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Disorders

This page contains details of Online Mendelian Inheritance in Man (OMIM) disorders.

These can be searched alphabetically below or please use the search bar on the top left of the page to find genes more generally through part of the gene name or other characteristics.
 

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0-9

A

Abacavir hypersensitivity, susceptibility to (3)- HLA-B

Abdominal obesity-metabolic syndrome 3, 615812 (3)- DYRK1B

Acampomelic campomelic dysplasia, 114290 (3)- SOX9

Achondrogenesis, type II or hypochondrogenesis, 200610 (3)- COL2A1

Achondroplasia, 100800 (3)- FGFR3

Achromatopsia 2, 216900 (3)- CNGA3

Achromatopsia 3, 262300 (3)- CNGB3

Achromatopsia 4, 613856 (3)- GNAT2

Achromatopsia 6, 610024 (3)- PDE6H

Acne inversa, familial, 3, 613737 (3)- PSEN1

Acrodermatitis enteropathica, 201100 (3)- SLC39A4

Acrodysostosis 1, with or without hormone resistance, 101800 (3)- PRKAR1A

Acrokeratosis verruciformis, 101900 (3)- ATP2A2

Acromegaly, somatic, 102200 (3)- GNAS

Acromicric dysplasia, 102370 (3)- FBN1

ACTH-independent macronodular adrenal hyperplasia, 219080 (3)- GNAS

Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 (3)- ACADM

Adams-Oliver syndrome 5, 616028 (3)- NOTCH1

Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3)- EGFR

Adenocarcinoma of lung, somatic, 211980 (3)- BRAF

Adenocarcinoma of lung, somatic, 211980 (3)- ERBB2

Adenoma, periampullary, somatic (3)- APC

Adenomas, multiple colorectal, 608456 (3)- MUTYH

Adenomatous polyposis coli, 175100 (3)- APC

Adenosine deaminase deficiency, partial, 102700 (3)- ADA

Adrenal adenoma, somatic (3)- MEN1

Adrenal cortical carcinoma, 202300 (3)- TP53

Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 (3)- CYP11B1

Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3)- CYP21A2

Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, 201810 (3)- HSD3B2

Adrenal hypoplasia, congenital, 300200 (3)- NR0B1

Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3)- CYP11A1

Adrenocortical insufficiency, 612964 (3)- NR5A1

Adrenocortical tumor, somatic, (3)- PRKAR1A

Adrenocorticotropic hormone deficiency, 201400 (3)- TBX19

Adrenoleukodystrophy, 300100 (3)- ABCD1

Adrenomyeloneuropathy, adult, 300100 (3)- ABCD1

Adult i phenotype without cataract, 110800 (3)- GCNT2

Agammaglobulinemia and isolated hormone deficiency, 307200 (3)- BTK

Agammaglobulinemia, X-linked 1, 300755 (3)- BTK

Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3)- TREX1

Alagille syndrome 1, 118450 (3)- JAG1

Aland Island eye disease, 300600 (3)- CACNA1F

Alazami syndrome, 615071 (3)- LARP7

Albinism, brown oculocutaneous, 203200 (3)- OCA2

Albinism, oculocutaneous, type IA, 203100 (3)- TYR

Albinism, oculocutaneous, type IB, 606952 (3)- TYR

Albinism, oculocutaneous, type II, 203200 (3)- OCA2

Albinism, oculocutaneous, type II, modifier of, 203200 (3)- MC1R

Aldosteronism, glucocorticoid-remediable, 103900 (3)- CYP11B1

Alopecia universalis, 203655 (3)- HR

Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889 (3)- RAG1

Alport syndrome, 301050 (3)- COL4A5

Alstrom syndrome, 203800 (3)- ALMS1

Alternating hemiplegia of childhood, 104290 (3)- ATP1A2

Alzheimer disease 1, familial, 104300 (3)- APP

Alzheimer disease, susceptibility to, 104300 (3)- HFE

Alzheimer disease, type 3, 607822 (3)- PSEN1

Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822 (3)- PSEN1

Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 (3)- PSEN1

Alzheimer disease-2, 104310 (3)- APOE

Alzheimer disease-4, 606889 (3)- PSEN2

Amelogenesis imperfecta, type IA, 104530 (3)- LAMB3

Amyloidosis, 3 or more types, 105200 (3)- APOA1

Amyloidosis, hereditary, transthyretin-related, 105210 (3)- TTR

Amyotrophic lateral sclerosis 1, 105400 (3)- SOD1

Amyotrophic lateral sclerosis 10, with or without FTD, 612069 (3)- TARDBP

Amyotrophic lateral sclerosis 12, 613435 (3)- OPTN

Amyotrophic lateral sclerosis 19, 615515 (3)- ERBB4

Amyotrophic lateral sclerosis 4, juvenile, 602433 (3)- SETX

Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, 608030 (3)- FUS

Amyotrophic lateral sclerosis, susceptibility to, 13, 183090 (3)- ATXN2

Analbuminemia, 616000 (3)- ALB

Andersen syndrome, 170390 (3)- KCNJ2

Androgen insensitivity, 300068 (3)- AR

Androgen insensitivity, partial, with or without breast cancer, 312300 (3)- AR

Angelman syndrome, 105830 (3)- UBE3A

Angioedema, hereditary, type III, 610618 (3)- F12

Angiofibroma, somatic (3)- MEN1

Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 (3)- COL4A1

Aniridia, 106210 (3)- PAX6

Anterior segment anomalies with or without cataract, 602588 (3)- EYA1

Anterior segment dysgenesis 1, multiple subtypes, 107250 (3)- PITX3

Anterior segment dysgenesis 2, multiple subtypes, 610256 (3)- FOXE3

Anterior segment dysgenesis 3, multiple subtypes, 601631 (3)- FOXC1

Anterior segment dysgenesis 4, 137600 (3)- PITX2

Anterior segment dysgenesis 5, multiple subtypes, 604229 (3)- PAX6

Anterior segment dysgenesis 6, multiple subtypes, 617315 (3)- CYP1B1

Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3)- POR

Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3)- FGFR2

Aortic aneurysm, familial thoracic 11, susceptibility to, 617349 (3)- FOXE3

Aortic aneurysm, familial thoracic 4, 132900 (3)- MYH11

Aortic aneurysm, familial thoracic 6, 611788 (3)- ACTA2

Aortic aneurysm, familial thoracic 7, 613780 (3)- MYLK

Aortic valve disease 1, 109730 (3)- NOTCH1

Apert syndrome, 101200 (3)- FGFR2

Aplastic anemia, 609135 (3)- PRF1

Aplastic anemia, 609135 (3)- NBN

Aplastic anemia, susceptibility to, 609135 (3)- SBDS

ApoA-I and apoC-III deficiency, combined (3)- APOA1

Apparent mineralocorticoid excess, 218030 (3)- HSD11B2

Argininosuccinic aciduria, 207900 (3)- ASL

Aromatase deficiency, 613546 (3)- CYP19A1

Aromatase excess syndrome, 139300 (3)- CYP19A1

Arrhythmogenic right ventricular dysplasia 10, 610193 (3)- DSG2

Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476 (3)- DSC2

Arrhythmogenic right ventricular dysplasia 11, 610476 (3)- DSC2

Arrhythmogenic right ventricular dysplasia 12, 611528 (3)- JUP

Arrhythmogenic right ventricular dysplasia 2, 600996 (3)- RYR2

Arrhythmogenic right ventricular dysplasia 5, 604400 (3)- TMEM43

Arrhythmogenic right ventricular dysplasia 8, 607450 (3)- DSP

Arrhythmogenic right ventricular dysplasia 9, 609040 (3)- PKP2

Arterial calcification, generalized, of infancy, 2, 614473 (3)- ABCC6

Arts syndrome, 301835 (3)- PRPS1

Ataxia with isolated vitamin E deficiency, 277460 (3)- TTPA

Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (3)- APTX

Ataxia, posterior column, with retinitis pigmentosa, 609033 (3)- FLVCR1

Ataxia-telangiectasia, 208900 (3)- ATM

Athabaskan brainstem dysgenesis syndrome, 601536 (3)- HOXA1

Atherosclerosis, susceptibility to (3)- ESR1

Atrial fibrillation, familial, 10, 614022 (3)- SCN5A

Atrial fibrillation, familial, 12, 614050 (3)- ABCC9

Atrial fibrillation, familial, 13, 615377 (3)- SCN1B

Atrial fibrillation, familial, 16, 613120 (3)- SCN3B

Atrial fibrillation, familial, 17, 611819 (3)- SCN4B

Atrial fibrillation, familial, 3, 607554 (3)- KCNQ1

Atrial fibrillation, familial, 4, 611493 (3)- KCNE2

Atrial fibrillation, familial, 9, 613980 (3)- KCNJ2

Atrial septal defect 2, 607941 (3)- GATA4

Atrial septal defect 3, 614089 (3)- MYH6

Atrial septal defect 5, 612794 (3)- ACTC1

Atrial septal defect 7, with or without AV conduction defects, 108900 (3)- NKX2-5

Atrial septal defect 9, 614475 (3)- GATA6

Atrichia with papular lesions, 209500 (3)- HR

Atrioventricular septal defect 4, 614430 (3)- GATA4

Atrioventricular septal defect 5, 614474 (3)- GATA6

Auditory neuropathy, autosomal recessive, 1, 601071 (3)- OTOF

Autism susceptibility, X-linked 3, 300496 (3)- MECP2

Autoimmune lymphoproliferative syndrome, 601859 (3)- FAS

Autoimmune lymphoproliferative syndrome, type IA, 601859 (3)- FAS

Autoimmune lymphoproliferative syndrome, type V, 616100 (3)- CTLA4

Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (3)- AIRE

Autoimmune thyroid disease, susceptibility to, 3, 608175 (3)- TG

Avascular necrosis of the femoral head, 608805 (3)- COL2A1

Axenfeld-Rieger syndrome, type 1, 180500 (3)- PITX2

Axenfeld-Rieger syndrome, type 3, 602482 (3)- FOXC1

Ayme-Gripp syndrome, 601088 (3)- MAF

B

Baller-Gerold syndrome, 218600 (3)- RECQL4

Bamforth-Lazarus syndrome, 241850 (3)- FOXE1

Bannayan-Riley-Ruvalcaba syndrome, 153480 (3)- PTEN

Baraitser-Winter syndrome 2, 614583 (3)- ACTG1

Bardet-Biedl syndrome 1, 209900 (3)- BBS1

Bardet-Biedl syndrome 1, modifier of, 209900 (3)- ARL6

Bardet-Biedl syndrome 10, 615987 (3)- BBS10

Bardet-Biedl syndrome 12, 615989 (3)- BBS12

Bardet-Biedl syndrome 13, 615990 (3)- MKS1

Bardet-Biedl syndrome 16, 615993 (3)- SDCCAG8

Bardet-Biedl syndrome 17, 615994 (3)- LZTFL1

Bardet-Biedl syndrome 2, 615981 (3)- BBS2

Bardet-Biedl syndrome 21, 617406 (3)- C8orf37

Bardet-Biedl syndrome 3, 600151 (3)- ARL6

Bardet-Biedl syndrome 4, 615982 (3)- BBS4

Bardet-Biedl syndrome 5, 615983 (3)- BBS5

Bardet-Biedl syndrome 6, 605231 (3)- MKKS

Bardet-Biedl syndrome 7, 615984 (3)- BBS7

Bardet-Biedl syndrome 8, 615985 (3)- TTC8

Barrett esophagus/esophageal adenocarcinoma, 614266 (3)- ASCC1

Barrett esophagus/esophageal adenocarcinoma, 614266 (3)- MSR1

Barrett esophagus/esophageal adenocarcinoma, 614266 (3)- CTHRC1

Barth syndrome, 302060 (3)- TAZ

Bart-Pumphrey syndrome, 149200 (3)- GJB2

Bartter syndrome, type 1, 601678 (3)- SLC12A1

Bartter syndrome, type 4b, digenic, 613090 (3)- CLCNKA

Basal cell carcinoma 7, 614740 (3)- TP53

Basal cell carcinoma, somatic, 605462 (3)- PTCH2

Basal cell carcinoma, somatic, 605462 (3)- PTCH1

Basal cell nevus syndrome, 109400 (3)- SUFU

Basal cell nevus syndrome, 109400 (3)- PTCH1

Basal cell nevus syndrome, 109400 (3)- PTCH2

Basal ganglia calcification, idiopathic, 4, 615007 (3)- PDGFRB

Beare-Stevenson cutis gyrata syndrome, 123790 (3)- FGFR2

Becker muscular dystrophy, 300376 (3)- DMD

Beckwith-Wiedemann syndrome, 130650 (3)- CDKN1C

Beckwith-Wiedemann syndrome, 130650 (3)- NSD1

Behr syndrome, 210000 (3)- OPA1

Bent bone dysplasia syndrome, 614592 (3)- FGFR2

Beryllium disease, chronic, susceptibility to (3)- HLA-DPB1

Bestrophinopathy, autosomal recessive, 611809 (3)- BEST1

Bietti crystalline corneoretinal dystrophy, 210370 (3)- CYP4V2

Biotinidase deficiency, 253260 (3)- BTD

Birt-Hogg-Dube syndrome, 135150 (3)- FLCN

Bladder cancer, somatic, 109800 (3)- FGFR3

Bladder cancer, somatic, 109800 (3)- KRAS

Bladder cancer, somatic, 109800 (3)- RB1

Bladder cancer, somatic, 109800 (3)- HRAS

Blepharophimosis, epicanthus inversus, and ptosis, type 1, 110100 (3)- FOXL2

Blepharophimosis, epicanthus inversus, and ptosis, type 2, 110100 (3)- FOXL2

Blue cone monochromacy, 303700 (3)- OPN1LW

Blue cone monochromacy, 303700 (3)- OPN1MW

Bone mineral density variation QTL, osteoporosis, 166710 (3)- COL1A1

Bosley-Salih-Alorainy syndrome, 601536 (3)- HOXA1

Bothnia retinal dystrophy, 607475 (3)- RLBP1

Brachydactyly, type A1, C, 615072 (3)- GDF5

Brachydactyly, type A2, 112600 (3)- GDF5

Brachydactyly, type B1, 113000 (3)- ROR2

Brachydactyly, type C, 113100 (3)- GDF5

Bradyopsia, 608415 (3)- RGS9BP

Bradyopsia, 608415 (3)- RGS9

Brain small vessel disease with or without ocular anomalies, 607595 (3)- COL4A1

Brain tumor-polyposis syndrome 2, 175100 (3)- APC

Branchiootic syndrome 1, 602588 (3)- EYA1

Branchiootic syndrome 3, 608389 (3)- SIX1

Branchiootorenal syndrome 1, with or without cataracts, 113650 (3)- EYA1

Branchiootorenal syndrome 2, 610896 (3)- SIX5

Breast and colorectal cancer, susceptibility to (3)- CHEK2

Breast cancer, 114480 (1)- ESR1

Breast cancer, 114480 (3)- TP53

Breast cancer, early-onset, 114480 (3)- BRIP1

Breast cancer, lobular, 114480 (3)- CDH1

Breast cancer, male, susceptibility to, 114480 (3)- BRCA2

Breast cancer, somatic, 114480 (3)- AKT1

Breast cancer, somatic, 114480 (3)- KRAS

Breast cancer, somatic, 114480 (3)- PIK3CA

Breast cancer, somatic, 114480 (3)- PPM1D

Breast cancer, susceptibility to, 114480 (3)- ATM

Breast cancer, susceptibility to, 114480 (3)- BARD1

Breast cancer, susceptibility to, 114480 (3)- CHEK2

Breast cancer, susceptibility to, 114480 (3)- PALB2

Breast-ovarian cancer, familial, 1, 604370 (3)- BRCA1

Breast-ovarian cancer, familial, 2, 612555 (3)- BRCA2

Breast-ovarian cancer, familial, susceptibility to, 3, 613399 (3)- RAD51C

Breast-ovarian cancer, familial, susceptibility to, 4, 614291 (3)- RAD51D

Brittle cornea syndrome 1, 229200 (3)- ZNF469

Brittle cornea syndrome 2, 614170 (3)- PRDM5

Bronchiectasis with or without elevated sweat chloride 1, modifier of, 211400 (3)- CFTR

