17,20-lyase deficiency (CYP17A1) |
1 |
17-Beta-Hydroxysteroid Dehydrogenase X Deficiency (HSD17B10) |
1 |
17-Hydroxylase Deficiency (CYP17A1) |
1 |
2-aminoadipic 2-oxoadipic aciduria (DHTKD1) |
1 |
2-methylbutyrylglycinuria (ACADSB) |
1 |
3-methylglutaconic aciduria type I (AUH) |
1 |
3-methylglutaconic aciduria type III (OPA3) |
1 |
3-methylglutaconic aciduria type V (DNAJC19) |
1 |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (SERAC1) |
1 |
3MC Syndrome 1 (MASP1) |
1 |
3MC Syndrome 2 (COLEC11) |
1 |
3q21q26 Syndrome (MECOM) |
1 |
46XY complete gonadal dysgenesis (CBX2, SRY) |
2 |
46XY gonadal dysgenesis, complete or partial, with or without adrenal failure |
4 |
46XY partial gonadal dysgenesis, with minifascicular neuropathy |
1 |
5-alpha reductase deficiency (SRD5A2, SRD5A3) |
2 |
5-fluorouracil toxicity (DPYD) |
1 |
5-oxoprolinase deficiency (OPLAH) |
1 |
Aarskog-Scott syndrome (FGD1) |
1 |
Abetalipoproteinemia (MTTP) |
1 |
Abnormal mineralization panel (ALPL, ANKH, AP2S1, CASR, CLCN5, CYP27B1, CYP2R1, DMP1, ENPP1, FGF23, GNA11, PHEX, PTH1R, SLC34A1, SLC34A3, SLC9A3R1, VDR) |
17 |
Abruptio placentae (MTHFD1) |
1 |
Absence of the vas deferens, congenital (CFTR) |
1 |
Acampomelic campomelic dysplasia (SOX9) |
1 |
Acatalasemia (CAT) |
1 |
Achondrogenesis (COL2A1, SLC26A2, TRIP11) |
3 |
Achondroplasia (FGFR3) |
1 |
Achromatopsia (CNGA3, CNGB3, GNAT2, PDE6H) |
4 |
Acrocallosal Syndrome (KIF7) |
1 |
Acrodysostosis (PDE4D, PRKAR1A) |
2 |
Acrokeratosis verruciformis (ATP2A2) |
1 |
Acyl-CoA dehydrogenase-9 deficiency (ACAD9, ACADM, ACADS, ACADVL, ACAD8) |
5 |
Acyl-CoA peroxisomal oxidase deficiency (ACOX1) |
1 |
Adams-Oliver Syndrome (ARHGAP31, EOGT, NOTCH1, RBPJ) |
4 |
Adams-Oliver Syndrome (ARHGAP31, EOGT, NOTCH1, RBPJ) |
4 |
Adenocarcinoma of lung (BRAF, EGFR, ERBB2, PARK2) |
4 |
Adenoma (APC, MUTYH, PLAG1) |
3 |
Adrenoleukodystrophy (ALD) |
8 |
Afibrinogenemia (FGA, FGB, FGG) |
3 |
Agammaglobulinemia (BTK, IGHM, CD79A, CD79B, IGLL1, BLNK, LRRC8A, PIK3R1, TCF3) |
9 |
Aicardi-Goutieres Syndrome 1 (TREX1) |
1 |
Aicardi-Goutieres Syndrome 2 (RNASEH2B) |
1 |
Aicardi-Goutieres Syndrome 3 (RNASEH2C) |
1 |
Aicardi-Goutieres Syndrome 4 (RNASEH2A) |
1 |
Aicardi-Goutieres Syndrome 5 (SAMHD1) |
1 |
Aicardi-Goutieres Syndrome 6 (ADAR) |
1 |
Aicardi-Goutieres Syndrome 7 (IFIH1) |
1 |
Al-Raqad Syndrome (DCPS) |
1 |
Albinism (AP3B1, BLOC1S3, BLOC1S6, C10ORF11, DTNBP1, EDN3, EDNRB, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, KIT, LYST, MC1R, MITF, MLPH, MYO5A, OCA2, PAX3, RAB27A, SLC24A5, SLC45A2, SNAI2, SOX10, TYR, TYRP1) |
28 |
Alexander Disease (GFAP) |
1 |
Alkaptonuria (HGD) |
1 |
Allergic Rhinitis (IL13) |
1 |
Alopecia universalis (HR) |
1 |
Alpha/Beta T-cell lymphopenia (RAG1) |
1 |
Alport Syndrome (COL4A3, COL4A4, COL4A5) |
3 |
Alport syndrome with diffuse leiomyomatosis (COL4A5, COL4A6) |
2 |
Alstrom Syndrome (ALMS1) |
1 |
Alzheimer dementia and dementia (APOE, APP, PRNP, PSEN1, PSEN2, SORL1, TREM2) |
7 |
Amelogenesis Imperfecta (AMBN, AMELX, C4ORF26, DLX3, ENAM, FAM20A, FAM83H, ITGB6, KLK4, LAMB3, MMP20, SLC24A4, WDR72) |
13 |
Amelogenesis imperfecta, hypomaturation type, IIA3 |
1 |
Amelotenin Deficiency (AMTN) |
1 |
Aminoacylase 1 deficiency (ACY1) |
1 |
Amyloidosis (APOA1, FGA, GSN, IL31RA, LYZ, OSMR, TTR) |
7 |
Amyotrophic lateral sclerosis (ALS2, ANG, ATXN2, C9orf72, CHMP2B, CHGB, DCTN1, FIG4, FUS, NEFH, OPTN, PFN1, PRPH2, SETX, SIGMAR1, SOD1, SPG20, TARDBP, UBQLN2, VAPB, VCP, VEGFA, VPS54) |
