| 264300 | 17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY | 1 | |
| 300438 | 17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY | 1 | |
| 204750 | 2-@AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD | 1 | |
| 610006 | 2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY | 1 | |
| 201810 | 3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF | 1 | |
| 246450 | 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY; HMGCLD | 1 | |
| 605911 | 3-@HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE 2 DEFICIENCY | 1 | |
| 231530 | 3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY | 1 | |
| 210200 | 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY | 1 | |
| 210210 | 3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY | 1 | |
| 614739 | 3-@METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE | 1 | |
| 250950 | 3-@METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1 | 1 | |
| 258501 | 3-@METHYLGLUTACONIC ACIDURIA, TYPE III; MGCA3 | 1 | |
| 610198 | 3-@METHYLGLUTACONIC ACIDURIA, TYPE V; MGCA5 | 1 | |
| 257920 | 3MC SYNDROME 1; 3MC1 | 1 | |
| 265050 | 3MC SYNDROME 2; 3MC2 | 1 | |
| 400045 | 46,XX SEX REVERSAL 1; SRXX1 | 1 | |
| 278850 | 46,XX SEX REVERSAL 2; SRXX2 | 1 | |
| 300833 | 46,XX SEX REVERSAL 3; SRXX3 | 1 | |
| 611812 | 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS; | 1 | |
| 607080 | 46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY | 1 | |
| 400044 | 46,XY SEX REVERSAL 1; SRXY1 | 1 | |
| 300018 | 46,XY SEX REVERSAL 2; SRXY2 | 1 | |
| 612965 | 46,XY SEX REVERSAL 3; SRXY3 | 1 | |
| 613080 | 46,XY SEX REVERSAL 5; SRXY5 | 1 | |
| 613762 | 46,XY SEX REVERSAL 6; SRXY6 | 1 | |
| 233420 | 46,XY SEX REVERSAL 7; SRXY7 | 1 | |
| 614279 | 46,XY SEX REVERSAL 8; SRXY8 | 1 | |
| 260005 | 5-@OXOPROLINASE DEFICIENCY; OPLAHD | 1 | |
| 305400 | AARSKOG-SCOTT SYNDROME; AAS | 1 | |
| 600501 | ABCD SYNDROME; ABCDS | 1 | |
| 100100 | ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND | 1 | |
| 605552 | ABDOMINAL OBESITY-METABOLIC SYNDROME | 1 | |
| 605572 | ABDOMINAL OBESITY-METABOLIC SYNDROME QUANTITATIVE TRAIT LOCUS 2 | 1 | |
| 200100 | ABETALIPOPROTEINEMIA; ABL | 1 | |
| 300262 | ABIDI X-LINKED MENTAL RETARDATION SYNDROME; MRXSAB | 1 | |
| 302905 | ABRUZZO-ERICKSON SYNDROME; ABERS | 1 | |
| 614097 | ACATALASEMIA | 1 | |
| 614401 | ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO; ACTFS | 1 | |
| 604290 | ACERULOPLASMINEMIA | 1 | |
| 142700 | ACETABULAR DYSPLASIA | 1 | |
| 614055 | ACETYL-CoA ACETYLTRANSFERASE-2 DEFICIENCY; ACAT2D | 1 | |
| 613933 | ACETYL-CoA CARBOXYLASE DEFICIENCY; ACACAD | 1 | |
| 243400 | ACETYLATION, SLOW | 1 | |
| 231550 | ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAAS | 1 | |
| 200500 | ACHEIROPODY | 1 | |
| 200600 | ACHONDROGENESIS, TYPE IA; ACG1A | 1 | |
| 600972 | ACHONDROGENESIS, TYPE IB; ACG1B | 1 | |
| 200610 | ACHONDROGENESIS, TYPE II; ACG2 | 1 | |
| 100800 | ACHONDROPLASIA; ACH | 1 | |
| 216900 | ACHROMATOPSIA 2; ACHM2 | 1 | |
| 262300 | ACHROMATOPSIA 3; ACHM3 | 1 | |
| 613856 | ACHROMATOPSIA 4; ACHM4 | 1 | |
| 200950 | ACID PHOSPHATASE DEFICIENCY | 1 | |
| 142690 | ACNE INVERSA, FAMILIAL, 1; ACNINV1 | 1 | |
| 613736 | ACNE INVERSA, FAMILIAL, 2; ACNINV2 | 1 | |
| 613737 | ACNE INVERSA, FAMILIAL, 3; ACNINV3 | 1 | |
| 200990 | ACROCALLOSAL SYNDROME; ACLS | 1 | |
| 607778 | ACROCAPITOFEMORAL DYSPLASIA; ACFD | 1 | |
| 201100 | ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ | 1 | |
| 101800 | ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1 | 1 | |
| 614613 | ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS2 | 1 | |
| 154400 | ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1 | 1 | |
| 101900 | ACROKERATOSIS VERRUCIFORMIS; AKV | 1 | |
| 606049 | ACROMEGALOID FEATURES, OVERGROWTH, CLEFT PALATE, AND HERNIA | 1 | |
| 201250 | ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE | 1 | |
| 602875 | ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM | 1 | |
| 102370 | ACROMICRIC DYSPLASIA; ACMICD | 1 | |
| 605967 | ACROPECTORAL SYNDROME; ACRPS | 1 | |
| 102510 | ACROPECTOROVERTEBRAL DYSPLASIA; ACRPV | 1 | |
| 201400 | ACTH DEFICIENCY, ISOLATED; IAD | 1 | |
| 219080 | ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH | 1 | |
| 601676 | ACUTE INSULIN RESPONSE | 1 | |
| 612376 | ACUTE PROMYELOCYTIC LEUKEMIA; APL | 1 | |
| 611126 | ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF | 1 | |
| 201450 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | 1 | |
| 201470 | ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD | 1 | |
| 201475 | ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD | 1 | |
| 100300 | ADAMS-OLIVER SYNDROME 1; AOS1 | 1 | |
| 614219 | ADAMS-OLIVER SYNDROME 2; AOS2 | 1 | |
| 614814 | ADAMS-OLIVER SYNDROME 3; AOS3 | 1 | |
| 615297 | ADAMS-OLIVER SYNDROME 4; AOS4 | 1 | |
| 614723 | ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; APRTD | 1 | |
| 102900 | ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES | 1 | |
| 612631 | ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO | 1 | |
| 103050 | ADENYLOSUCCINASE DEFICIENCY | 1 | |
| 136000 | ADERMATOGLYPHIA; ADERM | 1 | |
| 612556 | ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; ADIPQTL1 | 1 | |
| 606770 | ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2; ADIPQTL2 | 1 | |
| 606771 | ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3; ADIPQTL3 | 1 | |