Brooke-Spiegler syndrome, 605041 (3)- CYLD

Bruck syndrome 1, 259450 (3)- FKBP10

Brugada syndrome 1, 601144 (3)- SCN5A

Brugada syndrome 2, 611777 (3)- GPD1L

Brugada syndrome 3, 611875 (3)- CACNA1C

Brugada syndrome 4, 611876 (3)- CACNB2

Brugada syndrome 5, 612838 (3)- SCN1B

Brugada syndrome 6, 613119 (3)- KCNE3

Brugada syndrome 7, 613120 (3)- SCN3B

Brugada syndrome 8, 613123 (3)- HCN4

Budd-Chiari syndrome, 600880 (3)- F5

Budd-Chiari syndrome, somatic, 600800 (3)- JAK2

C

Caffey disease, 114000 (3)- COL1A1

Calcium, serum level of (3)- CASR

Campomelic dysplasia with autosomal sex reversal, 114290 (3)- SOX9

Campomelic dysplasia, 114290 (3)- SOX9

Canavan disease, 271900 (3)- ASPA

Capillary malformations, congenital, 1, somatic, mosaic, 163000 (3)- GNAQ

Carcinoid tumor of lung (3)- MEN1

Carcinoid tumors, intestinal, 114900 (3)- SDHD

Cardiac arrhythmia, ankyrin-B-related, 600919 (3)- ANK2

Cardiac conduction defect, nonspecific, 612838 (3)- SCN1B

Cardiofaciocutaneous syndrome 2, 615278 (3)- KRAS

Cardiofaciocutaneous syndrome 3, 615279 (3)- MAP2K1

Cardiofaciocutaneous syndrome, 115150 (3)- BRAF

Cardiomyopathy, dilated, 1A, 115200 (3)- LMNA

Cardiomyopathy, dilated, 1AA, with or without LVNC, 612158 (3)- ACTN2

Cardiomyopathy, dilated, 1BB, 612877 (3)- DSG2

Cardiomyopathy, dilated, 1C, with or without LVNC, 601493 (3)- LDB3

Cardiomyopathy, dilated, 1D, 601494 (3)- TNNT2

Cardiomyopathy, dilated, 1E, 601154 (3)- SCN5A

Cardiomyopathy, dilated, 1EE, 613252 (3)- MYH6

Cardiomyopathy, dilated, 1FF, 613286 (3)- TNNI3

Cardiomyopathy, dilated, 1GG, 613642 (3)- SDHA

Cardiomyopathy, dilated, 1HH, 613881 (3)- BAG3

Cardiomyopathy, dilated, 1I, 604765 (3)- DES

Cardiomyopathy, dilated, 1II, 615184 (3)- CRYAB

Cardiomyopathy, dilated, 1J, 605362 (3)- EYA4

Cardiomyopathy, dilated, 1L, 606685 (3)- SGCD

Cardiomyopathy, dilated, 1MM, 615396 (3)- MYBPC3

Cardiomyopathy, dilated, 1NN, 615916 (3)- RAF1

Cardiomyopathy, dilated, 1O, 608569 (3)- ABCC9

Cardiomyopathy, dilated, 1P, 609909 (3)- PLN

Cardiomyopathy, dilated, 1R, 613424 (3)- ACTC1

Cardiomyopathy, dilated, 1S, 613426 (3)- MYH7

Cardiomyopathy, dilated, 1U, 613694 (3)- PSEN1

Cardiomyopathy, dilated, 1V, 613697 (3)- PSEN2

Cardiomyopathy, dilated, 1W, 611407 (3)- VCL

Cardiomyopathy, dilated, 1Y, 611878 (3)- TPM1

Cardiomyopathy, dilated, 1Z, 611879 (3)- TNNC1

Cardiomyopathy, dilated, 3B, 302045 (3)- DMD

Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)- DSP

Cardiomyopathy, familial hypertrophic, 192600 (3)- CAV3

Cardiomyopathy, familial restrictive, 1, 115210 (3)- TNNI3

Cardiomyopathy, familial restrictive, 3, 612422 (3)- TNNT2

Cardiomyopathy, hypertrophic 6, 600858 (3)- PRKAG2

Cardiomyopathy, hypertrophic, 1, 192600 (3)- MYH7

Cardiomyopathy, hypertrophic, 10, 608758 (3)- MYL2

Cardiomyopathy, hypertrophic, 11, 612098 (3)- ACTC1

Cardiomyopathy, hypertrophic, 13, 613243 (3)- TNNC1

Cardiomyopathy, hypertrophic, 14, 613251 (3)- MYH6

Cardiomyopathy, hypertrophic, 15, 613255 (3)- VCL

Cardiomyopathy, hypertrophic, 16, 613838 (3)- MYOZ2

Cardiomyopathy, hypertrophic, 18, 613874 (3)- PLN

Cardiomyopathy, hypertrophic, 2, 115195 (3)- TNNT2

Cardiomyopathy, hypertrophic, 23, with or without LVNC, 612158 (3)- ACTN2

Cardiomyopathy, hypertrophic, 24, 601493 (3)- LDB3

Cardiomyopathy, hypertrophic, 3, 115196 (3)- TPM1

Cardiomyopathy, hypertrophic, 4, 115197 (3)- MYBPC3

Cardiomyopathy, hypertrophic, 7, 613690 (3)- TNNI3

Cardiomyopathy, hypertrophic, 8, 608751 (3)- MYL3

Carney complex variant, 608837 (3)- MYH8

Carney complex, type 1, 160980 (3)- PRKAR1A

Carotid intimal medial thickness 1, 609338 (3)- PPARG

Carpal tunnel syndrome, familial, 115430 (3)- TTR

Cataract 1, multiple types, 116200 (3)- GJA8

Cataract 10, multiple types, 600881 (3)- CRYBA1

Cataract 11, multiple types, 610623 (3)- PITX3

Cataract 11, syndromic, 610623 (3)- PITX3

Cataract 12, multiple types, 611597 (3)- BFSP2

Cataract 13 with adult i phenotype, 116700 (3)- GCNT2

Cataract 14, multiple types, 601885 (3)- GJA3

Cataract 15, multiple types, 615274 (3)- MIP

Cataract 16, multiple types, 613763 (3)- CRYAB

Cataract 17, multiple types, 611544 (3)- CRYBB1

Cataract 18, autosomal recessive, 610019 (3)- FYCO1

Cataract 19, multiple types, 615277 (3)- LIM2

Cataract 2, multiple types, 604307 (3)- CRYGC

Cataract 20, multiple types, 116100 (3)- CRYGS

Cataract 21, multiple types, 610202 (3)- MAF

Cataract 22, 609741 (3)- CRYBB3

Cataract 23, 610425 (3)- CRYBA4

Cataract 3, multiple types, 601547 (3)- CRYBB2

Cataract 30, pulverulent, 116300 (3)- VIM

Cataract 31, multiple types, 605387 (3)- CHMP4B

Cataract 33, multiple types, 611391 (3)- BFSP1

Cataract 34, multiple types, 612968 (3)- FOXE3

Cataract 36, 613887 (3)- TDRD7

Cataract 38, autosomal recessive, 614691 (3)- AGK

Cataract 39, multiple types, autosomal dominant, 615188 (3)- CRYGB

Cataract 4, multiple types, 115700 (3)- CRYGD

Cataract 40, X-linked, 302200 (3)- NHS

Cataract 47, juvenile, with microcornea, 612018 (3)- SLC16A12

Cataract 5, multiple types, 116800 (3)- HSF4

Cataract 6, multiple types, 116600 (3)- EPHA2

Cataract 9, multiple types, 604219 (3)- CRYAA

Cataract with late-onset corneal dystrophy, 106210 (3)- PAX6

CATSHL syndrome, 610474 (3)- FGFR3

Celiac disease, susceptibility to, 212750 (3)- HLA-DQA1

Celiac disease, susceptibility to, 212750 (3)- HLA-DQB1

Celiac disease, susceptibility to, 3, 609755 (3)- CTLA4

Cenani-Lenz syndactyly syndrome, 212780 (3)- LRP4

Central core disease, 117000 (3)- RYR1

Central hypoventilation syndrome, congenital, 209880 (3)- RET

Cerebellar atrophy, visual impairment, and psychomotor retardation, 616875 (3)- EMC1

Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3)- VLDLR

Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, 605714 (3)- APP

Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 (3)- NOTCH3

Cerebrooculofacioskeletal syndrome 3, 616570 (3)- ERCC5

Cerebrotendinous xanthomatosis, 213700 (3)- CYP27A1

Ceroid lipofuscinosis, neuronal, 1, 256730 (3)- PPT1

Ceroid lipofuscinosis, neuronal, 3, 204200 (3)- CLN3

Cervical cancer, somatic, 603956 (3)- FGFR3

Charcot-Marie-Tooth disease, axonal type 2M, 606482 (3)- DNM2

Charcot-Marie-Tooth disease, axonal, type 2A2A, 609260 (3)- MFN2

Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3)- MFN2

Charcot-Marie-Tooth disease, axonal, type 2W, 616625 (3)- HARS

Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3)- DNM2

Charcot-Marie-Tooth disease, dominant intermediate D, 607791 (3)- MPZ

Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3)- INF2

Charcot-Marie-Tooth disease, type 1A, 118220 (3)- PMP22

Charcot-Marie-Tooth disease, type 1B, 118200 (3)- MPZ

Charcot-Marie-Tooth disease, type 1E, 118300 (3)- PMP22

Charcot-Marie-Tooth disease, type 2B1, 605588 (3)- LMNA

Charcot-Marie-Tooth disease, type 2I, 607677 (3)- MPZ

Charcot-Marie-Tooth disease, type 2J, 607736 (3)- MPZ

Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070 (3)- PRPS1

Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 (3)- GJB1

CHARGE syndrome, 214800 (3)- CHD7

Cherubism, 118400 (3)- SH3BP2

Chilblain lupus, 610448 (3)- TREX1

Cholestasis, progressive familial intrahepatic 4, 615878 (3)- TJP2

Cholesteryl ester storage disease, 278000 (3)- LIPA

Chondrodysplasia, Grebe type, 200700 (3)- GDF5

Chondrosarcoma, 215300 (3)- EXT1

Chorea, hereditary benign, 118700 (3)- NKX2-1

Choreoacanthocytosis, 200150 (3)- VPS13A

Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 (3)- NKX2-1

Choriodal dystrophy, central areolar 2, 613105 (3)- PRPH2

Choroid plexus papilloma, 260500 (3)- TP53

Choroideremia, 303100 (3)- CHM

Chronic granulomatous disease, X-linked, 306400 (3)- CYBB

Chudley-McCullough syndrome, 604213 (3)- GPSM2

Chylomicron retention disease, 246700 (3)- SAR1B

Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3)- DNAI1

Ciliary dyskinesia, primary, 11, 612649 (3)- RSPH4A

Ciliary dyskinesia, primary, 12, 612650 (3)- RSPH9

Ciliary dyskinesia, primary, 14, 613807 (3)- CCDC39

Ciliary dyskinesia, primary, 15, 613808 (3)- CCDC40

Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)- DNAH5

Ciliary dyskinesia, primary, 6, 610852 (3)- NME8

Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)- DNAH11

Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3)- DNAI2

CINCA syndrome, 607115 (3)- NLRP3

Citrullinemia, adult-onset type II, 603471 (3)- SLC25A13

Citrullinemia, type II, neonatal-onset, 605814 (3)- SLC25A13

CLOVE syndrome, somatic, 612918 (3)- PIK3CA

COACH syndrome, 216360 (3)- CC2D2A

COACH syndrome, 216360 (3)- RPGRIP1L

Codeine sensitivity, 608902 (3)- CYP2D6

Coffin-Lowry syndrome, 303600 (3)- RPS6KA3

Coffin-Siris syndrome 3, 614608 (3)- SMARCB1

Coffin-Siris syndrome 5, 616938 (3)- SMARCE1

Cold-induced sweating syndrome 3, 617055 (3)- KLHL7

Colon cancer, advanced, somatic, 114500 (3)- SRC

Colorblindness, deutan, 303800 (3)- OPN1MW

Colorblindness, protan, 303900 (3)- OPN1LW

Colorblindness, tritan, 190900 (3)- OPN1SW

Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600 (3)- MUTYH

Colorectal cancer with chromosomal instability, somatic (3)- BUB1

Colorectal cancer, 114500 (3)- TP53

Colorectal cancer, hereditary nonpolyposis, type 1, 120435 (3)- MSH2

Colorectal cancer, hereditary nonpolyposis, type 2, 609310 (3)- MLH1

Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)- PMS2

Colorectal cancer, hereditary nonpolyposis, type 5, 614350 (3)- MSH6

Colorectal cancer, hereditary nonpolyposis, type 6, 614331 (3)- TGFBR2

Colorectal cancer, hereditary nonpolyposis, type 7, 614385 (3)- MLH3

Colorectal cancer, hereditary nonpolyposis, type 8, 613244 (3)- EPCAM

Colorectal cancer, somatic (3)- BRAF

Colorectal cancer, somatic, 114500 (3)- AKT1

Colorectal cancer, somatic, 114500 (3)- APC

Colorectal cancer, somatic, 114500 (3)- AXIN2

Colorectal cancer, somatic, 114500 (3)- BUB1B

Colorectal cancer, somatic, 114500 (3)- CTNNB1

Colorectal cancer, somatic, 114500 (3)- FGFR3

Colorectal cancer, somatic, 114500 (3)- FLCN

Colorectal cancer, somatic, 114500 (3)- MLH3

Colorectal cancer, somatic, 114500 (3)- NRAS

Colorectal cancer, somatic, 114500 (3)- PIK3CA

Colorectal cancer, susceptibility to, 10, 612591 (3)- POLD1

Combined cellular and humoral immune defects with granulomas, 233650 (3)- RAG1

Combined cellular and humoral immune defects with granulomas, 233650 (3)- RAG2

Combined immunodeficiency, X-linked, moderate, 312863 (3)- IL2RG

Combined oxidative phosphorylation deficiency 17, 615440 (3)- ELAC2

COMMAD syndrome, 617306 (3)- MITF

Cone dystrophy 4, 613093 (3)- PDE6C

Cone dystrophy-3, 602093 (3)- GUCA1A

Cone-rod dystrophy 10, 610283 (3)- SEMA4A

Cone-rod dystrophy 11, 610381 (3)- RAX2

Cone-rod dystrophy 12, 612657 (3)- PROM1

Cone-rod dystrophy 13, 608194 (3)- RPGRIP1

Cone-rod dystrophy 14, 602093 (3)- GUCA1A

Cone-rod dystrophy 15, 613660 (3)- CDHR1

Cone-rod dystrophy 16, 614500 (3)- C8orf37

Cone-rod dystrophy 3, 604116 (3)- ABCA4

Cone-rod dystrophy 5, 600977 (3)- PITPNM3

Cone-rod dystrophy 6, 601777 (3)- GUCY2D

Cone-rod dystrophy 7, 603649 (3)- RIMS1

Cone-rod dystrophy 9, 612775 (3)- ADAM9

Cone-rod dystrophy, 604393 (3)- AIPL1

Cone-rod dystrophy, X-linked, 1, 304020 (3)- RPGR

Cone-rod dystrophy, X-linked, 3, 300476 (3)- CACNA1F

Cone-rod retinal dystrophy-2, 120970 (3)- CRX

Cone-rod synaptic disorder, congenital nonprogressive, 610427 (3)- CABP4

Congenital bilateral absence of vas deferens, 277180 (3)- CFTR

Congenital cataracts, facial dysmorphism, and neuropathy, 604168 (3)- CTDP1

Congenital disorder of glycosylation, type Ia, 212065 (3)- PMM2

Congenital myopathy with excess of muscle spindles, 218040 (3)- HRAS

Conotruncal heart malformations, variable, 217095 (3)- NKX2-5

Cornea plana 2, autosomal recessive, 217300 (3)- KERA

Corneal clouding, autosomal recessive (3)- APOA1

Corneal dystrophy, Avellino type, 607541 (3)- TGFBI

Corneal dystrophy, congenital stromal, 610048 (3)- DCN

Corneal dystrophy, epithelial basement membrane, 121820 (3)- TGFBI

Corneal dystrophy, Fuchs endothelial, 1, 136800 (3)- COL8A2

Corneal dystrophy, Fuchs endothelial, 4, 613268 (3)- SLC4A11

Corneal dystrophy, Fuchs endothelial, 6, 613270 (3)- ZEB1

Corneal dystrophy, gelatinous drop-like, 204870 (3)- TACSTD2

Corneal dystrophy, Groenouw type I, 121900 (3)- TGFBI

Corneal dystrophy, lattice type I, 122200 (3)- TGFBI

Corneal dystrophy, lattice type IIIA, 608471 (3)- TGFBI

Corneal dystrophy, posterior polymorphous 2, 609140 (3)- COL8A2

Corneal dystrophy, posterior polymorphous, 3, 609141 (3)- ZEB1

Corneal dystrophy, Reis-Bucklers type, 608470 (3)- TGFBI

Corneal dystrophy, Schnyder type, 121800 (3)- UBIAD1

Corneal dystrophy, Thiel-Behnke type, 602082 (3)- TGFBI

Corneal endothelial dystrophy and perceptive deafness, 217400 (3)- SLC4A11

Corneal endothelial dystrophy, autosomal recessive, 217700 (3)- SLC4A11

Corneal fleck dystrophy, 121850 (3)- PIKFYVE

Cornelia de Lange syndrome 1, 122470 (3)- NIPBL

Cornelia de Lange syndrome 5, 300882 (3)- HDAC8

Coronary artery disease in familial hypercholesterolemia, protection against, 143890 (3)- ABCA1

