-van Creveld syndrome ( EVC)
Ellis-van Creveld syndrome ( LBN)
Emery-Dreifuss muscular dystrophy ( EMD)
Emery-Dreifuss muscular dystrophy 4 ( SYNE1)
Emery-Dreifuss muscular dystrophy 5 ( SYNE2)
Emery-Dreifuss muscular dystrophy 6 ( FHL1)
Emery-Dreifuss muscular dystrophy, AD ( LMNA)
Emery-Dreifuss muscular dystrophy, AR ( LMNA)
Emphysema due to AAT deficiency ( SERPINA1)
Emphysema-cirrhosis, due to AAT deficiency ( SERPINA1)
Encephalocardiomyopathy, neonatal, mitochondrial, due to ATP synthase deficiency ( TMEM70)
Encephalopathy, familial, with neuroserpin inclusion bodies ( SERPINI1)
Encephalopathy, neonatal severe ( MECP2)
Endocrine-cerebroosteodysplasia ( ICK)
Endometrial cancer ( MLH3)
Endometrial cancer, familial ( MSH6)
Endplate acetylcholinesterase deficiency ( COLQ)
Enhanced S-cone syndrome ( NR2E3)
Enlarged vestibular aqueduct ( FOXI1)
Enlarged vestibular aqueduct ( SLC26A4)
Enterokinase deficiency ( PRSS7)
Eosinophil peroxidase deficiency ( EPX)
Epidermodysplasia verruciformis ( TMC6)
Epidermodysplasia verruciformis ( TMC8)
Epidermolysis bullosa dystrophica, AD ( COL7A1)
Epidermolysis bullosa dystrophica, AR ( COL7A1)
Epidermolysis bullosa of hands and feet ( ITGB4)
Epidermolysis bullosa pruriginosa ( COL7A1)
Epidermolysis bullosa simplex with migratory circinate erythema ( KRT5)
Epidermolysis bullosa simplex with mottled pigmentation ( KRT5)
Epidermolysis bullosa simplex with pyloric atresia ( PLEC1)
Epidermolysis bullosa simplex, Dowling-Meara type ( KRT14)
Epidermolysis bullosa simplex, Dowling-Meara type ( KRT5)
Epidermolysis bullosa simplex, Koebner type ( KRT14)
Epidermolysis bullosa simplex, Koebner type ( KRT5)
Epidermolysis bullosa simplex, Ogna type ( PLEC1)
Epidermolysis bullosa simplex, recessive ( KRT14)
Epidermolysis bullosa simplex, Weber-Cockayne type ( KRT14)
Epidermolysis bullosa simplex, Weber-Cockayne type ( KRT5)
Epidermolysis bullosa, generalized atrophic benign ( LAMA3)
Epidermolysis bullosa, junctional, Herlitz type ( LAMA3)
Epidermolysis bullosa, junctional, Herlitz type ( LAMB3)
Epidermolysis bullosa, junctional, Herlitz type ( LAMC2)
Epidermolysis bullosa, junctional, non-Herlitz type ( COL17A1)
Epidermolysis bullosa, junctional, non-Herlitz type ( ITGB4)
Epidermolysis bullosa, junctional, non-Herlitz type ( LAMB3)
Epidermolysis bullosa, junctional, non-Herlitz type ( LAMC2)
Epidermolysis bullosa, junctional, with pyloric atresia ( ITGB4)
Epidermolysis bullosa, junctional, with pyloric stenosis ( ITGA6)
Epidermolysis bullosa, lethal acantholytic ( DSP)
Epidermolysis bullosa, pretibial ( COL7A1)
Epidermolytic hyperkeratosis ( KRT1)
Epidermolytic hyperkeratosis ( KRT10)
Epidermolytic palmoplantar keratoderma ( KRT9)
Epilepsy, benign neonatal, type 2 ( KCNQ3)
Epilepsy, benign, neonatal, type 1 ( KCNQ2)
Epilepsy, female-restricted, with mental retardation ( PCDH19)
Epilepsy, generalized, with febrile seizures plus, type 2 ( SCN1A)
Epilepsy, generalized, with febrile seizures plus, type 3 ( GABRG2)
Epilepsy, juvenile myoclonic, susceptibility to ( GABRD)
Epilepsy, myoclonic, Lafora type ( EPM2A)
Epilepsy, myoclonic, Lafora type ( NHLRC1)
Epilepsy, myoclonic, with mental retardation and spasticity ( ARX)
Epilepsy, neonatal myoclonic, with suppression-burst pattern ( SLC25A22)
Epilepsy, nocturnal frontal lobe, 1 ( CHRNA4)
Epilepsy, nocturnal frontal lobe, 3 ( CHRNB2)
Epilepsy, nocturnal frontal lobe, type 4 ( CHRNA2)
Epilepsy, partial, with auditory features ( LGI1)
Epilepsy, progressive myoclonic 1 ( CSTB)
Epilepsy, progressive myoclonic 1B ( PRICKLE1)
Epilepsy, progressive myoclonic 2B ( NHLRC1)
Epilepsy, progressive myoclonic 3 ( KCTD7)
Epilepsy, pyridoxine-dependent ( ALDH7A1)
Epilepsy, severe myoclonic, of infancy ( SCN1A)
Epilepsy, X-linked, with variable learning disabilities and behavior disorders ( SYN1)
Epileptic encephalopathy, early infantile, 1 ( ARX)
Epileptic encephalopathy, early infantile, 2 ( CDKL5)
Epileptic encephalopathy, early infantile, 4 ( STXBP1)
Epileptic encephalopathy, early infantile, 5 ( SPTAN1)
Epileptic encephalopathy, Lennox-Gastaut type ( MAPK10)
Epiphyseal dysplasia, multiple 1 ( COMP)
Epiphyseal dysplasia, multiple, 2 ( COL9A2)
Epiphyseal dysplasia, multiple, 3 ( COL9A3)
Epiphyseal dysplasia, multiple, 4 ( SLC26A2)
Epiphyseal dysplasia, multiple, 5 ( MATN3)
Epiphyseal dysplasia, multiple, with myopia and deafness ( COL2A1)
Episodic ataxia, type 2 ( CACNA1A)
Episodic ataxia, type 6 ( SLC1A3)
Episodic ataxia/myokymia syndrome ( KCNA1)
Epstein syndrome ( MYH9)
Erythermalgia, primary ( SCN9A)
Erythrocyte lactate transporter defect ( SLC16A1)
Erythrocytosis, familial, 3 ( EGLN1)
Erythrocytosis, familial, 4 ( EPAS1)
Erythrokeratodermia variabilis et progressiva ( GJB3)
Erythrokeratodermia variabilis with erythema gyratum repens ( GJB4)
Escobar syndrome ( CHRNG)
Esophageal cancer ( DLEC1)
Esophageal squamous cell carcinoma (40513)
Esophageal squamous cell carcinoma ( LZTS1)
Esophageal squamous cell carcinoma ( WWOX)
Ethylmalonic encephalopathy ( ETHE1)
Ewing sarcoma ( EWSR1)
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis ( COX4I2)
Exostoses, multiple, type 1 ( EXT1)
Exostoses, multiple, type 2 ( EXT2)
Exudative vitreoretinopathy ( FZD4)
Exudative vitreoretinopathy 4 ( LRP5)
Exudative vitreoretinopathy 5 ( TSPAN12)
Exudative vitreoretinopathy, X-linked ( NDP)
Fabry disease ( GLA)
Fabry disease, cardiac variant ( GLA)
Factor V and factor VIII, combined deficiency of ( MCFD2)
Factor V deficiency ( F5)
Factor XI deficiency, autosomal dominant ( F11)
Factor XI deficiency, autosomal recessive ( F11)
Factor XII deficiency ( F12)
Factor XIIIA deficiency ( F13A1)
Factor XIIIB deficiency ( F13B)
Failure of tooth eruption, primary ( PTHR1)
Familial cold autoinflammatory syndrome 2 ( NALP12)
Familial Mediterranean fever, AD ( MEFV)
Familial Mediterranean fever, AR ( MEFV)
Fanconi anemia, complementation group 0 ( RAD51C)
Fanconi anemia, complementation group A ( FANCA)
Fanconi anemia, complementation group B ( FAAP95)
Fanconi anemia, complementation group D1 ( BRCA2)
Fanconi anemia, complementation group I ( FANCI)
Fanconi anemia, complementation group J ( BRIP1)
Fanconi anemia, complementation group N ( PALB2)
Fanconi renotubular syndrome 2 ( SLC34A1)
Fanconi-Bickel syndrome ( SLC2A2)
Farber lipogranulomatosis ( ASAH1)
Fatty liver, acute, of pregnancy ( HADHA)
Febrile convulsions, familial ( GABRG2)
Febrile convulsions, familial, 3A ( SCN1A)
Febrile convulsions, familial, 3B ( SCN9A)
Fechtner syndrome ( MYH9)
Feingold syndrome ( MYCN)
Fertile eunuch syndrome ( GNRHR)
Fetal akinesia deformation sequence ( DOK7)
Fetal akinesia deformation sequence ( RAPSN)
Fetal hemoglobin quantitative trait locus 1 ( HBG1)
Fetal hemoglobin quantitative trait locus 1 ( HBG2)
FG syndrome 2 ( FLNA)
FG syndrome 4 ( CASK)
Fibrodysplasia ossificans progressiva ( ACVR1)
Fibromatosis, gingival ( SOS1)
Fibromatosis, gingival, 2 ( GINGF2)
Fibromatosis, juvenile hyaline ( ANTXR2)
Fibrosis of extraocular muscles, congenital, 1 ( KIF21A)
Fibrosis of extraocular muscles, congenital, 2 ( PHOX2A)
Fibrosis of extraocular muscles, congenital, 3A ( TUBB3)
Fibrosis of extraocular muscles, congenital, 3B ( KIF21A)
Fibular hypoplasia and complex brachydactyly ( GDF5)
Fish-eye disease ( LCAT)
Fletcher factor deficiency ( KLKB1)
Focal cortical dysplasia, Taylor balloon cell type ( TSC1)
Focal dermal hypoplasia ( PORCN)
Folate malabsorption, hereditary ( SLC46A1)
Follicle-stimulating hormone deficiency, isolated ( FSHB)
Foveal hyperplasia ( PAX6)
Foveomacular dystrophy, adult-onset, with choroidal neovascularization ( PRPH2)
Fragile X syndrome ( FMR1)
Fragile X tremor/ataxia syndrome ( FMR1)
Frank-ter Haar syndrome ( SH3PXD2B)
Fraser syndrome ( FRAS1)
Fraser syndrome ( FREM2)
Frasier syndrome ( WT1)
Friedreich ataxia ( FXN)
Friedreich ataxia with retained reflexes ( FXN)
Frontometaphyseal dysplasia ( FLNA)
Frontonasal dysplasia 2 ( ALX4)
Frontonasal dysplasia 3 ( ALX1)
Frontorhiny ( ALX3)
Frontotemporal lobar degeneration with ubiquitin-positive inclusions ( GRN)
Frontotemporal lobar degeneration, TARDBP-related ( TARDBP)
Fructose intolerance ( ALDOB)
Fructose-1,6-bisphosphatase deficiency ( FBP1)
Fucosidosis ( FUCA1)
Fuhrmann syndrome ( WNT7A)
Fumarase deficiency ( FH)
Fundus albipunctatus ( RDH5)
Fundus albipunctatus ( RLBP1)
Fundus flavimaculatus ( ABCA4)
GABA-transaminase deficiency ( ABAT)
Galactokinase deficiency with cataracts ( GALK1)
Galactose epimerase deficiency ( GALE)
Galactosemia ( GALT)
Galactosialidosis ( CTSA)
Gallbladder disease 1 ( ABCB4)
Gallbladder disease 4 ( ABCG8)
GAMT deficiency ( GAMT)
Gastric cancer, familial diffuse ( CDH1)
Gaucher disease, atypical ( PSAP)
Gaucher disease, perinatal lethal ( GBA)
Gaucher disease, type ( GBA)
Gaucher disease, type II ( GBA)
Gaucher disease, type III ( GBA)
Gaucher disease, type IIIC ( GBA)
Gaze palsy, horizontal, with progressive scoliosis ( ROBO3)
Geleophysic dysplasia ( ADAMTSL2)
Generalized epilepsy and paroxysmal dyskinesia ( KCNMA1)
Generalized epilepsy with febrile seizures plus ( SCN1B)
Germ cell tumors ( KIT)
Geroderma osteodysplasticum ( SCYL1BP1)
Gerstmann-Straussler disease ( PRNP)
Ghosal syndrome ( TBXAS1)
Giant axonal neuropathy-1 ( GAN)
Gillespie syndrome ( PAX6)
Gitelman syndrome ( SLC12A3)
Glanzmann thrombasthenia, type A ( ITGA2B)
Glaucoma 1, open angle, 1O ( NTF4)
Glaucoma 1, open angle, E ( OPTN)
Glaucoma 1, open angle, G ( WDR36)
Glaucoma 1A, primary open angle, juvenile-onset ( MYOC)
Glaucoma 1B, primary open angle, adult onset ( GLC1B)
Glaucoma 3, primary congenital, D ( LTBP2)
Glaucoma 3A, primary congenital ( CYP1B1)
Glaucoma, primary open angle, adult-onset ( CYP1B1)
Glaucoma, primary open angle, juvenile-onset ( CYP1B1)
Globozoospermia ( GOPC)
Globozoospermia ( SPATA16)
Glomerulocystic kidney disease with hyperuricemia and isosthenuria ( UMOD)
Glomerulopathy with fibronectin deposits 2 ( FN1)
Glomerulosclerosis, focal segmental, 1 ( ACTN4)
Glomerulosclerosis, focal segmental, 2 ( TRPC6)
Glomerulosclerosis, focal segmental, 3 ( CD2AP)
Glomerulosclerosis, focal segmental, 5 ( INF2)
Glomuvenous malformations ( GLML)
Glucocorticoid deficiency 2 ( MRAP)
Glucocorticoid deficiency, due to ACTH unresponsiveness ( MC2R)
Glucose-galactose malabsorption ( SLC5A1)
GLUT1 deficiency syndrome 1 ( SLC2A1)
GLUT1 deficiency syndrome 2 ( SLC2A1)
Glutamate formiminotransferase deficiency ( FTCD)
Glutamine deficiency, congenital ( GLUL)
Glutaricaciduria, type I ( GCDH)
Glutaricaciduria, type IIA ( ETFA)
Glutaricaciduria, type IIB ( ETFB)
Glutaricaciduria, type IIC ( ETFDH)
Glutathione synthetase deficiency ( GSS)