| 612629 | ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 4; ADIPQTL4 | 1 | |
| 613836 | ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 5; ADIPQTL5 | 1 | |
| 202110 | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY | 1 | |
| 201910 | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY | 1 | |
| 202010 | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE | 1 | |
| 300200 | ADRENAL HYPOPLASIA, CONGENITAL; AHC | 1 | |
| 613743 | ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL | 1 | |
| 202300 | ADRENOCORTICAL CARCINOMA, HEREDITARY; ADCC | 1 | |
| 300100 | ADRENOLEUKODYSTROPHY; ALD | 1 | |
| 103285 | ADULT SYNDROME | 1 | |
| 604348 | ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1; FASPS1 | 1 | |
| 615224 | ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2; FASPS2 | 1 | |
| 202400 | AFIBRINOGENEMIA, CONGENITAL | 2 | |
| 601495 | AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE; AGM1 | 1 | |
| 613500 | AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE; AGM2 | 1 | |
| 613501 | AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE; AGM3 | 1 | |
| 613502 | AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE; AGM4 | 1 | |
| 613506 | AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT; AGM5 | 1 | |
| 612692 | AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE; AGM6 | 1 | |
| 615214 | AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE; AGM7 | 1 | |
| 300310 | AGAMMAGLOBULINEMIA, X-LINKED, TYPE 2; AGMX2 | 1 | |
| 300755 | AGAMMAGLOBULINEMIA, X-LINKED; XLA | 1 | |
| 612448 | AGE-RELATED HEARING IMPAIRMENT 1; ARHI1 | 1 | |
| 612976 | AGE-RELATED HEARING IMPAIRMENT 2; ARHI2 | 1 | |
| 218000 | AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN | 1 | |
| 202650 | AGNATHIA-OTOCEPHALY COMPLEX; AGOTC | 1 | |
| 608688 | AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY | 1 | |
| 304050 | AICARDI SYNDROME; AIC | 1 | |
| 225750 | AICARDI-GOUTIERES SYNDROME 1; AGS1 | 1 | |
| 610181 | AICARDI-GOUTIERES SYNDROME 2; AGS2 | 1 | |
| 610329 | AICARDI-GOUTIERES SYNDROME 3; AGS3 | 1 | |
| 610333 | AICARDI-GOUTIERES SYNDROME 4; AGS4 | 1 | |
| 612952 | AICARDI-GOUTIERES SYNDROME 5; AGS5 | 1 | |
| 615010 | AICARDI-GOUTIERES SYNDROME 6; AGS6 | 1 | |
| 615510 | ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME; AAMR | 1 | |
| 118450 | ALAGILLE SYNDROME 1; ALGS1 | 1 | |
| 610205 | ALAGILLE SYNDROME 2; ALGS2 | 1 | |
| 300600 | ALAND ISLAND EYE DISEASE; AIED | 1 | |
| 615071 | ALAZAMI SYNDROME; ALAZS | 1 | |
| 300500 | ALBINISM, OCULAR, TYPE I; OA1 | 1 | |
| 300650 | ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS; OASD | 1 | |
| 103470 | ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS | 2 | |
| 203100 | ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A | 1 | |
| 606952 | ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B | 1 | |
| 203200 | ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2 | 2 | |
| 203290 | ALBINISM, OCULOCUTANEOUS, TYPE III; OCA3 | 1 | |
| 606574 | ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4 | 1 | |
| 615312 | ALBINISM, OCULOCUTANEOUS, TYPE V; OCA5 | 1 | |
| 615179 | ALBINISM, OCULOCUTANEOUS, TYPE VII; OCA7 | 1 | |
| 300700 | ALBINISM-DEAFNESS SYNDROME; ADFN | 1 | |
| 103780 | ALCOHOL DEPENDENCE | 6 | |
| 610251 | ALCOHOL SENSITIVITY, ACUTE | 1 | |
| 203450 | ALEXANDER DISEASE | 1 | |
| 171720 | ALKALINE PHOSPHATASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 | 1 | |
| 612367 | ALKALINE PHOSPHATASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 2 | 1 | |
| 612368 | ALKALINE PHOSPHATASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 3 | 1 | |
| 612369 | ALKALINE PHOSPHATASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 4 | 1 | |
| 203500 | ALKAPTONURIA | 1 | |
| 300523 | ALLAN-HERNDON-DUDLEY SYNDROME; AHDS | 1 | |
| 607154 | ALLERGIC RHINITIS | 1 | |
| 104000 | ALOPECIA AREATA 1 | 1 | |
| 610753 | ALOPECIA AREATA 2 | 1 | |
| 203655 | ALOPECIA UNIVERSALIS CONGENITA; ALUNC | 1 | |
| 109200 | ALOPECIA, ANDROGENETIC, 1; AGA1 | 1 | |
| 300710 | ALOPECIA, ANDROGENETIC, 2; AGA2 | 1 | |
| 612421 | ALOPECIA, ANDROGENETIC, 3; AGA3 | 1 | |
| 612079 | ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME | 1 | |
| 203650 | ALOPECIA-MENTAL RETARDATION SYNDROME 1; APMR1 | 1 | |
| 610422 | ALOPECIA-MENTAL RETARDATION SYNDROME 2; APMR2 | 1 | |
| 613930 | ALOPECIA-MENTAL RETARDATION SYNDROME 3; APMR3 | 1 | |
| 613490 | ALPHA-1-ANTITRYPSIN DEFICIENCY | 1 | |
| 614036 | ALPHA-2-MACROGLOBULIN DEFICIENCY; A2MD | 1 | |
| 262850 | ALPHA-2-PLASMIN INHIBITOR DEFICIENCY | 1 | |
| 203740 | ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY | 1 | |
| 203750 | ALPHA-METHYLACETOACETIC ACIDURIA | 1 | |
| 614307 | ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY; AMACRD | 1 | |
| 604131 | ALPHA-THALASSEMIA | 2 | |
| 300448 | ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS | 1 | |
| 141750 | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED | 1 | |
| 301040 | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX | 1 | |
| 609889 | ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE | 1 | |
| 104200 | ALPORT SYNDROME, AUTOSOMAL DOMINANT | 1 | |
| 203780 | ALPORT SYNDROME, AUTOSOMAL RECESSIVE | 2 | |
| 301050 | ALPORT SYNDROME, X-LINKED; ATS | 1 | |
| 203800 | ALSTROM SYNDROME; ALMS | 1 | |
| 104290 | ALTERNATING HEMIPLEGIA OF CHILDHOOD 1; AHC1 | 1 | |