Coronary artery disease, severe, susceptibility to, 617347 (3)- APOE

Coronary artery disease, susceptibility to (1)- LPA

Coronary artery disease, susceptibility to (3)- IRS1

Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, 300472 (3)- IGBP1

Corpus callosum, partial agenesis of, 304100 (3)- L1CAM

Cortical dysplasia, complex, with other brain malformations 1, 614039 (3)- TUBB3

Cortisone reductase deficiency 1, 604931 (3)- H6PD

Cortisone reductase deficiency 2, 614662 (3)- HSD11B1

Costello syndrome, 218040 (3)- HRAS

Cowden syndrome 1, 158350 (3)- PTEN

Cowden syndrome 2, 612359 (3)- SDHB

Cowden syndrome 3, 615106 (3)- SDHD

Cowden syndrome 4, 615107 (3)- KLLN

Cowden syndrome 5, 615108 (3)- PIK3CA

Cowden syndrome 6, 615109 (3)- AKT1

Craniofacial-deafness-hand syndrome, 122880 (3)- PAX3

Craniofacial-skeletal-dermatologic dysplasia, 101600 (3)- FGFR2

Craniosynostosis 1, 123100 (3)- TWIST1

Craniosynostosis, nonspecific (3)- FGFR2

CRASH syndrome, 303350 (3)- L1CAM

Creatine phosphokinase, elevated serum, 123320 (3)- CAV3

Creutzfeldt-Jakob disease, variant, resistance to, 123400 (3)- HLA-DQB1

Crigler-Najjar syndrome, type I, 218800 (3)- UGT1A1

Crigler-Najjar syndrome, type II, 606785 (3)- UGT1A1

Crouzon syndrome with acanthosis nigricans, 612247 (3)- FGFR3

Crouzon syndrome, 123500 (3)- FGFR2

Cryptorchidism, 219050 (3)- INSL3

Culler-Jones syndrome, 615849 (3)- GLI2

Currarino syndrome, 176450 (3)- MNX1

Cutis laxa, autosomal dominant 3, 616603 (3)- ALDH18A1

Cutis laxa, autosomal dominant, 123700 (3)- ELN

Cutis laxa, autosomal recessive, type IIIA, 219150 (3)- ALDH18A1

Cylindromatosis, familial, 132700 (3)- CYLD

Cystic fibrosis, 219700 (3)- CFTR

Cystinosis, atypical nephropathic, 219800 (3)- CTNS

Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 (3)- CTNS

Cystinosis, nephropathic, 219800 (3)- CTNS

Cystinosis, ocular nonnephropathic, 219750 (3)- CTNS

Czech dysplasia, 609162 (3)- COL2A1

D

D-2-hydroxyglutaric aciduria 2, 613657 (3)- IDH2

Danon disease, 300257 (3)- LAMP2

Darier disease, 124200 (3)- ATP2A2

Deafness, autosomal dominant 1, 124900 (3)- DIAPH1

Deafness, autosomal dominant 10, 601316 (3)- EYA4

Deafness, autosomal dominant 11, 601317 (3)- MYO7A

Deafness, autosomal dominant 13, 601868 (3)- COL11A2

Deafness, autosomal dominant 15, 602459 (3)- POU4F3

Deafness, autosomal dominant 17, 603622 (3)- MYH9

Deafness, autosomal dominant 20/26, 604717 (3)- ACTG1

Deafness, autosomal dominant 22, 606346 (3)- MYO6

Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, 606346 (3)- MYO6

Deafness, autosomal dominant 23, 605192 (3)- SIX1

Deafness, autosomal dominant 25, 605583 (3)- SLC17A8

Deafness, autosomal dominant 28, 608641 (3)- GRHL2

Deafness, autosomal dominant 2A, 600101 (3)- KCNQ4

Deafness, autosomal dominant 2B, 612644 (3)- GJB3

Deafness, autosomal dominant 36, 606705 (3)- TMC1

Deafness, autosomal dominant 3A, 601544 (3)- GJB2

Deafness, autosomal dominant 3B, 612643 (3)- GJB6

Deafness, autosomal dominant 40, 616357 (3)- CRYM

Deafness, autosomal dominant 4A, 600652 (3)- MYH14

Deafness, autosomal dominant 4B, 614614 (3)- CEACAM16

Deafness, autosomal dominant 5, 600994 (3)- DFNA5

Deafness, autosomal dominant 6/14/38, 600965 (3)- WFS1

Deafness, autosomal dominant 8/12, 601543 (3)- TECTA

Deafness, autosomal dominant 9, 601369 (3)- COCH

Deafness, autosomal dominant, with peripheral neuropathy (3)- GJB3

Deafness, autosomal recessive (3)- GJB3

Deafness, autosomal recessive 12, 601386 (3)- CDH23

Deafness, autosomal recessive 15, 601869 (3)- GIPC3

Deafness, autosomal recessive 16, 603720 (3)- STRC

Deafness, autosomal recessive 18A, 602092 (3)- USH1C

Deafness, autosomal recessive 1A, 220290 (3)- GJB2

Deafness, autosomal recessive 1B, 612645 (3)- GJB6

Deafness, autosomal recessive 2, 600060 (3)- MYO7A

Deafness, autosomal recessive 21, 603629 (3)- TECTA

Deafness, autosomal recessive 22, 607039 (3)- OTOA

Deafness, autosomal recessive 23, 609533 (3)- PCDH15

Deafness, autosomal recessive 24, 611022 (3)- RDX

Deafness, autosomal recessive 25, 613285 (3)- GRXCR1

Deafness, autosomal recessive 28, 609823 (3)- TRIOBP

Deafness, autosomal recessive 29, 614035 (3)- CLDN14

Deafness, autosomal recessive 3, 600316 (3)- MYO15A

Deafness, autosomal recessive 30, 607101 (3)- MYO3A

Deafness, autosomal recessive 31, 607084 (3)- WHRN

Deafness, autosomal recessive 35, 608565 (3)- ESRRB

Deafness, autosomal recessive 36, 609006 (3)- ESPN

Deafness, autosomal recessive 37, 607821 (3)- MYO6

Deafness, autosomal recessive 39, 608265 (3)- HGF

Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791 (3)- SLC26A4

Deafness, autosomal recessive 42, 609646 (3)- ILDR1

Deafness, autosomal recessive 48, 609439 (3)- CIB2

Deafness, autosomal recessive 49, 610153 (3)- MARVELD2

Deafness, autosomal recessive 53, 609706 (3)- COL11A2

Deafness, autosomal recessive 59, 610220 (3)- PJVK

Deafness, autosomal recessive 6, 600971 (3)- TMIE

Deafness, autosomal recessive 63, 611451 (3)- LRTOMT

Deafness, autosomal recessive 67, 610265 (3)- LHFPL5

Deafness, autosomal recessive 7, 600974 (3)- TMC1

Deafness, autosomal recessive 74, 613718 (3)- MSRB3

Deafness, autosomal recessive 77, 613079 (3)- LOXHD1

Deafness, autosomal recessive 79, 613307 (3)- TPRN

Deafness, autosomal recessive 8/10, 601072 (3)- TMPRSS3

Deafness, autosomal recessive 84A, 613391 (3)- PTPRQ

Deafness, autosomal recessive 9, 601071 (3)- OTOF

Deafness, digenic GJB2/GJB6, 220290 (3)- GJB6

Deafness, digenic, GJB2/GJB3, 220290 (3)- GJB3

Deafness, neurosensory, without vestibular involvement, autosomal dominant (3)- ESPN

Deafness, X-linked 1, 304500 (3)- PRPS1

Deafness, X-linked 2, 304400 (3)- POU3F4

Deafness, X-linked 4, 300066 (3)- SMPX

Debrisoquine sensitivity, 608902 (3)- CYP2D6

Deep venous thrombosis, protection against, 300807 (3)- F9

Dejerine-Sottas disease, 145900 (3)- MPZ

Dejerine-Sottas disease, 145900 (3)- PMP22

Delta-beta thalassemia, 141749 (3)- HBB

Dementia, frontotemporal, 600274 (3)- PSEN1

Dementia, frontotemporal, with or without parkinsonism, 600274 (3)- MAPT

Dementia, Lewy body, 127750 (3)- SNCA

Dent disease 2, 300555 (3)- OCRL

Dentatorubro-pallidoluysian atrophy, 125370 (3)- ATN1

Denys-Drash syndrome, 194080 (3)- WT1

Dermatopathia pigmentosa reticularis, 125595 (3)- KRT14

Desmoid disease, hereditary, 135290 (3)- APC

Diabetes insipidus, nephrogenic, 125800 (3)- AQP2

Diabetes insipidus, nephrogenic, 304800 (3)- AVPR2

Diabetes insipidus, neurohypophyseal, 125700 (3)- AVP

Diabetes mellitus, insulin-dependent, 12, 601388 (3)- CTLA4

Diabetes mellitus, insulin-dependent, 2, 125852 (3)- INS

Diabetes mellitus, insulin-dependent, 20, 612520 (3)- HNF1A

Diabetes mellitus, insulin-dependent, 222100 (3)- HNF1A

Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3)- INSR

Diabetes mellitus, ketosis-prone, susceptibility to, 612227 (3)- PAX4

Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3)- GLIS3

Diabetes mellitus, noninsulin-dependent, 125853 (3)- HNF4A

Diabetes mellitus, noninsulin-dependent, 125853 (3)- IRS1

Diabetes mellitus, noninsulin-dependent, 125853 (3)- IRS2

Diabetes mellitus, noninsulin-dependent, 125853 (3)- LIPC

Diabetes mellitus, noninsulin-dependent, 125853 (3)- NEUROD1

Diabetes mellitus, noninsulin-dependent, 125853 (3)- ABCC8

Diabetes mellitus, noninsulin-dependent, 125853 (3)- HNF1B

Diabetes mellitus, noninsulin-dependent, 2, 125853 (3)- HNF1A

Diabetes mellitus, noninsulin-dependent, association with, 125853 (3)- WFS1

Diabetes mellitus, noninsulin-dependent, late onset, 125853 (3)- GCK

Diabetes mellitus, permanent neonatal, 606176 (3)- ABCC8

Diabetes mellitus, permanent neonatal, 606176 (3)- GCK

Diabetes mellitus, permanent neonatal, 606176 (3)- INS

Diabetes mellitus, transient neonatal 2, 610374 (3)- ABCC8

Diabetes mellitus, transient neonatal, 1, 601410 (3)- ZFP57

Diabetes mellitus, transient neonatal, 3, 610582 (3)- KCNJ11

Diabetes mellitus, transient neonatal, 601410 (1)- PLAGL1

Diabetes mellitus, type 2, 125853 (3)- PAX4

Diabetes mellitus, type 2, susceptibility to, 125853 (3)- KCNJ11

Diabetes mellitus, type I, susceptibility to, 222100 (3)- FOXP3

Diabetes mellitus, type II, 125853 (3)- AKT2

Diabetes mellitus, type II, susceptibility to, 125853 (3)- PDX1

Diabetes, mellitus, insulin-dependent, susceptibility to, 10, 601942 (3)- IL2RA

Diabetes, permanent neonatal, with or without neurologic features, 606176 (3)- KCNJ11