Glycerol kinase deficiency ( GK)
Glycine encephalopathy ( AMT)
Glycine encephalopathy ( GCSH)
Glycine encephalopathy ( GLDC)
Glycine N-methyltransferase deficiency ( GNMT)
Glycogen storage disease 0, muscle ( GYS1)
Glycogen storage disease Ib ( SLC37A4)
Glycogen storage disease Ic ( SLC37A4)
Glycogen storage disease Ic ( SLC17A3)
Glycogen storage disease II ( GAA)
Glycogen storage disease IIb ( LAMP2)
Glycogen storage disease IIIa ( AGL)
Glycogen storage disease IIIb ( AGL)
Glycogen storage disease IV ( GBE1)
Glycogen storage disease IXc ( PHKG2)
Glycogen storage disease of heart, lethal congenital ( PRKAG2)
Glycogen storage disease type 0 ( GYS2)
Glycogen storage disease VII ( PFKM)
Glycogen storage disease X ( PGAM2)
Glycogen storage disease XI ( LDHA)
Glycogen storage disease XII ( ALDOA)
Glycogen storage disease XIII ( ENO3)
Glycogen storage disease XIV ( PGM1)
Glycogen storage disease XV ( GYG1)
Glycogen storage disease, type IXa1 ( PHKA2)
Glycogen storage disease, type IXa2 ( PHKA2)
Glycosylphosphatidylinositol deficiency ( PIGM)
GM1-gangliosidosis, type I ( GLB1)
GM1-gangliosidosis, type II ( GLB1)
GM1-gangliosidosis, type III ( GLB1)
GM2-gangliosidosis, AB variant ( GM2A)
GM2-gangliosidosis, several forms ( HEXA)
Gnathodiaphyseal dysplasia ( ANO5)
Goldberg-Shpritzen megacolon syndrome ( KIAA1279)
Gout, PRPS-related ( PRPS1)
GRACILE syndrome ( BCS1L)
Greenberg dysplasia ( LBR)
Greig cephalopolysyndactyly syndrome ( GLI3)
Griscelli syndrome type 1 ( MYO5A)
Griscelli syndrome type 2 ( RAB27A)
Griscelli syndrome type 3 ( MLPH)
Growth hormone deficiency with pituitary anomalies ( HESX1)
Growth hormone deficiency, isolated, type IA ( GH1)
Growth hormone deficiency, isolated, type IB ( GH1)
Growth hormone deficiency, isolated, type IB ( GHRHR)
Growth hormone deficiency, isolated, type II ( GH1)
Growth hormone insensitivity with immunodeficiency ( STAT5B)
Growth retardation with deafness and mental retardation due to IGF1 deficiency ( IGF1)
Growth retardation, developmental delay, coarse facies, and early death ( FTO)
Guttmacher syndrome ( HOXA13)
Gyrate atrophy of choroid and retina with or without ornithinemia ( OAT)
Haddad syndrome ( ASCL1)
Hailey-Hailey disease ( ATP2C1)
Haim-Munk syndrome ( CTSC)
Hallermann-Streiff syndrome ( GJA1)
Hand-foot-uterus Syndrome ( HOXA13)
Harderoporphyria ( CPOX)
HARP syndrome ( PANK2)
Hartnup disorder ( SLC6A19)
Hawkinsinuria ( HPD)
Hay-Wells syndrome ( TP63)
HDL deficiency, type 2 ( ABCA1)
Hearing loss, low-frequency sensorineural ( WFS1)
Heart block, nonprogressive ( SCN5A)
Heart block, progressive, type IA ( SCN5A)
Heinz body anemia ( HBA2)
Heinz body anemias, alpha- ( HBA1)
Heinz body anemias, beta- ( HBB)
HELLP syndrome, maternal, of pregnancy ( HADHA)
Hematopoiesis, cyclic ( ELANE)
Hematuria, benign familial ( COL4A3)
Hemiplegic migraine, familial ( CACNA1A)
Hemochromatosis, type 2A ( HJV)
Hemochromatosis, type 2B ( HAMP)
Hemochromatosis, type 3 ( TFR2)
Hemochromatosis, type 4 ( SLC40A1)
Hemolytic anemia due to adenylate kinase deficiency ( AK1)
Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency ( GCLC)
Hemolytic anemia due to glutathione synthetase deficiency ( GSS)
Hemolytic anemia due to hexokinase deficiency ( HK1)
Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency ( GPI)
Hemolytic uremic syndrome, atypical, susceptibility to, 1 ( HF1)
Hemophagocytic lymphohistiocytosis, familial, 2 ( PRF1)
Hemophagocytic lymphohistiocytosis, familial, 3 ( UNC13D)
Hemophagocytic lymphohistiocytosis, familial, 4 ( STX11)
Hemophilia B ( F9)
Hemorrhagic diathesis due to \’antithrombin\’ Pittsburgh ( SERPINA1)
Hemosiderosis, systemic, due to aceruloplasminemia ( CP)
Hennekam lymphangiectasia-lymphedema syndrome ( CCBE1)
Hepatic adenoma ( HNF1A)
Hepatic venoocclusive disease with immunodeficiency ( SP110)
Hepatocellular cancer ( PDGFRL)
Hepatocellular carcinoma ( CTNNB1)
Hepatocellular carcinoma ( TP53)
Hepatocellular carcinoma, childhood type ( MET)
Hereditary hemorrhagic telangiectasia-1 ( ENG)
Hereditary hemorrhagic telangiectasia-2 ( ACVRL1)
Hereditary motor and sensory neuropathy VI ( MFN2)
Hereditary motor and sensory neuropathy, type IIc ( TRPV4)
Hermansky-Pudlak syndrome 1 ( HPS1)
Hermansky-Pudlak syndrome 2 ( AP3B1)
Hermansky-Pudlak syndrome 3 ( HPS3)
Hermansky-Pudlak syndrome 4 ( HPS4)
Hermansky-Pudlak syndrome 5 ( HPS5)
Hermansky-Pudlak syndrome 6 ( HPS6)
Hermansky-Pudlak syndrome 7 ( DTNBP1)
Hermansky-Pudlak syndrome 8 ( BLOC1S3)
Heterotaxy, visceral, 1, S-linke ( ZIC3)
Heterotaxy, visceral, 2, autosomal ( CFC1)
Heterotaxy, visceral, 5 ( NODAL)
Heterotopia, periventricular ( FLNA)
Heterotopia, periventricular, ED variant ( FLNA)
Hirschsprung disease ( GDNF)
Hirschsprung disease ( RET)
Hirschsprung disease, short-segment ( PMX2B)
HMG-CoA synthase-2 deficiency ( HMGCS2)
Hodgkin lymphoma ( KLHDC8B)
Holocarboxylase synthetase deficiency ( HLCS)
Holoprosencephaly-2 ( SIX3)
Holoprosencephaly-3 ( SHH)
Holoprosencephaly-4 ( TGIF)
Holoprosencephaly-5 ( ZIC2)
Holoprosencephaly-7 ( PTCH1)
Holoprosencephaly-9 ( GLI2)
Holt-Oram syndrome ( TBX5)
Homocystinuria due to MTHFR deficiency ( MTHFR)
Homocystinuria, B6-responsive and nonresponsive types ( CBS)
Homocystinuria, cblD type, variant 1 ( C2orf25)
Homocystinuria-megaloblastic anemia, cbl E type ( MTRR)
Hoyeraal-Hreidarsson syndrome ( DKC1)
HPRT-related gout ( HPRT1)
Huchinson-Gilford Progeria ( LMNA)
Hyalinosis, infantile systemic ( ANTXR2)
Hydatidiform mole ( NALP7)
Hydranencephaly with abnormal genitalia ( ARX)
Hydrocephalus due to aqueductal stenosis ( L1CAM)
Hydrocephalus with congenital idiopathic intestinal pseudoobstruction ( L1CAM)
Hydrocephalus with Hirschsprung disease and cleft palate ( L1CAM)
Hydrolethalus syndrome ( HYLS1)
Hyperalphalipoproteinemia ( CETP)
Hyperbilirubinemia, familial transcient neonatal ( UGT1A1)
Hypercarotenemia and vitamin A deficiency, autosomal dominant ( BCMO1)
Hypercholanemia, familial ( BAAT)
Hypercholanemia, familial ( EPHX1)
Hypercholanemia, familial ( TJP2)
Hypercholesterolemia, due to ligand-defective apo B ( APOB)
Hypercholesterolemia, familial ( LDLR)
Hypercholesterolemia, familial, 3 ( PCSK9)
Hypercholesterolemia, familial, autosomal recessive ( LDLRAP1)
Hypercholesterolemia, familial, modification of ( APOA2)
Hyperchylomicronemia, late-onset ( APOA5)
Hyperekplexia ( GPHN)
Hyperekplexia ( SLC6A5)
Hyperekplexia and epilepsy ( ARHGEF9)
Hyperekplexia, autosomal recessive ( GLRB)
Hypereosinophilic syndrome, idiopathic, resistant to imatinib ( PDGFRA)
Hyperferritinemia-cataract syndrome ( FTL)
Hyperfibrinolysis, familial, due to increased release of PLAT ( PLAT)
Hyperglycinuria ( SLC36A2)
Hyperglycinuria ( SLC6A19)
Hyperglycinuria ( SLC6A20)
Hyper-IgD syndrome ( MVK)
Hyper-IgE recurrent infection syndrome ( STAT3)
Hyper-IgE recurrent infection syndrome, autosomal recessive ( DOCK8)
Hyperinsulinemic hypoglycemia, familial, 1 ( ABCC8)
Hyperinsulinemic hypoglycemia, familial, 2 ( KCNJ11)
Hyperinsulinemic hypoglycemia, familial, 3 ( GCK)
Hyperinsulinemic hypoglycemia, familial, 4 ( HADHSC)
Hyperinsulinemic hypoglycemia, familial, 5 ( INSR)
Hyperinsulinemic hypoglycemia, familial, 7 ( SLC16A1)
Hyperinsulinism-hyperammonemia syndrome ( GLUD1)
Hyperkalemic periodic paralysis, type 2 ( SCN4A)
Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations ( CCM1)
Hyperlipoproteinemia, type Ib ( APOC2)
Hyperlysinemia ( AASS)
Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency ( MAT1A)
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome ( SLC25A15)
Hyperostosis, endosteal ( LRP5)
Hyperoxaluria, primary, type 1 ( AGXT)
Hyperoxaluria, primary, type II ( GRHPR)
Hyperoxaluria, primary, type III ( DHDPSL)
Hyperparathyroidism, AD ( MEN1)
Hyperparathyroidism, familial primary ( HRPT2)
Hyperparathyroidism, neonatal ( CASR)
Hyperparathyroidism-jaw tumor syndrome ( HRPT2)
Hyperpehnylalaninemia, BH4-deficient, B ( GCH1)
Hyperphenylalaninemia, BH4-deficient, A ( PTS)
Hyperphenylalaninemia, BH4-deficient, C ( QDPR)
Hyperphenylalaninemia, BH4-deficient, D ( PCBD)
Hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, and hypogonadism ( SLC29A3)
Hyperpigmentation, familial progressive ( KITLG)
Hyperprolinemia, type I ( PRODH)
Hyperprolinemia, type II ( ALDH4A1)
Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy ( NR3C2)
Hypertension, essential ( PNMT)
Hypertension, essential ( AGTR1)
Hypertension, essential ( PTGIS)
Hyperthyroidism, familial gestational ( TSHR)
Hyperthyroidism, nonautoimmune ( TSHR)
Hypertrophic osteoarthropathy, primary, autosomal recessive ( HPGD)
Hyperuricemic nephropathy, familial juvenile 1 ( UMOD)
Hyperuricemic nephropathy, familial juvenile 2 ( REN)
Hypoaldosteronism, congenital, due to CMO I deficiency ( CYP11B2)
Hypoaldosteronism, congenital, due to CMO II deficiency ( CYP11B2)
Hypoalphalipoproteinemia ( APOA1)
Hypocalcemia, autosomal dominant ( CASR)
Hypocalciuric hypercalcemia, type I ( CASR)
Hypochondroplasia ( FGFR3)
Hypoglycemia of infancy, leucine-sensitive ( ABCC8)
Hypogonadism, hypogonadotropic ( PROK2)
Hypogonadotropic hypogonadism ( CHD7)
Hypogonadotropic hypogonadism ( FGFR1)
Hypogonadotropic hypogonadism ( KISS1R)
Hypogonadotropic hypogonadism ( NELF)
Hypogonadotropic hypogonadism ( TAC3)
Hypogonadotropic hypogonadism ( TACR3)
Hypogonadotropic hypogonadism due to GNRH deficiency ( GNRH1)
Hypokalemic periodic paralysis type 1 ( CACNA1S)
Hypomagnesemia 4, renal ( EGF)
Hypomagnesemia with secondary hypocalcemia ( TRPM6)
Hypomagnesemia, primary ( CLDN16)
Hypomagnesemia, renal, with ocular involvement ( CLDN19)
Hypomagnesemia-2, renal ( FXYD2)
Hypomyelination, global cerebral ( SLC25A12)
Hypoparathyroidism, autosomal dominant ( PTH)
Hypoparathyroidism, autosomal recessive ( PTH)
Hypoparathyroidism, familial isolated ( GCMB)
Hypoparathyroidism, sensorineural deafness, and renal dysplasia ( GATA3)
Hypoparathyroidism-retardation-dysmorphism syndrome ( TBCE)
Hypophosphatasia, adult ( ALPL)
Hypophosphatasia, childhood ( ALPL)
Hypophosphatasia, infantile ( ALPL)
Hypophosphatemia, X-linked ( PHEX)
Hypophosphatemic rickets ( CLCN5)
Hypophosphatemic rickets with hypercalciuria ( SLC34A3)
Hypophosphatemic rickets, AR ( DMP1)
Hypophosphatemic rickets, autosomal dominant ( FGF23)
Hypophosphatemic rickets, autosomal recessive, 2 ( ENPP1)
Hypoplastic left heart syndrome ( GJA1)
Hypoproteinemia, hypercatabolic ( B2M)
Hypospadias 1, X-linked ( AR)
Hypospadias 2, X-linked ( MAMLD1)
Hypothryoidism, congenital, nongoitrous 4 ( TSHB)
Hypothyroidism, congenital nongoitrous, 5 ( NKX2E)
Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia ( PAX8)
Hypothyroidism, congenital, nongoitrous ( TSHR)
