| Disease | OMIM gene | OMIM Disease | gene |
| 46XY complete gonadal dysgenesis | 605423 | 233420 | DHH |
| 46XY gonadal dysgenesis, complete or partial, with or without adrenalfailure | NR5A1 | ||
| Abetalipoproteinemia | MTP | ||
| Adipositas | LEP | ||
| Adrenal hyperplasia, congenital | 202010 | CYP11B1 | |
| Adrenal hyperplasia, congenital | 609300 | 202110 | CYP17A1 |
| Adrenal hyperplasia, congenital | 210910 | 201910 | CYP21A2 |
| Adrenal hyperplasia, congenital | 201810 | HSD3B2 | |
| Afibrinogenemia, congenital | 134820 | 202400 | FGA |
| Afibrinogenemia, congenital | 134830 | 202400 | FGB |
| Afibrinogenemia, congenital | 134850 | 202400 | FGG |
| Alagille syndrome 1 (ALGS1) | 118450 | JAG1 | |
| Alagille syndrome 2 (ALGS2) | 600275 | 610205 | Notch 2 |
| Albinism, oculocutaneous, type IA | 203100 | TYR | |
| Albinism, oculocutaneous, type II | 611409 | 203200 | OCA2 |
| Alpers-Huttenlocher syndrome | 174763 | 203700 | POLG |
| Alpha-1-Antitrypsin deficiency | 107400 | PI | |
| Amelogenesis imperfecta | 606585 | 204650 | ENAM |
| Amelogenesis imperfecta type IIA1 | 603767 | 204700 | KLK4 |
| Amyotrophic lateral sclerosis ALS1 | 147450 | 105400 | SOD1 |
| Amyotrophic lateral sclerosis ALS10 | 612069 | 605078 | TARDBP |
| Amyotrophic lateral sclerosis ALS4 | 608465 | 602433 | SETX |
| Amyotrophic lateral sclerosis ALS6 | 608030 | FUS | |
| Angelman syndrome (AS) | 601623 | 105830 | 15q11-q13 UBE3A |
| Angioedema, hereditary | 606860 | 106100 | C1NH |
| Aniridia, type II | 106210 | PAX6 | |
| Apolipoprotein E deficiency | 107741 | APOE | |
| arrayCGH 105k | |||
| arrayCGH 244k | |||
| arrayCGH 44k | |||
| arrayCGH validation | |||
| Arthrogryposis, distal, type 1 (DA1) | 190990 | 108120 | TPM2 |
| Arthrogryposis, distal, type 2A | 160720 | 193700 | MYH3 |
| Arthrogryposis, distal, type 2B | 191043 | 601680 | TNNI2 |
| Arthrogryposis, distal, type 2B | 600692 | 601680 | TNNT3 |
| Asthma, susceptibility to | 605238 | 600807 | HNMT |
| Ataxia with Oculomotor Apraxia 1 | 606350 | 208920 | APTX |
| Ataxia with Oculomotor Apraxia 2 | 608465 | 606002 | SETX |
| Ataxia with Vitamin-E deficiency (VED) | 600415 | 277460 | TTPA |
| Bardet Biedl syndrome 1 | BBS1 | ||
| Bardet Biedl syndrome 10 | BBS10 | ||
| Bardet Biedl syndrome 12 | BBS12 | ||
| Bardet Biedl syndrome 2 | BBS2 | ||
| Bardet Biedl syndrome 6 | BBS6 (=MKKS) | ||
| Basal Ganglia Disease | 134790 | 606159 | FTL |
| Beare-Stevenson syndrome | 176943 | 123790 | FGFR2 |
| Beckwith-Wiedemann | 600856 | 130650 | CDKN1C |
| Beckwith-Wiedemann | 103280; 604115 | 130650 | different |
| Bernard-Soulier syndrome | 606672/138720/173515 | 231200 | GP1BA; GP1BB; GP9 |
| Beta-Thalassemia (sickle cell anaemia) | 141900 | 141900 | HBB |
| Brachydactyly type B1, BDB1 | 602337 | 11300 | ROR2 |
| Brachydactyly type B2, BDB2 | 602991 | 611337 | NOG |
| Branchiootorenal syndrome (BOR) | 601653 | 113650 | EYA1 |
| Branchiootorenal syndrome (BOR) | 601205 | 113650 | SIX1 |
| Branchiootorenal syndrome (BOR) 2 | 600963 | 610896 | SIX5 |
| Bruck syndrome type 2 | 601865 | 609220 | PLOD2 |
| Budd-Chiari | 147796 | 600880 | JAK2 |