23 |
Analbuminemia (ALB) |
1 |
Andersen Syndrome (KCNJ2) |
1 |
Androgen insensitivity syndrome (AR) |
1 |
Androgen insensitivity, partial, with or without breast cancer (AR) |
1 |
Anemia (ABCB7, ALAS2, GATA1, NT5C3A, RHAG, SLC11A2, SLC25A38, SPTB) |
8 |
Aortic aneurysm, hereditary thoracic (MYH11, ACTA2, TGFBR1, TGFBR2, FBN1, COL3A1, SMAD3, CBS, FBN2, SLC2A10, MYLK, TGFB2, TGFB3) |
13 |
Arginosuccinate Lyase deficiency (ASL) |
1 |
Aromatase deficiency (CYP19A1) |
1 |
Arrhythmia, hereditary (AKAP9, ANK2, CACNA1C, CACNB2, CASQ2, CAV3, DSC2, DSG2, DSP, GPD1L, JUP, KCNA5, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, NPPA, PKP2, PLN, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SNTA1, TGFB3, TMEM43) |
29 |
Arrhythmogenic right ventricular cardiomyopathy (DSP, DSG2, DSC2, JUP, PKP2, RYR2, TGFB3, TMEM43) |
8 |
Arthrogryposis (TPM2, MYBPC1, MYH3, TNNT3, TNNI2, MYH8, FBN2, PIEZO2, ECEL1, DOK7, RAPSN) |
11 |
Asperger syndrome susceptibility X-linked type 2 (NLGN3) |
|
Ataxia and muscle hypotonia (COX20) |
1 |
Atopy (CYSLTR1, CYSLTR2, F2RL1, IL12RB2, IL4R, MS4A2, PGM3, PLA2G7, SART1, SELP, SPINK5) |
11 |
Atrichia with papular lesions (HR) |
1 |
Atypical hemolytic uremic syndrome (ADAMTS13, C3, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, DGKE, PIGA, THBD) |
14 |
Autism spectrum disorders (AHNAK2, ANKS3, BPIFA3, EN2, GRM7, MECP2, MYO16, MXRA5, NLGN3, NLGN4X, PDE8B, RABGGTA, RPL10) |
13 |
Autoimmune lymphoproliferative syndrome (CASP10, FAS, FASLG, LRBA, TRADD, UNC13D, PRKCD, CTLA4) |
8 |
Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia (AIRE) |
1 |
Axenfeld-Rieger Syndrome (FOXC1, PITX2) |
2 |
Azoospermia (AR, AURKC, AZF1, CAMK4, CFTR, DAZ2, DMRT1, DPP6, DPY19L2, E2F1, FKBP6, FKBPL,FSHB, H2BFWT, HORMAD1, HSF2, HSPA2, KLHL10, NANOS1, NR0B1, NR5A1, SEPT12, SLC26A8, SYCE1, SYCP3, TEX11, USP9Y) |
27 |
Azoospermia due to perturbations of meiosis (SYCP3) |
1 |
Bamforth-Lazarus syndrome (FOXE1) |
1 |
Bardet- Biedl Syndrome 15 (WDPCP) |
1 |
Bardet-Biedl Syndrome (CEP290) |
1 |
Bardet-Biedl Syndrome 1 (BBS1) |
1 |
Bardet-Biedl Syndrome 10 (BBS10) |
1 |
Bardet-Biedl Syndrome 11 (TRIM32) |
1 |
Bardet-Biedl Syndrome 12 (BBS12) |
1 |
Bardet-Biedl Syndrome 13 (MKS1) |
1 |
Bardet-Biedl Syndrome 2 (BBS2) |
1 |
Bardet-Biedl Syndrome 3 (ARL6) |
1 |
Bardet-Biedl Syndrome 4 (BBS4) |
1 |
Bardet-Biedl Syndrome 5 (BBS5) |
1 |
Bardet-Biedl Syndrome 6 (MKKS) |
1 |
Bardet-Biedl Syndrome 7 (BBS7) |
1 |
Bardet-Biedl Syndrome 8 (TTC8) |
1 |
Bardet-Biedl Syndrome 9 (BBS9) |
1 |
Barth Syndrome (TAZ) |
1 |
Bartter Syndrome (ATP6V1B1, BSND, CA2, CASR, CLCNKA, CLCNKB, CLDN16, CLDN19, FXYD2, HSD11B2, KCNJ1, KCNJ10, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, SLC12A1, SLC12A2, SLC12A3, SLC4A1, SLC4A4, WNK1, WNK4) |
24 |
Beta-Ketothiolase deficiency (ACAT1) |
1 |
Bethlem myopathy (COL6A1, COL6A2, COL6A3, COL12A1) |
4 |
Bifid nose with or without anorectal and renal anomalies |
1 |
Biotinidase Deficiency (BTD) |
1 |
Blau syndrome (NOD2) |
1 |
Brain iron accumulation syndromes (ATP13A2, C19orf12, COASY, CP, DCAF17, FA2H, FTL, PANK2, PLA2G6, SCP2, WDR45) |
11 |
Brugada syndrome (CACNA1C, CACNB2, GPD1L, HCN4, KCNE3, SCN1B, SCN3B, SCN5A, SLMAP) |
9 |
Budd-Chiari syndrome (F5) |
1 |
Candidiasis, familial chronic mucocutaneous (CANDF1, CARD9, STAT1, CLEC7A, TRAF3IP2, IL17F, IL17RA) |
7 |