| 614820 | ALTERNATING HEMIPLEGIA OF CHILDHOOD 2; AHC2 | 1 | |
| 265380 | ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS; | 1 | |
| 606243 | ALVEOLAR SOFT PART SARCOMA; ASPS | 1 | |
| 609636 | ALZHEIMER DISEASE 10 | 1 | |
| 609790 | ALZHEIMER DISEASE 11 | 1 | |
| 611073 | ALZHEIMER DISEASE 12 | 1 | |
| 611152 | ALZHEIMER DISEASE 13; AD13 | 1 | |
| 611154 | ALZHEIMER DISEASE 14; AD14 | 1 | |
| 611155 | ALZHEIMER DISEASE 15; AD15 | 1 | |
| 300756 | ALZHEIMER DISEASE 16; AD16 | 1 | |
| 615080 | ALZHEIMER DISEASE 17; AD17 | 1 | |
| 104310 | ALZHEIMER DISEASE 2 | 1 | |
| 607822 | ALZHEIMER DISEASE 3 | 1 | |
| 606889 | ALZHEIMER DISEASE 4 | 2 | |
| 602096 | ALZHEIMER DISEASE 5 | 1 | |
| 605526 | ALZHEIMER DISEASE 6 | 1 | |
| 606187 | ALZHEIMER DISEASE 7 | 1 | |
| 607116 | ALZHEIMER DISEASE 8 | 1 | |
| 608907 | ALZHEIMER DISEASE 9 | 1 | |
| 104300 | ALZHEIMER DISEASE; AD | 11 | |
| 604498 | AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL; CAMT | 1 | |
| 614253 | AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME; AIGFS | 1 | |
| 204700 | AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA1; AI2A1 | 1 | |
| 612529 | AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2; AI2A2 | 1 | |
| 613211 | AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3; AI2A3 | 1 | |
| 614832 | AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4; AI2A4 | 1 | |
| 301201 | AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 2 | 1 | |
| 104500 | AMELOGENESIS IMPERFECTA, TYPE IB; AI1B | 1 | |
| 204650 | AMELOGENESIS IMPERFECTA, TYPE IC; AI1C | 1 | |
| 301200 | AMELOGENESIS IMPERFECTA, TYPE IE; AI1E | 1 | |
| 130900 | AMELOGENESIS IMPERFECTA, TYPE III; AI3 | 1 | |
| 104510 | AMELOGENESIS IMPERFECTA, TYPE IV; AI4 | 1 | |
| 609924 | AMINOACYLASE 1 DEFICIENCY | 1 | |
| 609056 | AMISH INFANTILE EPILEPSY SYNDROME | 1 | |
| 300194 | AMME COMPLEX | 1 | |
| 105200 | AMYLOIDOSIS, FAMILIAL VISCERAL | 3 | |
| 105120 | AMYLOIDOSIS, FINNISH TYPE | 1 | |
| 105210 | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED | 1 | |
| 105250 | AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1; PLCA1 | 1 | |
| 613955 | AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2; PLCA2 | 1 | |
| 612069 | AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; | 1 | |
| 612577 | AMYOTROPHIC LATERAL SCLEROSIS 11; ALS11 | 1 | |
| 613435 | AMYOTROPHIC LATERAL SCLEROSIS 12; ALS12 | 1 | |
| 613954 | AMYOTROPHIC LATERAL SCLEROSIS 14, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; | 1 | |
| 300857 | AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; | 1 | |
| 614373 | AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE; ALS16 | 1 | |
| 614696 | AMYOTROPHIC LATERAL SCLEROSIS 17; ALS17 | 1 | |
| 614808 | AMYOTROPHIC LATERAL SCLEROSIS 18; ALS18 | 1 | |
| 615515 | AMYOTROPHIC LATERAL SCLEROSIS 19; ALS19 | 1 | |
| 105400 | AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1 | 4 | |
| 205100 | AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2 | 1 | |
| 615426 | AMYOTROPHIC LATERAL SCLEROSIS 20; ALS20 | 1 | |
| 606640 | AMYOTROPHIC LATERAL SCLEROSIS 3; ALS3 | 1 | |
| 602433 | AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE; ALS4 | 1 | |
| 602099 | AMYOTROPHIC LATERAL SCLEROSIS 5; ALS5 | 1 | |
| 608030 | AMYOTROPHIC LATERAL SCLEROSIS 6, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; | 1 | |
| 608031 | AMYOTROPHIC LATERAL SCLEROSIS 7; ALS7 | 1 | |
| 608627 | AMYOTROPHIC LATERAL SCLEROSIS 8; ALS8 | 1 | |
| 611895 | AMYOTROPHIC LATERAL SCLEROSIS 9; ALS9 | 1 | |
| 105500 | AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 | 1 | |
| 162100 | AMYOTROPHY, HEREDITARY NEURALGIC; HNA | 1 | |
| 105580 | ANAL CANAL CARCINOMA | 1 | |
| 105563 | ANAL SPHINCTER DYSPLASIA; ASDP | 1 | |
| 607095 | ANAUXETIC DYSPLASIA | 1 | |
| 170390 | ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS | 1 | |
| 300068 | ANDROGEN INSENSITIVITY SYNDROME; AIS | 1 | |
| 312300 | ANDROGEN INSENSITIVITY, PARTIAL; PAIS | 1 | |
| 224120 | ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE I; CDAN1 | 1 | |
| 224100 | ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; CDAN2 | 1 | |
| 105600 | ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE III; CDAN3 | 1 | |
| 613673 | ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV; CDAN4 | 1 | |
| 206100 | ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1; AHMIO1 | 1 | |
| 615234 | ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2; AHMIO2 | 1 | |
| 300908 | ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY | 1 | |
| 301310 | ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT | 1 | |
| 205950 | ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE | 2 | |
| 300751 | ANEMIA, SIDEROBLASTIC, X-LINKED; XLSA | 1 | |
| 300835 | ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES; | 1 | |
| 612587 | ANEURYSM, INTRACRANIAL BERRY, 10; ANIB10 | 1 | |
| 614252 | ANEURYSM, INTRACRANIAL BERRY, 11; ANIB11 | 1 | |
| 105800 | ANEURYSM, INTRACRANIAL BERRY, 1; ANIB1 | 1 | |
| 608542 | ANEURYSM, INTRACRANIAL BERRY, 2; ANIB2 | 1 | |
| 609122 | ANEURYSM, INTRACRANIAL BERRY, 3; ANIB3 | 1 | |
| 610213 | ANEURYSM, INTRACRANIAL BERRY, 4; ANIB4 | 1 | |
| 300870 | ANEURYSM, INTRACRANIAL BERRY, 5; ANIB5 | 1 | |
| 611892 | ANEURYSM, INTRACRANIAL BERRY, 6; ANIB6 | 1 | |
| 612161 | ANEURYSM, INTRACRANIAL BERRY, 7; ANIB7 | 1 | |