| C syndrome | 606037 | 211750 | CD96 |
| CADASIL | 600276 | 177400 | NOTCH3 |
| Campomelic Dysplasia | 313430 | 114290 | SOX9 |
| Cardiofaciocutaneous syndrome | 164757 | 115150 | BRAF |
| Cardiofaciocutaneous syndrome | 190070 | 115150 | KRAS |
| Carnitine Palmitoyltransferase II Deficiency | 600650 | 255110 | CPT2 |
| Cerebrotendinous Xanthomatosis | 606530 | 213700 | CYP27A1 |
| Charcot-Marie-Tooth disease, type 1A (CMT1A) | 601097 | 118220 | PMP22 |
| Charcot-Marie-Tooth disease, type 1B (CMT1B) | 159440 | 118200 | MPZ |
| Charcot-Marie-Tooth disease, type 1C (CMT1C) | 603795 | 601098 | LITAF |
| Charcot-Marie-Tooth disease, type 1D (CMT1D) | 129010 | 607678 | EGR2 |
| Charcot-Marie-Tooth disease, type 2A (CMT2A) | 608507 | 609260 | MFN2 |
| Charcot-Marie-Tooth disease, type 2C (CMT2C) | 605427 | 606071 | TRPV4 |
| Charcot-Marie-Tooth disease, X-linked (CMTX1) | 304040 | 302800 | GJB1 |
| Charcot-Marie-Tooth type 1E | 601097 | 118220 | PMP22 |
| CHARGE | 608892 | 214800 | CHD7 |
| Cherubism | 602104 | 118400 | SH3BP2 |
| Chondrodysplasia punctata (CDPX2) | 608674 | 302960 | EBP |
| Chondrodysplasia punctata (CDPX2) | 300180 | 300180 | ARSE |
| Chondrodysplasia punctata rhicomelic 1 | 601757 | 302960 | PEX7 |
| Chondrodysplasia punctata, rhicomelic 2 | 602744 | 222765 | GNPAT |
| Choroideremia | 300390 | 303100 | CHM |
| Cockayne syndrome A | 609412 | 21640 | ERCC8 |
| Cockayne syndrome B | 609413 | 133540 | ERCC6 |
| Colorectal cancer, hereditary nonpolyposis, type 1 (HNPCC1) | 609309 | 120435 | MSH2 |
| Colorectal cancer, hereditary nonpolyposis, type 2 (HNPCC2) | 120436 | 609310 | MLH1 |
| COPROPORPHYRIA | 612732 | 121300 | CPOX |
| Cornelia-de-Lange syndrome (CDL) | 608667 | 122470 | NIPBL |
| Cornelia-de-Lange syndrome (CDL) | 122470 | SMC1L1 (SMC1A) | |
| Cornelia-de-Lange syndrome (CDL) | SMC3 | ||
| Costello syndrome | 218040 | HRAS | |
| cowden | 176300 | 105210 | TTR |
| Cowden Disease | 601728 | 158350 | PTEN |
| CRASH syndrome | 308840 | 303350 | L1CAM |
| Crigler-Najjar syndrome | 191740 | 218800 | UGT1A1 |
| Crouzon syndrome | 176943 | 123500 | FGFR2 |
| Currarino syndrome | 142994 | 176450 | HLXB9 (MNX1) |
| Cutaneous Malignant Melanoma | CDKN2A | ||
| Cystic Fibrosis (CF) | 602421 | 219700 | CFTR |
| Cystinuria | 104614 | 220100 | SLC3A1 |
| Deafness, neurosensory, autosomal recessive (DFNB1) | 121011 | GJB2 | |
| Deafness, neurosensory, autosomal recessive (DFNB1) | 604418 | 220290 | GJB6 |
| Dementia, frontotemporal, with or without parkinsonism | MAPT | ||
| Denys-Drash syndrome | 607102 | 194080 | WT1 |
| Diastrophic dysplasia | 606718 | 222600 | SLC26A2 |
| DiGeorge syndrome Velocardialfacial syndrome (VCFS) | 188400, 192430 | 22q11.2 and other regions | |
| Dravet syndrome | 182389 | 604233 | SCN1A |
| Duane-radial ray syndrome | 607343 | 607323 | SALL4 |
| Dysautonomia,familial | IKBKAP | ||
| Dysfibrinogenemia | 134850 | 202400 | FGA |
| Dysfibrinogenemia | 134830 | 202400 | FGB |
| Dysfibrinogenemia | 134850 | 202400 | FGG |
| Dystonia 1 | 128100 | DYT1 | |
| Dystonia, dopa-responsive (Segawa syndrome, DRD) | 600225 | 128230 | GCH1 |