Carnitine Deficiency (SLC22A5) |
1 |
Cervical stenosis (FGFR3, ARSB) |
2 |
Chloride diarrhea, congenital, Finnish type (SLC26A3, SLC9A3) |
2 |
Cholestasis, benign recurrent intrahepatic, type 1 (ATP8B1) |
1 |
Cholestasis, benign recurrent intrahepatic, type 2 |
1 |
Cholestasis, progressive familial intrahepatic |
5 |
Choroideremia (CHM) |
1 |
Chronic granulomatous disease (CYBA, CYBB, NCF1, NCF2, NCF4, XK) |
6 |
Chronic hepatitis (AIRE) |
1 |
Cirrhosis, North American Indian childhood type (CIRH1A) |
1 |
Citrullinemia (ASS1, SLC25A13) |
2 |
Cleft Lip (BMP4, IRF6, MSX1, PVRL1, SUMO1, TP63) |
6 |
Cleft palate; orofacial cleft |
18 |
Clubfoot, congenital (HOXC11, HOXC12, PITX1, TBX4) |
4 |
Coenzyme Q10 deficiency (ADCK3, COQ2, COQ4, COQ9, ETFDH, PDSS1, PDSS2) |
7 |
Cold-induced autoinflammatory syndrome, familial (NLRP3, NLRC4, NLRP12, PLCG2,) |
4 |
Colon Adenocarcinoma (RAD54L) |
1 |
Combined cellular and humoral immune defects with granulomas (RAG1, RAG2) |
2 |
Combined immunodeficiency, moderate (CD3E, IL2RG) |
2 |
Combined oxidative phosphorylation deficiency |
26 |
Combined pituitary hormone deficiency (GHR, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1) |
7 |
Complement component 5 deficiency (C5D) |
1 |
Complement component 6 deficiency (C6D) |
1 |
Complement component 7 deficiency (C7D) |
1 |
Congenital adrenal hyperplasia (CYP21A2, STAR, HSD3B2, CYP11B1, POR, CYP17A1) |
6 |
Congenital hypothyroidism (GLIS3, NKX2-1, TPO, TSHR, PAX8) |
5 |
Cowden Syndrome (AKT1, KLLN, PIK3CA, PTEN, SDHB, SDHD) |
6 |
Crigler-Najjar Syndrome (UGT1A1) |
1 |
Crohn Disease (IL6) |
1 |
Crouzon Syndrome (FGFR2, FGFR3) |
2 |
Cryptorchidism, bilateral idiopathic (INSL3) |
1 |
Culler-Jones Syndrome (GLI2) |
1 |
Currarino Syndrome (MNX1) |
1 |
Cutis Laxa (ALH18A1, ATP6V0A2, EFEMP2, ELN, FBLN5, PYCR1) |
6 |
Cystic fibrosis (CFTR, SLC6A14, SCNN1A, SCNN1B |
4 |
Darier disease (ATP2A2, ATP2A2B) |
2 |
De Sanctis-Cacchione syndrome (ERCC6) |
1 |
Deafness |
79 |
Deep venous thrombosis (F9) |
1 |
Dejerine-Sottas Syndrome (EGR2, MPZ, PMP22) |
3 |
Dent disease (CLCN5, OCRL) |
2 |
Dentin Dysplasia (DSPP, SMOC2) |
2 |
Denys-Drash Syndrome (WT1) |
1 |
Diabetes insipidus, nephrogenic (AQP2, AVPR2) |
2 |
Diarrhea 3, secretory sodium, congenital, syndromic |
1 |
Diarrhea 4, malabsorptive, congenital (NEUROG3) |
1 |
Diarrhea 5, with tufting enteropathy, congenital (EPCAM) |
1 |
DiGeorge Syndrome (DGCR2, TBX1) |
2 |
Dowling-Degos disease (KRT5, POGLUT1, POFUT1) |
3 |
Dravet Syndrome (GABRG2, SCN1A, SCN2A, SCN9A) |
4 |
Du Pan Syndrome (GDF5) |
1 |
Duchenne muscular dystrophy (DMD) |
1 |
Dyschromatosis symmetrica hereditaria (ADAR) |
1 |
Eating disorders (BDNF, MC4R) |
2 |
Ectodermal Dysplasia (CDH3, EDA, EDAR, EDARADD, GJB6, GRHL2, HOXC13, IKBKG, KRT85, MSX1, NFKBIA, PKP1, PVRL4) |
|
Endometrial Cancer (CDH1, MLH3, MSH3, MSH6, PTEN) |
5 |
Endometriosis (AHRR, PGR, MMP2, BRCA1) |
4 |
Enterokinase deficiency (PRSS7) |
1 |
Epidermal nevus |
0 |
Epidermodysplasia verruciformis |
3 |
Epidermolysis bullosa dystrophica/pruriginosa |
1 |
Epidermolysis bullosa of hands and feet |
3 |
Epidermolysis bullosa simplex with pyloric atresia |
3 |
Epidermolysis bullosa simplex, Dowling-Meara type |
2 |
Epidermolysis bullosa simplex, Ogna type |
1 |
Epidermolysis bullosa, generalized atrophic benign |
1 |
Epidermolysis bullosa, junctional, non-Herlitz type |
1 |
Epidermolysis bullosa, lethal acantholytic |