| 612162 | ANEURYSM, INTRACRANIAL BERRY, 8; ANIB8 | 1 | |
| 612586 | ANEURYSM, INTRACRANIAL BERRY, 9; ANIB9 | 1 | |
| 606179 | ANEURYSMAL BONE CYSTS | 1 | |
| 105830 | ANGELMAN SYNDROME; AS | 3 | |
| 106100 | ANGIOEDEMA, HEREDITARY, TYPE I; HAE1 | 1 | |
| 610618 | ANGIOEDEMA, HEREDITARY, TYPE III; HAE3 | 1 | |
| 300652 | ANGIOMA SERPIGINOSUM, X-LINKED | 1 | |
| 611773 | ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS; | 1 | |
| 614081 | ANHAPTOGLOBINEMIA; AHP | 1 | |
| 206700 | ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL RETARDATION | 1 | |
| 106210 | ANIRIDIA; AN | 2 | |
| 605746 | ANISOMASTIA | 1 | |
| 106250 | ANKYLOBLEPHARON FILIFORME ADNATUM AND CLEFT PALATE; AFA | 1 | |
| 106260 | ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE | 1 | |
| 606788 | ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 1; ANON1 | 1 | |
| 107200 | ANOSMIA, ISOLATED CONGENITAL; ANIC | 1 | |
| 107250 | ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS; ASMD | 1 | |
| 107320 | ANTIPHOSPHOLIPID SYNDROME, FAMILIAL | 1 | |
| 613118 | ANTITHROMBIN III DEFICIENCY; AT3D | 1 | |
| 201750 | ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS; | 1 | |
| 207410 | ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; | 2 | |
| 607834 | ANXIETY | 1 | |
| 100070 | AORTIC ANEURYSM, FAMILIAL ABDOMINAL, 1; AAA1 | 1 | |
| 609782 | AORTIC ANEURYSM, FAMILIAL ABDOMINAL, 2; AAA2 | 1 | |
| 611891 | AORTIC ANEURYSM, FAMILIAL ABDOMINAL, 3; AAA3 | 1 | |
| 614375 | AORTIC ANEURYSM, FAMILIAL ABDOMINAL, 4; AAA4 | 1 | |
| 607086 | AORTIC ANEURYSM, FAMILIAL THORACIC 1; AAT1 | 1 | |
| 607087 | AORTIC ANEURYSM, FAMILIAL THORACIC 2; AAT2 | 1 | |
| 132900 | AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4 | 1 | |
| 611788 | AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6 | 1 | |
| 613780 | AORTIC ANEURYSM, FAMILIAL THORACIC 7; AAT7 | 1 | |
| 615436 | AORTIC ANEURYSM, FAMILIAL THORACIC 8; AAT8 | 1 | |
| 109730 | AORTIC VALVE DISEASE 1; AOVD1 | 1 | |
| 614823 | AORTIC VALVE DISEASE 2; AOVD2 | 1 | |
| 101200 | APERT SYNDROME | 1 | |
| 610256 | APHAKIA, CONGENITAL PRIMARY | 1 | |
| 300887 | APLASIA CUTIS CONGENITA, RETICULOLINEAR, WITH MICROCEPHALY, FACIAL | 1 | |
| 180920 | APLASIA OF LACRIMAL AND SALIVARY GLANDS; ALSG | 1 | |
| 609135 | APLASTIC ANEMIA | 2 | |
| 117800 | APOCRINE GLAND SECRETION, VARIATION IN | 1 | |
| 207750 | APOLIPOPROTEIN C-II DEFICIENCY | 1 | |
| 218030 | APPARENT MINERALOCORTICOID EXCESS; AME | 1 | |
| 207800 | ARGININEMIA | 1 | |
| 207900 | ARGININOSUCCINIC ACIDURIA | 1 | |
| 300261 | ARMFIELD X-LINKED MENTAL RETARDATION SYNDROME; MRXSA | 1 | |
| 613546 | AROMATASE DEFICIENCY | 1 | |
| 139300 | AROMATASE EXCESS SYNDROME; AEXS | 1 | |
| 608643 | AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY | 1 | |
| 610193 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; ARVD10 | 1 | |
| 610476 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11 | 1 | |
| 611528 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12 | 1 | |
| 107970 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1 | 1 | |
| 600996 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2; ARVD2 | 1 | |
| 602086 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 3; ARVD3 | 1 | |
| 602087 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 4; ARVD4 | 1 | |
| 604400 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5; ARVD5 | 2 | |
| 604401 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 6; ARVD6 | 1 | |
| 607450 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8 | 1 | |
| 609040 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; ARVD9 | 1 | |
| 208000 | ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1 | 1 | |
| 614473 | ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2; GACI2 | 1 | |
| 208050 | ARTERIAL TORTUOSITY SYNDROME; ATS | 1 | |
| 108010 | ARTERIOVENOUS MALFORMATIONS OF THE BRAIN | 1 | |
| 208100 | ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE; AMCN | 1 | |
| 300158 | ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED; ACLLX | 1 | |
| 108120 | ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A | 1 | |
| 614335 | ARTHROGRYPOSIS, DISTAL, TYPE 1B; DA1B | 1 | |
| 193700 | ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A | 1 | |
| 601680 | ARTHROGRYPOSIS, DISTAL, TYPE 2B; DA2B | 4 | |
| 609128 | ARTHROGRYPOSIS, DISTAL, TYPE 4; DA4 | 1 | |
| 615065 | ARTHROGRYPOSIS, DISTAL, TYPE 5D; DA5D | 1 | |
| 158300 | ARTHROGRYPOSIS, DISTAL, TYPE 7; DA7 | 1 | |
| 121050 | ARTHROGRYPOSIS, DISTAL, TYPE 9; DA9 | 1 | |
| 208085 | ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1; ARCS1 | 1 | |
| 613404 | ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2; ARCS2 | 1 | |
| 208230 | ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD; PPAC | 1 | |
| 301835 | ARTS SYNDROME; ARTS | 1 | |
| 614419 | ASPARTATE AMINOTRANSFERASE, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS | 1 | |
| 208400 | ASPARTYLGLUCOSAMINURIA; AGU | 1 | |
| 608638 | ASPERGER SYNDROME, SUSCEPTIBILITY TO, 1; ASPG1 | 1 | |
| 608631 | ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2; ASPG2 | 1 | |
| 608781 | ASPERGER SYNDROME, SUSCEPTIBILITY TO, 3; ASPG3 | 1 | |
| 609954 | ASPERGER SYNDROME, SUSCEPTIBILITY TO, 4; ASPG4 | 1 | |
| 300494 | ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1; ASPGX1 | 1 | |
| 300497 | ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2; ASPGX2 | 1 | |