| Dystrophia myotonica I | 605377 | 160900 | DMPK |
| Dystrophia myotonica II | 116955 | 602668 | ZNF9 |
| ectodermal dysplasia | 602273 | TP63 | |
| Ectodermal dysplasia 3, anhidrotic (ED3) | 129490 | EDAR | |
| Ectodermal dysplasia, anhidrotic | 606603 | 224900 | EDARADD |
| Ectodermal dysplasia, X-linked (ED1) | 300451 | 305100 | ED1 |
| Emery-Dreifuss muscular dystrophy (EMD2, EMD3) | 150330 | 181350, 604929 | LMNA |
| Encephalopathy, epileptic early infantile | 182810 | 613477 | SPTAN1 |
| EPILEPSY OF UNVERRICHT AND LUNDBORG | 601145 | 254800 | CSTB |
| Epilepsy, benign neonatal, 1 (EBN1) | 602235 | 121200 | KCNQ2 |
| EPILEPSY, BENIGN NEONATAL, 2; EBN2 | 602232 | 121201 | KCNQ3 |
| EPILEPSY, CHILDHOOD ABSENCE, 1; ECA1 | 137164 | 600131 | GABRG2 |
| EPILEPSY, CHILDHOOD ABSENCE, 1; ECA1 | 600570 | 600131 | CLCN2 |
| Epilepsy, generalized with febrile seizures plus (GEFS+), type 1 | 600235 | 604233 | SCN1B |
| Epilepsy, generalized with febrile seizures plus (GEFS+), type 2 | 182389 | 604233 | SCN1A |
| Epilepsy, generalized with febrile seizures plus (GEFS+), type 3 | 137140 | GABRG2 | |
| EPILEPSY, JUVENILE MYOCLONIC; JME | 601949 | 606904 | CACNB4 |
| EPILEPSY, JUVENILE MYOCLONIC; JME | 137160 | 606904 | GABRA1 |
| EPILEPSY, JUVENILE MYOCLONIC; JME | 600570 | 606904 | CLCN2 |
| EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT; ADLTE | 604619 | 600512 | LGI1 |
| Epilepsy, nocturnal frontal lobe, type 1 | 118504 | 600513 | CHRNA4 |
| Epilepsy, nocturnal frontal lobe, type 2 | 118504 | 603204 | CHRNA4 |
| Epilepsy, nocturnal frontal lobe, type 3 | 118507 | 605375 | CHRNB2 |
| Epilepsy, nocturnal frontal lobe, type 4 | 118502 | 610353 | CHRNA2 |
| Epilepsy, Pyriodoxine-dependent | 107323 | 266100 | ALDH7A1 |
| EPILEPSY. Lafora | EPM2A | ||
| EPILEPSY. Lafora | 608072 | EPM2B = NHLRC1 | |
| Epileptic encephalopathy, early infantile | 300460 | 300088 | PCDH19 |
| Epiphyseal dysplasia, multiple, 1 (EDM1) | 600310 | 132400 | COMP |
| Episodic Ataxia (EA1) | 602420 | 160120 | KCNA1 |
| Episodic Ataxia (EA2) | 601011 | 108500 | CACNA1A |
| Episodic Ataxia (EA2) | 601011 | 108500 | CACNA1A |
| Episodic Ataxia (EA5) | CACNB4 | ||
| Epstein syndrome | 160775 | 153650 | MYH9 |
| EXUDATIVE VITREORETINOPATHY 1 | 604579 | 133780 | FZD4 |
| Exudative vitreoretinopathy 4 | LRP5 | ||
| Fabry disease | 301500 | GLA | |
| Factor 10 deficiency | 227600 | 227600 | F10 |
| Factor 11 deficiency | F11 | ||
| Factor 2 deficiency | 187930 | 176930 | F2 |
| Factor 5 deficiency | 612309 | 227400 | F5 |
| Factor II deficiency | 187930 | 176930 | F2 |
| Factor V deficiency, Leiden | 227400 | FV | |
| Factor VII deficiency | 227500 | F7 | |
| FGFR2-related Craniosynostosis | 176943 | FGFR2 | |
| FGFR3-related Craniosynostosis | FGFR3 | ||
| Fichtner syndrome | 160775 | 153640 | MYH9 |
| Fragile X syndrome, type A | 309550 | 309550 | FMR1 |
| Fragile X syndrome, type E | 300806 | 309548 | FMR2 |
| Friedreich Ataxia | 606829 | 229300 | FXN1 |
| FRONTOTEMPORAL DEMENTIA; FTD | 138945 | 600274 | GRN |
| Fuhrmann syndrome | 601570 | 228930 | WNT7A |
