| Diagnosis | Omim Number | Sample Count |
| ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND CRYPTORCHIDISM | 100100 | 1 |
| ABETALIPOPROTEINEMIA; ABL | 200100 | 3 |
| ACHONDROGENESIS; TYPE 1 - 200600; TYPE 2 - 200610; OR GREBE TYPE - 200700 | 200600 | 1 |
| ACHONDROGENESIS; TYPE 1 - 200600; TYPE 2 - 200610; OR GREBE TYPE - 200700 | 200610 | 1 |
| ACHONDROGENESIS; TYPE 1 - 200600; TYPE 2 - 200610; OR GREBE TYPE - 200700 | 200700 | 1 |
| ACHONDROPLASIA; ACH | 100800 | 7 |
| ACHROMATOPSIA 2; ACHM2 | 216900 | 1 |
| ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ | 201100 | 2 |
| ACUTE LYMPHOCYTIC LEUKEMIA | 187040 | 7 |
| ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF | 201460 | 4 |
| ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF | 201450 | 13 |
| ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF | 201470 | 4 |
| ACYL-CoA DEHYDROGENASE, SHORT/BRANCHED CHAIN; ACADSB | 600301 | 1 |
| ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF | 201475 | 1 |
| ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT 2,8-@DIHYDROXYADENINE UROLITHIASIS, INCLUDED | 102600 | 11 |
| ADENOMATOUS POLYPOSIS OF THE COLON; APC | 175100 | 44 |
| ADENOSINE DEAMINASE DEFICIENCY WITH NO IMMUNODEFICIENCY | | 8 |
| ADENOSINE MONOPHOSPHATE DEAMINASE 1; AMPD1 | 102770 | 6 |
| ADENYLATE KINASE 1; AK1 | 103000 | 1 |
| ADRENAL HYPERPLASIA II | 201810 | 2 |
| ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY | 201910 | 7 |
| ADRENAL HYPOPLASIA WITH ADDITIONAL CONGENITAL MALFORMATIONS | 300200 | 5 |
| ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM | 202370 | 8 |
| ADRENOLEUKODYSTROPHY; ALD | 300100 | 17 |
| ALAGILLE SYNDROME; AGS | 118450 | 13 |
| ALBINISM, OCULOCUTANEOUS, TYPE 1A; OCA1A | 203100 | 4 |
| ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2 | 203200 | 2 |
| ALBINISM: TYPE UNKNOWN | | 2 |
| ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO | 103580 | 5 |
| ALBUMIN; ALB DYSALBUMINEMIC HYPERTHYROXINEMIA, INCLUDED | 103600 | 1 |
| ALEXANDER DISEASE | 203450 | 3 |
| ALKAPTONURIA | 203500 | 1 |
| ALLERGIC ASTHMATIC | | 1 |
| ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS | 203700 | 2 |
| ALZHEIMER DISEASE; AD | 104300 | 2 |
| AMAUROSIS CONGENITA OF LEBER; TYPE I OR II - 204000 OR 204100 | 204000 | 4 |
| AMAUROSIS CONGENITA OF LEBER; TYPE I OR II - 204000 OR 204100 | 204100 | 4 |
| AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1 | 105400 | 9 |
| ANDROGEN RECEPTOR; AR | 313700 | 10 |
| ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC | | 41 |
| ANEUPLOID CHROMOSOME NUMBER - TRISOMY | | 20 |
| ANEUPLOID CHROMOSOME NUMBER - TRISOMY 13 | | 4 |
| ANEUPLOID CHROMOSOME NUMBER - TRISOMY 18 | | 9 |
| ANEUPLOID CHROMOSOME NUMBER - TRISOMY 8 | | 5 |
| ANEUPLOID CHROMOSOME NUMBER - TRISOMY 9 | | 10 |
| ANGELMAN SYNDROME; AS | 105830 | 12 |
| ANIRIDIA, GENITOURINARY ABNORMALITIES, & VASCULITIS | | 1 |
| ANIRIDIA: TYPES 1 OR 2 - 106200 OR 106210 | 106200 | 5 |
| ANIRIDIA: TYPES 1 OR 2 - 106200 OR 106210 | 106210 | 5 |
| ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE | 106260 | 1 |
| APERT SYNDROME | 101200 | 2 |
| APOLIPOPROTEIN C-II DEFICIENCY, TYPE I HYPERLIPOPROTEINEMIA DUE TO | 207750 | 1 |
| ARGININEMIA | 207800 | 5 |
| ARGININOSUCCINICACIDURIA | 207900 | 7 |
| ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY | 208000 | 6 |
| ASPARTYLGLUCOSAMINURIA | 208400 | 7 |
| ASPHYXIATING THORACIC DYSTROPHY; ATD | 208500 | 2 |
| ATAXIA-TELANGIECTASIA; AT | 208900 | 204 |
| ATP SYNTHASE 6; MTATP6 | 516060 | 1 |
| ATRANSFERRINEMIA | 209300 | 5 |
| ATRIOVENTRICULAR SEPTAL DEFECT; AVSD | 600309 | 5 |
| AZOOSPERMIA FACTOR C | 415000 | 12 |