1 |
Epidermolytic hyperkeratosis |
2 |
Episodic ataxia (CACNA1A, CACNB4, KCNA1, SLC1A3) |
4 |
Erythroderma (DSG1) |
1 |
Escobar Syndrome (CHRNG) |
1 |
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis |
1 |
Female pseudo-Turner syndrome |
17 |
Fertile eunuch syndrome (LHB) |
1 |
Folate malabsorption, hereditary (SLC46A1) |
1 |
Follicle-stimulating hormone deficiency, isolated, female (FSHB, FSHR) |
2 |
Follicle-stimulating hormone deficiency, isolated, male |
1 |
Galactose Epimerase Deficiency (GALE) |
1 |
Galactosemia (GALT, GALK1, GALE) |
3 |
Gallbladder Disease 1 (ABCB4) |
1 |
Glaucoma (ACVR1, ASB10, BEST1, CANT1, COL18A1, CYP1B1, FOXC1, LMX1B, LOXL1, LTBP2, MYOC, NTF4, OPTN, PAX6, PITX2, PITX3, SBF2, WDR36) |
18 |
Globozoospermia (DPY19L2, SPATA16) |
2 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria (UMOD) |
1 |
Glomerulopathy with fibronectin deposits 2 |
1 |
Glomerulosclerosis, focal segmental |
21 |
Glutaric acidemia type-1-GA-1 |
1 |
Gout, PRPS-related (PRPS1) |
1 |
Graves disease |
0 |
Growth Hormone Deficiency (GH1, GHRHR, GHSR, HESX1) |
4 |
Growth Retardation (FTO, IGF1) |
2 |
HELLP syndrome, maternal, of pregnancy |
1 |
Hemangioma, capillary infantile, somatic |
3 |
HMG-CoA lyase deficiency |
1 |
Hoyeraal-Hreidarsson syndrome |
1 |
Human dermatosparaxis |
1 |
Hydatidiform mole |
1 |
Hydranencephaly with abnormal genitalia |
1 |
Hyper-IgD syndrome |
1 |
Hyper-IgE recurrent infection syndrome |
2 |
Hyperammonemia, Hyperornithinemia, Homocitrullinuria (HHH Syndrome) |
1 |
Hypercalciuria, genetic (SLC34A3, ADCY10, CASR, CLDN16, CLDN19, CYP24A1) |
6 |
Hyperekplexia (GLRB, GLRA1, SLC6A5) |
3 |
Hypertension (ADD1, AGT, AGTR1, CYP3A5, ECE1, GNB3, KCNMB1, NOS2, NOS3, NR3C2, PTGIS) |
11 |
Hyperthyroidism (TSHR) |
1 |
Hyperuricemic nephropathy, familial juvenile |
2 |
Hypocalciuric hypercalcemia, type I (CASR) |
1 |
Hypogonadotropic hypogonadism, female |
21 |
Hypogonadotropic hypogonadism, male |
21 |
Hypomyelination (DARS, SLC25A12) |
2 |
Hypoparathyroidism (GATA3, GCM2, PTH) |
3 |
Hypoproteinemia, hypercatabolic |
1 |
Hypospadias (AR, MAMLD1) |
1 |
Hypospadias 1, X-linked |
1 |
Hypospadias 2, X-linked |
1 |
Hypothyroidism (IGSF1, NKX2-5, PAX8, THRA, TSHB, TSHR) |
6 |
Hypotrichosis (APCDD1, CDH3, CDSN, DSG4, HR, LIPH, LPAR6, RPL21, SNRPE1) |
9 |
Hypotrichosis and recurrent skin vesicles |
1 |
Hypotrichosis simplex of scalp |
3 |
Hypotrichosis, congenital, with juvenile macular dystrophy |
1 |
Hypotrichosis, hereditary, Marie Unna type |
1 |
Hypotrichosis, localized |
3 |
Hypotrichosis-lymphedema-telangiectasia syndrome |
1 |
Hypouricemia (SLC22A12, SLC2A9) |
2 |
Ichthyosiform erythroderma, congenital, nonbullous, type 1 |
2 |
Ichthyosis |
34 |
Ichthyosis bullosa of Siemens |
2 |
Ichthyosis follicularis, atrichia, and photophobia syndrome |
1 |
Ichthyosis prematurity syndrome |
1 |
Ichthyosis vulgaris |
1 |
Ichthyosis with hypotrichosis |
1 |
Ichthyosis, congenital |
9 |
Ichthyosis, cyclic, with epidermolytic hyperkeratosis |
2 |
Ichthyosis, harlequin |
1 |
Ichthyosis, lamellar |
4 |
Ichthyosis, leukocyte vacuoles, alopecia and sclerosing cholangitis |
1 |
Ichthyosis; hystrix-like ichthyosis with deafness |
1 |
IgG receptor deficiency (FCGR1A) |
1 |
IgG receptor deficiency (FCGR1A) |
1 |
IMAGE Syndrome (CDKN1C) |
1 |
Immunodeficiency due to defect in CD3-zeta |
1 |
Immunodeficiency due to defect in MAPBP-interacting protein |