| FUMARASE DEFICIENCY | 136850 | 606812 | FH |
| Galactosemia | 606999 | 230400 | GALT |
| Gastric Cancer | 192090 | 137215 | CDH1 |
| GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS | 137163 | 604233 | GABRD |
| Gilbert syndrome | 191740 | 143500 | UGT1A1 |
| Gilles-de-la-Tourette syndrome | SLITRK1 | ||
| Glaucoma 1 | 601771 | 137750 | CYP1B1 |
| GLUT1 DEFICIENCY SYNDROME | 138140 | 606777 | GLUT1 = SLC2A1 |
| Glycogen storage disease | 607839 | 607839 | GBE1 |
| GM1-Gangliosidiosis Type 1 | 611458 | 230500 | GLB1 |
| Growth Hormone Receptor (GHR) | 600946 | 600946 | GHR |
| Growth Hormone Releasing Hormone Receptor (GHRHR) | 139191 | 139191 | GHRHR |
| HAD deficiency | 231530 | HAD | |
| Hallervorden-Spatz-Syndrom | 606157 | 234200 | PANK2 |
| Hemochromatosis (HFE) | 235200 | 235200 | HFE |
| Hemochromatosis (TFR2) | TFR2 | ||
| Hemophagocytic Lymphohistiocytosis, familial FHL2 | 170280 | 603553 | PRF1 |
| Hemophagocytic Lymphohistiocytosis, familial FHL3 | 608897 | 608898 | UNC13D |
| Hemophagocytic Lymphohistiocytosis, familial FHL4 | 605014 | 603552 | STX11 |
| Hemophagocytic Lymphohistiocytosis, familial FHL5 | 613101 | 601717 | STXBP2 |
| Hepatitis C Virus Treatment Response | IL28B | ||
| HEREDITARY LEIOMYOMATOSIS WITH RENAL CELL CANCER (HLRCC) | 136850 | 606812, 150800 | FH |
| Hermansky-Pudlak Syndrome | 604982/606118/607145 | 203300 | HPS1, HPS3, HPS7 |
| Holoprosencephaly 3 (HPE2) | 600725 | 142945 | SHH |
| Holoprosencephaly 5 (HPE5) | 603073 | 609637 | ZIC2 |
| Holt-Oram syndrome (HOS) | 601620 | 142900 | TBX5 |
| Huntington disease (HD) | 613004 | 143100 | HD |
| Hutchinson-Gilford progeria syndrome (HGPS) | 150330 | 176670 | LMNA |
| Hydrocephalus | 308840 | 307000 | L1CAM |
| Hyper-IgD syndrome (HIDS) | 251170 | 260920 | MVK |
| Hyper-IgE-syndrome | STAT3 | ||
| Hypercalcemia | 126065 | 143880 | Cyp24A1 |
| Hypercholesterolemia | 143890 | 606945 | LDLR |
| Hyperekplexia | 138491 | GLRA1 | |
| Hyperekplexia | 138492 | GLRB | |
| Hyperferritinemia-cataract syndrome | 600886 | FTL | |
| Hyperparathyroidism | 601199 | 239200 | CASR |
| Hypochondroplasia (HCH) | 134934 | 146000 | FGFR3 |
| Hypokalemic periodic paralysis (HOKPP) | 114208/603967 | 170400 | CACNA1S, SCN4A |
| Hypolaemic periodic paralysis (HOKPP) | 0 | 0 | KCNE3 |
| Hypoparathyroidism | 603716 | 146200 | GCM2 |
| HYPOPHOSPHATEMIC RICKETS | 300550 | 307800 | PHEX |
| Incontinentia pigmentosa | 300248 | 0 | IKBKG/NEMO |
| Infantile-Onset Spinocerebellar Ataxia | 612640 | 271245 | C10ORF2 |
| Ivemark syndrome | 121014 | 208531 | GJA1 (Cx43) |
| Jackson-Weiss syndrome (JWS) | 176943 | 123150 | FGFR2 |
| Jewish Panel Carrier testing 21 most common mutations | 0 | 0 | 0 |
| Kallmann syndrome 1 (KAL1) | 308700 | 308700 | KAL1 |
| Kallmann syndrome 2 (KAL2) | 136350 | 147950 | FGFR1 |
| Kallmann syndrome 3 (KAL3) | 607123 | 244200 | PROKR2 |
| Kallmann syndrome 4 (KAL4) | 607002 | 610628 | PROK2 |
| Kallmann syndrome 5 (Kal5) | 6088925 | 0 | CHD7 |
| Kallmann syndrome 6 (Kal6) | 600483 | 0 | FGF8 |
| Kartagener syndrome | 0 | 0 | DNAI1/DNAH5 |
| Kearns-Sayre syndrome (KSS) | 0 | 530000 | mit |