Diabetes, type 2, 125853 (3)- PPARG

Diamond-Blackfan anemia 1, 105650 (3)- RPS19

Diamond-Blackfan anemia 10, 613309 (3)- RPS26

Diamond-blackfan anemia 3, 610629 (3)- RPS24

Diamond-Blackfan anemia 5, 612528 (3)- RPL35A

Diamond-Blackfan anemia 7, 612562 (3)- RPL11

Diamond-Blackfan anemia 8, 612563 (3)- RPS7

Diamond-Blackfan anemia 9, 613308 (3)- RPS10

Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250 (3)- MTAP

Diarrhea 5, with tufting enteropathy, congenital, 613217 (3)- EPCAM

Diarrhea 6, 614616 (3)- GUCY2C

Dihydrolipoamide dehydrogenase deficiency, 246900 (3)- DLD

Dihydropyrimidine dehydrogenase deficiency, 274270 (3)- DPYD

Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3)- DSP

Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 (3)- POR

Donnai-Barrow syndrome, 222448 (3)- LRP2

Dowling-Degos disease 1, 179850 (3)- KRT5

Doyne honeycomb degeneration of retina, 126600 (3)- EFEMP1

Dravet syndrome, modifier of, 607208 (3)- SCN9A

Drug-induced liver injury due to flucloxacillin (3)- HLA-B

Du Pan syndrome, 228900 (3)- GDF5

Duane retraction syndrome 2, 604356 (3)- CHN1

Duane-radial ray syndrome, 607323 (3)- SALL4

Duchenne muscular dystrophy, 310200 (3)- DMD

Dyskeratosis congenita, autosomal dominant 2, 613989 (3)- TERT

Dyskeratosis congenita, autosomal recessive 4, 613989 (3)- TERT

Dyskeratosis congenita, X-linked, 305000 (3)- DKC1

Dysprothrombinemia, 613679 (3)- F2

Dystonia 6, torsion, 602629 (3)- THAP1

Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3)- GCH1

Dystonia-11, myoclonic, 159900 (3)- SGCE

Dystonia-Parkinsonism, X-linked, 314250 (3)- TAF1

E

EBD inversa, 226600 (3)- COL7A1

EBD, Bart type, 132000 (3)- COL7A1

EBD, localisata variant (3)- COL7A1

Ectodermal dysplasia 2, Clouston type, 129500 (3)- GJB6

Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, 612132 (3)- NFKBIA

Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3)- CDH3

Ectodermal dysplasia/short stature syndrome, 616029 (3)- GRHL2

Ectopia lentis et pupillae, 225200 (3)- ADAMTSL4

Ectopia lentis, familial, 129600 (3)- FBN1

Ectopia lentis, isolated, autosomal recessive, 225100 (3)- ADAMTSL4

EDICT syndrome, 614303 (3)- MIR184

Ehlers-Danlos syndrome due to tenascin X deficiency, 606408 (3)- TNXB

Ehlers-Danlos syndrome, cardiac valvular form, 225320 (3)- COL1A2

Ehlers-Danlos syndrome, classic type, 130000 (3)- COL5A1

Ehlers-Danlos syndrome, classic type, 130000 (3)- COL5A2

Ehlers-Danlos syndrome, classic, 130000 (3)- COL1A1

Ehlers-Danlos syndrome, type IV, 130050 (3)- COL3A1

Ehlers-Danlos syndrome, type VI, 225400 (3)- PLOD1

Ehlers-Danlos syndrome, type VIIA, 130060 (3)- COL1A1

Ehlers-Danlos syndrome, type VIIB, 130060 (3)- COL1A2

Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3)- EMD

Emery-Dreifuss muscular dystrophy 2, AD, 181350 (3)- LMNA

Emery-Dreifuss muscular dystrophy 3, AR, 616516 (3)- LMNA

Emery-Dreifuss muscular dystrophy 7, AD, 614302 (3)- TMEM43

Emphysema due to AAT deficiency, 613490 (3)- SERPINA1

Emphysema-cirrhosis, due to AAT deficiency, 613490 (3)- SERPINA1

Encephalocraniocutaneous lipomatosis, 613001 (3)- FGFR1

Encephalopathy, neonatal severe, 300673 (3)- MECP2

Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207 (3)- TBCE

Endocrine-cerebroosteodysplasia, 612651 (3)- ICK

Endometrial cancer, familial, 608089 (3)- MSH6

Endometrial cancer, susceptibility to, 608089 (3)- MLH3

Endometrial carcinoma, somatic, 608089 (3)- CDH1

Endometrial carcinoma, somatic, 608089 (3)- PTEN

Enhanced S-cone syndrome, 268100 (3)- NR2E3

Enolase deficiency (1)- ENO1

Epidermal nevus, somatic, 162900 (3)- NRAS

Epidermolysis bullosa dystrophica, AD, 131750 (3)- COL7A1

Epidermolysis bullosa dystrophica, AR, 226600 (3)- COL7A1

Epidermolysis bullosa of hands and feet, 131800 (3)- ITGB4

Epidermolysis bullosa pruriginosa, 604129 (3)- COL7A1

Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3)- KRT14

Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3)- KRT5

Epidermolysis bullosa simplex, Koebner type, 131900 (3)- KRT14

Epidermolysis bullosa simplex, Koebner type, 131900 (3)- KRT5

Epidermolysis bullosa simplex, recessive 1, 601001 (3)- KRT14

Epidermolysis bullosa simplex, recessive 1, 601001 (3)- KRT5

Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3)- KRT14

Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3)- KRT5

Epidermolysis bullosa simplex-MP, 131960 (3)- KRT5

Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)- LAMB3

Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)- ITGB4

Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)- LAMB3

Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3)- ITGB4

Epidermolysis bullosa, lethal acantholytic, 609638 (3)- DSP

Epidermolysis bullosa, pretibial, 131850 (3)- COL7A1

Epidermylysis bullosa simplex-MCR, 609352 (3)- KRT5

Epilepsy idiopathic generalized, susceptibility to, 8, 612899 (3)- CASR

Epilepsy, generalized, with febrile seizures plus, type 1, 604233 (3)- SCN1B

Epilepsy, generalized, with febrile seizures plus, type 2, 604403 (3)- SCN1A

Epilepsy, generalized, with febrile seizures plus, type 7, 613863 (3)- SCN9A

Epileptic encephalopathy, early infantile, 42, 617106 (3)- CACNA1A

Epileptic encephalopathy, early infantile, 52, 617350 (3)- SCN1B

Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208 (3)- SCN1A

Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3)- COL2A1

Episodic ataxia, type 2, 108500 (3)- CACNA1A

Epstein syndrome, 153650 (3)- MYH9

Erythermalgia, primary, 133020 (3)- SCN9A

Erythremias, beta- (3)- HBB

Erythrocytosis (3)- HBA2

Erythrocytosis, familial, 2, 263400 (3)- VHL

Erythrocytosis, somatic, 133100 (3)- JAK2

Erythrocytosis, somatic, 133100 (3)- SH2B3

Erythrokeratodermia variabilis et progressiva 1, 133200 (3)- GJB3

Esophageal cancer, somatic, 133239 (3)- TGFBR2

Estrogen resistance, 615363 (3)- ESR1

Ewing sarcoma, 612219 (3)- EWSR1

Exostoses, multiple, type 1, 133700 (3)- EXT1

Exostoses, multiple, type 2, 133701 (3)- EXT2

Exudative vitreoretinopathy 1, 133780 (3)- FZD4

Exudative vitreoretinopathy 2, X-linked, 305390 (3)- NDP

Exudative vitreoretinopathy 4, 601813 (3)- LRP5

Exudative vitreoretinopathy 5, 613310 (3)- TSPAN12

Exudative vitreoretinopathy 7, 617572 (3)- CTNNB1

F

Fabry disease, 301500 (3)- GLA

Fabry disease, cardiac variant, 301500 (3)- GLA

Factor V deficiency, 227400 (3)- F5

Factor XII deficiency, 234000 (3)- F12

Familial cold-induced inflammatory syndrome 1, 120100 (3)- NLRP3

Familial Mediterranean fever, AD, 134610 (3)- MEFV

Familial Mediterranean fever, AR, 249100 (3)- MEFV

Fanconi anemia, complementation group A, 227650 (3)- FANCA

Fanconi anemia, complementation group C, 227645 (3)- FANCC

Fanconi anemia, complementation group D1, 605724 (3)- BRCA2

Fanconi anemia, complementation group D2, 227646 (3)- FANCD2

Fanconi anemia, complementation group E, 600901 (3)- FANCE

Fanconi anemia, complementation group F, 603467 (3)- FANCF

Fanconi anemia, complementation group I, 609053 (3)- FANCI

Fanconi anemia, complementation group J, 609054 (3)- BRIP1

Fanconi anemia, complementation group N, 610832 (3)- PALB2

Fanconi anemia, complementation group O, 613390 (3)- RAD51C

Fanconi anemia, complementation group P, 613951 (3)- SLX4

Fanconi anemia, complementation group Q, 615272 (3)- ERCC4

Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 (3)- HNF4A

Febrile seizures, familial, 3A, 604403 (3)- SCN1A

Febrile seizures, familial, 3B, 613863 (3)- SCN9A

Fechtner syndrome, 153640 (3)- MYH9

Fetal akinesia deformation sequence, 208150 (3)- RAPSN

Fibrocalculous pancreatic diabetes, susceptibility to, 608189 (3)- SPINK1

Fibrochondrogenesis 1, 228520 (3)- COL11A1

Fibrochondrogenesis 2, 614524 (3)- COL11A2

Fibrosis of extraocular muscles, congenital, 1, 135700 (3)- KIF21A

Fibrosis of extraocular muscles, congenital, 2, 602078 (3)- PHOX2A

Fibrosis of extraocular muscles, congenital, 3A, 600638 (3)- TUBB3

Fibrosis of extraocular muscles, congenital, 3B, 135700 (3)- KIF21A

Focal cortical dysplasia, type II, somatic, 607341 (3)- TSC1

Focal dermal hypoplasia, 305600 (3)- PORCN

Foveal hypoplasia 1, 136520 (3)- PAX6

Fragile X syndrome, 300624 (3)- FMR1

Fragile X tremor/ataxia syndrome, 300623 (3)- FMR1

Frasier syndrome, 136680 (3)- WT1

Friedreich ataxia with retained reflexes, 229300 (3)- FXN

Friedreich ataxia, 229300 (3)- FXN

Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 (3)- C9orf72

Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 (3)- SQSTM1

Frontotemporal lobar degeneration, TARDBP-related, 612069 (3)- TARDBP

Fructose intolerance, hereditary, 229600 (3)- ALDOB

Fumarase deficiency, 606812 (3)- FH

Fundus albipunctatus, 136880 (3)- RDH5

Fundus albipunctatus, 136880 (3)- RLBP1

Fundus flavimaculatus, 248200 (3)- ABCA4

G

Galactokinase deficiency with cataracts, 230200 (3)- GALK1

Galactosemia, 230400 (3)- GALT

Gallbladder disease 4, 611465 (3)- ABCG8

GAPO syndrome, 230740 (3)- ANTXR1

Gardner syndrome, 175100 (3)- APC

Gastric cancer, familial diffuse, with or without cleft lip and/or palate, 137215 (3)- CDH1

Gastric cancer, somatic, 137215 (3)- KRAS

Gastric cancer, somatic, 613659 (3)- APC

Gastric cancer, somatic, 613659 (3)- ERBB2

Gastric cancer, somatic, 613659 (3)- FGFR2

Gastric cancer, somatic, 613659 (3)- MUTYH

Gastric cancer, somatic, 613659 (3)- PIK3CA

Gastrointestinal stromal tumor, 606764 (3)- SDHB

Gastrointestinal stromal tumor, 606764 (3)- SDHC

Gastrointestinal stromal tumor, familial, 606764 (3)- KIT

Gastrointestinal stromal tumor, somatic, 606764 (3)- PDGFRA

Gaucher disease, perinatal lethal, 608013 (3)- GBA

Gaucher disease, type I, 230800 (3)- GBA

Gaucher disease, type II, 230900 (3)- GBA

Gaucher disease, type III, 231000 (3)- GBA

Gaucher disease, type IIIC, 231005 (3)- GBA

Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 (3)- ROBO3

Geleophysic dysplasia 2, 614185 (3)- FBN1

Germ cell tumors, somatic, 273300 (3)- KIT

Gigantism due to GHRF hypersecretion (1)- GHRH

Glaucoma 1, open angle, 1O, 613100 (3)- NTF4

Glaucoma 1, open angle, E, 137760 (3)- OPTN

Glaucoma 1, open angle, G, 609887 (3)- WDR36

Glaucoma 1A, primary open angle, 137750 (3)- MYOC

Glaucoma 3, primary congenital, D, 613086 (3)- LTBP2

Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3)- CYP1B1

Glaucoma, normal tension, susceptibility to, 606657 (3)- OPA1

Glaucoma, normal tension, susceptibility to, 606657 (3)- OPTN

Glioblastoma 3, 613029 (3)- BRCA2

Glioblastoma, somatic, 137800 (3)- ERBB2

Glioma susceptibility 1, 137800 (3)- TP53

Glioma susceptibility 2, 613028 (3)- PTEN

Glioma, susceptibility to, somatic, 137800 (3)- IDH1

Glomerulosclerosis, focal segmental, 5, 613237 (3)- INF2

Glomerulosclerosis, focal segmental, 7, 616002 (3)- PAX2

Glucocorticoid deficiency 2, 607398 (3)- MRAP

Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 (3)- NNT

Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 (3)- MC2R

Glucocorticoid resistance, 615962 (3)- NR3C1

Glycine encephalopathy, 605899 (3)- AMT

Glycine encephalopathy, 605899 (3)- GCSH

Glycine encephalopathy, 605899 (3)- GLDC

Glycogen storage disease Ia, 232200 (3)- G6PC

Glycogen storage disease II, 232300 (3)- GAA

Glycogen storage disease IV, 232500 (3)- GBE1

Glycogen storage disease of heart, lethal congenital, 261740 (3)- PRKAG2

GM2-gangliosidosis, several forms, 272800 (3)- HEXA

Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, 138800 (3)- DICER1

Gout, PRPS-related, 300661 (3)- PRPS1

Growth hormone deficiency with pituitary anomalies, 182230 (3)- HESX1

Growth hormone deficiency, isolated partial, 615925 (3)- GHSR

Growth hormone deficiency, isolated, type IA, 262400 (3)- GH1

Growth hormone deficiency, isolated, type IB, 612781 (3)- GH1

Growth hormone deficiency, isolated, type IB, 612781 (3)- GHRHR

Growth hormone deficiency, isolated, type II, 173100 (3)- GH1

Growth hormone insensitivity with immunodeficiency, 245590 (3)- STAT5B

Growth hormone insensitivity, partial, 604271 (3)- GHR

Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747 (3)- IGF1

Growth retardation, developmental delay, facial dysmorphism, 612938 (3)- FTO

Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 (3)- OAT

H

H. pylori infection, susceptibility to, 600263 (3)- IFNGR1

HARP syndrome, 607236 (3)- PANK2

Hartsfield syndrome, 615465 (3)- FGFR1

Hashimoto thyroiditis, 140300 (3)- CTLA4

HDL deficiency, type 2, 604091 (3)- ABCA1

HDL response to hormone replacement, augmented (3)- ESR1

Heart block, nonprogressive, 113900 (3)- SCN5A

Heart block, progressive, type IA, 113900 (3)- SCN5A

Heart-hand syndrome, Slovenian type, 610140 (3)- LMNA

Heimler syndrome 1, 234580 (3)- PEX1

Heinz body anemia, 140700 (3)- HBA2

Heinz body anemias, beta-, 140700 (3)- HBB

Hemangioblastoma, cerebellar, somatic (3)- VHL

Hemangioma, capillary infantile, somatic, 602089 (3)- KDR

Hemangioma, capillary infantile, susceptibility to, 602089 (3)- ANTXR1

Hemangioma, capillary infantile, susceptibility to, 602089 (3)- KDR

Hemochromatosis, 235200 (3)- HFE

Hemoglobin H disease, nondeletional, 613978 (3)- HBA2

Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)- PRF1

Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)- UNC13D

Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3)- STX11

Hemophilia A, 306700 (3)- F8

Hemophilia B, 306900 (3)- F9

Hemorrhage, intracerebral, susceptibility to, 614519 (3)- COL4A1

Hemorrhagic diathesis due to antithrombin Pittsburgh, 613490 (3)- SERPINA1

Hepatic adenoma, somatic, 142330 (3)- HNF1A

Hepatic lipase deficiency, 614025 (3)- LIPC

Hepatitis B virus infection, susceptibility to, 610424 (3)- IFNGR1

Hepatoblastoma, somatic, 114550 (3)- APC

Hepatocellular carcinoma, 114550 (3)- TP53

Hepatocellular carcinoma, childhood type, somatic, 114550 (3)- MET

Hepatocellular carcinoma, somatic, 114550 (3)- CTNNB1

Hepatocellular carcinoma, somatic, 114550 (3)- PIK3CA

Hereditary motor and sensory neuropathy VIA, 601152 (3)- MFN2

Hereditary persistence of fetal hemoglobin, 141749 (3)- HBB

Hirschsprung disease, susceptibility to, 1, 142623 (3)- RET

HIV-1 viremia, susceptibility to, 609423 (3)- HLA-C

Holocarboxylase synthetase deficiency, 253270 (3)- HLCS

Holoprosencephaly 7, 610828 (3)- PTCH1

Holoprosencephaly 9, 610829 (3)- GLI2

Holt-Oram syndrome, 142900 (3)- TBX5

Homocystinuria due to MTHFR deficiency, 236250 (3)- MTHFR

HSAN2D, autosomal recessive, 243000 (3)- SCN9A

HSD10 mitochondrial disease, 300438 (3)- HSD17B10

Huntington disease, 143100 (3)- HTT

Hutchinson-Gilford progeria, 176670 (3)- LMNA

Hydatidiform mole, recurrent, 2, 614293 (3)- KHDC3L

Hydrocephalus due to aqueductal stenosis, 307000 (3)- L1CAM

Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000 (3)- L1CAM

Hydrocephalus with Hirschsprung disease, 307000 (3)- L1CAM

Hyperalphalipoproteinemia, 143470 (3)- CETP

Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3)- CYP21A2

Hyperbilirubinemia, familial transient neonatal, 237900 (3)- UGT1A1

Hypercalcemia, infantile, 1, 143880 (3)- CYP24A1

Hypercalciuric hypercalcemia (3)- CASR

Hypercholanemia, familial, 607748 (3)- TJP2

Hypercholesterolemia, due to ligand-defective apo B, 144010 (3)- APOB

Hypercholesterolemia, familial, 143890 (3)- LDLR

Hypercholesterolemia, familial, 3, 603776 (3)- PCSK9

Hypercholesterolemia, familial, modifier of, 143890 (3)- GHR

Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3)- PDGFRA

Hyper-IgD syndrome, 260920 (3)- MVK

Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3)- ABCC8

Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3)- KCNJ11

Hyperinsulinemic hypoglycemia, familial, 3, 602485 (3)- GCK

Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3)- INSR

Hyperinsulinism-hyperammonemia syndrome, 606762 (3)- GLUD1

Hyperlipoproteinemia, type Ib, 207750 (3)- APOC2

Hyperlipoproteinemia, type III, 617347 (3)- APOE

Hyperostosis, endosteal, 144750 (3)- LRP5

Hyperparathyroidism 4, 617343 (3)- GCM2

Hyperparathyroidism, familial primary, 145000 (3)- CDC73

Hyperparathyroidism, neonatal, 239200 (3)- CASR

Hyperparathyroidism-jaw tumor syndrome, 145001 (3)- CDC73

Hyperphenylalaninemia, BH4-deficient, B, 233910 (3)- GCH1

Hyperphosphatasia with mental retardation syndrome 1, 239300 (3)- PIGV

Hyperproinsulinemia, 616214 (3)- INS

Hypersensitivity syndrome, carbamazepine-induced, susceptibility to, 608579 (3)- HLA-A

Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 (3)- NR3C2

Hypertension, essential, 145500 (3)- PTGIS

Hypertension, essential, 145500 (3)- AGTR1

Hypertension, essential, susceptibility to, 145500 (3)- GNB3

Hypertension, essential, susceptibility to, 145500 (3)- AGT

Hyperthyroidism, familial gestational, 603373 (3)- TSHR

Hyperthyroidism, nonautoimmune, 609152 (3)- TSHR

Hypertrichotic osteochondrodysplasia, 239850 (3)- ABCC9

Hypertriglyceridemia, transient infantile, 614480 (3)- GPD1

Hypertrypsinemia, neonatal (3)- CFTR

Hypoalphalipoproteinemia, 604091 (3)- APOA1

Hypobetalipoproteinemia, 615558 (3)- APOB

Hypocalcemia, autosomal dominant 2, 615361 (3)- GNA11

Hypocalcemia, autosomal dominant, 601198 (3)- CASR

Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3)- CASR

Hypocalciuric hypercalcemia, type I, 145980 (3)- CASR

Hypocalciuric hypercalcemia, type II, 145981 (3)- GNA11

Hypocalciuric hypercalcemia, type III, 600740 (3)- AP2S1

Hypochondroplasia, 146000 (3)- FGFR3

Hypochromic microcytic anemia (3)- HBA2

Hypoglycemia of infancy, leucine-sensitive, 240800 (3)- ABCC8

Hypogonadotropic hypogonadism 10 with or without anosmia, 614839 (3)- TAC3

Hypogonadotropic hypogonadism 11 with or without anosmia, 614840 (3)- TACR3

Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 (3)- WDR11

Hypogonadotropic hypogonadism 15 with or without anosmia, 614880 (3)- HS6ST1

Hypogonadotropic hypogonadism 2 with or without anosmia, 147950 (3)- FGFR1

Hypogonadotropic hypogonadism 23 with or without anosmia, 228300 (3)- LHB

Hypogonadotropic hypogonadism 24 without anosmia, 229070 (3)- FSHB

Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 (3)- PROKR2

Hypogonadotropic hypogonadism 4 with or without anosmia, 610628 (3)- PROK2

Hypogonadotropic hypogonadism 5 with or without anosmia, 612370 (3)- CHD7

Hypogonadotropic hypogonadism 6 with or without anosmia, 612702 (3)- FGF8

Hypogonadotropic hypogonadism 7 without anosmia, 146110 (3)- GNRHR

Hypogonadotropic hypogonadism 8 with or without anosmia, 614837 (3)- KISS1R

Hypogonadotropic hypogonadism 9 with or without anosmia, 614838 (3)- NSMF

Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900 (3)- AKT2

Hypokalemic periodic paralysis, type 1, 170400 (3)- CACNA1S

Hypomagnesemia 1, intestinal, 602014 (3)- TRPM6

Hypomagnesemia 6, renal, 613882 (3)- CNNM2

Hypomagnesemia, seizures, and mental retardation, 616418 (3)- CNNM2

Hypoparathyroidism, autosomal dominant, 146200 (3)- PTH

Hypoparathyroidism, autosomal recessive, 146200 (3)- PTH

Hypoparathyroidism, familial isolated, 146200 (3)- GCM2

Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 (3)- GATA3

Hypoparathyroidism-retardation-dysmorphism syndrome, 241410 (3)- TBCE

Hypophosphatasia, adult, 146300 (3)- ALPL

Hypophosphatasia, childhood, 241510 (3)- ALPL

Hypophosphatasia, infantile, 241500 (3)- ALPL

Hypoplastic left heart syndrome 2, 614435 (3)- NKX2-5

Hypoprothrombinemia, 613679 (3)- F2

Hypospadias 1, X-linked, 300633 (3)- AR

Hypospadias 2, X-linked, 300758 (3)- MAMLD1

Hypothryoidism, congenital, nongoitrous 4, 275100 (3)- TSHB

Hypothyroidism, central, and testicular enlargement, 300888 (3)- IGSF1

Hypothyroidism, congenital nongoitrous, 5, 225250 (3)- NKX2-5

Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 (3)- PAX8

Hypothyroidism, congenital, nongoitrous, 1 275200 (3)- TSHR

Hypothyroidism, congenital, nongoitrous, 6, 614450 (3)- THRA

Hypotrichosis 4, 146550 (3)- HR

Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 (3)- CDH3

Hystrix-like ichthyosis with deafness, 602540 (3)- GJB2

I

Ichthyosis prematurity syndrome, 608649 (3)- SLC27A4

Ichthyosis, spastic quadriplegia, and mental retardation, 614457 (3)- ELOVL4

Ichthyosis, X-linked, 308100 (3)- STS

IMAGE syndrome, 614732 (3)- CDKN1C

Immunodeficiency 14, 615513 (3)- PIK3CD

Immunodeficiency 27A, mycobacteriosis, AR, 209950 (3)- IFNGR1

Immunodeficiency 27B, mycobacteriosis, AD, 615978 (3)- IFNGR1

Immunodeficiency 28, mycobacteriosis, 614889 (3)- IFNGR2

Immunodeficiency 29, mycobacteriosis, 614890 (3)- IL12B

Immunodeficiency 34, mycobacteriosis, X-linked, 300645 (3)- CYBB

Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367 (3)- IL2RA

Immunodeficiency, common variable, 13, 616873 (3)- IKZF1

Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3)- FOXP3

Increased responsiveness to growth hormone (3)- GHR

Infantile cerebellar-retinal degeneration, 614559 (3)- ACO2

Infantile liver failure syndrome 2, 616483 (3)- NBAS

Infantile neuroaxonal dystrophy 1, 256600 (3)- PLA2G6

Insensitivity to pain, congenital, 243000 (3)- SCN9A

Insensitivity to pain, congenital, with anhidrosis, 256800 (3)- NTRK1

Insulin resistance, severe, digenic, 125853 (3)- PPP1R3A

Insulin resistance, severe, digenic, 604367 (3)- PPARG

Insulin-like growth factor I, resistance to, 270450 (3)- IGF1R

Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, 617450 (3)- PPM1D

Invasive pneumococcal disease, recurrent isolated, 1, 610799 (3)- IRAK4

IRAK4 deficiency, 607676 (3)- IRAK4

Ischiocoxopodopatellar syndrome, 147891 (3)- TBX4

IVIC syndrome, 147750 (3)- SALL4

J

K

L

Lacticacidemia due to PDX1 deficiency, 245349 (3)- PDX1

LADD syndrome, 149730 (3)- FGFR2

LADD syndrome, 149730 (3)- FGFR3

Laing distal myopathy, 160500 (3)- MYH7

Langer mesomelic dysplasia, 249700 (3)- SHOX

Laron dwarfism, 262500 (3)- GHR

Lateral meningocele syndrome, 130720 (3)- NOTCH3

LDL cholesterol level QTL2, 143890 (3)- LDLR

Leber congenital amaurosis 1, 204000 (3)- GUCY2D

Leber congenital amaurosis 10, 611755 (3)- CEP290

Leber congenital amaurosis 11, 613837 (3)- IMPDH1

Leber congenital amaurosis 12, 610612 (3)- RD3

Leber congenital amaurosis 13, 612712 (3)- RDH12

Leber congenital amaurosis 14, 613341 (3)- LRAT

Leber congenital amaurosis 15, 613843 (3)- TULP1

Leber congenital amaurosis 16, 614186 (3)- KCNJ13

Leber congenital amaurosis 17, 615360 (3)- GDF6

Leber congenital amaurosis 18, 608133 (3)- PRPH2

Leber congenital amaurosis 2, 204100 (3)- RPE65

Leber congenital amaurosis 3, 604232 (3)- SPATA7

Leber congenital amaurosis 4, 604393 (3)- AIPL1

Leber congenital amaurosis 5, 604537 (3)- LCA5

Leber congenital amaurosis 6, 613826 (3)- RPGRIP1

Leber congenital amaurosis 7, 613829 (3)- CRX

Leber congenital amaurosis 8, 613835 (3)- CRB1

Leber congenital amaurosis 9, 608553 (3)- NMNAT1

Left ventricular noncompaction 10, 615396 (3)- MYBPC3

Left ventricular noncompaction 3, 601493 (3)- LDB3

Left ventricular noncompaction 4, 613424 (3)- ACTC1

Left ventricular noncompaction 5, 613426 (3)- MYH7

Left ventricular noncompaction 6, 601494 (3)- TNNT2

Left ventricular noncompaction 9, 611878 (3)- TPM1

Legg-Calve-Perthes disease, 150600 (3)- COL2A1

Legius syndrome, 611431 (3)- SPRED1

Leigh syndrome, 256000 (3)- SDHA

Leiomyoma, uterine, somatic, 150699 (1)- HMGA2

Leiomyomatosis and renal cell cancer, 150800 (3)- FH

LEOPARD syndrome 1, 151100 (3)- PTPN11

LEOPARD syndrome 2, 611554 (3)- RAF1

LEOPARD syndrome 3, 613707 (3)- BRAF

Leprechaunism, 246200 (3)- INSR

Leri-Weill dyschondrosteosis, 127300 (3)- SHOX

Lethal congenital contracture syndrome 5, 615368 (3)- DNM2

Leukemia, acute lymphoblastic, 613065 (3)- NBN

Leukemia, acute lymphoblastic, somatic, 613065 (3)- FLT3

Leukemia, acute myeloid, 601626 (1)- NSD1

Leukemia, acute myeloid, 601626 (3)- KIT

Leukemia, acute myeloid, 601626 (3)- KRAS

Leukemia, acute myeloid, 601626 (3)- RUNX1

Leukemia, acute myeloid, 601626 (3)- TERT

Leukemia, acute myeloid, reduced survival in, somatic, 601626 (3)- FLT3

Leukemia, acute myeloid, somatic, 601626 (3)- CEBPA

Leukemia, acute myeloid, somatic, 601626 (3)- ETV6

Leukemia, acute myeloid, somatic, 601626 (3)- FLT3

Leukemia, acute myeloid, somatic, 601626 (3)- JAK2

Leukemia, acute myeloid, somatic, 601626 (3)- NPM1

Leukemia, acute promyelocytic, PL2F/RARA type (3)- ZBTB16

Leukemia, acute promyelocytic, somatic, 102578 (3)- STAT5B

Leukemia, juvenile myelomonocytic, 607785 (3)- NF1

Leukemia, juvenile myelomonocytic, somatic, 607785 (3)- PTPN11

Leukemia/lymphoma, B-cell, 2 (3)- BCL2

Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 (3)- POLR3A

Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3)- POLR3B

Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 (3)- CSF1R

Lewy body dementia, susceptibility to, 127750 (3)- GBA

Leydig cell adenoma, somatic, with precocious puberty, 176410 (3)- LHCGR

Leydig cell hypoplasia with hypergonadotropic hypogonadism, 238320 (3)- LHCGR

Leydig cell hypoplasia with pseudohermaphroditism, 238320 (3)- LHCGR

Lhermitte-Duclos syndrome, 158350 (3)- PTEN

Li-Fraumeni syndrome, 151623 (3)- TP53

Li-Fraumeni syndrome, 609265 (3)- CHEK2

LIG4 syndrome, 606593 (3)- LIG4

Linear skin defects with multiple congenital anomalies 1, 309801 (3)- HCCS

Lipodystrophy, familial partial, type 2, 151660 (3)- LMNA

Lipodystrophy, familial partial, type 3, 604367 (3)- PPARG

Lipodystrophy, familial partial, type 4, 613877 (3)- PLIN1

Lipodystrophy, familial partial, type 6, 615980 (3)- LIPE

Lipoid adrenal hyperplasia, 201710 (3)- STAR

Lipoma, somatic (3)- MEN1

Lipoprotein glomerulopathy, 611771 (3)- APOE

Lissencephaly 1, 607432 (3)- PAFAH1B1

Lissencephaly, X-linked, 300067 (3)- DCX

Loeys-Dietz syndrome 1, 609192 (3)- TGFBR1

Loeys-Dietz syndrome 2, 610168 (3)- TGFBR2

Loeys-Dietz syndrome 3, 613795 (3)- SMAD3

Long QT syndrome 1, 192500 (3)- KCNQ1

Long QT syndrome 1, acquired, susceptibility to, 192500 (3)- KCNQ1

Long QT syndrome 12, 612955 (3)- SNTA1

Long QT syndrome 2, 613688 (3)- KCNH2

Long QT syndrome 2, acquired, susceptibility to, 613688 (3)- KCNH2

Long QT syndrome 4, 600919 (3)- ANK2

Long QT syndrome 5, 613695 (3)- KCNE1

Long QT syndrome 6, 613693 (3)- KCNE2

Long QT syndrome 9, 611818 (3)- CAV3

Long QT syndrome-10, 611819 (3)- SCN4B

Long QT syndrome-3, 603830 (3)- SCN5A

Lopes-Maciel-Rodan syndrome, 617435 (3)- HTT

Low density lipoprotein cholesterol level QTL 1, 603776 (3)- PCSK9

Lowe syndrome, 309000 (3)- OCRL

Lujan-Fryns syndrome, 309520 (3)- MED12

Lumbar disc herniation, susceptibility to, 603932 (3)- COL11A1

Lung cancer, somatic, 211980 (3)- KRAS

Luteinizing hormone resistance, female, 238320 (3)- LHCGR

Lymphangioleiomyomatosis, 606690 (3)- TSC1

Lymphangioleiomyomatosis, somatic, 606690 (3)- TSC2

Lymphoma, B-cell (2)- BCL6

Lymphoma, B-cell non-Hodgkin, somatic (3)- ATM

Lymphoma, mantle cell, somatic (3)- ATM

Lymphoma, non-Hodgkin, 605027 (3)- PRF1

Lymphoproliferative syndrome, X-linked, 1, 308240 (3)- SH2D1A

Lymphoproliferative syndrome, X-linked, 2, 300635 (3)- XIAP

Lysyl hydroxylase 3 deficiency, 612394 (3)- PLOD3

M

Machado-Joseph disease, 109150 (3)- ATXN3

Macrocephaly/autism syndrome, 605309 (3)- PTEN

Macroglobulinemia, Waldenstrom, somatic, 153600 (3)- MYD88

Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3)- MYH9

Macular corneal dystrophy, 217800 (3)- CHST6

Macular degeneration, age-related, 1, 603075 (3)- HMCN1

Macular degeneration, age-related, 2, 153800 (3)- ABCA4

Macular degeneration, juvenile, 248200 (3)- CNGB3

Macular degeneration, X-linked atrophic, 300834 (3)- RPGR

Macular dystrophy, patterned, 1, 169150 (3)- PRPH2

Macular dystrophy, retinal, 2, 608051 (3)- PROM1

Macular dystrophy, vitelliform, 2, 153700 (3)- BEST1

Macular dystrophy, vitelliform, 3, 608161 (3)- PRPH2

Macular dystrophy, vitelliform, 5, 616152 (3)- IMPG2

Malaria, resistance to, 611162 (3)- HBB

Malignant hyperthermia susceptibility 1, 145600 (3)- RYR1

Malignant hyperthermia susceptibility 5, 601887 (3)- CACNA1S

Malignant melanoma, somatic, 155600 (3)- PTEN

Malouf syndrome, 212112 (3)- LMNA

Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 (3)- POLD1

Mandibuloacral dysplasia with type B lipodystrophy, 608612 (3)- ZMPSTE24

Mandibuloacral dysplasia, 248370 (3)- LMNA

Maple syrup urine disease, type Ia, 248600 (3)- BCKDHA

Maple syrup urine disease, type Ib, 248600 (3)- BCKDHB

Maple syrup urine disease, type II, 248600 (3)- DBT

Marfan lipodystrophy syndrome, 616914 (3)- FBN1

Marfan syndrome, 154700 (3)- FBN1

Marinesco-Sjogren syndrome, 248800 (3)- SIL1

Marshall syndrome, 154780 (3)- COL11A1

Martsolf syndrome, 212720 (3)- RAB3GAP2

MASA syndrome, 303350 (3)- L1CAM

MASS syndrome, 604308 (3)- FBN1

Mast cell disease, 154800 (3)- KIT

Maturity-onset diabetes of the young 6, 606394 (3)- NEUROD1

Maturity-onset diabetes of the young, type 10, 613370 (3)- INS

Maturity-onset diabetes of the young, type 11, 613375 (3)- BLK

Maturity-onset diabetes of the young, type 13, 616329 (3)- KCNJ11

Maturity-onset diabetes of the young, type IX, 612225 (3)- PAX4

Maturity-onset diabetes of the young, type VII, 610508 (3)- KLF11

Maturity-onset diabetes of the young, type VIII, 609812 (3)- CEL

May-Hegglin anomaly, 155100 (3)- MYH9

McCune-Albright syndrome, somatic, mosaic 174800 (3)- GNAS

McKusick-Kaufman syndrome, 236700 (3)- MKKS

Meacham syndrome, 608978 (3)- WT1

Meckel syndrome 1, 249000 (3)- MKS1

Meckel syndrome 4, 611134 (3)- CEP290

Meckel syndrome 5, 611561 (3)- RPGRIP1L

Meckel syndrome 6, 612284 (3)- CC2D2A

Meckel syndrome 7, 267010 (3)- NPHP3

Meconium ileus, 614665 (3)- GUCY2C

Medullary thyroid carcinoma, 155240 (3)- RET

Medullary thyroid carcinoma, familial, 155240 (3)- NTRK1

Medulloblastoma, 155255 (3)- BRCA2

Medulloblastoma, desmoplastic, 155255 (3)- SUFU

Medulloblastoma, somatic, 155255 (3)- CTNNB1

Medulloblastoma, somatic, 155255 (3)- PTCH2

Meesmann corneal dystrophy, 122100 (3)- KRT12

Meesmann corneal dystrophy, 122100 (3)- KRT3

Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501 (3)- PIK3CA

Megalocornea 1, X-linked 309300 (3)- CHRDL1

Meier-Gorlin syndrome 1, 224690 (3)- ORC1

Meier-Gorlin syndrome 2, 613800 (3)- ORC4

Meier-Gorlin syndrome 3, 613803 (3)- ORC6

Meier-Gorlin syndrome 4, 613804 (3)- CDT1

Melanocytic nevus syndrome, congenital, somatic, 137550 (3)- NRAS

Melanoma and neural system tumor syndrome, 155755 (3)- CDKN2A

Melanoma, cutaneous malignant, 2, 155601 (3)- CDKN2A

Melanoma, cutaneous malignant, 3, 609048 (3)- CDK4

Melanoma, cutaneous malignant, 5, 613099 (3)- MC1R

Melanoma, cutaneous malignant, 9, 615134 (3)- TERT

Melanoma, cutaneous malignant, susceptibility to, 8, 601800 (3)- TYR

Melanoma, cutaneous malignant, susceptibility to, 8, 614456 (3)- MITF

Melanoma, malignant, somatic (3)- BRAF

Melanoma, malignant, somatic (3)- STK11

Meningioma, 607174 (3)- PTEN

Meningioma, familial, susceptibility to, 607174 (3)- SMARCE1

Meningioma, familial, susceptibility to, 607174 (3)- SUFU

Meningioma, NF2-related, somatic, 607174 (3)- NF2

Menkes disease, 309400 (3)- ATP7A

Mental retardation, autosomal dominant 1, 156200 (3)- MBD5

Mental retardation, autosomal dominant 19, 615075 (3)- CTNNB1

Mental retardation, autosomal dominant 29, 616078 (3)- SETBP1

Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3)- INPP5E

Mental retardation, X-linked 1/78, 309530 (3)- IQSEC2

Mental retardation, X-linked 19, 300844 (3)- RPS6KA3

Mental retardation, X-linked syndromic, Lubs type, 300260 (3)- MECP2

Mental retardation, X-linked, syndromic 13, 300055 (3)- MECP2

Mental retardation, X-linked, syndromic 33, 300966 (3)- TAF1

Mental retardation, X-linked, with isolated growth hormone deficiency, 300123 (3)- SOX3