Hypotrichosis and recurrent skin vesicles ( DSC3)
Hypotrichosis simplex of scalp ( CDSN)
Hypotrichosis, congenital, with juvenile macular dystrophy ( CDH3)
Hypotrichosis, hereditary, Marie Unna type, 1 ( HR)
Hypotrichosis, localized, autosomal recessive ( DSG4)
Hypotrichosis, localized, autosomal recessive 2 ( LIPH)
Hypotrichosis, localized, autosomal recessive, 3 ( P2RY5)
Hypotrichosis-lymphedema-telangiectasia syndrome ( SOX18)
Hypouricemia, renal ( SLC22A12)
Hypouricemia, renal, 2 ( SLC2A9)
Hystrix-like ichthyosis with deafness ( GJB2)
Ichthyosiform erythroderma, congenital ( TGM1)
Ichthyosiform erythroderma, congenital, nonbullous, 1 ( ALOX12B)
Ichthyosiform erythroderma, congenital, nonbullous, 1 ( ALOXE3)
Ichthyosis bullosa of Siemens ( KRT2)
Ichthyosis follicularis, atrichia, and photophobia syndrome ( MBTPS2)
Ichthyosis histrix, Curth-Macklin Palmoplantar keratoderma, nonepidermolytic ( KRT1)
Ichthyosis prematurity syndrome ( SLC27A4)
Ichthyosis vulgaris ( FLG)
Ichthyosis with confetti ( KRT10)
Ichthyosis with hypotrichosis ( ST14)
Ichthyosis, congenital, autosomal recessive ( ICHYN)
Ichthyosis, cyclic, with epidermolytic hyperkeratosis ( KRT1)
Ichthyosis, cyclic, with epidermolytic hyperkeratosis ( KRT10)
Ichthyosis, harlequin ( ABCA12)
Ichthyosis, lamellar 2 ( ABCA12)
Ichthyosis, lamellar, 3 ( CYP4F22)
Ichthyosis, lamellar, autosomal recessive ( TGM1)
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis ( CLDN1)
Ichthyosis, x-linked ( STS)
Iminoglycinuria, digenic ( SLC36A2)
Iminoglycinuria, digenic ( SLC6A19)
Iminoglycinuria, digenic ( SLC6A20)
Immune dysfunction with T-cell inactivation due to calcium entry defect 1 ( ORAI1)
Immune dysfunction, with T-cell inactivation due to calcium entry defect 2 ( STIM1)
Immunodeficiency due to defect in CD3-zeta ( CD247)
Immunodeficiency due to defect in MAPBP-interacting protein ( MAPBPIP)
Immunodeficiency due to purine nucleoside phosphorylase deficiency ( PNP)
Immunodeficiency with hyper IgM, type 4 ( UNG)
Immunodeficiency with hyper-IgM, type 2 ( AICDA)
Immunodeficiency with hyper-IgM, type 3 ( TNFRSF5)
Immunodeficiency, common variable, 1 ( ICOS)
Immunodeficiency, common variable, 2 ( TNFRSF13B)
Immunodeficiency, common variable, 3 ( CD19)
Immunodeficiency, common variable, 4 ( TNFRSF13C)
Immunodeficiency, common variable, 5 ( MS4A1)
Immunodeficiency, common variable, 6 ( CD81)
Immunodeficiency, hypogammaglobulinemia, and reduced B cells ( CD79B)
Immunodeficiency, isolated ( IKBKG)
Immunodeficiency, X-linked, with hyper-IgM ( TNFSF5)
Immunodeficiency-centromeric instability-facial anomalies syndrome ( DNMT3B)
Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked ( FOXP3)
Immunoglobulin A deficiency 2 ( TNFRSF13B)
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia ( VCP)
Inclusion body myopathy, autosomal recessive ( GNE)
Inclusion body myopathy-3 ( MYH2)
Incontinentia pigmenti, type II ( IKBKG)
Infantile neuroaxonal dystrophy 1 ( PLA2G6)
Inflammatory bowel disease 25 ( CRFB4)
Insensitivity to pain, channelopathy-associated ( SCN9A)
Insensitivity to pain, congenital, with anhidrosis ( NTRK1)
Insomnia, fatal familial ( PRNP)
Insulin resistance, severe, digenic ( PPARG)
Insulin resistance, severe, digenic ( PPP1R3A)
Insulin-like growth factor I, resistance to ( IGF1R)
Interleukin 1 receptor antagonist deficiency ( IL1RN)
Interleukin-2 receptor, alpha chain, deficiency of ( IL2RA)
Intestinal pseudoobstruction, neuronal ( FLNA)
Intrinsic factor deficiency ( GIF)
Invasive pneumococcal disease, recurrent isolated, 1 ( IRAK4)
IRAK4 deficiency ( IRAK4)
Iridogoniodysgenesis, type 1 ( FOXC1)
Iridogoniodysgenesis, type 2 ( PITX2)
Iris hypoplasia and glaucoma ( FOXC1)
Iron-refractory iron deficiency anemia ( TMPRSS6)
Isobutyryl-CoA dehydrogenase deficiency ( ACAD8)
Isovaleric acidemia ( IVD)
IVIC syndrome ( SALL4)
Jackson-Weiss syndrome ( FGFR1)
Jackson-Weiss syndrome ( FGFR2)
Jalili syndrome ( CNNM4)
Jensen syndrome ( TIMM8A)
Jervell and Lange-Nielsen syndrome ( KCNQ1)
Jervell and Lange-Nielsen syndrome 2 ( KCNE1)
Johanson-Blizzard syndrome ( UBR1)
Joubert syndrome 1 ( INPP5E)
Joubert syndrome 10 ( OFD1)
Joubert syndrome 2 ( TMEM216)
Joubert syndrome 4 ( NPHP1)
Joubert syndrome 5 ( CEP290)
Joubert syndrome 6 ( TMEM67)
Joubert syndrome 7 ( RPGRIP1L)
Joubert syndrome 8 ( ARL13B)
Joubert syndrome 9 ( CC2D2A)
Joubert syndrome-3 ( AHI1)
Juvenile polyposis syndrome, infantile form ( BMPR1A)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome ( MADH4)
Kallmann syndrome 2 ( FGFR1)
Kallmann syndrome 3 ( PROKR2)
Kallmann syndrome 4 ( PROK2)
Kallmann syndrome 5 ( CHD7)
Kallmann syndrome 6 ( FGF8)
Kanzaki disease ( NAGA)
Karak syndrome ( PLA2G6)
Kenny-Caffey syndrome-1 ( TBCE)
Keratitis ( PAX6)
Keratitis-ichthyosis-deafness syndrome ( GJB2)
Keratoconus ( VSX1)
Keratoderma, palmoplantar, with deafness ( GJB2)
Keratosis follicularis spinulosa decalvans ( SAT1)
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma ( POMP)
Keratosis palmoplantaris striata I ( DSG1)
Keratosis palmoplantaris striata II ( DSP)
Keratosis palmoplantaris striata III ( KRT1)
Keutel syndrome ( MGP)
Kindler syndrome ( KIND1)
Kleefstra syndrome ( EHMT1)
Klippel-Feil syndrome, autosomal dominant ( GDF6)
Kniest dysplasia ( COL2A1)
Knobloch syndrome, type 1 ( COL18A1)
Kowarski syndrome ( GH1)
Krabbe disease ( GALC)
Krabbe disease, atypical ( PSAP)
L-2-hydroxyglutaric aciduria ( L2HGDH)
Lactase deficiency, congenital ( LCT)
Lactase persistance/nonpersistance ( MCM6)
Lactic acidosis, fatal infantile ( SUCLG1)
Lacticacidemia due to PDX1 deficiency ( PDX1)
LADD syndrome ( FGF10)
LADD syndrome ( FGFR3)
Laing distal myopathy ( MYH7)
Langer mesomelic dysplasia ( SHOX)
Langer mesomelic dysplasia ( SHOXY)
Laron dwarfism ( GHR)
Larsen syndrome ( FLNB)
Laryngoonychocutaneous syndrome ( LAMA3)
Lathosterolosis ( SC5DL)
LCHAD deficiency ( HADHA)
Leber congenital amaurosis 1 ( GUCY2D)
Leber congenital amaurosis 10 ( CEP290)
Leber congenital amaurosis 12 ( RD3)
Leber congenital amaurosis 13 ( RDH12)
Leber congenital amaurosis 14 ( LRAT)
Leber congenital amaurosis 2 ( RPE65)
Leber congenital amaurosis 3 ( SPATA7)
Leber congenital amaurosis 4 ( AIPL1)
Leber congenital amaurosis 5 ( LCA5)
Left ventricular noncompaction 1, with or without congenital heart defects ( DTNA)
Left ventricular noncompaction 3, with or without dilated cardiomyopathy ( LDB3)
Left ventricular noncompaction 4 ( ACTC1)
Left ventricular noncompaction 5 ( MYH7)
Left ventricular noncompaction 6 ( TNNT2)
Left ventricular noncompaction, X-linked ( TAZ)
Legius syndrome ( SPRED1)
Leigh syndrome ( BCS1L)
Leigh syndrome ( DLD)
Leigh syndrome ( NDUFS3)
Leigh syndrome ( NDUFS4)
Leigh syndrome ( NDUFS7)
Leigh syndrome ( NDUFS8)
Leigh syndrome ( NDUFV1)
Leigh syndrome ( SDHA)
Leigh syndrome due to cytochrome c oxidase deficiency ( COX15)
Leigh syndrome due to mitochondrial complex I deficiency ( C8orf38)
Leigh syndrome due to mitochondrial complex I deficiency ( NDUFA2)
Leigh syndrome, due to COX deficiency ( SURF1)
Leigh syndrome, French-Canadian type ( LRPPRC)
Leigh syndrome, X-linked ( PDHA1)
Leiomyomatosis and renal cell cancer ( FH)
Leiomyomatosis, diffuse, with Alport syndrome ( COL4A6)
Leopard syndrome ( PTPN11)
LEOPARD syndrome 2 ( RAF1)
Leprechaunism ( INSR)
Leri-Weill dyschondrosteosis ( SHOX)
Leri-Weill dyschondrosteosis ( SHOXY)
Lesch-Nyhan syndrome ( HPRT1)
Lethal congenital contractural syndrome 2 ( ERBB3)
Lethal congenital contractural syndrome 3 ( PIP5K1C)
Lethal congenital contracture syndrome 1 ( GLE1)
Leukocyte adhesion deficiency ( ITGB2)
Leukocyte adhesion deficiency, type III ( KIND3)
Leukodystrophy, adult-onset, autosomal dominant ( LMNB1)
Leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia ( FA2H)
Leukodystrophy, hypomyelinating, 2 ( GJC2)
Leukodystrophy, hypomyelinating, 4 ( HSPD1)
Leukodystrophy, hypomyelinating, 5 ( FAM126A)
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation ( DARS2)
Leukoencephalopathy with vanishing white matter ( EIF2B1)
Leukoencephalopathy with vanishing white matter ( EIF2B2)
Leukoencephalopathy with vanishing white matter ( EIF2B3)
Leukoencephalopathy with vanishing white matter ( EIF2B5)
Leukoencephalopathy, cystic, without megalencephaly ( RNASET2)
Leukoencephaly with vanishing white matter ( EIF2B4)
Leydig cell hypoplasia with hypergonadotropic hypogonadism ( LHCGR)
Leydig cell hypoplasia with pseudohermaphroditism ( LHCGR)
Lhermitte-Duclos syndrome ( PTEN)
Liddle syndrome ( SCNN1B)
Liddle syndrome ( SCNN1G)
Li-Fraumeni syndrome ( CDKN2A)
Li-Fraumeni syndrome ( TP53)
Li-Fraumeni syndrome ( CHEK2)
Li-Fraumeni-like syndrome ( TP53)
LIG4 syndrome ( LIG4)
Limb-mammary syndrome ( TP63)
Lipase deficiency, combined ( LMF1)
Lipodystrophy, congenital generalized, type 1 ( AGPAT2)
Lipodystrophy, congenital generalized, type 2 ( BSCL2)
Lipodystrophy, congenital generalized, type 3 ( CAV1)
Lipodystrophy, congenital generalized, type 4 ( PTRF)
Lipodystrophy, familial partial ( LMNA)
Lipodystrophy, familial partial, type 3 ( PPARG)
Lipodystrophy, partial, acquired ( LMNB2)
Lipoid adrenal hyperplasia ( STAR)
Lipoid congenital adrenal hyperplasia ( CYP11A)
Lipoid proteinosis ( ECM1)
Lipoprotein glomerulopathy ( APOE)
Lipoprotein lipase deficiency ( LPL)
Lissencephaly 3 ( TUBA1A)
Lissencephaly syndrome, Norman-Roberts type ( RELN)
Lissencephaly, X-linked ( DCX)
Lissencephaly, X-linked 2 ( ARX)
Lissencephaly-1 ( PAFAH1B1)
Liver failure, acute infantile ( TRMU)
Loeys-Dietz syndrome, type 1A ( TGFBR1)
Loeys-Dietz syndrome, type 1B ( TGFBR2)
Loeys-Dietz syndrome, type 2A ( TGFBR1)
Loeys-Dietz syndrome, type 2B ( TGFBR2)
Long QT syndrome 12 ( SNT1)
Long QT syndrome 13 ( KCNJ5)
Long QT syndrome-1 ( KCNQ1)
Long QT syndrome-10 ( SCN4B)
Long QT syndrome-11 ( AKAP9)
Long QT syndrome-3 ( SCN5A)
Long QT syndrome-4 ( ANK2)
Long QT syndrome-7 ( KCNJ2)
Long QT syndrome-9 ( CAV3)
Lowe syndrome ( OCRL)
Lujan-Fryns syndrome ( MED12)
Luteinizing hormone resistance, female ( LHCGR)
Lymphangioleiomyomatosis ( TSC1)
Lymphedema, hereditary I ( FLT4)
Lymphedema, hereditary, IC ( GJC2)
Lymphedema-distichiasis syndrome ( FOXC2)
Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus ( FOXC2)
Lymphoma, non-Hodgkin ( PRF1)
Lymphoproliferative syndrome, EBV-associated, autosomal, 1 ( ITK)
Lymphoproliferative syndrome, X-linked ( SH2D1A)
Lymphoproliferative syndrome, X-linked, 2 ( BIRC4)
Lysinuric protein intolerance ( SLC7A7)
Lysosomal acid phosphatase deficiency ( ACP2)
Lysyl hydroxylase 3 deficiency ( PLOD3)
Machado-Joseph disease ( ATXN3)
Macrocephaly, alopecia, cutis laxa, and scoliosis ( RIN2)