| 614079 | ASPERGILLOSIS, SUSCEPTIBILITY TO | 1 | |
| 208500 | ASPHYXIATING THORACIC DYSTROPHY 1; ATD1 | 1 | |
| 611263 | ASPHYXIATING THORACIC DYSTROPHY 2; ATD2 | 1 | |
| 613091 | ASPHYXIATING THORACIC DYSTROPHY 3; ATD3 | 1 | |
| 613819 | ASPHYXIATING THORACIC DYSTROPHY 4; ATD4 | 1 | |
| 614376 | ASPHYXIATING THORACIC DYSTROPHY 5; ATD5 | 1 | |
| 208550 | ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE | 2 | |
| 600807 | ASTHMA, SUSCEPTIBILITY TO | 13 | |
| 607277 | ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1 | 1 | |
| 608584 | ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2 | 1 | |
| 609958 | ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 3 | 1 | |
| 610906 | ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 4 | 1 | |
| 611064 | ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5 | 1 | |
| 611403 | ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 6 | 1 | |
| 611960 | ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7; ASRT7 | 1 | |
| 613207 | ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 8; ASRT8 | 1 | |
| 208920 | ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; | 1 | |
| 608984 | ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1 | 1 | |
| 615217 | ATAXIA-OCULOMOTOR APRAXIA 3; AOA3 | 1 | |
| 604391 | ATAXIA-TELANGIECTASIA-LIKE DISORDER; ATLD | 1 | |
| 208900 | ATAXIA-TELANGIECTASIA; AT | 1 | |
| 108720 | ATELOSTEOGENESIS, TYPE I; AOI | 1 | |
| 256050 | ATELOSTEOGENESIS, TYPE II; AOII | 1 | |
| 108721 | ATELOSTEOGENESIS, TYPE III; AOIII | 1 | |
| 601536 | ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS | 1 | |
| 108725 | ATHEROSCLEROSIS SUSCEPTIBILITY; ATHS | 1 | |
| 209300 | ATRANSFERRINEMIA | 1 | |
| 614022 | ATRIAL FIBRILLATION, FAMILIAL, 10; ATFB10 | 1 | |
| 614049 | ATRIAL FIBRILLATION, FAMILIAL, 11; ATFB11 | 1 | |
| 614050 | ATRIAL FIBRILLATION, FAMILIAL, 12; ATFB12 | 1 | |
| 615377 | ATRIAL FIBRILLATION, FAMILIAL, 13; ATFB13 | 1 | |
| 615378 | ATRIAL FIBRILLATION, FAMILIAL, 14; ATFB14 | 1 | |
| 608583 | ATRIAL FIBRILLATION, FAMILIAL, 1; ATFB1 | 1 | |
| 608988 | ATRIAL FIBRILLATION, FAMILIAL, 2; ATFB2 | 1 | |
| 607554 | ATRIAL FIBRILLATION, FAMILIAL, 3; ATFB3 | 1 | |
| 611493 | ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB4 | 1 | |
| 611494 | ATRIAL FIBRILLATION, FAMILIAL, 5; ATFB5 | 1 | |
| 612201 | ATRIAL FIBRILLATION, FAMILIAL, 6; ATFB6 | 1 | |
| 612240 | ATRIAL FIBRILLATION, FAMILIAL, 7; ATFB7 | 1 | |
| 613055 | ATRIAL FIBRILLATION, FAMILIAL, 8; ATFB8 | 1 | |
| 613980 | ATRIAL FIBRILLATION, FAMILIAL, 9; ATFB9 | 1 | |
| 108800 | ATRIAL SEPTAL DEFECT 1; ASD1 | 1 | |
| 607941 | ATRIAL SEPTAL DEFECT 2; ASD2 | 1 | |
| 614089 | ATRIAL SEPTAL DEFECT 3; ASD3 | 1 | |
| 611363 | ATRIAL SEPTAL DEFECT 4; ASD4 | 1 | |
| 612794 | ATRIAL SEPTAL DEFECT 5; ASD5 | 1 | |
| 613087 | ATRIAL SEPTAL DEFECT 6; ASD6 | 1 | |
| 108900 | ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION | 1 | |
| 614433 | ATRIAL SEPTAL DEFECT 8; ASD8 | 1 | |
| 614475 | ATRIAL SEPTAL DEFECT 9; ASD9 | 1 | |
| 108770 | ATRIAL STANDSTILL | 1 | |
| 209500 | ATRICHIA WITH PAPULAR LESIONS; APL | 1 | |
| 600309 | ATRIOVENTRICULAR SEPTAL DEFECT 3; AVSD3 | 1 | |
| 614430 | ATRIOVENTRICULAR SEPTAL DEFECT 4; AVSD4 | 1 | |
| 614474 | ATRIOVENTRICULAR SEPTAL DEFECT 5; AVSD5 | 1 | |
| 606217 | ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2; AVSD2 | 1 | |
| 606215 | ATRIOVENTRICULAR SEPTAL DEFECT; AVSD | 1 | |
| 608903 | ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 1 | 1 | |
| 608904 | ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 2 | 1 | |
| 608905 | ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 3 | 1 | |
| 608906 | ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 4 | 1 | |
| 612311 | ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 5 | 1 | |
| 612312 | ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 6 | 1 | |
| 613003 | ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7 | 1 | |
| 143465 | ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD | 2 | |
| 209950 | ATYPICAL MYCOBACTERIOSIS, FAMILIAL | 5 | |
| 300636 | ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 1; AMCBX1 | 1 | |
| 300645 | ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 2; AMCBX2 | 1 | |
| 609129 | AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1; AUNA1 | 1 | |
| 607842 | AURAL ATRESIA, CONGENITAL; CAA | 1 | |
| 602483 | AURICULOCONDYLAR SYNDROME 1; ARCND1 | 1 | |
| 614669 | AURICULOCONDYLAR SYNDROME 2; ARCND2 | 1 | |
| 209850 | AUTISM | 1 | |
| 610836 | AUTISM, SUSCEPTIBILITY TO, 11; AUTS11 | 1 | |
| 610838 | AUTISM, SUSCEPTIBILITY TO, 12; AUTS12 | 1 | |
| 610908 | AUTISM, SUSCEPTIBILITY TO, 13; AUTS13 | 1 | |
| 612100 | AUTISM, SUSCEPTIBILITY TO, 15; AUTS15 | 1 | |
| 613410 | AUTISM, SUSCEPTIBILITY TO, 16; AUTS16 | 1 | |
| 613436 | AUTISM, SUSCEPTIBILITY TO, 17; AUTS17 | 1 | |
| 615032 | AUTISM, SUSCEPTIBILITY TO, 18; AUTS18 | 1 | |
| 615091 | AUTISM, SUSCEPTIBILITY TO, 19; AUTS19 | 1 | |
| 608049 | AUTISM, SUSCEPTIBILITY TO, 3; AUTS3 | 1 | |
| 606053 | AUTISM, SUSCEPTIBILITY TO, 5; AUTS5 | 1 | |
| 609378 | AUTISM, SUSCEPTIBILITY TO, 6; AUTS6 | 1 | |
| 610676 | AUTISM, SUSCEPTIBILITY TO, 7; AUTS7 | 1 | |
| 607373 | AUTISM, SUSCEPTIBILITY TO, 8; AUTS8 | 1 | |
| 300425 | AUTISM, SUSCEPTIBILITY TO, X-LINKED 1; AUTSX1 | 1 | |