| Keutel syndrome | 154870 | 245150 | MGP |
| Langer-Giedion syndrome | 604386 | 190350 | TRPS1 |
| LARON SYNDROME | 600946 | 262500 | GHR |
| Larson syndrome | 603381 | 150250 | FLNB |
| LEBER CONGENITAL AMAUROSIS 1; LCA1 | 600179 | 204000 | GUCY2D |
| Leber Optic Atrophie | 0 | 535000 | mit |
| Leigh syndrome (LS) | 0 | 256000 | MTATP6 |
| Leigh syndrome (LS) | 185620 | 256000 | SURF1 |
| LEOPARD syndrome 1 | 176876 | 151100 | PTPN11 |
| LERI-WEILL DYSCHONDROSTEOSIS; LWD | 312865 | 127300 | SHOX/SHOY |
| Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, LBSL | 610956 | 611105 | DARS2 |
| Lissencephaly | 605066 | 607432 247200 | YWHAE |
| Lissencephaly 2 (Norman-Roberts type) | 600514 | 257320 | RELN |
| Lissencephaly-1 | 601545 | 607432 | PAFAH1B1 = Lis1 |
| Lissencephaly-3 | 602529 | 611603 | TUBA1A |
| Long-QT-syndrome 2 | 152427 | 613688 | KCNH2 |
| LOWE SYNDROME | 300535 | 309000 | OCRL1 |
| Lujan Fryns syndrome | 0 | 0 | MED12 |
| Mannose-binding protein deficiency (MBL2) | 154545 | 154545 | MBL2 |
| Marfan syndrome (MFS) | 134797 | 154700 | FBN1 |
| Marfan syndrome type 2/LOEYS-DIETZ SYNDROME | 190182 | 190182 | TGFBR2 |
| Marfan syndrome type 2/LOEYS-DIETZ SYNDROME | 190181 | 608967 | TGFBR1 |
| Marple Syrup Urine Disease | 608348 | 0 | BCKDHA |
| Marple Syrup Urine Disease | 248611 | 0 | BCKDHB |
| Marple Syrup Urine Disease | 248610 | 0 | DBT |
| MASA syndrome | 308840 | 303350 | L1CAM |
| May-Hegglin Anomaly | 160775 | 155100 | MYH9 |
| McArdle Disease (Glycogen storage disease V) | 608455 | 232600 | pygm |
| Meckel syndrome type 1 | 609883 | 249000 | MKS1 |
| Mediterranean fever, familial (FMF) | 608107 | 249100 | MEFV |
| Medullary cystic kidney disease 2 | 191845 | 603860 | UMOD |
| MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS | 605908 | 604004 | MLC1 |
| MELAS syndrome | 0 | 540000 | mit |
| METACHROMATIC LEUKODYSTROPHY | 0 | 250100 | ARSA |
| Methylmalonic aciduria and homocystinuria, cbIF type | 612625 | 277380 | LMBRD1 |
| Migraine, familial hemiplegic, 3 (FHM3) | 182389 | 609634 | SCN1A |
| Miller-Dieker syndrome | 0 | 247200 | 17p13.3 |
| Mitochondrial DNA Deletion Syndrome Type 5 | 603921 | 612073 | SUCLA2 |
| MODY 1 | 600281 | 606391 | HNF4A |
| MODY 2 | 138079 | 125851 | GCK |
| MODY 3 | 0 | 600496 | TCF1 |
| MODY 4 | 600733 | 606392 | IPF1 |
| MODY 5 | 189907 | 137920 | HNF1B |
| MODY 6 | 606394 | 0 | NeuroD1 |
| Morbus Osler | 0 | 0 | ENG, ALK1 |
| Mowat-Wilson | 605802 | 235730 | ZFHX1B |
| MTHFR deficiency | 607093 | 236250 | MTHFR |
| Mucopolysaccharidosis type 1 (Hurler-Scheie syndrome) | 252800 | 607015 | IDUA |
| MUCOPOLYSACCHARIDOSIS TYPE IVA | 612222 | 253000 | GALNS |
| Muenke syndrome | 134934 | 602849 | FGFR3 |
| Mulibrey nanism | 605073 | 605073 | TRIM37 |
| MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA (MCUL) | 136850 | 606812 | FH |
| Multiple endocrine Neoplasia, type 2A | 0 | 171400 | RET |
| Multiple endocrine Neoplasia, type 2B | 0 | 162300 | RET |
| Multiples Pterygium syndrome | 100690 | 0 | CHRNA1 |
| Multiples Pterygium syndrome | 100730 | 0 | CHRNG |
| Muscle-eye-brain disease (MEB) | 606822 | 253280 | POMGNT1 |