Macrocephaly/autism syndrome ( PTEN)
Macrothrombocytopenia ( GATA1)
Macrothrombocytopenia and progressive sensorineural deafness ( MYH9)
Macrothrombocytopenia, autosomal dominant, TUBB1-related ( TUBB1)
Macular corneal dystrophy ( CHST6)
Macular degeneration juvenile ( CNGB3)
Macular degeneration, age-related, 11 ( CST3)
Macular degeneration, age-related, 2 ( ABCA4)
Macular degeneration, age-related, 3 ( FBLN5)
Macular dystrophy, autosomal dominant, chromosome 6-linked ( ELOVL4)
Macular dystrophy, patterned ( PRPH2)
Macular dystrophy, retinal, 2 ( PROM1)
Macular dystrophy, vitelliform ( PRPH2)
Majeed syndrome ( LPIN2)
Major depressive disorder 1 ( MDD1)
Major depressive disorder 2 ( MDD2)
Male infertility with large-headed, multiflagellar, polyploid spermatozoa ( STK13)
Male infertility, nonsyndromic, autosomal recessive ( CATSPER1)
Malonyl-CoA decarboxylase deficiency ( MLYCD)
Mandibuloacral dysplasia ( LMNA)
Mandibuloacral dysplasia with type B lipodystrophy ( ZMPSTE24)
Mannosidosis, alpha-, types I and II ( MAN2B1)
Mannosidosis, beta ( MANBA)
Maple syrup urine disease, type Ia ( BCKDHA)
Maple syrup urine disease, type Ib ( BCKDHB)
Maple syrup urine disease, type II ( DBT)
Maple syrup urine disease, type III ( DLD)
Marfan syndrome ( FBN1)
Marinesco-Sjogren syndrome ( SIL1)
Maroteaux-Lamy syndrome, several forms ( ARSB)
Marshall syndrome ( COL11A1)
Martsolf syndrome ( RAB3GAP2)
MASA syndrome ( L1CAM)
MASS syndrome ( FBN1)
Mast syndrome ( ACP33)
Maturity-onset diabetes of the young 6 ( NEUROD1)
Maturity-onset diabetes of the young, type 10 ( INS)
Maturity-onset diabetes of the young, type 11 ( BLK)
Maturity-onset diabetes of the young, type IX ( PAX4)
Maturity-onset diabetes of the young, type VII ( KLF11)
Maturity-onset diabetes of the young, type VIII ( CEL)
May-Hegglin anomaly ( MYH9)
McArdle disease ( PYGM)
McCune-Albright syndrome ( GNAS)
McKusick-Kaufman syndrome ( MKKS)
Meacham syndrome ( WT1)
Meckel syndrome 7 ( NPHP3)
Meckel syndrome type 4 ( CEP290)
Meckel syndrome, type 1 ( MKS1)
Meckel syndrome, type 3 ( TMEM67)
Meckel syndrome, type 5 ( RPGRIP1L)
Meckel syndrome, type 6 ( CC2D2A)
Medullary cystic kidney disease 2 ( UMOD)
Medullary thyroid carcinoma ( RET)
Medullary thyroid carcinoma, familial ( NTRK1)
Medulloblastoma ( PTCH2)
Medulloblastoma, desmoplastic ( SUFU)
Meesmann corneal dystrophy ( KRT12)
Meesmann corneal dystrophy ( KRT3)
Megalencephalic leukoencephalopathy with subcortical cysts ( MLC1)
Megaloblastic anemia-1, Finnish type ( CUBN)
Megaloblastic anemia-1, Norwegian type ( AMN)
Melanoma ( CDK4)
Melanoma and neural system tumor syndrome ( CDKN2A)
Melanoma, cutaneous malignant, 2 ( CDKN2A)
Meleda disease ( SLURP1)
Melnick-Needles syndrome ( FLNA)
Melorheostosis with osteopoikilosis ( LEMD3)
Membranoproliferative glomerulonephritis with CFH deficiency ( HF1)
Meningioma ( MN1)
Menkes disease ( ATP7A)
Mental retardation and microcephaly with pontine and cerebellar hypoplasia ( CASK)
Mental retardation in cri-du-chat syndrome ( CTNND2)
Mental retardation syndrome, X-linked, Cabezas type ( CUL4B)
Mental retardation syndrome, X-linked, Siderius type ( PHF8)
Mental retardation, autosomal dominant 1 ( MBD5)
Mental retardation, autosomal dominant 3 ( CDH15)
Mental retardation, autosomal dominant 4 ( KIRREL3)
Mental retardation, autosomal dominant 5 ( SYNGAP)
Mental retardation, autosomal recessive 1 ( PRSS12)
Mental retardation, autosomal recessive 13 ( TRAPPC9)
Mental retardation, autosomal recessive 2A ( CRBN)
Mental retardation, autosomal recessive 3 ( CC2D1A)
Mental retardation, autosomal recessive 7 ( TUSC3)
Mental retardation, autosomal recessive, 6 ( GRIK2)
Mental retardation, FRA12A type ( DIP2B)
Mental retardation, joint hypermobility and skin laxity, with or without metabolic abnormalities ( PYCS)
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations ( MEF2C)
Mental retardation, truncal obesity, retinal dystrophy, and micropenis ( INPP5E)
Mental retardation, X-linked ( NLGN4)
Mental retardation, X-linked 1 ( IQSEC2)
Mental retardation, X-linked 17/31, microduplication ( HSD17B10)
Mental retardation, X-linked 30 ( PAK3)
Mental retardation, X-linked 36/43/54 ( ARX)
Mental retardation, X-linked 45 ( ZNF81)
Mental retardation, X-linked 58 ( TM4SF2)
Mental retardation, X-linked 59 ( AP1S2)
Mental retardation, X-linked 93 ( BRWD3)
Mental retardation, X-linked 94 ( GRIA3)
Mental retardation, X-linked 95 ( MAGT1)
Mental retardation, X-linked nonspecific ( GDI1)
Mental retardation, X-linked nonspecific, 63 ( ACSL4)
Mental retardation, X-linked nonspecific, type 46 ( ARHGEF6)
Mental retardation, X-linked syndromic 10 ( HSD17B10)
Mental retardation, X-linked syndromic, Christianson type ( SLC9A6)
Mental retardation, X-linked syndromic, Turner type ( HUWE1)
Mental retardation, X-linked, 21/34 ( IL1RAPL1)
Mental retardation, X-linked, FRAXE type ( AFF2)
Mental retardation, X-linked, Lubs type ( MECP2)
Mental retardation, X-linked, Snyder-Robinson type ( SMS)
Mental retardation, X-linked, syndromic 13 ( MECP2)
Mental retardation, X-linked, syndromic 14 ( UPF3B)
Mental retardation, X-linked, syndromic, JARID1C-related ( KDM5C)
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance ( OPHN1)
Mental retardation, X-linked, with epilepsy ( ATP6AP2)
Mental retardation, X-linked, with isolated growth hormone deficiency ( SOX3)
Mental retardation, X-linked, with or without epilepsy ( SYP)
Mental retardation, X-linked, ZDHHC9-related ( ZDHHC9)
Mental retardation, X-linked-72 ( RAB39B)
Mental retardation, X-linked-9 ( FTSJ1)
Mental retardation, X-linked-91 ( ZDHHC15)
Mental retardation-hypotonic facies syndrome, X-linked ( ATRX)
Mental retardation-hypotonic facies syndrome, X-linked, 2 ( CUL4B)
Mephenytoin poor metabolizer ( CYP2C)
Metachondromatosis ( PTPN11)
Metachromatic leukodystrophy ( ARSA)
Metachromatic leukodystrophy due to SAP-b deficiency ( PSAP)
Metaphyseal anadysplasia 1 ( MMP13)
Metaphyseal anadysplasia 2 ( MMP9)
Metaphyseal chondrodysplasia, Murk Jansen type ( PTHR1)
Metaphyseal dysplasia without hypotrichosis ( RMRP)
Metatropic dysplasia ( TRPV4)
Methemoglobinemia, type I ( CYB5R3)
Methemoglobinemia, type II ( CYB5R3)
Methemoglobinemia, type IV ( CYB5A)
Methionine adenosyltransferase deficiency, autosomal recessive ( MAT1A)
Methylcobalamin deficiency, cblG type ( MTR)
Methylmalonic aciduria and homocystinuria, cblC type ( MMACHC)
Methylmalonic aciduria and homocystinuria, cblD type ( C2orf25)
Methylmalonic aciduria and homocystinuria, cblF type ( LMBRD1)
Methylmalonic aciduria due to transcobalamin receptor defect ( CD320)
Methylmalonic aciduria, cblD type, variant 2 ( C2orf25)
Methylmalonic aciduria, vitamin B12-responsive ( MMAA)
Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type ( MMAB)
Methylmalonyl-CoA epimerase deficiency ( MCEE)
Mevalonic aciduria ( MVK)
MHC class II deficiency, complementation group B ( RFXANK)
Micochondrial phosphate carrier deficiency ( SLC25A3)
Microcephalic osteodysplastic primordial dwarfism type II ( PCNT)
Microcephaly and digital abnormalities with normal intelligence ( MYCN)
Microcephaly, Amish type ( SLC25A19)
Microcephaly, autosomal recessive 1 ( MCPH1)
Microcephaly, primary autosomal recessive, 2 ( MCPH2)
Microcephaly, primary autosomal recessive, 3 ( CDK5RAP2)
Microcephaly, primary autosomal recessive, 4 ( MCPH4)
Microcephaly, primary autosomal recessive, 5, with or without simplified gyral pattern ( ASPM)
Microcephaly, primary autosomal recessive, 6 ( CEMPJ)
Microcephaly, primary autosomal recessive, 7 ( STIL)
Microcephaly, seizures, and developmental delaty ( PNKP)
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma ( BEST1)
Microphthalmia, isolated 2 ( CHX10)
Microphthalmia, isolated 3 ( RAX)
Microphthalmia, isolated 4 ( GDF6)
Microphthalmia, isolated 5 ( MFRP)
Microphthalmia, isolated, with cataract 2 ( SIX6)
Microphthalmia, isolated, with cataract 4 ( CRYBA4)
Microphthalmia, isolated, with coloboma 3 ( CHX10)
Microphthalmia, isolated, with coloboma 5 ( SHH)
Microphthalmia, syndromic 2 ( BCOR)
Microphthalmia, syndromic 3 ( SOX2)
Microphthalmia, syndromic 5 ( OTX2)
Microphthalmia, syndromic 6 ( BMP4)
Microphthalmia, syndromic 7 ( HCCS)
Microphthalmia, syndromic 9 ( STRA6)
Microtia, hearing impairment, and cleft palate ( HOXA2)
Microvillus inclusion disease ( MYO5B)
Migraine, familial basilar ( ATP1A2)
Migraine, familial hemiplegic, 2 ( ATP1A2)
Migraine, familial hemiplegic, 3 ( SCN1A)
Migraine, resistance to ( EDNRA)
Miller syndrome ( DHODH)
Minicore myopathy with external ophthalmoplegia ( RYR1)
Mirror movements, congenital ( DCC)
Mirror-image polydactyly ( MIPOL1)
Mismatch repair cancer syndrome ( MLH1)
Mismatch repair cancer syndrome ( MSH2)
Mismatch repair cancer syndrome ( MSH6)
Mismatch repair cancer syndrome ( PMS2)
Mitochondrial complex 1 deficiency ( C20orf7)
Mitochondrial complex I deficiency ( NDUFA1)
Mitochondrial complex I deficiency ( NDUFA11)
Mitochondrial complex I deficiency ( NDUFAF2)
Mitochondrial complex I deficiency ( NDUFAF3)
Mitochondrial complex I deficiency ( NDUFAF4)
Mitochondrial complex I deficiency ( NDUFS1)
Mitochondrial complex I deficiency ( NDUFS2)
Mitochondrial complex I deficiency ( NDUFS4)
Mitochondrial complex I deficiency ( NDUFV1)
Mitochondrial complex I deficiency ( NDUFV2)
Mitochondrial complex II deficiency ( SDHAF1)
Mitochondrial complex III deficiency ( BCS1L)
Mitochondrial complex III deficiency ( UQCRB)
Mitochondrial complex III deficiency ( UQCRQ)
Mitochondrial complex IV deficiency ( FASTKD2)
Mitochondrial DNA depletion syndrome, encephalomyopathic form, with methylmalonic aciduria ( SUCLA2)
Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy ( RRM2B)
Mitochondrial DNA depletion syndrome, hepatocerebral form ( C10orf2)
Mitochondrial DNA depletion syndrome, hepatocerebral form ( MPV17)
Mitochondrial DNA depletion syndrome, myopathic form ( TK2)
Mitochondrial DNA-depletion syndrome, hepatocerebral form ( DGUOK)
Mitochondrial myopathy and sideroblastic anemia ( PUS1)
Mitochondrial neurogastrointestinal encephalomyopathy syndrome ( TYMP)
Mitochondrial respiratory chain complex II deficiency ( SDHA)
Miyoshi muscular dystrophy 3 ( ANO5)
Miyoshi myopathy ( DYSF)
MNGIE without leukoencephalopathy ( POLG)
MODY, type I ( HNF4A)
MODY, type II ( GCK)
MODY, type III ( HNF1A)
MODY, type IV ( IPF1)
MOEBIUS SYNDROME; MBS (PLXND1)
MOEBIUS SYNDROME; MBS (REV3L)
Mohr-Tranebjaerg syndrome ( TIMM8A)
Molybdenum cofactor deficiency, type A ( MOCS1)
Molybdenum cofactor deficiency, type B ( MOCS2)
Molybdenum cofactor deficiency, type C ( GPHN)
Monilethrix ( KRT81)
Monilethrix ( KRT83)
Monilethrix ( KRT86)