| 300495 | AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2 | 1 | |
| 300496 | AUTISM, SUSCEPTIBILITY TO, X-LINKED 3; AUTSX3 | 1 | |
| 300847 | AUTISM, SUSCEPTIBILITY TO, X-LINKED 5; AUTSX5 | 1 | |
| 607836 | AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1; AIS1 | 1 | |
| 608391 | AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 2; AIS2 | 1 | |
| 608392 | AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 3; AIS3 | 1 | |
| 609400 | AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 4; AIS4 | 1 | |
| 613551 | AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6; AIS6 | 1 | |
| 613385 | AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM | 1 | |
| 603909 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A | 1 | |
| 614470 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV; ALPS4 | 1 | |
| 601859 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; ALPS | 2 | |
| 240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I; APS1 | 1 | |
| 608173 | AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 1 | 1 | |
| 608174 | AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 2 | 1 | |
| 608175 | AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3; AITD3 | 2 | |
| 608176 | AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 4 | 1 | |
| 614878 | AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED; | 1 | |
| 256040 | AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME; ALDD | 1 | |
| 608805 | AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY | 1 | |
| 180500 | AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1 | 1 | |
| 601499 | AXENFELD-RIEGER SYNDROME, TYPE 2; RIEG2 | 1 | |
| 602482 | AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3 | 1 | |
| 109180 | BABOON M7 VIRUS INTEGRATION SITE; BEVI | 1 | |
| 614382 | BACTEREMIA, SUSCEPTIBILITY TO, 1; BACTS1 | 1 | |
| 614383 | BACTEREMIA, SUSCEPTIBILITY TO, 2; BACTS2 | 1 | |
| 615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | 1 | |
| 218600 | BALLER-GEROLD SYNDROME; BGS | 1 | |
| 251290 | BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA; | 1 | |
| 153480 | BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS | 1 | |
| 243310 | BARAITSER-WINTER SYNDROME 1; BRWS1 | 1 | |
| 614583 | BARAITSER-WINTER SYNDROME 2; BRWS2 | 1 | |
| 209900 | BARDET-BIEDL SYNDROME; BBS | 18 | |
| 604571 | BARE LYMPHOCYTE SYNDROME, TYPE I | 3 | |
| 209920 | BARE LYMPHOCYTE SYNDROME, TYPE II | 4 | |
| 614266 | BARRETT ESOPHAGUS | 3 | |
| 302060 | BARTH SYNDROME; BTHS | 1 | |
| 601678 | BARTTER SYNDROME, ANTENATAL, TYPE 1 | 1 | |
| 241200 | BARTTER SYNDROME, ANTENATAL, TYPE 2 | 1 | |
| 607364 | BARTTER SYNDROME, TYPE 3 | 1 | |
| 602522 | BARTTER SYNDROME, TYPE 4A | 1 | |
| 613090 | BARTTER SYNDROME, TYPE 4B | 2 | |
| 605462 | BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1; BCC1 | 1 | |
| 613058 | BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 2; BCC2 | 1 | |
| 613059 | BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 3; BCC3 | 1 | |
| 613061 | BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 4; BCC4 | 1 | |
| 613062 | BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 5; BCC5 | 1 | |
| 613063 | BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 6; BCC6 | 1 | |
| 614740 | BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7; BCC7 | 1 | |
| 109400 | BASAL CELL NEVUS SYNDROME; BCNS | 1 | |
| 213600 | BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1; IBGC1 | 1 | |
| 606656 | BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 2; IBGC2 | 1 | |
| 615007 | BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4; IBGC4 | 1 | |
| 126700 | BASAL LAMINAR DRUSEN | 1 | |
| 301845 | BAZEX SYNDROME; BZX | 1 | |
| 123790 | BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS | 1 | |
| 613680 | BEAULIEU-BOYCOTT-INNES SYNDROME; BBIS | 1 | |
| 130650 | BECKWITH-WIEDEMANN SYNDROME; BWS | 6 | |
| 169600 | BENIGN CHRONIC PEMPHIGUS; BCPM | 1 | |
| 614592 | BENT BONE DYSPLASIA SYNDROME; BBDS | 1 | |
| 153670 | BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT; BSSA2 | 1 | |
| 231200 | BERNARD-SOULIER SYNDROME; BSS | 3 | |
| 611809 | BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB | 1 | |
| 109670 | BETA-ADRENERGIC STIMULATION, RESPONSE TO; BAS | 1 | |
| 109660 | BETA-AMINO ACIDS, RENAL TRANSPORT OF; AABT | 1 | |
| 250620 | BETA-HYDROXYISOBUTYRYL CoA DEACYLASE DEFICIENCY | 1 | |
| 613985 | BETA-THALASSEMIA | 2 | |
| 603902 | BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE | 1 | |
| 613161 | BETA-UREIDOPROPIONASE DEFICIENCY | 1 | |
| 158810 | BETHLEM MYOPATHY | 3 | |
| 210370 | BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY | 1 | |
| 608980 | BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES; BNAR | 1 | |
| 613291 | BILE ACID MALABSORPTION, PRIMARY; PBAM | 1 | |
| 607765 | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1; CBAS1 | 1 | |
| 235555 | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2; CBAS2 | 1 | |
| 613812 | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3; CBAS3 | 1 | |
| 214950 | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; CBAS4 | 1 | |
| 613007 | BILIARY CIRRHOSIS, PRIMARY, 2; PBC2 | 1 | |
| 613008 | BILIARY CIRRHOSIS, PRIMARY, 3; PBC3 | 1 | |
| 614220 | BILIARY CIRRHOSIS, PRIMARY, 4; PBC4 | 1 | |
| 614221 | BILIARY CIRRHOSIS, PRIMARY, 5; PBC5 | 1 | |
| 601816 | BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; BILIQTL1 | 1 | |