| Muscular dystrophy Becker (BMD) | 300377 | 300376 | BMD |
| Muscular dystrophy Duchenne (DMD) | 0 | 310200 | DMD |
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A; LGMD1A | 604103 | 159000 | MYOT |
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B | 150330 | 159001 | LMNA |
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C; LGMD1C | 601253 | 607801 | CAV3 |
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A | 114240 | 253600 | CAPN3 |
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B | 603009 | 253601 | DYSF |
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C | 608896 | 253700 | SGCG |
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D | 600119 | 608099 | SGCA |
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E | 600900 | 604286 | SGCB |
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F | 601411 | 601411 | SGCD |
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; LGMD2I | 606596 | 607155 | FKRP |
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K; LGMD2K | 607423 | 609308 | POMT1 |
| Myasthenic syndrome, asso. with acetycholinreceptor deficiency | 601592 | 608931 | RAPSN |
| Myasthenic syndrome, asso. with episodic apnea | 118490 | 254210 | CHAT |
| MYASTHENIC SYNDROME, CONGENITAL | 100725 | 608931 | CHRNE |
| MYOADENYLATE DEAMINASE DEFICIENCY | 0 | 102770 | AMPD1 |
| Myoclonic epilepsy juvenile susceptibility to | 608815 | 254770 | EFHC1 |
| Myoclonic epilepsy with red ragged fibers (MERRF) | 0 | 545000 | MTTK |
| Myotonia congenita Becker (Myotonia autosomal recessive) | 118425 | 255700 | CLCN1 |
| Myotonia congenita Thomson (Myotonia autosomal dominant) | 118425 | 160800 | CLCN1 |
| NARP syndrome | 0 | 551500 | MTATP6 |
| NEUROAXONAL DYSTROPHY, INFANTILE | 605630 | 256600 | PLA2G6 |
| NEUROFIBROMATOSIS TYPE 1-LIKE SYNDROME; NFLS, Legius syndrome | 611431 | 609291 | SPRED1 |
| Neurofibromatosis Type II | 607379 | 0 | NF2 |
| NEUROFIBROMATOSIS, TYPE I | 613113 | 162200 | NF1 |
| Neuropathy, hereditare sensory and autonomic, type II (HSAN2) | 605232 | 201300 | HSN2 |
| Neuropathy, hereditary sensory and autonomic, HSAN1 | 0 | 0 | HSN1(=SPTLC1) |
| NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V; HSAN5 | 162030 | 608654 | NGFB= NGF |
| Neuropathy, hereditary, with liability to pressure palsies (HNPP) | 601097 | 162500 | PMP22 |
| NEUTROPENIA, SEVERE CONGENITAL | 0 | 300299 | WAS |
| Neutropenia, severe congenital, x-linked (XLN) | 0 | 300299 | WAS |
| Niiemann Pick disease NPC1 | 607107 | 257220 | NPC1 |
| Niiemann Pick disease NPC2 | 601015 | 607625 | NPC2 |
| Noonan syndrome (NS1) | 190070 | 163950 | KRAS |
| Noonan syndrome (NS1) | 176876 | 163950 | PTPN11 |
| Noonan syndrome (NS1) | 164760 | 611553 | RAF1 |
| Noonan syndrome (NS1) | 182530 | 163950 | SOS1 |
| Obesity, morbid | 601007 | 0 | LEPR |
| Obesity, severe | 164160 | 0 | LEP |
| Oculopharyngeale muskeldystrophy | 164300 | 0 | PABP2 |
| Oligodontia | 142983/604025/167416 | 0 | MSX1, Axin2, Pax9 |
| Ophthalmoplegia, progressive external | 174763 | 0 | POLG1 |
| Ophthalmoplegia, progressive external type 3 | 606075 | 609286 | C10ORF2, twinkle |