Mononeuropathy of the median nerve, mild ( SH3TC2)
Morning glory disc anomaly ( PAX6)
Morquio syndrome B ( GLB1)
Mosaic variegated aneuploidy syndrome ( BUB1B)
Mowat-Wilson syndrome ( ZEB2)
Muckle-Wells syndrome ( NLRP3)
Mucolipidosis II alpha/beta ( GNPTAB)
Mucolipidosis III alpha/beta ( GNPTAB)
Mucolipidosis III gamma ( GNPTAG)
Mucolipidosis IV ( MCOLN1)
Mucopolysaccharidosis Ih ( IDUA)
Mucopolysaccharidosis Ih/s ( IDUA)
Mucopolysaccharidosis Is ( IDUA)
Mucopolysaccharidosis IVA ( GALNS)
Mucopolysaccharidosis type IIID ( GNS)
Mucopolysaccharidosis type IX ( HYAL1)
Mucopolysaccharidosis VII ( GUSB)
Muenke syndrome ( FGFR3)
Muir-Torre syndrome ( MLH1)
Muir-Torre syndrome ( MSH2)
Mulibrey nanism ( TRIM37)
Mullerian aplasia and hyperandrogenism ( WNT4)
Multiple cutaneous and uterine leiomyomata ( FH)
Multiple endocrine neoplasia IIA ( RET)
Multiple endocrine neoplasia IIB ( RET)
Multiple endocrine neoplasia, type IV ( CDKN1B)
Multiple pterygium syndrome, lethal type ( CHRNA1)
Multiple pterygium syndrome, lethal type ( CHRND)
Multiple pterygium syndrome, lethal type ( CHRNG)
Multiple sulfatase deficiency ( SUMF1)
Multiple synostoses syndrome 3 ( FGF9)
Muscle glycogenosis ( PHKA1)
Muscular dystrophy with epidermolysis bullosa simplex ( PLEC1)
Muscular dystrophy, congenital merosin-deficient ( LAMA2)
Muscular dystrophy, congenital, due to ITGA7 deficiency ( ITGA7)
Muscular dystrophy, congenital, due to partial LAMA2 deficiency ( LAMA2)
Muscular dystrophy, limb-girdle, type 1A ( TTID)
Muscular dystrophy, limb-girdle, type 1B ( LMNA)
Muscular dystrophy, limb-girdle, type 2A ( CAPN3)
Muscular dystrophy, limb-girdle, type 2B ( DYSF)
Muscular dystrophy, limb-girdle, type 2C ( SGCG)
Muscular dystrophy, limb-girdle, type 2D ( SGCA)
Muscular dystrophy, limb-girdle, type 2E ( SGCB)
Muscular dystrophy, limb-girdle, type 2F ( SGCD)
Muscular dystrophy, limb-girdle, type 2G ( TCAP)
Muscular dystrophy, limb-girdle, type 2H ( TRIM32)
Muscular dystrophy, limb-girdle, type 2J ( TTN)
Muscular dystrophy, limb-girdle, type 2L ( ANO5)
Muscular dystrophy, limb-girdle, type IC ( CAV3)
Muscular dystrophy, rigid spine, 1 ( SEPN1)
Myasthenia, limb-girdle, familial ( AGRN)
Myasthenia, limb-girdle, familial ( DOK7)
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency ( CHRNB1)
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency ( CHRNE)
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency ( MUSK)
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency ( RAPSN)
Myasthenic syndrome, congenital, associated with episodic apnea ( CHAT)
Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency ( RAPSN)
Myasthenic syndrome, fast-channel congenital ( CHRNA1)
Myasthenic syndrome, fast-channel congenital ( CHRND)
Myasthenic syndrome, fast-channel congenital ( CHRNE)
Myasthenic syndrome, slow-channel congenital ( CHRNA1)
Myasthenic syndrome, slow-channel congenital ( CHRNB1)
Myasthenic syndrome, slow-channel congenital ( CHRND)
Myasthenic syndrome, slow-channel congenital ( CHRNE)
Mycobacterial infection, atypical, familial disseminated ( IFNGR1)
Mycobacterial infection, atypical, familial disseminated ( STAT1)
Myelofibrosis, idiopathic ( JAK2)
Myeloperoxidase deficiency ( MPO)
Myeloproliferative disorder with eosinophilia ( PDGFRB)
Myoclonic epilepsy, severe, of infancy ( GABRG2)
Myoglobinuria, acute recurrent, autosomal recessive ( LPIN1)
Myokymia with neonatal epilepsy ( KCNQ2)
Myopathy due to CPT II deficiency ( CPT2)
Myopathy with lactic acidosis, hereditary ( ISCU)
Myopathy, actin, congenital, with excess of thin myofilaments ( ACTA1)
Myopathy, cardioskeletal, desmin-related, with cataract ( CRYAB)
Myopathy, centronuclear ( DNM2)
Myopathy, centronuclear ( MYF6)
Myopathy, centronuclear, autosomal recessive ( BIN1)
Myopathy, congenital, Compton-North ( CNTN1)
Myopathy, congenital, with fiber-type disproportion 1 ( ACTA1)
Myopathy, desmin-related, cardioskeletal ( DES)
Myopathy, distal 2 ( MATR3)
Myopathy, distal, with anterior tibial onset ( DYSF)
Myopathy, early-onset, with fatal cardiomyopathy ( TTN)
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay ( GFER)
Myopathy, myofibrillar, BAG3-related ( BAG3)
Myopathy, myofibrillar, filamin C-related ( FLNC)
Myopathy, myofibrillar, ZASP-related ( LDB3)
Myopathy, myosin storage ( MYH7)
Myopathy, nemaline, 3 ( ACTA1)
Myopathy, proximal, with early respiratory muscle involvement ( TTN)
Myopathy, reducing body, X-linked, childhood-onset ( FHL1)
Myopathy, reducing body, X-linked, severe early-onset ( FHL1)
Myopathy, spheroid body ( TTID)
Myopathy, X-linked, with postural muscle atrophy ( FHL1)
Myosclerosis, congenital ( COL6A2)
Myotilinopathy ( TTID)
Myotonia congenita, atypical, acetazolamide-responsive ( SCN4A)
Myotonia congenita, dominant ( CLCN1)
Myotonia congenita, recessive ( CLCN1)
Myotonic dystrophy ( DMPK)
Myotonic dystrophy, type 2 ( ZNF9)
Myotubular myopathy, X-linked ( MTM1)
Myxoid liposarcoma ( DDIT3)
Myxoma, intracardiac ( PRKAR1A)
N syndrome ( POLA)
N-acetylglutamate synthase deficiency ( NAGS)
Naegeli-Franceschetti-Jadassohn syndrome ( KRT14)
Nail-patella syndrome ( LMX1B)
Nance-Horan syndrome ( NHS)
Narcolepsy 1 ( HCRT)
Nasopharyngeal carcinoma ( TP53)
Nasu-Hakola disease ( TREM2)
Nasu-Hakola disease ( TYROBP)
Naxos disease ( JUP)
Nemaline myopathy ( TPM2)
Nemaline myopathy 1, autosomal dominant ( TPM3)
Nemaline myopathy 2, autosomal recessive ( NEB)
Nemaline myopathy 7 ( CFL2)
Nemaline Myopathy, Amish Type ( TNNT1)
Nephrogenic syndrome of inappropriate antidiuresis ( AVPR2)
Nephrolithiasis, type I ( CLCN5)
Nephrolithiasis/osteoporosis, hypophosphatemic, 1 ( SLC34A1)
Nephrolithiasis/osteoporosis, hypophosphatemic, 2 ( SLC9A3R1)
Nephronophthisis 1, juvenile ( NPHP1)
Nephronophthisis 2, infantile ( INVS)
Nephronophthisis 3 ( NPHP3)
Nephronophthisis 4 ( NPHP4)
Nephronophthisis 7 ( GLIS2)
Nephropathy with pretibial epidermolysis bullosa and deafness ( CD151)
Nephrosis, congenital, with or without ocular abnormalities ( LAMB2)
Nephrotic syndrome, type 1 ( NPHS1)
Nephrotic syndrome, type 2 ( PDCN)
Nephrotic syndrome, type 3 ( PLCE1)
Nephrotic syndrome, type 4 ( WT1)
Netherton syndrome ( SPINK5)
Neural tube defects ( VANGL1)
Neuroblastoma ( NME1)
Neurodegeneration due to cerebral folate transport deficiency ( FOLR1)
Neurodegeneration with brain iron accumulation 1 ( PANK2)
Neurodegeneration with brain iron accumulation 2B ( PLA2G6)
Neurodegeneration with brain iron accumulation 3 ( FTL)
Neuroepithelioma ( EWSR1)
Neurofibromatosis type 1 ( NF1)
Neurofibromatosis type 2 ( NF2)
Neurofibromatosis, familial spinal ( NF1)
Neurofibromatosis-Noonan syndrome ( NF1)
Neuromuscular disease, congenital, with uniform type 1 fiber ( RYR1)
Neuronopathy, distal hereditary motor, type IIC ( HSPB3)
Neuronopathy, distal hereditary motor, type VI ( IGHMBP2)
Neuropathy, congenital hypomyelinating ( MPZ)
Neuropathy, congenital hypomyelinating, 1 ( EGR2)
Neuropathy, distal hereditary motor, type IIA ( HSPB8)
Neuropathy, distal hereditary motor, type IIB ( HSPB1)
Neuropathy, distal hereditary motor, type V ( BSCL2)
Neuropathy, distal hereditary motor, type V ( GARS)
Neuropathy, distal hereditary motor, type VIIB ( DCTN1)
Neuropathy, hereditary sensory and autonomic, type 1 ( SPTLC1)
Neuropathy, hereditary sensory and autonomic, type II ( WNK1)
Neuropathy, hereditary sensory and autonomic, type IIB ( FAM134B)
Neuropathy, hereditary sensory and autonomic, type V ( NGFB)
Neuropathy, hereditary sensory, with spastic paraplegia ( CCT5)
Neuropathy, hereditary sensory/autonomic, type IC ( SPTLC2)
Neuropathy, recurrent, with pressure palsies ( PMP22)
Neutral lipid storage disease with myopathy ( PNPLA2)
Neutropenia, nonimmune chronic idiopathic, of adults ( GFI1)
Neutropenia, severe congenital, autosomal dominant 1 ( ELANE)
Neutropenia, severe congenital, autosomal dominant 2 ( GFI1)
Neutropenia, severe congenital, autosomal recessive 3 ( HAX1)
Neutropenia, severe congenital, autosomal recessive 4 ( G6PC3)
Neutropenia, severe congenital, X-linked ( WAS)
Neutrophil immunodeficiency syndrome ( RAC2)
Neutrophilia, hereditary ( CSF3R)
Nevo syndrome ( PLOD)
Nevus, epidermal ( PIK3CA)
Nevus, epidermal, epidermolytic hyperkeratotic type ( KRT10)
Nevus, keratinocytic, nonepidermolytic ( FGFR3)
Newfoundland rod-cone dystrophy ( RLBP1)
Niemann-Pick disease type D ( NPC1)
Niemann-Pick disease, type A ( SMPD1)
Niemann-Pick disease, type B ( SMPD1)
Niemann-Pick disease, type C1 ( NPC1)
Niemann-pick disease, type C2 ( NPC2)
Night blindness, congenital stationary, autosomal dominant 2 ( PDE6B)
Night blindness, congenital stationary, autosomal dominant 3 ( GNAT1)
Night blindness, congenital stationary, type 1 ( CSNB1)
Night blindness, congenital stationary, type 1B ( GRM6)
Night blindness, congenital stationary, type 2B ( CABP4)
Night blindness, congenital stationary, type IC ( TRPM1)
Night blindness, congenital stationary, X-linked, type 2A ( CACNA1F)
Night blindness, congenital stationery, autosomal dominant 1 ( RHO)
Nijmegen breakage syndrome ( NBS1)
Nijmegen breakage syndrome-like disorder ( RAD50)
Nonaka Myopathy ( GNE)
Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in ( EGFR)
Noonan syndrome 1 ( PTPN11)
Noonan syndrome 3 ( KRAS)
Noonan syndrome 4 ( SOS1)
Noonan syndrome 5 ( RAF1)
Noonan syndrome 6 ( NRAS)
Noonan-like syndrome with loose anagen hair ( SHOC2)
Norrie disease ( NDP)
Norum disease ( LCAT)
Nystagmus 1, congenital, X-linked ( FRMD7)
Nystagmus 6, congenital, X-linked ( GPR143)
Obesity with impaired prohormone processing ( PCSK1)
Obesity, adrenal insufficiency, and red hair due to POMC deficiency ( POMC)
Obesity, autosomal dominant ( MC4R)
Obesity, mild, early-onset ( NR0B2)
Obesity, severe ( PPARG)
Obesity, severe ( SIM1)
Occipital horn syndrome ( ATP7A)
Ocular albinism, type I, Nettleship-Falls type ( GPR143)
Oculoauricular syndrome ( HMX1)
Oculocutaneous albinism, type IV ( SLC45A2)
Oculodentodigital dysplasia ( GJA1)
Oculodentodigital dysplasia, autosomal recessive ( GJA1)
Oculopharyngeal muscular dystrophy ( PABPN1)
Odontohypophosphatasia ( ALPL)
Odontoonychodermal dysplasia ( WNT10A)
Ogden Syndrome ( NAA10)
Oguchi disease-1 ( SAG)
Oguchi disease-2 ( GRK1)
OI type II ( COL1A1)
OI type III ( COL1A1)
OI type IV ( COL1A1)
Oligodontia-colorectal cancer syndrome ( AXIN2)
Omenn syndrome ( DCLRE1C)
Omenn syndrome ( RAG1)
Omenn syndrome ( RAG2)
Omodysplasia 1 ( GPC6)
Opitz G syndrome, type I ( MID1)
Opitz-Kaveggia syndrome ( MED12)
Opremazole poor metabolizer ( CYP2C)
Optic atrophy 1 ( OPA1)
Optic atrophy and cataract ( OPA3)
Optic atrophy and deafness ( OPA1)
Optic atrophy-7 ( TMEM126A)