Merkel cell carcinoma, somatic (3)- SDHD

Mesothelioma, somatic, 156240 (3)- WT1

Metachondromatosis, 156250 (3)- PTPN11

Metachromatic leukodystrophy, 250100 (3)- ARSA

Methemoglobinemias, beta- (3)- HBB

Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3)- MMACHC

Methylmalonic aciduria, mut(0) type, 251000 (3)- MUT

Methylmalonic aciduria, vitamin B12-responsive, 251100 (3)- MMAA

Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3)- MMAB

Mevalonic aciduria, 610377 (3)- MVK

Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3)- TUBGCP6

Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 (3)- PLK4

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950 (3)- KIF11

Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 (3)- MSMO1

Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3)- MED17

Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 (3)- ADAMTS18

Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220 (3)- BEST1

Microphthalmia with coloboma 6, 613703 (3)- GDF3

Microphthalmia with coloboma 6, digenic, 613703 (3)- GDF6

Microphthalmia with limb anomalies, 206920 (3)- SMOC1

Microphthalmia, isolated 3, 611038 (3)- RAX

Microphthalmia, isolated 4, 613094 (3)- GDF6

Microphthalmia, isolated 5, 611040 (3)- MFRP

Microphthalmia, isolated 6, 613517 (3)- PRSS56

Microphthalmia, isolated 7, 613704 (3)- GDF3

Microphthalmia, isolated 8, 615113 (3)- ALDH1A3

Microphthalmia, isolated, with coloboma 10, 616428 (3)- RBP4

Microphthalmia, isolated, with coloboma 8, 601186 (3)- STRA6

Microphthalmia, isolated, with coloboma 9, 615145 (3)- TENM3

Microphthalmia, syndromic 2, 300166 (3)- BCOR

Microphthalmia, syndromic 3, 206900 (3)- SOX2

Microphthalmia, syndromic 5, 610125 (3)- OTX2

Microphthalmia, syndromic 6, 607932 (3)- BMP4

Microphthalmia, syndromic 9, 601186 (3)- STRA6

Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3)- LTBP2

Microvascular complications of diabetes 2, 612623 (3)- EPO

Microvascular complications of diabetes 3, 612624 (3)- ACE

Microvascular complications of diabetes 6, 612634 (3)- SOD2

Microvascular complications of diabetes 7, 612635 (3)- HFE

Migraine, familial basilar, 602481 (3)- ATP1A2

Migraine, familial hemiplegic, 1, 141500 (3)- CACNA1A

Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)- CACNA1A

Migraine, familial hemiplegic, 2, 602481 (3)- ATP1A2

Migraine, familial hemiplegic, 3, 609634 (3)- SCN1A

Migraine, susceptibility to, 157300 (3)- ESR1

Minicore myopathy with external ophthalmoplegia, 255320 (3)- RYR1

MIRAGE syndrome, 617053 (3)- SAMD9

Mismatch repair cancer syndrome, 276300 (3)- MLH1

Mismatch repair cancer syndrome, 276300 (3)- MSH2

Mismatch repair cancer syndrome, 276300 (3)- MSH6

Mismatch repair cancer syndrome, 276300 (3)- PMS2

Mitchell-Riley syndrome, 615710 (3)- RFX6

Mitochondrial complex II deficiency, 252011 (3)- SDHD

Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 (3)- SLC25A4

Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418 (3)- SLC25A4

Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3)- POLG

Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 (3)- POLG

Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3)- TWNK

Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3)- RRM2B

Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 (3)- RRM2B

Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3)- POLG

Mitochondrial respiratory chain complex II deficiency, 252011 (3)- SDHA

Miyoshi muscular dystrophy 1, 254130 (3)- DYSF

MODY, type I, 125850 (3)- HNF4A

MODY, type II, 125851 (3)- GCK

MODY, type III, 600496 (3)- HNF1A

MODY, type IV, 606392 (3)- PDX1

Mohr-Tranebjaerg syndrome, 304700 (3)- TIMM8A

Mosaic variegated aneuploidy syndrome 1, 257300 (3)- BUB1B

Mosaic variegated aneuploidy syndrome 2, 614114 (3)- CEP57

Moyamoya disease 5, 614042 (3)- ACTA2

Muckle-Wells syndrome, 191900 (3)- NLRP3

Mucolipidosis II alpha/beta, 252500 (3)- GNPTAB

Mucolipidosis III alpha/beta, 252600 (3)- GNPTAB

Mucopolysaccharidosis Ih, 607014 (3)- IDUA

Mucopolysaccharidosis Ih/s, 607015 (3)- IDUA

Mucopolysaccharidosis II, 309900 (3)- IDS

Mucopolysaccharidosis Is, 607016 (3)- IDUA

Muenke syndrome, 602849 (3)- FGFR3

Muir-Torre syndrome, 158320 (3)- MLH1

Muir-Torre syndrome, 158320 (3)- MSH2

Mullerian aplasia and hyperandrogenism, 158330 (3)- WNT4

Multiple endocrine neoplasia 1, 131100 (3)- MEN1

Multiple endocrine neoplasia IIA, 171400 (3)- RET

Multiple endocrine neoplasia IIB, 162300 (3)- RET

Multiple endocrine neoplasia, type IV, 610755 (3)- CDKN1B

Multiple myeloma, resistance to, 254500 (3)- LIG4

Multiple pterygium syndrome, lethal type, 253290 (3)- CHRNA1

Multiple pterygium syndrome, lethal type, 253290 (3)- CHRND

Multiple sclerosis, susceptibility to, 1, 126200 (3)- HLA-DQB1

Multiple sclerosis, susceptibility to, 1, 126200 (3)- HLA-DRB1

Multiple sclerosis, susceptibility to, 5, 614810 (3)- TNFRSF1A

Multiple self-healing squamous epithelioma, susceptibility to, 132800 (3)- TGFBR1

Multiple synostoses syndrome 2, 610017 (3)- GDF5

Multisystemic smooth muscle dysfunction syndrome, 613834 (3)- ACTA2

Muscular dystrophy, congenital, 613205 (3)- LMNA

Muscular dystrophy, limb-girdle, type 1B, 159001 (3)- LMNA

Muscular dystrophy, limb-girdle, type 2A, 253600 (3)- CAPN3

Muscular dystrophy, limb-girdle, type 2B, 253601 (3)- DYSF

Muscular dystrophy, limb-girdle, type 2F, 601287 (3)- SGCD

Muscular dystrophy, limb-girdle, type 2H, 254110 (3)- TRIM32

Muscular dystrophy, limb-girdle, type IC, 607801 (3)- CAV3

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3)- POMT1

Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 (3)- POMT1

Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 (3)- POMT1

Myasthenic syndrome, congenital, 10, 254300 (3)- DOK7

Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 (3)- RAPSN

Myasthenic syndrome, congenital, 1A, slow-channel, 601462 (3)- CHRNA1

Myasthenic syndrome, congenital, 1B, fast-channel, 608930 (3)- CHRNA1

Myasthenic syndrome, congenital, 2A, slow-channel, 616313 (3)- CHRNB1

Myasthenic syndrome, congenital, 3B, fast-channel, 616322 (3)- CHRND

Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3)- CHRNE

Myasthenic syndrome, congenital, 4B, fast-channel, 616324 (3)- CHRNE

Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 (3)- CHRNE

Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)- CHAT

Myelofibrosis with myeloid metaplasia, somatic, 254450 (3)- MPL

Myelofibrosis, somatic, 254450 (3)- CALR

Myelofibrosis, somatic, 254450 (3)- JAK2

Myelofibrosis, somatic, 254450 (3)- SH2B3

Myeloid leukemia, acute, M4/M4Eo subtype, somatic, 601626 (1)- CBFB

Myelokathexis, isolated (3)- CXCR4

Myeloproliferative disorder with eosinophilia, 131440 (4)- PDGFRB

Myhre syndrome, 139210 (3)- SMAD4

Myocardial infarction, susceptibility to (3)- ACE

Myocardial infarction, susceptibility to, 608446 (3)- ESR1

Myofibromatosis, infantile, 1, 228550 (3)- PDGFRB

Myopathy, centronuclear 1, 160150 (3)- DNM2

Myopathy, distal, Tateyama type, 614321 (3)- CAV3

Myopathy, distal, with anterior tibial onset, 606768 (3)- DYSF

Myopathy, distal, with rimmed vacuoles, 617158 (3)- SQSTM1

Myopathy, myofibrillar, 1, 601419 (3)- DES

Myopathy, myofibrillar, 2, 608810 (3)- CRYAB

Myopathy, myofibrillar, 4, 609452 (3)- LDB3

Myopathy, myofibrillar, 6, 612954 (3)- BAG3

Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related, 613869 (3)- CRYAB

Myopathy, myosin storage, autosomal dominant, 608358 (3)- MYH7

Myopathy, myosin storage, autosomal recessive, 255160 (3)- MYH7

Myopia 21, autosomal dominant, 614167 (3)- ZNF644

Myopia, high, with cataract and vitreoretinal degeneration, 614292 (3)- P3H2

Myotonia congenita, dominant, 160800 (3)- CLCN1

Myotonia congenita, recessive, 255700 (3)- CLCN1

Myotonia levior, recessive (3)- CLCN1

Myotonic dystrophy 1, 160900 (3)- DMPK

Myotubular myopathy, X-linked, 310400 (3)- MTM1

Myxoma, intracardiac, 255960 (3)- PRKAR1A

N

Naegeli-Franceschetti-Jadassohn syndrome, 161000 (3)- KRT14

Nance-Horan syndrome, 302350 (3)- NHS

Nanophthalmos 2, 609549 (3)- MFRP

Nasopharyngeal carcinoma 1 (2)- NPC1

Nasopharyngeal carcinoma, 607107 (3)- TP53

Naxos disease, 601214 (3)- JUP

Nemaline myopathy 5, Amish type, 605355 (3)- TNNT1

Nephrogenic syndrome of inappropriate antidiuresis, 300539 (3)- AVPR2

Nephronophthisis 1, juvenile, 256100 (3)- NPHP1

Nephronophthisis 13, 614377 (3)- WDR19

Nephronophthisis 14, 614844 (3)- ZNF423

Nephronophthisis 15, 614845 (3)- CEP164

Nephronophthisis 2, infantile, 602088 (3)- INVS

Nephronophthisis 3, 604387 (3)- NPHP3

Nephronophthisis 4, 606966 (3)- NPHP4

Nephrotic syndrome, type 4, 256370 (3)- WT1

Neu-Laxova syndrome 1, 256520 (3)- PHGDH

Neural tube defects, susceptibility to, 601634 (3)- MTHFR

Neuroblastoma, susceptibility to, 3, 613014 (3)- ALK

Neurocutaneous melanosis, somatic, 249400 (3)- NRAS

Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 (3)- SQSTM1

Neurodegeneration with brain iron accumulation 1, 234200 (3)- PANK2

Neurodegeneration with brain iron accumulation 2B, 610217 (3)- PLA2G6

Neuroepithelioma, 612219 (3)- EWSR1

Neurofibromatosis, familial spinal, 162210 (3)- NF1

Neurofibromatosis, type 1, 162200 (3)- NF1

Neurofibromatosis, type 2, 101000 (3)- NF2

Neurofibromatosis-Noonan syndrome, 601321 (3)- NF1

Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3)- RYR1

Neuropathy, congenital hypomyelinating, 605253 (3)- MPZ

Neuropathy, hereditary sensory and autonomic, type IA, 162400 (3)- SPTLC1

Neuropathy, hereditary sensory and autonomic, type IC, 613640 (3)- SPTLC2

Neuropathy, hereditary sensory, type ID, 613708 (3)- ATL1

Neuropathy, recurrent, with pressure palsies, 162500 (3)- PMP22

Neutropenia, cyclic, 162800 (3)- ELANE

Neutropenia, severe congenital 1, autosomal dominant, 202700 (3)- ELANE

Neutropenia, severe congenital, 7, autosomal recessive, 617014 (3)- CSF3R

Neutropenia, severe congenital, X-linked, 300299 (3)- WAS

Nevus sebaceous or woolly hair nevus, somatic, 162900 (3)- HRAS

Nevus, epidermal, somatic, 162900 (3)- FGFR3

Nevus, epidermal, somatic, 162900 (3)- PIK3CA

Newfoundland rod-cone dystrophy, 607476 (3)- RLBP1

Niemann-Pick disease, type A, 257200 (3)- SMPD1

Niemann-Pick disease, type B, 607616 (3)- SMPD1

Niemann-Pick disease, type C1, 257220 (3)- NPC1

Niemann-pick disease, type C2, 607625 (3)- NPC2

Niemann-Pick disease, type D, 257220 (3)- NPC1

Night blindness, congenital stationary (complete), 1A, X-linked, 310500 (3)- NYX

Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 (3)- GRM6

Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 (3)- TRPM1

Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830 (3)- SLC24A1

Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3)- GPR179

Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 (3)- LRIT3

Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071 (3)- CACNA1F

Night blindness, congenital stationary, autosomal dominant 1, 610445 (3)- RHO

Night blindness, congenital stationary, autosomal dominant 2, 163500 (3)- PDE6B

Night blindness, congenital stationary, autosomal dominant 3, 610444 (3)- GNAT1

Night blindness, congenital stationary, type 1H, 617024 (3)- GNB3

Nijmegen breakage syndrome, 251260 (3)- NBN

Nijmegen breakage syndrome-like disorder, 613078 (3)- RAD50

Nonaka myopathy, 605820 (3)- GNE

Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3)- EGFR

Nonsmall cell lung cancer, somatic (3)- BRAF

Nonsmall cell lung cancer, somatic, 211980 (3)- PIK3CA

Nonsmall cell lung cancer, susceptibility to, 211980 (3)- EGFR

Noonan syndrome 1, 163950 (3)- PTPN11

Noonan syndrome 3, 609942 (3)- KRAS

Noonan syndrome 4, 610733 (3)- SOS1

Noonan syndrome 5, 611553 (3)- RAF1

Noonan syndrome 6, 613224 (3)- NRAS

Noonan syndrome 7, 613706 (3)- BRAF

Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 (3)- CBL

Norrie disease, 310600 (3)- NDP

Nystagmus 1, congenital, X-linked, 310700 (3)- FRMD7

Nystagmus 6, congenital, X-linked, 300814 (3)- GPR143

Nystagmus, infantile periodic alternating, X-linked, 310700 (3)- FRMD7

O

Obesity with impaired prohormone processing, 600955 (3)- PCSK1

Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (3)- POMC

Obesity, autosomal dominant, 601665 (3)- MC4R

Obesity, early-onset, susceptibility to, 601665 (3)- POMC

Obesity, hyperphagia, and developmental delay, 613886 (3)- NTRK2

Obesity, mild, early-onset, 601665 (3)- NR0B2

Obesity, morbid, due to leptin deficiency, 614962 (3)- LEP

Obesity, morbid, due to leptin receptor deficiency, 614963 (3)- LEPR

Obesity, severe, 601665 (3)- PPARG

Obesity, severe, 601665 (3)- SIM1

Obesity, susceptibility to, BMIQ11, 300306 (3)- SLC6A14

Obesity, susceptibility to, BMIQ12, 612362 (3)- PCSK1

Obesity, susceptibility to, BMIQ14, 612460 (3)- FTO

Occipital horn syndrome, 304150 (3)- ATP7A

Occult macular dystrophy, 613587 (3)- RP1L1

Ocular albinism, type I, Nettleship-Falls type, 300500 (3)- GPR143

Oculoauricular syndrome, 612109 (3)- HMX1

Oculopharyngeal muscular dystrophy, 164300 (3)- PABPN1

Odontohypophosphatasia, 146300 (3)- ALPL

Oguchi disease-1, 258100 (3)- SAG

Oguchi disease-2, 613411 (3)- GRK1

Ohdo syndrome, X-linked, 300895 (3)- MED12

Oligodontia-colorectal cancer syndrome, 608615 (3)- AXIN2

Omenn syndrome, 603554 (3)- DCLRE1C

Omenn syndrome, 603554 (3)- RAG1

Omenn syndrome, 603554 (3)- RAG2

Opitz-Kaveggia syndrome, 305450 (3)- MED12

Optic atrophy 1, 165500 (3)- OPA1

Optic atrophy 3 with cataract, 165300 (3)- OPA3

Optic atrophy 7, 612989 (3)- TMEM126A

Optic atrophy plus syndrome, 125250 (3)- OPA1

Optic disc anomalies with retinal and/or macular dystrophy, 212550 (3)- SIX6

Optic nerve hypoplasia and abnormalities of the central nervous system, 206900 (3)- SOX2