| Opitz syndrome | 300552 | 300000 | MID1 |
| Osteogenesis imperfecta | 120150/120160 | 0 | COL1A1/COL1A2 |
| PAI | 0 | 173360 | PAI |
| Pancreatitis, hereditary (PCTT) | 606709 | 167800 | PRSS1 |
| Pancreatitis, hereditary (PCTT) | 167790 | 167800 | SPINK1 |
| Paramyotonia congenita | 603967 | 168300 | SCN4A |
| Parkinson disease 2 (PARK2) | 602544 | 600116 | PARK2 |
| Parkinson disease 8 (PARK8) | 609007 | 607060 | LRRK2 |
| Partington syndrome | 300382 | 309510 | ARX |
| Pelizaeus Merzbacher | 300401 | 0 | PLP1 |
| Periodic Fever, familial, autosomal-dominant | 191190 | 142680 | TNFRSF1A |
| Permanent Neonatal Diabetes Mellitus (PNDM), KCNJ11-Related | 600937 | 606176 | KCNJ11 |
| Permanent Neonatal Diabetes Mellitus (PNDM), NEUROD1 | 606394 | 0 | NEUROD1 |
| Petras anomaly | 601771 | 604229 | CYP1B1 |
| Petras-Plus syndrome | 0 | 261540 | B3GALTL |
| Peutz-Jeghers syndrome (PJS) | 0 | 175200 | 0 |
| Pfeiffer syndrome | 0 | 101600 | FGFR1 |
| Pfeiffer syndrome | 176943 | 101600 | FGFR2 |
| Pitt-Hopkins syndrome | 602272 | 0 | TCF4 |
| Pituary hormone deficiency | 601802 | 262600 | HESX1 |
| Pituary hormone deficiency | 173110 | 262600 | PIT1 = POU1F1 |
| Pituary hormone deficiency | 601538 | 262600 | PROP1 |
| Porphyria, acute intermittent | 609806 | 176000 | HMBS |
| Porphyria, CONGENITAL ERYTHROPOIETIC | 606938 | 0 | UROS |
| Prader-Willi syndrome (PW) | 0 | 176270 | 15q11-q13 |
| Progressive pseudorheumatoid arthropathy of childhood (PPAC) | 603400 | 208230 | WISP3 |
| Propionicacidemia | 232000 | 606054 | PCCA |
| Propionicacidemia | 232050 | 606054 | PCCB |
| prph2 | 139320 | 174800 | GNAS |
| Pseudoachondroplasia (PSACH) | 0 | 177170 | COMP |
| PSEUDOHYPOALDOSTERONISM, TYPE I | 600983 | 177735 | NR3C2 |
| Pyridoxamine-5′-Phospahte Oxidase Deficiency | 603287 | 610090 | PNPO |
| Refsum disease | 602026 | 266500 | PHYH |
| Retinitis pigmentosa 1 (RP1) | 0 | 180100 | RP1 |
| Retinitis pigmentosa 13 (RP13) | 0 | 600059 | PRPF8 |
| Retinitis pigmentosa 14 (RP14) | 179605 | 600132 | PRPH2 |
| Retinitis pigmentosa 18 (RP18) | 607301 | 601414 | HPRP3 |
| Retinitis pigmentosa 3 (RP3) X-linked | 312610 | 300029 | RPGR |
| Retinitis pigmentosa 4 (RP4) | 0 | 180380 | RHO |
| Retinoschisis1, X-linked, juvenile (RS1) | 601966 | 312700 | RS1 |
| Rett syndrome (RTT) | 300005 | 312750 | MECP2 |
| Rett-like syndrome | 300203 | 0 | CDKL5 |
| Rickets, Vitamin D-dependent | 609506 | 264700 | CYP27B1 |
| Rickets, vitamin D-resistant, type IIA | 0 | 0 | VDR |
| Rieger syndrome (RIEG1) | 601542 | 180500 | PITX2 |
| Robinow syndrome | 268310 | 602337 | ROR2 |
| Rubinstein-Taybi syndrome (RSTS) | 600140 | 600140 | CREBBP |
| Sanfillippo syndrome (Mucopolysaccharidosis type IIIB) | 609701 | 252920 | NAGLU |
| SCHAD deficiency (HADH deficiency) | 600890 | 231530 | HADH |
| Schinzel phocomelia (Al-Awadi-Raas-Rothschild syndrome) | 601570 | 276820 | WNT7A |
| Sebastian syndrome | 160775 | 605249 | MYH9 |
| Seizures, benign familial neonatal-infantile | 182390 | 607745 | SCN2A |
| Septooptic Dysplasia (SOD) | 601802 | 182230 | HESX1 |