1 |
Immunodeficiency due to purine nucleoside phosphorylase deficiency |
1 |
Immunodeficiency with hyper IgM, type 4 |
1 |
Immunodeficiency with hyper-IgM, type 2 |
1 |
Immunodeficiency with hyper-IgM, type 3 |
1 |
Immunodeficiency, common variable |
10 |
Immunodeficiency, hypogammaglobulinemia, and reduced B cells |
1 |
Immunodeficiency, isolated |
1 |
Immunodeficiency-centromeric instability-facial anomalies syndrome |
4 |
Immunodysregulation, polyendocrinopathy, and enteropathy |
1 |
Inclusion Body Myopathy (GNE, VCP) |
2 |
Incontinentia pigmenti (Bloch-Sulzberger syndrome) |
1 |
Inflammatory bowel disease (ABCB1, ATG16L1, IL10RA, IL10RB, IL23R, IRF5, IRGM, NOD2, SEL1L) |
9 |
Inflammatory bowel disease 25 (CRFB4) |
1 |
Insulin Resistance (PPARG, PPP1R3A, PTPN1) |
3 |
Interleukin 1 receptor antagonist deficiency |
1 |
Interleukin 2 receptor, alpha chain, deficiency of |
1 |
IRAK4 deficiency type 1 |
1 |
IRAK4 deficiency type 2 |
1 |
Isovaleric acidemia |
1 |
IVIC Syndrome (SALL4) |
1 |
Kabuki Syndrome (KDM6A, KMT2D) |
2 |
Kallmann syndrome |
14 |
Kaposi Sarcoma (IL6) |
1 |
Kenny-Caffey Syndrome (FAM111A, TBCE) |
2 |
Keratoderma (AAGAB, GJB2) |
2 |
Keratoderma, palmoplantar, with deafness |
1 |
Keratosis follicularis spinulosa decalvans |
1 |
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma |
1 |
Keratosis palmoplantaris striata |
3 |
Keratosis, seborrheic, somatic |
1 |
Kindler syndrome |
1 |
Kleefstra syndrome |
5 |
Krabbe disease |
2 |
Krabbe Disease (GALC, PSAP) |
2 |
Lactic acidosis, fatal infantile |
2 |
Laing distal myopathy |
1 |
Laryngoonychocutaneous syndrome |
1 |
Lathosterolosis |
1 |
Legius syndrome |
1 |
Leigh syndrome (BCS1L,COX10,COX15,FOXRED1,NDUFA12,NDUFA2,NDUFA9,NDUFAF2,NDUFAF6,NDUFS3,NDUFS4,NDUFS7,NDUFS8,SDHA,SURF1, C12ORF65, GFM2, GYG2, HIBCH, IARS2, MTFMT, NDUFA5, PDHA1, PDHB, PDSS2, PET100, SLC19A3, TACO1, TSFM, NUBPL, NDUFA10, NDUFAF1, NDUFAF3, NDUFA13, ACAD9) |
35 |
Leigh syndrome, French-Canadian type (LRPPRC) |
1 |
Leigh-like syndrome |
1 |
Leiomyoma (FH, HMGA2) |
2 |
Leiomyoma (FH, HMGA2) |
2 |
Lentiginosis, perioral (Peutz-Jeghers syndrome) |
1 |
Leopard Syndrome (BRAF, PTPN11, RAF1) |
3 |
Lesch-Nyhan syndrome (HPRT1) |
1 |
Leukodystrophy (AIMP1, FAM126A, GJC2, HSPD1, LMNB1, POLR3A, POLR3B, PYCR2, RARS, TUBB4A) |
10 |
Leydig cell hypoplasia with hypergonadotropic hypogonadism |
1 |
Leydig cell hypoplasia with pseudohermaphroditism |
1 |
Liddle syndrome |
2 |
LIG4 syndrome |
1 |
LIG4 Syndrome (LIG4) |
1 |
Lipodystrophy (AGPAT2, BSCL2, LIPE, LMNA, LMNB2, PLIN1, PPARG, PTRF) |
8 |
Lipoma (LPP, MEN1) |
2 |
Lissencephaly, X-linked |
1 |
Liver failure, acute infantile |
3 |
Loeys-Dietz syndrome (SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2) |
5 |
Lupus |
3 |
Luteinizing hormone resistance, female |
1 |
Lymphoma (ATM, BCL10, BCL6, CASP10, KDSR, MAD1L1, PRF1, RAD54B, RAD54L) |
9 |
Lymphoproliferative syndrome, EBV-associated |
3 |
Majeed syndrome |
1 |
Male genital disorders |
4 |
Male infertility with large-headed, multiflagellar, polyploid spermatozoa |
1 |
Male infertility, multiple causes |
32 |
Male infertility, nonsyndromic, autosomal recessive |
1 |
Maple syrup urine syndrome (BCKDHA, BCKDHB, DBT, PPM1K) |
4 |
Marshall syndrome |
1 |
Meckel Syndrome (CC2D2A, CEP290, MKS1, NPHP3, RPGRIP1L, TMEM216, TMEM231, TMEM67) |
8 |
Medium-chain acyl-CoA Dehydrogenise Deficiency-MCAD |
1 |