| 253260 | BIOTINIDASE DEFICIENCY | 1 | |
| 613393 | BIRBECK GRANULE DEFICIENCY | 1 | |
| 612292 | BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME | 1 | |
| 135150 | BIRT-HOGG-DUBE SYNDROME; BHD | 1 | |
| 613459 | BIRTH WEIGHT QUANTITATIVE TRAIT LOCUS 2; BWQTL2 | 1 | |
| 615192 | BIRTH WEIGHT QUANTITATIVE TRAIT LOCUS 4; BWQTL4 | 1 | |
| 222800 | BISPHOSPHOGLYCERATE MUTASE DEFICIENCY | 1 | |
| 262000 | BJORNSTAD SYNDROME; BJS | 1 | |
| 109800 | BLADDER CANCER | 5 | |
| 186580 | BLAU SYNDROME | 1 | |
| 605913 | BLEEDING DISORDER, EAST TEXAS TYPE | 1 | |
| 614201 | BLEEDING DISORDER, PLATELET-TYPE, 11; BDPLT11 | 1 | |
| 614009 | BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13 | 1 | |
| 614158 | BLEEDING DISORDER, PLATELET-TYPE, 14; BDPLT14 | 1 | |
| 615193 | BLEEDING DISORDER, PLATELET-TYPE, 15; BDPLT15 | 1 | |
| 187800 | BLEEDING DISORDER, PLATELET-TYPE, 16; BDPLT16 | 2 | |
| 609821 | BLEEDING DISORDER, PLATELET-TYPE, 8; BDPLT8 | 1 | |
| 614200 | BLEEDING DISORDER, PLATELET-TYPE, 9; BDPLT9 | 1 | |
| 110100 | BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES | 1 | |
| 615057 | BLEPHAROPHIMOSIS-PTOSIS-INTELLECTUAL DISABILITY SYNDROME; BPIDS | 1 | |
| 606798 | BLEPHAROSPASM, BENIGN ESSENTIAL | 1 | |
| 111250 | BLOOD GROUP SYSTEM, LANDSTEINER-WIENER; LW | 1 | |
| 614374 | BLOOD GROUP, CHIDO/RODGERS SYSTEM | 1 | |
| 613793 | BLOOD GROUP, CROMER SYSTEM; CROM | 1 | |
| 110700 | BLOOD GROUP, DUFFY SYSTEM; FY | 1 | |
| 615021 | BLOOD GROUP, GLOBOSIDE SYSTEM; GLOB | 1 | |
| 110800 | BLOOD GROUP, I SYSTEM; Ii | 1 | |
| 609027 | BLOOD GROUP, INDIAN SYSTEM; IN | 1 | |
| 614745 | BLOOD GROUP, JOHN MILTON HAGEN SYSTEM | 1 | |
| 614490 | BLOOD GROUP, JUNIOR SYSTEM; JR | 1 | |
| 111600 | BLOOD GROUP, LANGEREIS SYSTEM; LAN | 1 | |
| 111400 | BLOOD GROUP, P1PK SYSTEM | 2 | |
| 615264 | BLOOD GROUP, VEL SYSTEM; VEL | 1 | |
| 110350 | BLOOD GROUP--AHONEN; AN | 1 | |
| 110450 | BLOOD GROUP--COLTON; CO | 1 | |
| 110500 | BLOOD GROUP--DIEGO SYSTEM; DI | 1 | |
| 601551 | BLOOD GROUP--FROESE | 1 | |
| 110900 | BLOOD GROUP--KELL SYSTEM; KEL | 1 | |
| 111000 | BLOOD GROUP--KIDD SYSTEM; JK | 1 | |
| 111150 | BLOOD GROUP--LUTHERAN INHIBITOR; INLU | 1 | |
| 111200 | BLOOD GROUP--LUTHERAN SYSTEM; LU | 1 | |
| 111380 | BLOOD GROUP--OK; OK | 1 | |
| 111690 | BLOOD GROUP--RHESUS SYSTEM E POLYPEPTIDE; RHE | 1 | |
| 111750 | BLOOD GROUP--SCIANNA SYSTEM; SC | 1 | |
| 111800 | BLOOD GROUP--STOLTZFUS SYSTEM; Sf | 1 | |
| 601550 | BLOOD GROUP--SWANN SYSTEM; SW | 1 | |
| 112010 | BLOOD GROUP--WALDNER TYPE; WD | 1 | |
| 112050 | BLOOD GROUP--WRIGHT ANTIGEN; WR | 1 | |
| 210900 | BLOOM SYNDROME; BLM | 1 | |
| 303700 | BLUE CONE MONOCHROMACY; BCM | 2 | |
| 607514 | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10; BMIQ10 | 1 | |
| 300306 | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 11; BMIQ11 | 1 | |
| 612362 | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12; BMIQ12 | 1 | |
| 612459 | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 13; BMIQ13 | 1 | |
| 612460 | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14; BMIQ14 | 1 | |
| 612967 | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 15; BMIQ15 | 1 | |
| 615457 | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18; BMIQ18 | 1 | |
| 606643 | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 2; BMIQ2 | 1 | |
| 607446 | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 3; BMIQ3 | 1 | |
| 607447 | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4; BMIQ4 | 1 | |
| 608558 | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 5; BMIQ5 | 1 | |
| 608559 | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 6; BMIQ6 | 1 | |
| 608410 | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 7; BMIQ7 | 1 | |
| 603188 | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 8; BMIQ8 | 1 | |
| 602025 | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9; BMIQ9 | 1 | |
| 606641 | BODY MASS INDEX; BMI | 1 | |
| 605039 | BOHRING-OPITZ SYNDROME; BOPS | 1 | |
| 612394 | BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS | 1 | |
| 614675 | BONE MARROW FAILURE, FAMILIAL; BMFF | 1 | |
| 612113 | BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 10; BMND10 | 1 | |
| 612114 | BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 11; BMND11 | 1 | |
| 612560 | BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 12; BMND12 | 1 | |
| 612727 | BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 13; BMND13 | 1 | |
| 612728 | BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 14; BMND14 | 1 | |
| 613418 | BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15; BMND15 | 1 | |
| 615221 | BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 16; BMND16 | 1 | |
| 615311 | BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 17; BMND17 | 1 | |
| 300910 | BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 18; BMND18 | 1 | |
| 601884 | BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1; BMND1 | 1 | |
| 605833 | BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 2; BMND2 | 1 | |
| 606928 | BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 3; BMND3 | 1 | |
| 300536 | BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 4; BMND4 | 1 | |
| 609354 | BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 5; BMND5 | 1 | |