Optic nerve coloboma with renal disease ( PAX2)
Optic nerve hypoplasia ( PAX6)
Optic nerve hypoplasia and abnormalities of the central nervous system ( SOX2)
Oral-facial-digital syndrome 1 ( OFD1)
Ornithine transcarbamylase deficiency ( OTC)
Orofacial cleft 11 ( BMP4)
Orofacial cleft 5 ( MSX1)
Orofacial cleft 6 ( IRF6)
Orofacial cleft 7 ( HVEC)
Orofacial cleft 8 ( TP63)
Orthostatic intolerance ( SLC6A2)
Osseous heteroplasia, progressive ( GNAS)
Ossification of posterior longitudinal ligament of spine ( ENPP1)
Osteoarthritis with mild chondrodysplasia ( COL2A1)
Osteochondritis dissecans, short stature, and early-onset osteoarthritis ( ACAN)
Osteogenesis imperfecta, type I ( COL1A1)
Osteogenesis imperfecta, type II ( COL1A2)
Osteogenesis imperfecta, type IIB ( CRTAP)
Osteogenesis imperfecta, type III ( COL1A2)
Osteogenesis imperfecta, type IV ( COL1A2)
Osteogenesis imperfecta, type IX ( PPIB)
Osteogenesis imperfecta, type VI ( FKBP10)
Osteogenesis imperfecta, type VII ( CRTAP)
Osteogenesis imperfecta, type VIII ( LEPRE1)
Osteoglophonic dysplasia ( FGFR1)
Osteolysis, familial expansile ( TNFRSF11A)
Osteopathia striata with cranial sclerosis ( FAM123B)
Osteopetrosis, AD type I ( LRP5)
Osteopetrosis, autosomal dominant 2 ( CLCN7)
Osteopetrosis, autosomal recessive 2 ( TNFSF11)
Osteopetrosis, autosomal recessive 3, with renal tubular acidosis ( CA2)
Osteopetrosis, autosomal recessive 4 ( CLCN7)
Osteopetrosis, autosomal recessive 5 ( OSTM1)
Osteopetrosis, autosomal recessive 6 ( PLEKHM1)
Osteopetrosis, autosomal recessive 7 ( TNFRSF11A)
Osteopetrosis, recessive 1 ( TCIRG1)
Osteopoikilosis ( LEMD3)
Osteoporosis, involutional ( VDR)
Osteoporosis-pseudoglioma syndrome ( LRP5)
Osteosarcoma ( LOH18CR1)
Osteosarcoma ( RB1)
Osteosarcoma ( TP53)
Osteosclerosis ( LRP5)
Otofaciocervical syndrome ( EYA1)
Otopalatodigital syndrome, type I ( FLNA)
Otopalatodigital syndrome, type II ( FLNA)
Otospondylomegaepiphyseal dysplasia ( COL11A2)
Ovarian cancer ( CTNNB1)
Ovarian dysgenesis 1 ( FSHR)
Ovarian dysgenesis 2 ( BMP15)
Ovarian hyperstimulation syndrome ( FSHR)
Ovarian response to FSH stimulation ( FSHR)
Ovarioleukodystrophy ( EIF2B2)
Ovarioleukodystrophy ( EIF2B4)
Ovarioleukodystrophy ( EIF2B5)
Pachyonychia congenita Jackson Lawler type ( KRT17)
Pachyonychia congenita Jackson Lawler type ( KRT6B)
Pachyonychia congenita, Jadassohn-Lewandowsky type ( KRT16)
Pachyonychia congenita, Jadassohn-Lewandowsky type ( KRT6A)
Paget disease of bone ( PDB4)
Paget disease of bone ( SQSTM1)
Paget disease of bone ( TNFRSF11A)
Paget disease, juvenile ( TNFRSF11B)
Pallister-Hall syndrome ( GLI3)
Palmoplantar hyperkeratosis and true hermaphroditism ( RSPO1)
Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal ( RSPO1)
Palmoplantar keratoderma, nonepidermolytic ( KRT16)
Palmoplantar keratoderma, nonepidermolytic, focal ( KRT16)
Palmoplantar verrucous nevus, unilateral ( KRT16)
Pancreatic agenesis ( IPF1)
Pancreatic cancer ( TP53)
Pancreatic cancer ( BRCA2)
Pancreatic cancer/melanoma syndrome ( CDKN2A)
Pancreatitis, hereditary ( PRSS1)
Pancreatitis, hereditary ( SPINK1)
Panhypopituitarism, X-linked ( SOX3)
Papillon-Lefevre syndrome ( CTSC)
Paraganglioma and gastric stromal sarcoma ( SDHB)
Paraganglioma and gastric stromal sarcoma ( SDHC)
Paraganglioma and gastric stromal sarcoma ( SDHD)
Paraganglioma, familial chromaffin, 4 ( SDHB)
Paragangliomas 2 ( SDHAF2)
Paragangliomas, familial nonchromaffin, 1, with or without deafness ( SDHD)
Paragangliomas, familial nonchromaffin, 3 ( SDHC)
Paramyotonia congenita ( SCN4A)
Parathyroid adenoma with cystic changes ( HRPT2)
Parathyroid carcinoma ( HRPT2)
Parietal foramina 1 ( MSX2)
Parietal foramina 2 ( ALX4)
Parietal foramina with cleidocranial dysplasia ( MSX2)
Parkes Weber slndrome ( RASA1)
Parkinson disease 11 ( GIGYF2)
Parkinson disease 13 ( HTRA2)
Parkinson disease 15, autosomal recessive ( FBXO7)
Parkinson disease 4 ( SNCA)
Parkinson disease 6, early onset ( PINK1)
Parkinson disease 7, autosomal recessive early-onset ( DJ1)
Parkinson disease 9 ( ATP13A2)
Parkinson disease, juvenile, type 2 ( PRKN)
Parkinson disease-8 ( LRRK2)
Parkinsonism-dystonia, infantile ( SLC6A3)
Paroxysmal extreme pain disorder ( SCN9A)
Paroxysmal nonkinesigenic dyskinesia ( MR1)
Partington syndrome ( ARX)
PCWH syndrome ( SOX10)
Peeling skin syndrome, acral type ( TGM5)
Pelger-Huet anomaly ( LBR)
Pelizaeus-Merzbacher disease ( PLP1)
Pendred syndrome ( SLC26A4)
Pentosuria ( DCXR)
Periodic fever, familial ( TNFRSF1A)
Periodontitis, juvenile ( CTSC)
Periventricular heterotopia with microcephaly ( ARFGEF2)
Peroxisomal acyl-CoA oxidase deficiency ( ACOX1)
Perry syndrome ( DCTN1)
Persistent Mullerian duct syndrome, type I ( AMH)
Persistent Mullerian duct syndrome, type II ( AMHR2)
Persistent truncus arteriosus ( NKX2-6)
Peters anomaly ( CYP1B1)
Peters anomaly ( PAX6)
Peters anomaly ( PITX2)
Peters-plus syndrome ( B3GALTL)
Peutz-Jeghers syndrome ( STK11)
Pfeiffer syndrome ( FGFR1)
Pfeiffer syndrome ( FGFR2)
Phenylketonuria ( PAH)
Pheochromocytoma ( KIF1B)
Pheochromocytoma ( RET)
Pheochromocytoma ( SDHB)
Pheochromocytoma ( SDHD)
Pheochromocytoma ( VHL)
Phosphoglycerate dehydrogenase deficiency ( PHGDH)
Phosphoglycerate kinase 1 deficiency ( PGK1)
Phosphoribosylpyrophosphate synthetase superactivity ( PRPS1)
Phosphorylase kinase deficiency of liver and muscle, autosomal recessive ( PHKB)
Phosphoserine aminotransferase deficiency ( PSAT1)
Pick disease ( MAPT)
Pick disease ( PSEN1)
Piebaldism ( SNAI2)
Pierson syndrome ( LAMB2)
Pigmented adrenocortical disease, primary, 1 ( PRKAR1A)
Pigmented nodular adrenocortical disease, primary, 2 ( PDE11A)
Pigmented paravenous chorioretinal atrophy ( CRB1)
Pilomatricoma ( CTNNB1)
Pitt-Hopkins like syndrome 1 ( CNTNAP2)
Pitt-Hopkins syndrome ( TCF4)
Pituitary adenoma, ACTH-secreting ( AIP)
Pituitary adenoma, growth hormone-secreting ( AIP)
Pituitary adenoma, prolactin-secreting ( AIP)
Pituitary hormone deficiency, combined, 1 ( POU1F1)
Pituitary hormone deficiency, combined, 2 ( PROP1)
Pituitary hormone deficiency, combined, 3 ( LHX3)
Pituitary hormone deficiency, combined, 4 ( LHX4)
Pituitary hormone deficiency, combined, 5 ( HESX1)
Plamoplantar keratoderma, epidermolytic ( KRT1)
Plasminogen activator inhibitor, type I ( PAI1)
Platelet disorder, familial, with associated myeloid malignancy ( RUNX1)
Platelet glycoprotein IV deficiency ( CD36)
Pleuropulmonary blastoma ( DICER1)
Pneumothorax, primary spontaneous ( FLCN)
Poikiloderma with neutropenia ( C16orf57)
Polycystic kidney and hepatic disease ( FCYT)
Polycystic kidney disease 2 ( PKD2)
Polycystic kidney disease, adult type I ( PKD1)
Polycystic liver disease ( PRKCSH)
Polycystic liver disease ( SEC63)
Polycystic ovary syndrome ( FST)
Polycythemia vera ( JAK2)
Polycythemia, benign familial ( VHL)
Polydactyly, postaxial, types A1 and B ( GLI3)
Polydactyly, preaxial type II ( LMBR1)
Polydactyly, preaxial, type IV ( GLI3)
Polyhydramnios, megalencephaly, and symptomatic epilepsy ( STRADA)
Polymicrogyria with optic nerve hypoplasia ( TUBA8)
Polymicrogyria, asymmetric ( TUBB2B)
Polymicrogyria, bilateral frontoparietal ( GPR56)
Polyposis syndrome, hereditary mixed, 2 ( BMPR1A)
Polyposis, juvenile intestinal ( BMPR1A)
Polyposis, juvenile intestinal ( MADH4)
Pontocerebellar hypoplasia type 1 ( VRK1)
Pontocerebellar hypoplasia type 2A ( TSEN54)
Pontocerebellar hypoplasia type 2B ( TSEN2)
Pontocerebellar hypoplasia type 2C ( TSEN34)
Pontocerebellar hypoplasia type 4 ( TSEN54)
Pontocerebellar hypoplasia, type 6 ( RARS2)
Popliteal pterygium syndrome ( IRF6)
POR deficiency ( POR)
Porencephaly ( COL4A1)
Porokeratosis, disseminated superficial actinic, 1 ( SART3)
Porphyria cutanea tarda ( UROD)
Porphyria variegata ( PPOX)
Porphyria, acute hepatic ( ALAD)
Porphyria, acute intermittent ( HMBS)
Porphyria, acute intermittent, nonerythroid variant ( HMBS)
Porphyria, congenital erythropoietic ( UROS)
Porphyria, hepatoerythropoietic ( UROD)
Precocious puberty, central ( KISS1R)
Precocious puberty, male ( LHCGR)
Premature chromosome condensation with microcephaly and mental retardation ( MCPH1)
Premature ovarian failure ( DIAPH2)
Premature ovarian failure 2B ( FLJ22792)
Premature ovarian failure 3 ( FOXL2)
Premature ovarian failure 4 ( BMP15)
Premature ovarian failure 5 ( NOBOX)
Premature ovarian failure 6 ( FIGLA)
Premature ovarian failure 7 ( NR5A1)
Primary lateral sclerosis, juvenile ( ALS2)
Prion disease with protracted course ( PRNP)
Progesterone resistance ( PGR)
Progressive external ophthalmoplegia with mitochondrial DNA deletions 3 ( SLC25A4)
Progressive external ophthalmoplegia with mitochondrial DNA deletions 3 ( C10orf2)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 ( POLG2)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5 ( RRM2B)
Progressive external ophthalmoplegia, autosomal dominant, with or without hypogonadism ( POLG)
Progressive external ophthalmoplegia, autosomal recessive ( POLG)
Progressive familial heart block, type IB ( TRPM4)
Proguanil poor metabolizer ( CYP2C)
Prolidase deficiency ( PEPD)
Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome ( FLVCR2)
Properdin deficiency, X-linked ( PFC)
Propionicacidemia ( PCCA)
Propionicacidemia ( PCCB)
Prostate cancer ( BRCA2)
Prostate cancer 1, 176807 ( RNASEL)
Prostate cancer, hereditary ( MSR1)
Prostate cancer, progression and metastasis of ( EPHB2)
Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis ( CLCN5)
Protoporphyria, erythropoietic, autosomal dominant ( FECH)
Protoporphyria, erythropoietic, autosomal recessive ( FECH)
Protoporphyria, erythropoietic, X-linked dominant ( ALAS2)
Proud syndrome ( ARX)
Pseudoachondroplasia ( COMP)
Pseudohermaphroditism, male, with gynecomastia ( HSD17B3)
Pseudohyperkalemia, familial ( DHS)
Pseudohypoaldosteronism type I, autosomal dominant ( NR3C2)
Pseudohypoaldosteronism type II ( WNK4)
Pseudohypoaldosteronism, type I ( SCNN1A)
Pseudohypoaldosteronism, type I ( SCNN1B)
Pseudohypoaldosteronism, type I ( SCNN1G)
Pseudohypoaldosteronism, type IIC ( WNK1)
Pseudohypoparathyroidism Ia ( GNAS)
Pseudohypoparathyroidism Ib ( GNAS)
Pseudohypoparathyroidism Ic ( GNAS)
Pseudohypoparathyroidism, type IB ( GNASAS)
Pseudohypoparathyroidism, type IB ( STX16)
Pseudovaginal perineoscrotal hypospadias ( SRD5A2)
Pseudoxanthoma elasticum ( ABCC6)
Pseudoxanthoma elasticum, forme fruste ( ABCC6)
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency ( GGCX)
Ptosis, congenital ( ZFHX4)
Pulmonary alveolar microlithiasis ( SLC34A2)
Pulmonary alveolar proteinosis ( CSF2RA)
Pulmonary fibrosis, idiopathic ( SFTPA2)
Pulmonary hypertension, familial primary ( BMPR2)