Medullary cystic kidney disease 2 |
1 |
Medulloblastoma (BRCA2, PTCH2, SUFU) |
3 |
Meleda Disease (SLURP1) |
1 |
Membranoproliferative glomerulonephritis with CFH deficiency |
1 |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia |
1 |
Mental retardation-hypotonic facies, X-linked (ATRX) |
1 |
Methylcrotonyl carboxylase deficiency |
2 |
Methylmalonic acidemia |
15 |
Migraine and episodic ataxia |
1 |
Migraine and POLG-related disorders |
1 |
Mitochondrial complex I deficiency |
18 |
Mitochondrial complex II deficiency |
2 |
Mitochondrial complex III deficiency |
9 |
Mitochondrial complex IV deficiency |
12 |
Mitochondrial DNA depletion syndrome, encephalomyopathic form, with methylmalonic aciduria |
2 |
Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy |
1 |
Mitochondrial DNA depletion syndrome, hepatocerebral form |
3 |
Mitochondrial DNA depletion syndrome, myopathic form |
1 |
Mitochondrial myopathy and sideroblastic anemia (PUS1, YARS2) |
2 |
Mitochondrial neurogastrointestinal encephalomyopathy syndrome |
1 |
Mitochondrial neurogastrointestinal encephalomyopathy syndrome without leukoencephalopathy |
1 |
Mitochondrial phosphate carrier deficiency |
1 |
Mitochondrial respiratory chain complex II deficiency |
1 |
Molybdenum cofactor deficiency (GPHN, MOCS1, MOCS2) |
3 |
Monilethrix |
4 |
Moyamoya disease (ACTA2, GUCY1A3, RNF213) |
3 |
Mullerian aplasia and hyperandrogenism |
1 |
Multiple Joint Dislocations (Larsen Syndrome) (B3GAT3) |
1 |
Muscle glycogenosis |
1 |
Myasthenic Syndrome (AGRN, ALG2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, DOK7, DPAGT1, MUSK, RAPSN, SCN4A, SYT2) |
14 |
Myasthenic syndrome, congenital, associated with episodic apnea |
2 |
Mycobacterial infection, atypical, familial disseminated |
4 |
Myelofibrosis (JAK2, MPL, SH2B3) |
3 |
Myeloproliferative disorder with eosinophilia |
1 |
Myhre Syndrome (SMAD4) |
1 |
Myhre Syndrome (SMAD4) |
1 |
Myocardial infarction (ACE, APOE, ESR1, F13A1, F7, GCLC, GCLM, ITGB3, LGALS2, LRP8, LTA, MIAT, OLR1, PSMA6, TNFSF4) |
15 |
Myoglobinuria (LPIN1) |
1 |
Myotonic dystrophy (CNBP, DMPK) |
2 |
Myxoma (PRKAR1A) |
1 |
N syndrome |
0 |
Nail Disorder (FZD6, PLCD1) |
2 |
Nail-patella Syndrome (LMX1B) |
1 |
Nance-Horan Syndrome (NHS) |
1 |
Nanopthalmos (MFRP) |
1 |
Narcolepsy (HCRT, MOG) |
HCRT, MOG |
Naxos Disease (JUP) |
1 |
Nemaline myopathy |
10 |
Nemaline Myopathy (ACTA1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3, NEB, TNNT1, TPM2, TPM3) |
10 |
Nemaline myopathy 1 |
1 |
Nemaline myopathy 2 |
1 |
Nemaline myopathy 7 |
1 |
Nemaline myopathy, Amish Type |
1 |
Nephrogenic syndrome of inappropriate antidiuresis |
1 |
Nephrolithiasis, type I |
1 |
Nephrolithiasis/osteoporosis, hypophosphatemic |
2 |
Nephronophthisis, juvenile |
3 |
Nephronopthisis (ANKS6, CEP164, CEP83, DCDC2, GLIS2, INVS, NPHP1, NPHP3, NPHP4, TMEM67, TTC21B, WDR19, ZNF423) |
13 |
Nephropathy (CD151, CFHR5) |
2 |
Nephropathy with pretibial epidermolysis bullosa and deafness |
1 |
Nephrotic Syndrome (ARHGD1A, DGKE, EMP2, LAMB2, NPHS2, PLCE1, PTPRO, WT1) |
8 |
Nephrotic syndrome, type 1 |
1 |
Netherton Syndrome (SPINK5) |
1 |
Neu-Laxova Syndrome (PHGDH, PSAT1) |
2 |
Neural tube defects (FUZ, MTHFR, MTR, MTRR, T, VANGL1, VANGL2) |
7 |
Neuroblastoma (ALK, KIF1B, NME1, PHOX2B) |
4 |
Neurofibromatosis (NF1, NF2, SMARCB1, SPRED1) |
4 |
Neutropenia, severe congenital |
8 |
Neutrophil immunodeficiency syndrome |