Optic nerve hypoplasia, 165550 (3)- PAX6

Ornithine transcarbamylase deficiency, 311250 (3)- OTC

Orofacial cleft 11, 600625 (3)- BMP4

Orofaciodigital syndrome I, 311200 (3)- OFD1

Orolaryngeal cancer, multiple, (3)- CDKN2A

Orthostatic intolerance, 604715 (3)- SLC6A2

Osseous heteroplasia, progressive, 166350 (3)- GNAS

Osteoarthritis with mild chondrodysplasia, 604864 (3)- COL2A1

Osteoarthritis-5, 612400 (3)- GDF5

Osteofibrous dysplasia, susceptibility to, 607278 (3)- MET

Osteogenesis imperfecta, type I, 166200 (3)- COL1A1

Osteogenesis imperfecta, type II, 166210 (3)- COL1A1

Osteogenesis imperfecta, type II, 166210 (3)- COL1A2

Osteogenesis imperfecta, type III, 259420 (3)- COL1A1

Osteogenesis imperfecta, type III, 259420 (3)- COL1A2

Osteogenesis imperfecta, type IV, 166220 (3)- COL1A1

Osteogenesis imperfecta, type IV, 166220 (3)- COL1A2

Osteogenesis imperfecta, type XI, 610968 (3)- FKBP10

Osteoglophonic dysplasia, 166250 (3)- FGFR1

Osteopetrosis, autosomal dominant 1, 607634 (3)- LRP5

Osteoporosis, 166710 (3)- LRP5

Osteoporosis, postmenopausal, 166710 (3)- COL1A2

Osteoporosis-pseudoglioma syndrome, 259770 (3)- LRP5

Osteosarcoma, 259500 (3)- TP53

Osteosarcoma, somatic, 259500 (3)- CHEK2

Osteosarcoma, somatic, 259500 (3)- RB1

Osteosclerosis, 144750 (3)- LRP5

Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840 (3)- COL11A2

Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150 (3)- COL11A2

Ovarian cancer, somatic, (3)- ERBB2

Ovarian cancer, somatic, 167000 (3)- AKT1

Ovarian cancer, somatic, 167000 (3)- CTNNB1

Ovarian cancer, somatic, 167000 (3)- PIK3CA

Ovarian carcinoma, somatic, 167000 (3)- CDH1

Ovarian dysgenesis 1, 233300 (3)- FSHR

Ovarian dysgenesis 2, 300510 (3)- BMP15

Ovarian dysgenesis 3, 614324 (3)- PSMC3IP

Ovarian hyperstimulation syndrome, 608115 (3)- FSHR

Ovarian response to FSH stimulation, 276400 (3)- FSHR

P

Paget disease of bone 3, 167250 (3)- SQSTM1

Palmoplantar hyperkeratosis and true hermaphroditism, 610644 (3)- RSPO1

Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644 (3)- RSPO1

Pancreatic agenesis 1, 260370 (3)- PDX1

Pancreatic agenesis 2, 615935 (3)- PTF1A

Pancreatic agenesis and congenital heart defects, 600001 (3)- GATA6

Pancreatic and cerebellar agenesis, 609069 (3)- PTF1A

Pancreatic cancer 2, 613347 (3)- BRCA2

Pancreatic cancer, 260350 (3)- STK11

Pancreatic cancer, 260350 (3)- TP53

Pancreatic cancer, somatic, 260350 (3)- SMAD4

Pancreatic cancer, susceptibility to, 1, 606856 (3)- PALLD

Pancreatic cancer, susceptibility to, 3, 613348 (3)- PALB2

Pancreatic cancer, susceptibility to, 4, 614320 (3)- BRCA1

Pancreatic cancer/melanoma syndrome, 606719 (3)- CDKN2A

Pancreatic carcinoma, somatic (3)- RBBP8

Pancreatic carcinoma, somatic, 260350 (3)- KRAS

Pancreatitis, hereditary, 167800 (3)- PRSS1

Pancreatitis, hereditary, 167800 (3)- SPINK1

Pancreatitis, idiopathic, 167800 (3)- CFTR

Panhypopituitarism, X-linked, 312000 (3)- SOX3

Papillorenal syndrome, 120330 (3)- PAX2

Paraganglioma and gastric stromal sarcoma, 606864 (3)- SDHB

Paraganglioma and gastric stromal sarcoma, 606864 (3)- SDHC

Paraganglioma and gastric stromal sarcoma, 606864 (3)- SDHD

Paragangliomas 1, with or without deafness, 168000 (3)- SDHD

Paragangliomas 2, 601650 (3)- SDHAF2

Paragangliomas 3, 605373 (3)- SDHC

Paragangliomas 4, 115310 (3)- SDHB

Paragangliomas 5, 614165 (3)- SDHA

Parathyroid adenoma with cystic changes, 145001 (3)- CDC73

Parathyroid adenoma, somatic (3)- MEN1

Parathyroid carcinoma, 608266 (3)- CDC73

Parkinson disease 1, 168601 (3)- SNCA

Parkinson disease 14, autosomal recessive, 612953 (3)- PLA2G6

Parkinson disease 15, autosomal recessive, 260300 (3)- FBXO7

Parkinson disease 4, 605543 (3)- SNCA

Parkinson disease 6, early onset, 605909 (3)- PINK1

Parkinson disease 8, 607060 (3)- LRRK2

Parkinson disease, late-onset, susceptibility to, 168600 (3)- ATXN2

Parkinson disease, late-onset, susceptibility to, 168600 (3)- GBA

Parkinson disease, susceptibility to, 168600 (3)- MAPT

Parkinson disease, susceptibility to, 168600 (3)- TBP

Paroxysmal extreme pain disorder, 167400, (3)- SCN9A

Pemphigoid, susceptibility to (2)- HLA-DRB1

Pendred syndrome, 274600 (3)- SLC26A4

Periodic fever, familial, 142680 (3)- TNFRSF1A

Peroxisome biogenesis disorder 10A (Zellweger), 614882 (3)- PEX3

Peroxisome biogenesis disorder 11A (Zellweger), 614883 (3)- PEX13

Peroxisome biogenesis disorder 11B, 614885 (3)- PEX13

Peroxisome biogenesis disorder 12A (Zellweger), 614886 (3)- PEX19

Peroxisome biogenesis disorder 13A (Zellweger), 614887 (3)- PEX14

Peroxisome biogenesis disorder 1A (Zellweger), 214100 (3)- PEX1

Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 (3)- PEX1

Peroxisome biogenesis disorder 2A (Zellweger), 214110 (3)- PEX5

Peroxisome biogenesis disorder 2B, 202370 (3)- PEX5

Peroxisome biogenesis disorder 5A (Zellweger), 614866 (3)- PEX2

Peroxisome biogenesis disorder 5B, 614867 (3)- PEX2

Peroxisome biogenesis disorder 6A (Zellweger), 614870 (3)- PEX10

Peroxisome biogenesis disorder 6B, 614871 (3)- PEX10

Peroxisome biogenesis disorder 7A (Zellweger), 614872 (3)- PEX26

Peroxisome biogenesis disorder 7B, 614873 (3)- PEX26

Peroxisome biogenesis disorder 9B, 614879 (3)- PEX7

Perrault syndrome 3, 614129 (3)- CLPP

Perrault syndrome 4, 615300 (3)- LARS2

Perrault syndrome 5, 616138 (3)- TWNK

Persistent Mullerian duct syndrome, type I, 261550 (3)- AMH

Persistent Mullerian duct syndrome, type II, 261550 (3)- AMHR2

Persistent truncus arteriosus, 217095 (3)- GATA6

Peters-plus syndrome, 261540 (3)- B3GLCT

Peutz-Jeghers syndrome, 175200 (3)- STK11

Pfeiffer syndrome, 101600 (3)- FGFR1

Pfeiffer syndrome, 101600 (3)- FGFR2

Phenylketonuria, 261600 (3)- PAH

Pheochromocytoma, 171300 (3)- RET

Pheochromocytoma, 171300 (3)- SDHB

Pheochromocytoma, 171300 (3)- SDHD

Pheochromocytoma, 171300 (3)- VHL

Pheochromocytoma, susceptibility to, 171300 (3)- MAX

Pheochromocytoma, susceptibility to, 171300 (3)- TMEM127

Phosphoglycerate dehydrogenase deficiency, 601815 (3)- PHGDH

Phosphoglycerate kinase 1 deficiency, 300653 (3)- PGK1

Phosphoribosylpyrophosphate synthetase superactivity, 300661 (3)- PRPS1

Pick disease, 172700 (3)- MAPT

Pick disease, 172700 (3)- PSEN1

Piebaldism, 172800 (3)- KIT

Pigmented nodular adrenocortical disease, primary, 1, 610489 (3)- PRKAR1A

Pigmented nodular adrenocortical disease, primary, 2, 610475 (3)- PDE11A

Pigmented nodular adrenocortical disease, primary, 3, 614190 (3)- PDE8B

Pigmented paravenous chorioretinal atrophy, 172870 (3)- CRB1

Pilomatricoma, somatic, 132600 (3)- CTNNB1

Pituitary adenoma, ACTH-secreting, 219090 (3)- AIP

Pituitary adenoma, growth hormone-secreting, 102200 (3)- AIP

Pituitary adenoma, prolactin-secreting, 600634 (3)- AIP

Pituitary hormone deficiency, combined, 1, 613038 (3)- POU1F1

Pituitary hormone deficiency, combined, 2, 262600 (3)- PROP1

Pituitary hormone deficiency, combined, 3, 221750 (3)- LHX3

Pituitary hormone deficiency, combined, 4, 262700 (3)- LHX4

Pituitary hormone deficiency, combined, 5, 182230 (3)- HESX1

Pituitary hormone deficiency, combined, 6, 613986 (3)- OTX2

Platelet disorder, familial, with associated myeloid malignancy, 601399 (3)- RUNX1

Platyspondylic skeletal dysplasia, Torrance type, 151210 (3)- COL2A1

Pleuropulmonary blastoma, 601200 (3)- DICER1

Pneumothorax, primary spontaneous, 173600 (3)- FLCN

Polycystic kidney disease 1, 173900 (3)- PKD1

Polycystic kidney disease 2, 613095 (3)- PKD2

Polycythemia vera, somatic, 263300 (3)- JAK2

Polyglucosan body disease, adult form, 263570 (3)- GBE1

Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 (3)- ABHD12

Polyposis syndrome, hereditary mixed, 2, 610069 (3)- BMPR1A

Polyposis, juvenile intestinal, 174900 (3)- BMPR1A

Polyposis, juvenile intestinal, 174900 (3)- SMAD4

Porencephaly 1, 175780 (3)- COL4A1

Porokeratosis 3, multiple types, 175900 (3)- MVK

Porphyria cutanea tarda, susceptibility to, 176100 (3)- HFE

Porphyria variegata, susceptibility to, 176200 (3)- HFE

Porphyria, acute intermittent, 176000 (3)- HMBS

Porphyria, acute intermittent, nonerythroid variant, 176000 (3)- HMBS

Prader-Willi syndrome, 176270 (3)- NDN

Prader-Willi syndrome, 176270 (3)- SNRPN

Precocious puberty, male, 176410 (3)- LHCGR

Preeclampsia, susceptibility to (3)- AGT

Preeclampsia/eclampsia 5, 614595 (3)- CORIN

Pregnancy loss, recurrent, 4, 270960 (3)- SYCP3

Pregnancy loss, recurrent, susceptibility to, 1, 614389 (3)- F5

Pregnancy loss, recurrent, susceptibility to, 2, 614390 (3)- F2

Premature aging syndrome, Penttinen type, 601812 (3)- PDGFRB

Premature ovarian failure 1, 311360 (3)- FMR1

Premature ovarian failure 3, 608996 (3)- FOXL2

Premature ovarian failure 4, 300510 (3)- BMP15

Premature ovarian failure 5, 611548 (3)- NOBOX

Premature ovarian failure 6, 612310 (3)- FIGLA

Premature ovarian failure 7, 612964 (3)- NR5A1

Primary aldosteronism, seizures, and neurologic abnormalities, 615474 (3)- CACNA1D

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283 (3)- SLC25A4

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286 (3)- TWNK

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 (3)- POLG2

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 (3)- RRM2B

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 (3)- DNA2

Progressive external ophthalmoplegia, autosomal dominant 1, 157640 (3)- POLG

Progressive external ophthalmoplegia, autosomal recessive 1, 258450 (3)- POLG

Prostate cancer 1, 601518 (3)- RNASEL

Prostate cancer, 176807 (3)- BRCA2

Prostate cancer, familial, susceptibility to, 176807 (3)- CHEK2

Prostate cancer, hereditary, 176807 (3)- MSR1

Prostate cancer, hereditary, 2, susceptibility to, 614731 (3)- ELAC2

Prostate cancer, somatic, 176807 (3)- PTEN

Prostate cancer, susceptibility to, 176807 (3)- AR

Prostate cancer, susceptibility to, 176807 (3)- CDH1

Proteus syndrome, somatic, 176920 (3)- AKT1

Pseudohermaphroditism, male, with gynecomastia, 264300 (3)- HSD17B3

Pseudohypoaldosteronism type I, autosomal dominant, 177735 (3)- NR3C2

Pseudohypoaldosteronism, type IID, 614495 (3)- KLHL3

Pseudohypoaldosteronism, type IIE, 614496 (3)- CUL3

Pseudohypoparathyroidism Ia, 103580 (3)- GNAS

Pseudohypoparathyroidism Ib, 603233 (3)- GNAS

Pseudohypoparathyroidism Ic, 612462 (3)- GNAS

Pseudohypoparathyroidism, type IB, 603233 (3)- STX16

Pseudopseudohypoparathyroidism, 612463 (3)- GNAS

Pseudovaginal perineoscrotal hypospadias, 264600 (3)- SRD5A2

Pseudoxanthoma elasticum, 264800 (3)- ABCC6

Pseudoxanthoma elasticum, forme fruste, 177850 (3)- ABCC6

Psoriasis susceptibility 1, 177900 (3)- HLA-C

PTEN hamartoma tumor syndrome (3)- PTEN

Pulmonary disease, chronic obstructive, susceptibility to, 606963 (1)- SERPINA1

Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, 614742 (3)- TERT

Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260 (3)- MYD88

Q

No results found.

R

Rabson-Mendenhall syndrome, 262190 (3)- INSR

Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738 (3)- MECOM

RAPADILINO syndrome, 266280 (3)- RECQL4

RAS-associated autoimmune leukoproliferative disorder, 614470 (3)- KRAS

Refsum disease, 266500 (3)- PHYH

Renal carcinoma, chromophobe, somatic, 144700 (3)- FLCN

Renal cell carcinoma, 144700 (3)- HNF1A

Renal cell carcinoma, 144700 (3)- RNF139

Renal cell carcinoma, 144700 (3)- HNF1B

Renal cell carcinoma, papillary, 1, familial and somatic, 605074 (3)- MET

Renal cell carcinoma, somatic, 144700 (3)- VHL

Renal cysts and diabetes syndrome, 137920 (3)- HNF1B

Renal tubular dysgenesis, 267430 (3)- ACE

Renal tubular dysgenesis, 267430 (3)- AGT

Renal tubular dysgenesis, 267430 (3)- AGTR1

Renal-hepatic-pancreatic dysplasia 1, 208540 (3)- NPHP3

Restrictive dermopathy, lethal, 275210 (3)- LMNA

Restrictive dermopathy, lethal, 275210 (3)- ZMPSTE24

Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, 614224 (3)- IGFBP7

Retinal cone dystrophy 3, 610024 (3)- PDE6H

Retinal cone dystrophy 3B, 610356 (3)- KCNV2

Retinal cone dystrophy 4, 610478 (3)- CACNA2D4

Retinal degeneration, autosomal recessive, clumped pigment type (3)- NRL

Retinal degeneration, late-onset, autosomal dominant, 605670 (3)- C1QTNF5

Retinal disease in Usher syndrome type IIA, modifier of, 276901 (3)- PDZD7

Retinal dystrophy with macular staphyloma, 617547 (3)- C21orf2

Retinal dystrophy, early-onset severe, 248200 (3)- ABCA4

Retinal dystrophy, early-onset severe, 613341 (3)- LRAT

Retinal dystrophy, early-onset, with or without pituitary dysfunction, 610125 (3)- OTX2

Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147 (3)- RBP4

Retinitis pigmentosa 1, 180100 (3)- RP1

Retinitis pigmentosa 10, 180105 (3)- IMPDH1

Retinitis pigmentosa 11, 600138 (3)- PRPF31

Retinitis pigmentosa 13, 600059 (3)- PRPF8

Retinitis pigmentosa 14, 600132 (3)- TULP1

Retinitis pigmentosa 17, 600852 (3)- CA4

Retinitis pigmentosa 18, 601414 (3)- PRPF3

Retinitis pigmentosa 19, 601718 (3)- ABCA4

Retinitis pigmentosa 2, 312600 (3)- RP2

Retinitis pigmentosa 20, 613794 (3)- RPE65

Retinitis pigmentosa 25, 602772 (3)- EYS

Retinitis pigmentosa 26, 608380 (3)- CERKL

Retinitis pigmentosa 27, 613750 (3)- NRL

Retinitis pigmentosa 28, 606068 (3)- FAM161A

Retinitis pigmentosa 3, 300029 (3)- RPGR

Retinitis pigmentosa 30, 607921 (3)- FSCN2

Retinitis pigmentosa 31, 609923 (3)- TOPORS

Retinitis pigmentosa 33, 610359 (3)- SNRNP200

Retinitis pigmentosa 35, 610282 (3)- SEMA4A

Retinitis pigmentosa 36, 610599 (3)- PRCD

Retinitis pigmentosa 37, 611131 (3)- NR2E3

Retinitis pigmentosa 38, 613862 (3)- MERTK

Retinitis pigmentosa 39, 613809 (3)- USH2A

Retinitis pigmentosa 4, autosomal dominant or recessive, 613731 (3)- RHO

Retinitis pigmentosa 41, 612095 (3)- PROM1

Retinitis pigmentosa 42, 612943 (3)- KLHL7

Retinitis pigmentosa 43, 613810 (3)- PDE6A

Retinitis pigmentosa 44, 613769 (3)- RGR

Retinitis pigmentosa 45, 613767 (3)- CNGB1

Retinitis pigmentosa 46, 612572 (3)- IDH3B

Retinitis pigmentosa 47, 613758 (3)- SAG

Retinitis pigmentosa 48, 613827 (3)- GUCA1B

Retinitis pigmentosa 49, 613756 (3)- CNGA1

Retinitis pigmentosa 54, 613428 (3)- C2orf71

Retinitis pigmentosa 56, 613581 (3)- IMPG2

Retinitis pigmentosa 57, 613582 (3)- PDE6G

Retinitis pigmentosa 59, 613861 (3)- DHDDS

Retinitis pigmentosa 60, 613983 (3)- PRPF6

Retinitis pigmentosa 61, 614180 (3)- CLRN1

Retinitis pigmentosa 62, 614181 (3)- MAK

Retinitis pigmentosa 64, 614500 (3)- C8orf37

Retinitis pigmentosa 65, 613660 (3)- CDHR1

Retinitis pigmentosa 7 and digenic, 608133 (3)- PRPH2

Retinitis pigmentosa 7, digenic, 608133 (3)- ROM1

Retinitis pigmentosa 74, 616562 (3)- BBS2

Retinitis pigmentosa, concentric, 613194 (3)- BEST1

Retinitis pigmentosa, juvenile, 604393 (3)- AIPL1

Retinitis pigmentosa, juvenile, 613341 (3)- LRAT

Retinitis pigmentosa, juvenile, autosomal recessive, 604232 (3)- SPATA7

Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 (3)- RPGR

Retinitis pigmentosa-12, autosomal recessive, 600105 (3)- CRB1

Retinitis pigmentosa-40, 613801 (3)- PDE6B

Retinitis pigmentosa-50, 613194 (3)- BEST1

Retinitis punctata albescens, 136880 (3)- PRPH2

Retinitis punctata albescens, 136880 (3)- RHO

Retinitis punctata albescens, 136880 (3)- RLBP1

Retinoblastoma, 180200 (3)- RB1

Retinoblastoma, trilateral, 180200 (3)- RB1

Retinopathy of prematurity, 133780 (3)- FZD4

Retinoschisis, 312700 (3)- RS1

Rett syndrome, 312750 (3)- MECP2

Rett syndrome, atypical, 312750 (3)- MECP2

Rett syndrome, congenital variant, 613454 (3)- FOXG1

Rett syndrome, preserved speech variant, 312750 (3)- MECP2

Rhabdoid predisposition syndrome 1, 609322 (3)- SMARCB1

Rhabdoid tumors, somatic, 609322 (3)- SMARCB1

Rhabdomyosarcoma 2, alveolar, 268220 (3)- PAX3

Rhabdomyosarcoma, embryonal, 2, 180295 (3)- DICER1

Rheumatoid arthritis, susceptibility to, 180300 (3)- HLA-DRB1

Rhizomelic chondrodysplasia punctata, type 1, 215100 (3)- PEX7

Rhizomelic chondrodysplasia punctata, type 5, 616716 (3)- PEX5

Rickets due to defect in vitamin D 25-hydroxylation, 600081 (3)- CYP2R1

Rickets, vitamin D-resistant, type IIA, 277440 (3)- VDR

RIDDLE syndrome, 611943 (3)- RNF168

Ring dermoid of cornea, 180550 (3)- PITX2

Rippling muscle disease, 606072 (3)- CAV3

Robinow syndrome, autosomal recessive, 268310 (3)- ROR2

Robinow-Sorauf syndrome, 180750 (3)- TWIST1

Rothmund-Thomson syndrome, 268400 (3)- RECQL4

Roussy-Levy syndrome, 180800 (3)- MPZ

Roussy-Levy syndrome, 180800 (3)- PMP22

S

SADDAN, 616482 (3)- FGFR3

Saethre-Chotzen syndrome with eyelid anomalies, 101400 (3)- TWIST1

Saethre-Chotzen syndrome, 101400 (3)- FGFR2

Saethre-Chotzen syndrome, 101400 (3)- TWIST1

Sarcoidosis, susceptibility to, 1, 181000 (3)- HLA-DRB1

Sarcoma, synovial (1)- SS18

SARS, progression of (3)- ACE

Scaphocephaly and Axenfeld-Rieger anomaly (3)- FGFR2

Scaphocephaly, maxillary retrusion, and mental retardation, 609579 (3)- FGFR2

Scapuloperoneal syndrome, myopathic type, 181430 (3)- MYH7

Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 (3)- DES

Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)- HRAS

Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)- KRAS

Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)- NRAS

Schinzel-Giedion midface retraction syndrome, 269150 (3)- SETBP1

Schizophrenia, susceptibility to, 181500 (2)- AKT1

Schizophrenia, susceptibility to, 181500 (3)- MTHFR

Schwannomatosis, 162091 (3)- NF2

Schwannomatosis-1, susceptibility to, 162091 (3)- SMARCB1

SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)- JAK3

Sclerosteosis 2, 614305 (3)- LRP4

Sea-blue histiocyte disease, 269600 (3)- APOE

Sebastian syndrome, 605249 (3)- MYH9

Seckel syndrome 1, 210600 (3)- ATR

Seckel syndrome 2, 606744 (3)- RBBP8

SED congenita, 183900 (3)- COL2A1

Seizures, cortical blindness, microcephaly syndrome, 616632 (3)- DIAPH1

Sengers syndrome, 212350 (3)- AGK

Senior-Loken syndrome 4, 606996 (3)- NPHP4

Senior-Loken syndrome 5, 609254 (3)- IQCB1

Senior-Loken syndrome 6, 610189 (3)- CEP290

Senior-Loken syndrome 7, 613615 (3)- SDCCAG8

Senior-Loken syndrome 8, 616307 (3)- WDR19

Senior-Loken syndrome-1, 266900 (3)- NPHP1

Septooptic dysplasia, 182230 (3)- HESX1

Severe combined immunodeficiency due to ADA deficiency, 102700 (3)- ADA

Severe combined immunodeficiency, Athabascan type, 602450 (3)- DCLRE1C

Severe combined immunodeficiency, B cell-negative, 601457 (3)- RAG1

Severe combined immunodeficiency, B cell-negative, 601457 (3)- RAG2

Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)- IL7R

Severe combined immunodeficiency, X-linked, 300400 (3)- IL2RG

Short QT syndrome 1, 609620 (3)- KCNH2

Short QT syndrome 2, 609621 (3)- KCNQ1

Short QT syndrome 3, 609622 (3)- KCNJ2

Short stature with microcephaly and distinctive facies, 615789 (3)- CRIPT

Short stature, idiopathic familial, 300582 (3)- SHOX

Short stature, microcephaly, and endocrine dysfunction, 616541 (3)- XRCC4

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 (3)- POC1A

Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3)- NBAS

Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3)- IFT140

Shwachman-Diamond syndrome, 260400 (3)- SBDS

Sialuria, 269921 (3)- GNE

Sick sinus syndrome 1, 608567 (3)- SCN5A

Sick sinus syndrome 2, 163800 (3)- HCN4

Sick sinus syndrome 3, 614090 (3)- MYH6

Sickle cell anemia, 603903 (3)- HBB

Simpson-Golabi-Behmel syndrome, type 1, 312870 (3)- GPC3

Simpson-Golabi-Behmel syndrome, type 2, 300209 (3)- OFD1

Sinoatrial node dysfunction and deafness, 614896 (3)- CACNA1D

Sitosterolemia, 210250 (3)- ABCG5

Sitosterolemia, 210250 (3)- ABCG8

Skeletal defects, genital hypoplasia, and mental retardation, 612447 (3)- ZBTB16

Skin fragility-woolly hair syndrome, 607655 (3)- DSP

Small cell cancer of the lung, somatic, 182280 (3)- RB1

Small fiber neuropathy, 133020 (3)- SCN9A

SMED Strudwick type, 184250 (3)- COL2A1

Smith-Lemli-Opitz syndrome, 270400 (3)- DHCR7

Smith-Magenis syndrome, 182290 (3)- RAI1

Snowflake vitreoretinal degeneration, 193230 (3)- KCNJ13

Somatostatin analog, resistance to (3)- SSTR5

Sorsby fundus dystrophy, 136900 (3)- TIMP3

Sotos syndrome 1, 117550 (3)- NSD1

Spastic paraplegia 3A, autosomal dominant, 182600 (3)- ATL1

Spastic paraplegia 9A, autosomal dominant, 601162 (3)- ALDH18A1

Spastic paraplegia 9B, autosomal recessive, 616586 (3)- ALDH18A1

Spermatocytic seminoma, somatic, 273300 (3)- FGFR3

Spermatogenic failure 11, 615081 (3)- KLHL10

Spermatogenic failure 12, 615413 (3)- NANOS1

Spermatogenic failure 4, 270960 (3)- SYCP3

Spermatogenic failure 5, 243060 (3)- AURKC

Spermatogenic failure 7, 612997 (3)- CATSPER1

Spermatogenic failure 8, 613957 (3)- NR5A1

Spermatogenic failure 9, 613958 (3)- DPY19L2

Spermatogenic failure, Y-linked, 2, 415000 (3)- USP9Y

Spinal and bulbar muscular atrophy of Kennedy, 313200 (3)- AR

Spinal muscular atrophy, distal, X-linked 3, 300489 (3)- ATP7A

Spinal muscular atrophy-1, 253300 (3)- SMN1

Spinal muscular atrophy-2, 253550 (3)- SMN1

Spinal muscular atrophy-3, 253400 (3)- SMN1

Spinal muscular atrophy-4, 271150 (3)- SMN1

Spinocerebellar ataxia 1, 164400 (3)- ATXN1

Spinocerebellar ataxia 12, 604326 (3)- PPP2R2B

Spinocerebellar ataxia 17, 607136 (3)- TBP

Spinocerebellar ataxia 2, 183090 (3)- ATXN2

Spinocerebellar ataxia 34, 133190 (3)- ELOVL4

Spinocerebellar ataxia 6, 183086 (3)- CACNA1A

Spinocerebellar ataxia 7, 164500 (3)- ATXN7

Spinocerebellar ataxia, autosomal recessive 1, 606002 (3)- SETX

Spitz nevus or nevus spilus, somatic, 137550 (3)- HRAS

Spondyloarthropathy, susceptibility to, 1, 106300 (3)- HLA-B

Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3)- COL2A1

Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3)- DDR2

Spondylometaphyseal dysplasia, axial, 601171 (3)- C21orf2

Spondyloperipheral dysplasia, 271700 (3)- COL2A1

Squamous cell carcinoma, burn scar-related, somatic (3)- FAS

Squamous cell carcinoma, head and neck, somatic, 275355 (3)- PTEN

Stargardt disease 1, 248200 (3)- ABCA4

Stargardt disease 3, 600110 (3)- ELOVL4

Stargardt disease 4, 603786 (3)- PROM1

Stevens-Johnson syndrome, susceptibility to, 608579 (3)- HLA-B

Stickler sydrome, type I, nonsyndromic ocular, 609508 (3)- COL2A1

Stickler syndrome, type I, 108300 (3)- COL2A1

Stickler syndrome, type II, 604841 (3)- COL11A1

Stickler syndrome, type IV, 614134 (3)- COL9A1

Stiff skin syndrome, 184900 (3)- FBN1

Striatal degeneration, autosomal dominant, 609161 (3)- PDE8B

Stroke, hemorrhagic, 614519 (3)- ACE

Stroke, ischemic, susceptibility to, 601367 (3)- F2

Stroke, ischemic, susceptibility to, 601367 (3)- F5

Sturge-Weber syndrome, somatic, mosaic, 185300 (3)- GNAQ

Subcortical laminal heteropia, X-linked, 300067 (3)- DCX

Subcortical laminar heterotopia, 607432 (3)- PAFAH1B1

Sudden infant death syndrome, susceptibility to, 272120 (3)- SCN5A

Supranuclear palsy, progressive atypical, 260540 (3)- MAPT

Supranuclear palsy, progressive, 601104 (3)- MAPT

Supravalvar aortic stenosis, 185500 (3)- ELN

Sveinsson chorioretinal atrophy, 108985 (3)- TEAD1

Sweat chloride elevation without CF (3)- CFTR

Symphalangism, proximal, 1B, 615298 (3)- GDF5

Synovitis, chronic, susceptibility to (3)- HLA-B

Systemic lupus erythematosus, susceptibility to, 152700 (3)- CTLA4

Systemic lupus erythematosus, susceptibility to, 152700 (3)- TREX1

T

Tangier disease, 205400 (3)- ABCA1

Tay-Sachs disease, 272800 (3)- HEXA

T-cell prolymphocytic leukemia, somatic (3)- ATM

Telangiectasia, hereditary hemorrhagic, type 1, 187300 (3)- ENG

Temtamy syndrome, 218340 (3)- C12orf57

Testicular tumor, somatic, 273300 (3)- STK11

Tetralogy of Fallot, 187500 (3)- GATA4

Tetralogy of Fallot, 187500 (3)- GATA6

Tetralogy of Fallot, 187500 (3)- JAG1

Tetralogy of Fallot, 187500 (3)- NKX2-5

Thalassemia due to Hb Lepore (3)- HBD

Thalassemia, alpha-, 604131 (3)- HBA2

Thalassemia, delta- (3)- HBD

Thalassemia-beta, dominant inclusion-body, 603902 (3)- HBB

Thalassemias, beta-, 613985 (3)- HBB

Thanatophoric dysplasia, type I, 187600 (3)- FGFR3

Thanatophoric dysplasia, type II, 187601 (3)- FGFR3

Thiopurines, poor metabolism of, 1, 610460 (3)- TPMT

Thrombocythemia 2, 601977 (3)- MPL

Thrombocythemia 3, 614521 (3)- JAK2

Thrombocythemia, somatic, 187950 (3)- CALR

Thrombocythemia, somatic, 187950 (3)- SH2B3

Thrombocytopenia 5, 616216 (3)- ETV6

Thrombocytopenia, congenital amegakaryocytic, 604498 (3)- MPL

Thrombocytopenia, X-linked, 313900 (3)- WAS

Thrombocytopenia, X-linked, intermittent, 313900 (3)- WAS

Thromboembolism, susceptibility to, 188050 (3)- MTHFR

Thrombophilia due to activated protein C resistance, 188055 (3)- F5

Thrombophilia due to thrombin defect, 188050 (3)- F2

Thrombophilia, susceptibility to, due to factor V Leiden, 188055 (3)- F5

Thrombophilia, X-linked, due to factor IX defect, 300807 (3)- F9

Thyroid adenoma, hyperfunctioning, somatic (3)- TSHR

Thyroid cancer, monmedullary, 1, 188550 (3)- NKX2-1

Thyroid cancer, nonmedullary, 4, 616534 (3)- FOXE1

Thyroid carcinoma with thyrotoxicosis (3)- TSHR

Thyroid carcinoma, follicular, 188470 (3)- MINPP1

Thyroid carcinoma, follicular, somatic, 188470 (3)- NRAS

Thyroid carcinoma, follicular, somatic, 188470 (3)- HRAS

Thyroid dyshormonogenesis 1, 274400 (3)- SLC5A5

Thyroid dyshormonogenesis 2A, 274500 (3)- TPO

Thyroid dyshormonogenesis 3, 274700 (3)- TG

Thyroid dyshormonogenesis 4, 274800 (3)- IYD

Thyroid dyshormonogenesis 5, 274900 (3)- DUOXA2

Thyroid dyshormonogenesis 6, 607200 (3)- DUOX2

Thyroid hormone metabolism, abnormal, 609698 (3)- SECISBP2

Thyroid hormone resistance, 188570 (3)- THRB

Thyroid hormone resistance, autosomal recessive, 274300 (3)- THRB

Thyroid hormone resistance, selective pituitary, 145650 (3)- THRB

Thyrotoxic periodic paralysis, susceptibility to, 1, 188580 (3)- CACNA1S

Thyrotoxic periodic paralysis, susceptibility to, 2, 613239 (3)- KCNJ18

Thyrotropin-releasing hormone deficiency, 275120 (1)- TRH

Thyrotropin-releasing hormone resistance, generalized (3)- TRHR

Tietz albinism-deafness syndrome, 103500 (3)- MITF

Timothy syndrome, 601005 (3)- CACNA1C

Toenail dystrophy, isolated, 607523 (3)- COL7A1

Toxic epidermal necrolysis, susceptibility to, 608579 (3)- HLA-B

Transient bullous of the newborn, 131705 (3)- COL7A1

Treacher Collins syndrome 1, 154500 (3)- TCOF1

Tremor, hereditary essential, 4, 614782 (3)- FUS

Trichoepithelioma, multiple familial, 1, 601606 (3)- CYLD

Trichothiodystrophy 1, photosensitive, 601675 (3)- ERCC2

Trichothiodystrophy 2, photosensitive, 616390 (3)- ERCC3

Trigonocephaly 1, 190440 (3)- FGFR1

Trimethylaminuria, 602079 (3)- FMO3

Trismus-pseudocamptodactyly syndrome, 158300 (3)- MYH8

Tropical calcific pancreatitis, 608189 (3)- SPINK1

Trypsinogen deficiency, 614044 (1)- PRSS1

Tuberculosis infection, protection against, 607948 (3)- IFNGR1

Tuberculosis, susceptibility to, 607948 (3)- IFNGR1

Tuberous sclerosis-1, 191100 (3)- TSC1

Tuberous sclerosis-2, 613254 (3)- TSC2

Tumor predisposition syndrome, 614327 (3)- BAP1

Tumoral calcinosis, familial, normophosphatemic, 610455 (3)- SAMD9

Tylosis with esophageal cancer, 148500 (3)- RHBDF2

U

V

W

X

Y

No results found.

Z

No results found.