Pulmonary hypertension, primary ( MADH9)
Pulmonary hypertension, primary, fenfluramine-associated ( BMPR2)
Pulmonary veno occlusive disease ( BMPR2)
Pycnodysostosis ( CTSK)
Pyogenic bacterial infections, recurrent, due to MYD88 deficiency ( MYD88)
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne ( PSTPIP1)
Pyridoxamine 5′-phosphate oxidase deficiency ( PNPO)
Pyropoikilocytosis ( SPTA1)
Pyruvate carboxylase deficiency ( PC)
Pyruvate dehydrogenase deficiency ( PDHA1)
Pyruvate dehydrogenase E2 deficiency ( DLAT)
Pyruvate dehydrogenase phosphatase deficiency ( PDP1)
Pyruvate kinase deficiency ( PKLR)
Rabson-Mendenhall syndrome ( INSR)
Radioulnar synostosis with amegakaryocytic thrombocytopenia ( HOXA11)
Raine syndrome ( FAM20C)
RAPADILINO syndrome ( RECQL4)
Rapp-Hodgkin syndrome ( TP63)
Recombination rate QTL 1 ( RNF212)
Refsum disease ( PEX7)
Refsum disease ( PHYH)
Refsum disease, infantile ( PEX1)
Refsum disease, infantile form ( PEX26)
Refsum disease, infantile form ( PXMP3)
Renal adysplasia ( UPK3A)
Renal agenesis ( RET)
Renal cell carcinoma ( DIRC2)
Renal cell carcinoma ( HNF1A)
Renal cell carcinoma ( RNF139)
Renal cell carcinoma, papillary, 1 ( PRCC)
Renal cell carcinoma, papillary, 1 ( TFE3)
Renal cell carcinoma, papillary, familial and sporadic ( MET)
Renal cysts and diabetes syndrome ( HNF1B)
Renal glucosuria ( SLC5A2)
Renal tubular acidosis with deafness ( ATP6B1)
Renal tubular acidosis, distal, AD ( SLC4A1)
Renal tubular acidosis, distal, AR ( SLC4A1)
Renal tubular acidosis, distal, autosomal recessive ( ATP6V0A4)
Renal tubular acidosis, proximal, with ocular abnormalities ( SLC4A4)
Renal tubular dysgenesis ( ACE)
Renal tubular dysgenesis ( AGT)
Renal tubular dysgenesis ( AGTR1)
Renal tubular dysgenesis ( REN)
Renal-hepatic-pancreatic dysplasia ( NPHP3)
Renpenning syndrome ( PQBP1)
Restrictive dermopathy, lethal ( ZMPSTE24)
Reticular dysgenesis ( AK2)
Retinal cone dystrophy 3 ( PDE6H)
Retinal cone dystrophy 3B ( KCNV2)
Retinal cone dystrophy 4 ( CACNA2D4)
Retinal degeneration, late-onset, autosomal dominant ( C1QTNF5)
Retinal dystrophy, early-onset severe ( ABCA4)
Retinal dystrophy, early-onset severe ( LRAT)
Retinitis pigmentosa 33 ( SNRNP200)
Retinitis pigmentosa 51 ( TTC8)
Retinitis pigmentosa 54 ( C2orf71)
Retinitis pigmentosa 55 ( ARL6)
Retinitis pigmentosa 58 ( ZNF513)
Retinitis pigmentosa, concentric ( BEST1)
Retinitis pigmentosa, digenic ( PRPH2)
Retinitis pigmentosa, juvenile ( LRAT)
Retinitis pigmentosa, juvenile, autosomal recessive ( SPATA7)
Retinitis pigmentosa, late-onset dominant ( CRX)
Retinitis pigmentosa-1 ( RP1)
Retinitis pigmentosa-10 ( IMPDH1)
Retinitis pigmentosa-11 ( PRPF31)
Retinitis pigmentosa-12, autosomal recessive ( CRB1)
Retinitis pigmentosa-13 ( PRPF8)
Retinitis pigmentosa-14 ( TULP1)
Retinitis pigmentosa-17 ( CA4)
Retinitis pigmentosa-18 ( HPRP3)
Retinitis pigmentosa-19 ( ABCA4)
Retinitis pigmentosa-2 ( RP2)
Retinitis pigmentosa-25 ( EYS)
Retinitis pigmentosa-26 ( CERKL)
Retinitis pigmentosa-3 ( RPGR)
Retinitis pigmentosa-30 ( FSCN2)
Retinitis pigmentosa-31 ( TOPORS)
Retinitis pigmentosa-35 ( SEMA4A)
Retinitis pigmentosa-36 ( PRCD)
Retinitis pigmentosa-37 ( NR2E3)
Retinitis pigmentosa-38 ( MERTK)
Retinitis pigmentosa-39 ( USH2A)
Retinitis pigmentosa-41 ( PROM1)
Retinitis pigmentosa-42 ( KLHL7)
Retinitis pigmentosa-45 ( CNGB1)
Retinitis pigmentosa-50 ( BEST1)
Retinitis pigmentosa-7 ( PRPH2)
Retinitis pigmentosa-9 ( RP9)
Retinitis punctata albescens ( PRPH2)
Retinitis punctata albescens ( RLBP1)
Retinopathy of prematurity ( FZD4)
Rett syndrome ( MECP2)
Rett syndrome, congenital variant ( FOXG1B)
Rett syndrome, preserved speech variant ( MECP2)
Revesz syndrome ( TINF2)
Reynolds syndrome ( LBR)
Rhabdoid predisposition syndrome 1 ( SMARCB1)
Rhabdoid tumor predisposition syndrome 2 ( SMARCA4)
Rhabdomyosarcoma ( SLC22A1L)
Rhabdomyosarcoma 2, alveolar ( PAX3)
Rhabdomyosarcoma 2, alveolar ( PAX7)
Rhabdomyosarcoma, alveolar ( FOXO1A)
Rhizomelic chondrodysplasia punctata type 1 ( PEX7)
Rhizomelic chondrodysplasia punctata type 3 ( AGPS)
Ribose-5-phosphate isomerase deficiency ( RPIA)
Rickets due to defect in vitamin D 25-hydroxylation ( CYP2R1)
Rickets, vitamin D-resistant, type IIA ( VDR)
RIDDLE syndrome ( RNF168)
Rieger or Axenfeld anomalies ( FOXC1)
Ring dermoid of cornea ( PITX2)
Rippling muscle disease ( CAV3)
Rippling muscle disease-1 ( RMD1)
Roberts syndrome ( ESCO2)
Robinow syndrome, autosomal recessive ( ROR2)
Rolandic epilepsy, mental retardation, and speech dyspraxia ( SRPX2)
Rothmund-Thomson syndrome ( RECQL4)
Roussy-Levy syndrome ( MPZ)
Roussy-Levy syndrome ( PMP22)
Rubenstein-Taybi syndrome ( CREBBP)
Rubinstein-Taybi syndrome ( EP300)
Saccharopinuria ( AASS)
Saethre-Chotzen syndrome ( FGFR2)
Saethre-Chotzen syndrome ( TWIST1)
Saethre-Chotzen syndrome with eyelid anomalies ( TWIST1)
Salla disease ( SLC17A5)
Sandhoff disease, infantile, juvenile, and adult forms ( HEXB)
Sanfilippo syndrome, type A ( SGSH)
Sanfilippo syndrome, type B ( NAGLU)
Sanfilippo syndrome, type C ( HGSNAT)
Sarcoidosis, early-onset ( NOD2)
SC phocomelia syndrome ( ESCO2)
Scapuloperoneal myopathy, X-linked dominant ( FHL1)
Scapuloperoneal spinal muscular atrophy ( TRPV4)
Scapuloperoneal syndrome, myopathic type ( MYH7)
Scapuloperoneal syndrome, neurogenic, Kaeser type ( DES)
Schimke immunoosseous dysplasia ( SMARCAL1)
Schindler disease, type I ( NAGA)
Schindler disease, type III ( NAGA)
Schinzel-Giedion midface retraction syndrome ( SETBP1)
Schizencephaly ( EMX2)
Schizophrenia ( DISC2)
Schneckenbecken dysplasia ( SLC35D1)
Schöpf Schulz Passarge syndrome ( WNT10A)
Schwannomatosis ( NF2)
Schwartz-Jampel syndrome, type 1 ( HSPG2)
Sclerosteosis ( SOST)
Sea-blue histiocyte disease ( APOE)
Sebastian syndrome ( MYH9)
Seborrhea-like dermatitis with psoriasiform elements ( ZNF750)
Seckel syndrome 1 ( ATR)
SED congenita ( COL2A1)
Segawa syndrome, recessive ( TH)
Self-healing collodion baby ( TGM1)
SEMD, Pakistani type ( PAPSS2)
Senior-Loken syndrome 4 ( NPHP4)
Senior-Loken syndrome 5 ( IQCB1)
Senior-Loken syndrome 6 ( CEP290)
Senior-Loken syndrome-1 ( NPHP1)
Sensorineural deafness with mild renal dysfunction ( BSND)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ( POLG)
Septo-optic dysplasia ( HESX1)
SERKAL syndrome ( WNT4)
Sertoli-cell-only syndrome ( ZNF148)
SESAME syndrome ( KCNJ10)
Severe combined immunodeficiency due to ADA deficiency ( ADA)
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ( NHEJ1)
Severe combined immunodeficiency, Athabascan type ( DCLRE1C)
Severe combined immunodeficiency, B cell-negative ( RAG1)
Severe combined immunodeficiency, B cell-negative ( RAG2)
Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive ( CD3D)
Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive ( CD3E)
Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive ( PTPRC)
Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type ( IL7R)
Severe combined immunodeficiency, X-linked ( IL2RG)
Short QT syndrome-1 ( KCNH2)
Short QT syndrome-2 ( KCNQ1)
Short QT syndrome-3 ( KCNJ2)
Short rib-polydactyly syndrome, type III ( DYNC2H1)
Short stature ( GHSR)
Short stature, idiopathic ( GHR)
Short stature, idiopathic familial ( SHOX)
Short stature, idiopathic familial ( SHOXY)
Shprintzen-Goldberg syndrome ( FBN1)
Shwachman-Bodian-Diamond syndrome ( SBDS)
Sialic acid storage disorder, infantile ( SLC17A5)
Sialidosis, type I ( NEU1)
Sialidosis, type II ( NEU1)
Sialuria ( GNE)
Sick sinus syndrome 1 ( SCN5A)
Sick sinus syndrome 2 ( HCN4)
Sickle cell anemia ( HBB)
Silver spastic paraplegia syndrome ( BSCL2)
Silver-Russell syndrome ( H19)
Simpson-Golabi-Behmel syndrome, type 1 ( GPC3)
Simpson-Golabi-Behmel syndrome, type 2 ( OFD1)
Sitosterolemia ( ABCG5)
Sitosterolemia ( ABCG8)
Sjogren-Larsson syndrome ( ALDH3A2)
Skeletal defects, genital hypoplasia, and mental retardation ( ZBTB16)
Skin fragility-woolly hair syndrome ( DSP)
Skin/hair/eye pigmentation 9, dark/light hair ( ASIP)
Slowed nerve conduction velocity, AD ( ARHGEF10)
Small patella syndrome ( TBX4)
SMED, Strudwick type ( COL2A1)
Smith-Lemli-Opitz syndrome ( DHCR7)
Smith-Magenis syndrome ( RAI1)
Smith-McCort dysplasia ( DYM)
Snowflake vitreoretinal degeneration ( KCNJ13)
Solitary median maxillary central incisor ( SHH)
Somatostatin analog, resistance to ( SSTR5)
Sorsby fundus dystrophy ( TIMP3)
Sotos syndrome ( NSD1)
Spastic ataxia, Charlevoix-Saguenay type ( SACS)
Spastic paralysis, infantile onset ascending ( ALS2)
Spastic paraplegia 10 ( KIF5A)
Spastic paraplegia 15 ( ZFYVE26)
Spastic paraplegia 31 ( REEP1)
Spastic paraplegia 33 ( ZFYVE27)
Spastic paraplegia 39 ( PNPLA6)
Spastic paraplegia, 44 ( GJC2)
Spastic paraplegia-11 ( SPG11)
Spastic paraplegia-13 ( HSPD1)
Spastic paraplegia-2 ( PLP1)
Spastic paraplegia-3A ( SPG3A)
Spastic paraplegia-4 ( SPAST)
Spastic paraplegia-42 ( SLC33A1)
Spastic paraplegia-5A ( CYP7B1)
Spastic paraplegia-6 ( NIPA1)
Spastic paraplegia-7 ( PGN)
Spastic paraplegia-8 ( KIAA0196)
Specific granule deficiency ( CEBPE)
Speech-language disorder-1 ( FOXP2)
Spherocytosis, hereditary, type 5 ( EPB42)
Spherocytosis, type 1 ( ANK1)
Spherocytosis, type 3 ( SPTA1)
Spherocytosis, type 4 ( SLC4A1)
Spinal and bulbar muscular atrophy of Kennedy ( AR)
Spinal muscular atrophy, distal, autosomal recessive, 4 ( PLEKHG5)
Spinal muscular atrophy, distal, X-linked 3 ( ATP7A)
Spinal muscular atrophy, late-onset, Finkel type ( VAPB)
Spinal muscular atrophy, X-linked 2, infantile ( UBE1)
Spinal muscular atrophy-1 ( SMN1)
Spinal muscular atrophy-2 ( SMN1)
Spinal muscular atrophy-3 ( SMN1)
Spinal muscular atrophy-4 ( SMN1)
Split-hand/foot malformation 6 ( WNT10B)
Split-hand/foot malformation, type 4 ( TP63)
Spondylocarpotarsal synostosis syndrome ( FLNB)
Spondylocheirodysplasia, Ehlers-Danlos syndrome-like ( SLC39A13)
Spondylocostal dysostosis, autosomal recessive 2 ( MESP2)
Spondylocostal dysostosis, autosomal recessive 3 ( LFNG)
Spondylocostal dysostosis, autosomal recessive, 1 ( DLL3)
Spondylocostal dystostosis 4, autosomal dominant ( GDF6)
Spondyloepimetaphyseal dysplasia ( MATN3)
Spondyloepimetaphyseal dysplasia, aggrecan type ( ACAN)
Spondyloepimetaphyseal dysplasia, Missouri type ( MMP13)
Spondyloepiphyseal dysplasia tarda ( TRAPPC2)
Spondyloepiphyseal dysplasia tarda with progressive arthropathy ( WISP3)
Spondyloepiphyseal dysplasia with congenital joint dislocations ( CHST3)
Spondyloepiphyseal dysplasia, Kimberley type ( ACAN)
Spondylo-megaepiphyseal-metaphyseal dysplasia ( NKX3-2)
Spondylometaepiphyseal dysplasia, short limb-hand type ( DDR2)
Spondylometaphyseal dysplasia, Kozlowski type ( TRPV4)
Spondyloperipheral dysplasia ( COL2A1)