1 |
Neutrophilia, hereditary |
1 |
Nevus, epidermal, epidermolytic hyperkeratotic type |
5 |
Noonan-like syndrome with loose anagen hair |
1 |
Oocyte Maturation Defect (ZP1) |
1 |
Ovalocytosis (SLC4A1) |
1 |
Ovarian Adenocarcinoma (PARK2) |
1 |
Ovarian response to FSH stimulation (FSHR) |
1 |
Pachyonychia congenita |
4 |
Pallister-Hall Syndrome (GLI3) |
1 |
Palmoplantar hyperkeratosis and true hermaphroditism |
1 |
Palmoplantar keratoderma, nonepidermolytic |
1 |
Palmoplantar keratoderma, nonepidermolytic, focal |
3 |
Pancreatitis (CFTR, CPA1, CTRC, PRSS1, SPINK1) |
5 |
Pancreatitis, hereditary |
5 |
Partington Syndrome (ARX) |
1 |
Partington Syndrome (ARX) |
1 |
Peeling Skin Syndrome (CDSN, CHST8, CSTA, TGM5) |
4 |
Pelger-Huet Anomaly (LBR) |
1 |
Pendred Syndrome (SLC26A4) |
1 |
Pentosuria (DCXR) |
1 |
Periodic fever, familial |
3 |
Perlman Syndrome (DIS3L2) |
1 |
Persistent Mullerian duct syndrome |
2 |
Peters Anomaly (CYP1B1, PAX6, PTX2) |
3 |
Pfeiffer Syndrome (FGFR1, FGFR2) |
2 |
Phenylketonuria (PAH) |
3 |
Pick Disease (PSEN1) |
1 |
Piebaldism |
2 |
Pigmented adrenocortical disease, primary, 1 |
1 |
Pigmented nodular adrenocortical disease, primary, 2 |
1 |
Pilomatricoma |
2 |
Poikiloderma with neutropenia |
1 |
Polycystic kidney and hepatic disease |
1 |
Polycystic kidney disease (PKD1, PKD2, PKHD1, ANKS6, GANAB) |
5 |
Polycystic liver disease (LRP5, PRKCSH, SEC63) |
3 |
Polycystic ovary syndrome (SULT2B1, SULT2A1) |
2 |
Pompe Disease (GAA) |
1 |
Poretti-Boltshauser syndrome (LAMA1) |
1 |
Porokeratosis, disseminated superficial actinic, 1 |
1 |
Porphyria cutanea tarda (PCT), familial |
2 |
Precocious puberty, central, female |
2 |
Precocious puberty, central, male |
2 |
Precocious puberty, male |
1 |
Premature ovarian failure (FMR1) |
20 |
Primary Hyperoxaluria |
3 |
Progesterone resistance |
1 |
Progressive external ophthalmoplegia with mitochondrial DNA deletions 3 |
2 |
Protein S deficiency (PROS1) |
1 |
Prune-Belly Syndrome (CHRM3) |
1 |
Pseudoachondroplasia (COMP) |
1 |
Pseudohermaphroditism, with gynecomastia, male |
1 |
Pseudohypoaldosteronism, type I |
4 |
Pseudohypoparathyroidism type Ia |
1 |
Pseudohypoparathyroidism type Ib |
2 |
Pseudohypoparathyroidism type Ic |
1 |
Pseudovaginal perineoscrotal hypospadias |
1 |
Pseudoxanthoma elasticum |
4 |
Pyogenic bacterial infections, recurrent, due to MYD88 deficiency |
1 |
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne |
1 |
Recurrent miscarriages |
3 |
Recurrent miscarriages associated with HLA type |
1 |
Refsum Disease (PHYH) |
1 |
Refsum Disease Panel (PEX1, PEX2, PEX26, PEX7, PHYH) |
5 |
Renal adysplasia |
2 |
Renal agenesis (FGF20, FRAS1, FREM1, FREM2, GDNF, RET, TNS3) |
7 |
Renal cysts and diabetes syndrome |
1 |
Renal glycosuria (SLC5A2) |
1 |
Renal tubular acidosis with deafness |
1 |
Renal tubular acidosis, distal |
2 |
Renal tubular acidosis, proximal, with ocular abnormalities |
1 |
Renal-hepatic-pancreatic dysplasia |
1 |
Restrictive dermopathy, lethal |
2 |
Reticular dysgenesis |
1 |
RIDDLE syndrome (RNF168) |
1 |
Rippling Muscle Disease (CAV3) |
1 |
Roberts Syndrome (ESCO2) |
1 |
Roussy-Levy Syndrome (PMP22) |
1 |
Rubinstein-Taybi Syndrome (EP300, CREBBP) |
2 |
Schimke immuno-osseous dysplasia |
1 |
Schindler Syndrome (NAGA) |
1 |
Schinzel syndrome (KIAA0196, TBX3) |
2 |
Schizencephaly (EMX2, SHH, SIX3) |
3 |
Seborrhea-like dermatitis with psoriasiform elements (SLDP) |