| Sever myoclonic epilepsy of infancy (SMEI) | 182389 | 607208 | SCN1A |
| Silver-Russell-Syndrome | 0 | 0 | 0 |
| Simpson-Golabi-Behmel syndrome (SGBS1) | 300037 | 312870 | GPC3 |
| Smith-Lemli-Opitz syndrome | 602858 | 270400 | DHCR7 |
| Smith-Magenis syndrome (SMS) | 606586 | 182290 | 17p11.2; RAI1 |
| Sotos syndrome | 606681 | 117550 | NSD1 |
| Spastic Paraplegia 11 (SPG11) | 0 | 0 | SPG11 |
| Spastic Paraplegia 2 (SPG2) | 0 | 0 | PLP1 |
| Spastic Paraplegia 3A (SPG3A) | 606439 | 182600 | SPG3A |
| Spastic Paraplegia 4 (SPG4) | 604277 | 182601 | SPG4 |
| Spastic Paraplegia 7 (SPG7) | 602783 | 607259 | SPG7 |
| Spermatogenic failure, nonobstructive, Y-linked | 0 | 415000 | AZF |
| Spherocytosis, type 4 | 0 | 612653 | SLC4A1 |
| Spina bifida | 610132 | 182940 | VANGL1 |
| Spina bifida | 600533 | 182940 | VANGL2 |
| Spinal and bulbar muscular atrophy, Kennedy disease (SMAX1) | 0 | 313200 | AR |
| Spinal muscular atrophy, type1 (SMA1) | 600354 | 253300 | SMN1 |
| Spinal muscular atrophy, type2 (SMA2) | 600354 | 253550 | <+ |
| Spinal muscular atrophy, type3 (SMA3) | 600354 | 253400 | SMN1 |
| Spinocerebellar Ataxia 1 (SCA1) | 601556 | 164400 | ATXN1 |
| Spinocerebellar Ataxia 11 (SCA11) | 611695 | 604432 | TTBK2 |
| Spinocerebellar Ataxia 12 (SCA12) | 604325 | 604326 | PPP2R2B |
| Spinocerebellar Ataxia 13 (SCA13) | 176264 | 605259 | KCNC3 |
| Spinocerebellar Ataxia 14 (SCA14) | 176980 | 605361 | PRKCG |
| Spinocerebellar Ataxia 17 (SCA17) | 600075 | 607136 | TBP |
| Spinocerebellar Ataxia 2 (SCA2) | 601517 | 183090 | ATXN2 |
| Spinocerebellar Ataxia 3 (Machado-Joseph, SCA3) | 607047 | 109150 | ATXN3 |
| Spinocerebellar Ataxia 6 (SCA6) | 601011 | 183086 | CACNA1A |
| Spinocerebellar Ataxia 8 (SCA8) | 603680 | 608768 | ATXN8OS |
| Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive (SCAN1) | 607198 | 607250 | TDP1 |
| Stuve-Wiedemann | 151443 | 601559 | LIFR |
| subtelomeric screening | 0 | div | 0 |
| Swyer syndrome | 480000 | 400044 | SRY |
| Thanatophoric dysplasia (TD1) | 134934 | 187600 | FGFR3 |
| THIOPURINE S-METHYLTRANSFERASE DEFICIENCY | 187680 | 610460 | TPMT |
| Thrombasthenia (Glanzmann and Naegli) | 0 | 0 | ITGB3 |
| THROMBOCYTOPENIA 1 | 300392 | 313900 | WAS |
| Thrombocytopenia 1 (THC1) | 300392 | 313900 | WAS |
| THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC | 191315 | 155240 | NTRK1 |
| Thyroid Dyshomogenesis | 601843 | 274400 | SLC5A5 |
| Townes-Brokes syndrome | 602218 | 107480 | SALL1 |
| Treacher Collins-Franceschatti syndrome (TCOF) | 606847 | 154500 | TCOF1 |
| Triorhinophalangeal syndrome I+II (see Langer-Giedion) | 0 | 0 | 0 |
| TUBEROUS SCLEROSIS | 605284 | 191100 | TSC1 |
| TUBEROUS SCLEROSIS | 191092 | 191100 | TSC2 |
| Usher Syndrome 1B | 0 | 0 | Myo7A |
| Vas deferens, congenital bilateral aplasia of (CBAVD) | 602421 | 277180 | CFTR |
| Von Hippel-Lindau syndrome (VHL) | 608537 | 193300 | VHL |
| West syndrome | 300382 | 308350 | ARX |
| Williams-Beuren syndrome (WBS) | 0 | 194050 | 7q11.2 |
| Wilson disease | 606882 | 277900 | ATP7B |
| Wiskott-Aldrich syndrome (WAS) | 300392 | 301000 | WAS |
| XLAG syndrome | 300382 | 300215 | ARX |