Squamous cell carcinoma, head and neck ( ING1)
Squamous cell carcinoma, head and neck ( TNFRSF10B)
Stapes ankylosis with broad thumb and toes ( NOG)
STAR syndrome ( FAM58A)
Stargardt disease 3 ( ELOVL4)
Stargardt disease 4 ( PROM1)
Stargardt disease-1 ( ABCA4)
Startle disease/hyperekplexia, autosomal dominant ( GLRA1)
Steatocystoma multiplex ( KRT17)
Stickler syndrome, type I ( COL2A1)
Stickler syndrome, type II ( COL11A1)
Stickler syndrome, type III ( COL11A2)
Stiff skin syndrome ( FBN1)
Stocco dos Santos X-linked mental retardation syndrome ( SHROOM4)
Stomach cancer ( KRAS)
Stomatocytosis I ( EPB72)
Striatal degeneration, autosomal dominant ( PDE8B)
Striatonigral degeneration, infantile ( NUP62)
Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome ( LIFR)
Subcortical laminal heteropia, X-linked ( DCX)
Succinic semialdehyde dehydrogenase deficiency ( ALDH5A1)
Succinyl-CoA:3-oxoacid CoA transferase deficiency ( OXCT1)
Sucrase-isomaltase deficiency, congenital ( SI)
Sudden infant death with dysgenesis of the testes syndrome ( TSPYL1)
Sulfite oxidase deficiency ( SUOX)
Supranuclear palsy, progressive ( MAPT)
Supranuclear palsy, progressive atypical ( MAPT)
Supravalvar aortic stenosis ( ELN)
Surfactant metabolism dysfunction, pulmonary, 1 ( SFTPB)
Surfactant metabolism dysfunction, pulmonary, 2 ( SFTPC)
Surfactant metabolism dysfunction, pulmonary, 3 ( ABCA3)
Sveinsson choreoretinal atrophy ( TEAD1)
Symphalangism, proximal ( GDF5)
Symphalangism, proximal ( NOG)
Syndactyly, type III ( GJA1)
Syndactyly, type IV ( LMBR1)
Syndactyly, type V ( HOXD13)
Synostoses syndrome, multiple, 1 ( NOG)
Synpolydactyly with foot anomalies ( HOXD13)
Synpolydactyly, 3/3’4, associated with metacarpal and metatarsal synostoses ( FBLN1)
Synpolydactyly, type II ( HOXD13)
Tangier disease ( ABCA1)
TARP syndrome ( RBM10)
Tarsal-carpal coalition syndrome ( NOG)
Tay-Sachs disease ( HEXA)
T-cell immunodeficiency, congenital alopecia, and nail dystrophy ( FOXN1)
Testicular microlithiasis ( SLC34A2)
Testicular tumor, sporadic ( STK11)
Tetra-amelia, autosomal recessive ( WNT3)
Tetralogy of Fallot ( GDF1)
Tetralogy of Fallot ( JAG1)
Tetralogy of Fallot ( ZFPM2)
Tetrology of Fallot ( NKX2E)
Thalassemia, alpha- ( HBA2)
Thalassemia, Hispanic gamma-delta-beta ( LCRB)
Thalassemia-beta, dominant inclusion-body ( HBB)
Thalassemias, alpha- ( HBA1)
Thalassemias, beta- ( HBB)
Thanatophoric dysplasia, type I ( FGFR3)
Thiamine-responsive megaloblastic anemia syndrome ( SLC19A2)
Three M syndrome 2 ( OBSL1)
Thrombocythemia, essential ( JAK2)
Thrombocythemia, essential ( MPL)
Thrombocythemia, essential ( THPO)
Thrombocytopenia 4 ( CYCS)
Thrombocytopenia with beta-thalassemia, X-linked ( GATA1)
Thrombocytopenia, congenital amegakaryocytic ( MPL)
Thrombocytopenia, X-linked ( WAS)
Thrombocytopenia, X-linked, intermittent ( WAS)
Thrombocytopenia-2 ( FLJ14813)
Thrombocytopenic purpura, autoimmune ( FCGR2C)
Thrombophilia due to elevated HRG ( HRG)
Thrombophilia due to heparin cofactor II deficiency ( HCF2)
Thrombophilia due to HRG deficiency ( HRG)
Thrombophilia due to protein C deficiency, autosomal dominant ( PROC)
Thrombophilia due to protein C deficiency, autosomal recessive ( PROC)
Thrombophilia due to protein S deficiency ( PROS1)
Thrombophilia, familial, due to decreased release of PLAT ( PLAT)
Thrombophilia, X-linked, due to factor IX defect ( F9)
Thrombosis, hyperhomocysteinemic ( CBS)
Thrombotic thrombocytopenic purpura, familial ( ADAMTS13)
Thryoid dyshormonogenesis 6 ( DUOX2)
Thyroid dyshormonogenesis 1 ( SLC5A5)
Thyroid dyshormonogenesis 2A ( TPO)
Thyroid dyshormonogenesis 3 ( TG)
Thyroid dyshormonogenesis 4 ( IYD)
Thyroid dyshormonogenesis 5 ( DUOXA2)
Thyroid hormone metabolism, abnormal ( SECISBP2)
Thyroid hormone resistance ( THRB)
Thyroid hormone resistance, autosomal recessive ( THRB)
Thyroid hormone resistance, selective pituitary ( THRB)
Thyroid papillary carcinoma ( CCDC6)
Tibial muscular dystrophy, tardive ( TTN)
Tietz albinism-deafness syndrome ( MITF)
Timothy syndrome ( CACNA1C)
Tn syndrome ( C1GALT1C1)
Toenail dystrophy, isolated ( COL7A1)
Tooth agenesis, selective, 1, with or without orofacial cleft ( MSX1)
Tooth agenesis, selective, 3 ( PAX9)
Tooth agenesis, selective, 6 ( LTBP3)
Tooth agenesis, selective, X-linked 1 ( ED1)
Torg-Winchester syndrome ( MMP2)
Tourette syndrome ( SLITRK1)
Townes-Brocks branchiootorenal-like syndrome ( SALL1)
Townes-Brocks syndrome ( SALL1)
Transaldolase deficiency ( TALDO1)
Transcobalamin II deficiency ( TCN2)
Transient bullous of the newborn ( COL7A1)
Transposition of the great arteries, dextro-looped 1 ( MED13L)
Treacher Collins mandibulofacial dysostosis ( TCOF1)
Trehalase deficiency ( TREH)
Trichodentoosseous syndrome ( DLX3)
Trichoepithelioma, multiple familial, 1 ( CYLD1)
Trichorhinophalangeal syndrome, type I ( TRPS1)
Trichorhinophalangeal syndrome, type III ( TRPS1)
Trichothiodystrophy ( ERCC2)
Trichothiodystrophy ( ERCC3)
Trichothiodystrophy, complementation group A ( GTF2H5)
Trichothiodystrophy, nonphotosensitive 1 ( C7orf11)
Trichotillomania ( SLITRK1)
Trifunctional protein deficiency ( HADHA)
Trifunctional protein deficiency ( HADHB)
Trigonocephaly ( FGFR1)
Trimethylaminuria ( FMO3)
Triphalangeal thumb, type I ( LMBR1)
Triphalangeal thumb-polysyndactyly syndrome ( LMBR1)
Trismus-pseudocamptodactyly syndrome ( MYH8)
Tropical calcific pancreatitis ( SPINK1)
Troyer syndrome ( SPG20)
Tuberous sclerosis-1 ( TSC1)
Tuberous sclerosis-2 ( TSC2)
Tumoral calcinosis, familial, normophosphatemic ( SAMD9)
Tumoral calcinosis, hyperphosphatemic ( KL)
Tumoral calcinosis, hyperphosphatemic, familial ( FGF23)
Tumoral calcinosis, hyperphosphatemic, familial ( GALNT3)
Tyrosine kinase 2 deficiency ( TYK2)
Tyrosinemia type II ( TAT)
Tyrosinemia type III ( HPD)
Ullrich congenital muscular dystrophy ( COL6A1)
Ullrich congenital muscular dystrophy ( COL6A2)
Ullrich congenital muscular dystrophy ( COL6A3)
Ulna and fibula, absence of, with sever limb deficiency ( WNT7A)
Ulnar-mammary syndrome ( TBX3)
Urocanase deficiency ( UROC1)
Urofacial syndrome ( HPSE2)
Usher syndrome, type 1B ( MYO7A)
Usher syndrome, type 1C ( USH1C)
Usher syndrome, type 1D ( CDH23)
Usher syndrome, type 1D/F digenic ( CDH23)
Usher syndrome, type 1D/F digenic ( PCDH15)
Usher syndrome, type 1F ( PCDH15)
Usher syndrome, type 1G ( SANS)
Usher syndrome, type 2A ( USH2A)
Usher syndrome, type 3 ( CLRN1)
Usher syndrome, type IIC ( GPR98)
Usher syndrome, type IID ( WHRN)
UV-sensitive syndrome ( ERCC6)
VACTERL association ( HOXD13)
Van Buchem disease ( SOST)
van Buchem disease, type 2 ( LRP5)
van der Woude syndrome ( IRF6)
Vasculopathy, retinal, with cerebral leukodystrophy ( TREX1)
VATER association with macrocephaly and ventriculomegaly ( PTEN)
Velocardiofacial syndrome ( TBX1)
Venous malformations, multiple cutaneous and mucosal ( TEK)
Ventricular fibrillation, familial, 1 ( SCN5A)
Ventricular fibrillation, paroxysmal familial, 2 ( DPP6)
Ventricular tachycardia, catecholaminergic polymorphic, 1 ( RYR2)
Ventricular tachycardia, catecholaminergic polymorphic, 2 ( CASQ2)
Ventricular tachycardia, idiopathic ( GNAI2)
Vertical talus, congenital ( HOXD10)
Vesicoureteral reflux 2 ( ROBO2)
Vitamin D-dependent rickets, type I ( CYP27B1)
Vitamin K-dependent clotting factors, combined deficiency of, 2 ( VKORC1)
Vitamin K-dependent coagulation defect ( GGCX)
Vitelliform macular dystrophy, adult-onset ( BEST1)
Vitreoretinochoroidopathy ( BEST1)
VLCAD deficiency ( ACADVL)
Vohwinkel syndrome ( GJB2)
Vohwinkel syndrome with ichthyosis ( LOR)
von Hippel-Lindau disease, modification of ( CCND1)
von Hippel-Lindau syndrome ( VHL)
von Willebrand disease, autosomal dominant ( VWF)
von Willebrand disease, autosomal recessive ( VWF)
von Willebrand disease, platelet-type ( GP1BA)
Waardenburg syndrome type 1 ( PAX3)
Waardenburg syndrome type 2D ( SNAI2)
Waardenburg syndrome type 2E, with or without neurologic involvement ( SOX10)
Waardenburg syndrome type 3 ( PAX3)
Waardenburg syndrome type 4A ( EDNRB)
Waardenburg syndrome type 4B ( EDN3)
Waardenburg syndrome type 4C ( SOX10)
Waardenburg syndrome type IIA ( MITF)
Waardenburg syndrome/albinism, digenic ( TYR)
Waardenburg syndrome/ocular albinism, digenic ( MITF)
Wagner syndrome 1 ( VCAN)
Warburg micro syndrome 1 ( RAB3GAP1)
Warfarin resistance ( VKORC1)
Warfarin sensitivity ( CYP2C9)
Warsaw breakage syndrome ( DDX11)
Watson syndrome ( NF1)
Weaver syndrome ( NSD1)
Weill-Marchesani syndrome, dominant ( FBN1)
Weill-Marchesani syndrome, recessive ( ADAMTS10)
Weill-Marchesani-like syndrome ( ADAMTS17)
Weissenbacher-Zweymuller syndrome ( COL11A2)
Werner syndrome ( RECQL2)
Weyers acrodental dysostosis ( EVC)
WHIM syndrome ( CXCR4)
White sponge nevus ( KRT13)
White sponge nevus ( KRT4)
Wilms tumor ( BRCA2)
Wilms tumor 2 ( H19)
Wilms tumor, type 1 ( WT1)
Wilson disease ( ATP7B)
Wiskott-Aldrich syndrome ( WAS)
Witkop syndrome ( MSX1)
Wolcott-Rallison syndrome ( EIF2AK3)
Wolff-Parkinson-White syndrome ( PRKAG2)
Wolfram syndrome ( WFS1)
Wolfram syndrome 2 ( CISD2)
Wolfram-like syndrome, autosomal dominant ( WFS1)
Wolman disease ( LIPA)
Woodhouse-Sakati syndrome ( C2orf37)
Woolly hair, autosomal dominant ( KRT74)
Woolly hair, autosomal recessive 1 ( P2RY5)
Woolly hair, autosomal recessive 2 with or without hypotrichosis ( LIPH)
Wrinkly skin syndrome ( ATP6V0A2)
Xanthinuria, type I ( XDH)
Xeroderma pigmentosum group A ( XPA)
Xeroderma pigmentosum group B ( ERCC3)
Xeroderma pigmentosum group C ( XPC)
Xeroderma pigmentosum group D ( ERCC2)
Xeroderma pigmentosum group E, DDB-negative subtype ( DDB2)
Xeroderma pigmentosum group F ( ERCC4)
Xeroderma pigmentosum group G ( ERCC5)
Xeroderma pigmentosum, variant type ( POLH)
XFE progeroid syndrome ( ERCC4)
X-inactivation, familial skewed ( XIC)
Zellweger syndrome ( PEX10)
Zellweger syndrome ( PEX13)
Zellweger syndrome ( PEX14)
Zellweger syndrome ( PEX26)
Zellweger syndrome ( PEX5)
Zellweger syndrome ( PXF)
Zellweger syndrome, complementation group G ( PEX3)
Zellweger syndrome-1 ( PEX1)

  • How to order
    Order form

    Place your order by email molekulargenetik@praenatal-medizin.de

  • Turnaround time
    2-3 weeks

  • Contact
    Priv.-Doz. Dr. med. M. Shoukier
    Dr. rer nat C. Bagowski molekulargenetik@praenatal-medizin.de

    Phone: ++49 89 130744-0
    Fax: ++49 89 130744-99

  • Ship the sample to our laboratory
    Material: DNA, Blood, Dried blood spot, Buccal swab, Chorionic villi (CVS), Amniotic fluid

    Shipping address:
    Pränatal-Medizin München
    Lachnerstr.20
    80639 München
    Germany


  • Order specimen kit with sample tube, requisition form and prepaid return envelope by email.