1 |
Sengers Syndrome (AGK) |
1 |
Sensorineural deafness with mild renal dysfunction |
1 |
Sertoli-cell-only syndrome |
3 |
Severe combined immunodeficiency (SCID) |
23 |
Shaheen Syndrome (COG6) |
1 |
Short Bowel Syndrome (CLMP, FLNA) |
2 |
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) |
2 |
Sickle cell disease |
1 |
Silver-Russell syndrome |
8 |
Skin fragility-woolly hair syndrome |
1 |
Skin/hair/eye pigmentation 9, dark/light hair |
1 |
Spastic Ataxia (KIF1, MARS2, SACS, VAMP1) |
4 |
Spina Bifida (CCL2, MTHFD1) |
CCL2, MTHFD1 |
Spondylocarpotarsal synostosis syndrome |
1 |
Spondylocostal dysostosis |
5 |
Spondylocostal dystostosis type 4 |
1 |
Spondyloepimetaphyseal dysplasia |
10 |
Spondyloepimetaphyseal dysplasia, Aggrecan type |
1 |
Spondyloepimetaphyseal dysplasia, Missouri type |
1 |
Spondyloepimetaphyseal dysplasia, Strudwick type |
1 |
Spondyloepimetaphyseal dysplasia, type I |
1 |
Spondyloepiphyseal dysplasia tarda |
1 |
Spondyloepiphyseal dysplasia tarda with progressive arthropathy |
1 |
Spondyloepiphyseal dysplasia with congenital joint dislocations (CHST3) |
1 |
Stargardt Disease (ABCA4) |
1 |
Sudden Infant Death Syndrome (SCN5A, TSPYL1) |
2 |
Sudden infant death with dysgenesis of the testes syndrome (TSPYL1) |
1 |
Sulfatase Deficiency (SUMF1) |
1 |
Syndactyly (BHLHA9, CACNA1C, FAM58A, FGFR1, FGFR2, FRAS2, FREM2, FBLN1, GJA1,GLI3, HOXD13, LMBR1, PVRL4, RAB23, GRIP1, PVRL1, SOST, TWIST1) |
18 |
Systemic Lupus Erythematosus (BANK1, CR2, CTLA4, DNAS1, DNASE1L3, FCGR2B, IRF5, ITGAM, PDCD1, PTPN22, STAT4, TLR5, TREX1) |
13 |
Systemic Lupus Erythematosus (CTLA4, DNASE1, FCGR2A, FCGR2B, PTPN22, TREX1) |
6 |
T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
1 |
Tangier Disease (ABCA1) |
1 |
TARP syndrome (RBM10) |
1 |
Tay-Sachs Disease (HEXA) |
1 |
Telangiectasia (ACVRL1, ENG, GDF2) |
3 |
Tenorio Syndrome (RNF125) |
1 |
Testicular feminization syndrome |
1 |
Testicular microlithiasis |
1 |
Testicular Tumor (STK11) |
1 |
Testicular tumor, sporadic |
0 |
Tetralogy of Fallot (GATA4, GATA6, JAG1, NKX2-5, TBX1, ZFPM2) |
6 |
Thalassemia |
7 |
Thyroid Cancer (APC, PTEN, RET) |
3 |
Toenail dystrophy, isolated (COL7A1) |
1 |
Tourette Syndrome (HDC, SLITRK1) |
2 |
Traboulsi Syndrome (ASPH) |
1 |
Transcobalamine II Deficiency (TCN2) |
1 |
Treacher Collins (POLR1C, POLR1D, TCOF1) |
3 |
Trichoepithelioma, multiple familial, 1 (CYLD) |
1 |
Trichorhinophalangeal syndrome, type I (TRPS1) |
1 |
Trichothiodystrophy, nonphotosensitive 1 (MPLKIP, RNF113A) |
2 |
Trifunctional protein deficiency (HADHB) |
2 |
Tuberous Sclerosis (TSC1, TSC2) |
2 |
Ullrich Muscular Dystrophy (COL6A1, COL6A2, COL6A3) |
3 |
Urea Cycle Disorder (ARG1, ASL, ASS1, CPS1, NAGS, OTC) |
6 |
Van Buchem Disease (SOST) |
1 |
Variegate porphyria (PPOX) |
1 |
Vesicoureteral reflux 2 (ROBO2) |
1 |
Vici Syndrome (EPG5) |
1 |
Vitamin E familial deficiency (TTPA) |
1 |
Vohwinkel syndrome (GJB2, LOR) |
2 |
Warburg micro syndrome 1 (RAB3GAP1) |
1 |
Weaver Syndrome (EZH2) |
1 |
Werner Syndrome (RECQL2) |
1 |
WHIM syndrome (CXCR4) |
1 |
White sponge nevus (KRT13, KRT4) |
2 |
Wrinkly skin syndrome (ATP6V0A2) |
1 |
X-inactivation, familial skewed |
1 |
X-linked Anemia (GATA1) |
1 |
Xeroderma pigmentosum (DDB2,ERCC1, ERCC2,ERCC3,ERCC4,ERCC5,POLH,XPA,XPC) |
9 |
Xeroderma pigmentosum, variant type (POLH) |
1 |
XFE Progeroid Syndrome (ERCC4) |
1 |
Y-chromsome microdeletion |
0 |