| 609876 | BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 6; BMND6 | 1 | |
| 611738 | BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 7; BMND7 | 1 | |
| 611739 | BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 8; BMND8 | 1 | |
| 612110 | BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 9; BMND9 | 1 | |
| 609656 | BONE SIZE QUANTITATIVE TRAIT LOCUS 1 | 1 | |
| 609657 | BONE SIZE QUANTITATIVE TRAIT LOCUS 2 | 1 | |
| 610649 | BONE SIZE QUANTITATIVE TRAIT LOCUS 3 | 1 | |
| 112310 | BOOMERANG DYSPLASIA | 1 | |
| 301900 | BORJESON-FORSSMAN-LEHMANN SYNDROME; BFLS | 1 | |
| 300843 | BORNHOLM EYE DISEASE; BED | 1 | |
| 607475 | BOTHNIA RETINAL DYSTROPHY | 1 | |
| 211180 | BOWEN-CONRADI SYNDROME; BWCNS | 1 | |
| 607004 | BRACHYDACTYLY, TYPE A1, B; BDA1B | 1 | |
| 615072 | BRACHYDACTYLY, TYPE A1, C; BDA1C | 1 | |
| 112500 | BRACHYDACTYLY, TYPE A1; BDA1 | 1 | |
| 112600 | BRACHYDACTYLY, TYPE A2; BDA2 | 3 | |
| 113000 | BRACHYDACTYLY, TYPE B1; BDB1 | 1 | |
| 611377 | BRACHYDACTYLY, TYPE B2; BDB2 | 1 | |
| 113100 | BRACHYDACTYLY, TYPE C; BDC | 1 | |
| 113200 | BRACHYDACTYLY, TYPE D; BDD | 1 | |
| 113300 | BRACHYDACTYLY, TYPE E1; BDE1 | 1 | |
| 613382 | BRACHYDACTYLY, TYPE E2; BDE2 | 1 | |
| 600430 | BRACHYDACTYLY-MENTAL RETARDATION SYNDROME; BDMR | 1 | |
| 610713 | BRACHYDACTYLY-SYNDACTYLY SYNDROME | 1 | |
| 113500 | BRACHYOLMIA TYPE 3 | 1 | |
| 612847 | BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES | 1 | |
| 607595 | BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE | 1 | |
| 614923 | BRANCHED-CHAIN KETOACID DEHYDROGENASE KINASE DEFICIENCY; BCKDKD | 1 | |
| 113620 | BRANCHIOOCULOFACIAL SYNDROME; BOFS | 1 | |
| 602588 | BRANCHIOOTIC SYNDROME 1; BOS1 | 1 | |
| 120502 | BRANCHIOOTIC SYNDROME 2 | 1 | |
| 608389 | BRANCHIOOTIC SYNDROME 3; BOS3 | 1 | |
| 113650 | BRANCHIOOTORENAL SYNDROME 1; BOR1 | 2 | |
| 610896 | BRANCHIOOTORENAL SYNDROME 2; BOR2 | 1 | |
| 114480 | BREAST CANCER | 24 | |
| 605365 | BREAST CANCER 3; BRCA3 | 1 | |
| 600048 | BREAST CANCER, 11-22 TRANSLOCATION-ASSOCIATED; BRCATA | 1 | |
| 604370 | BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1 | 1 | |
| 612555 | BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BROVCA2 | 1 | |
| 613399 | BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3; BROVCA3 | 1 | |
| 614291 | BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4; BROVCA4 | 1 | |
| 229200 | BRITTLE CORNEA SYNDROME 1; BCS1 | 1 | |
| 614170 | BRITTLE CORNEA SYNDROME 2; BCS2 | 1 | |
| 601003 | BRODY MYOPATHY | 1 | |
| 211400 | BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1; BESC1 | 2 | |
| 613021 | BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2; BESC2 | 1 | |
| 613071 | BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3; BESC3 | 1 | |
| 605041 | BROOKE-SPIEGLER SYNDROME; BRSS | 1 | |
| 211530 | BROWN-VIALETTO-VAN LAERE SYNDROME 1; BVVLS1 | 1 | |
| 614707 | BROWN-VIALETTO-VAN LAERE SYNDROME 2; BVVLS2 | 1 | |
| 259450 | BRUCK SYNDROME 1; BRKS1 | 1 | |
| 609220 | BRUCK SYNDROME 2; BRKS2 | 1 | |
| 601144 | BRUGADA SYNDROME 1; BRGDA1 | 1 | |
| 611777 | BRUGADA SYNDROME 2; BRGDA2 | 1 | |
| 611875 | BRUGADA SYNDROME 3; BRGDA3 | 1 | |
| 611876 | BRUGADA SYNDROME 4; BRGDA4 | 1 | |
| 612838 | BRUGADA SYNDROME 5; BRGDA5 | 1 | |
| 613119 | BRUGADA SYNDROME 6; BRGDA6 | 1 | |
| 613120 | BRUGADA SYNDROME 7; BRGDA7 | 1 | |
| 613123 | BRUGADA SYNDROME 8; BRGDA8 | 1 | |
| 300615 | BRUNNER SYNDROME | 1 | |
| 600880 | BUDD-CHIARI SYNDROME; BDCHS | 2 | |
| 607499 | BULIMIA NERVOSA, SUSCEPTIBILITY TO, 1; BULN1 | 1 | |
| 610269 | BULIMIA NERVOSA, SUSCEPTIBILITY TO, 2; BULN2 | 1 | |
| 302000 | BULLOUS DYSTROPHY, HEREDITARY MACULAR TYPE | 1 | |
| 113970 | BURKITT LYMPHOMA; BL | 1 | |
| 610446 | BURULI ULCER, SUSCEPTIBILITY TO | 1 | |
| 166700 | BUSCHKE-OLLENDORFF SYNDROME; BOS | 1 | |
| 211750 | C SYNDROME | 1 | |
| 611920 | C-REACTIVE PROTEIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; CRPQTL1 | 1 | |
| 613652 | C1q DEFICIENCY; C1QD | 3 | |
| 615082 | C3HEX, ABILITY TO SMELL | 1 | |
| 114000 | CAFFEY DISEASE | 1 | |
| 211800 | CALCIFICATION OF JOINTS AND ARTERIES; CALJA | 1 | |
| 114290 | CAMPOMELIC DYSPLASIA | 1 | |
| 114200 | CAMPTODACTYLY 1; CAMPD1 | 1 | |
| 610474 | CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME | 1 | |
| 208250 | CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME; CACP | 1 | |
| 131300 | CAMURATI-ENGELMANN DISEASE; CAEND | 1 | |
| 271900 | CANAVAN DISEASE | 1 | |
| 114450 | CANCER, FAMILIAL, WITH IN VITRO RADIORESISTANCE | 1 | |
| 114580 | CANDIDIASIS, FAMILIAL, 1; CANDF1 | 1 | |
| 212050 | CANDIDIASIS, FAMILIAL, 2; CANDF2 | 1 | |
| 607644 | CANDIDIASIS, FAMILIAL, 3; CANDF3 | 1 | |
| 613108 | CANDIDIASIS, FAMILIAL, 4; CANDF4 | 1 | |
| 613953 | CANDIDIASIS, FAMILIAL, 5; CANDF5 | 1 | |
| 613956 | CANDIDIASIS, FAMILIAL, 6; CANDF6 | 1 | |
| 614162 | CANDIDIASIS, FAMILIAL, 7; CANDF7 | 1 | |
| 615527 | CANDIDIASIS, FAMILIAL, 8; CANDF8 | 1 | |
| 239850 | CANTU SYNDROME | 1 | |
| 608354 | CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION; CMAVM | 1 | |
| 163000 | CAPILLARY MALFORMATIONS, CONGENITAL; CMC | 1 | |
| 237300 | CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO | 1 | |
| 212070 | CARBOXYPEPTIDASE N DEFICIENCY | 1 | |
| 114900 | CARCINOID TUMORS, INTESTINAL | 1 | |
| 600919 | CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED | 1 | |
| 115080 | CARDIAC CONDUCTION DEFECT | 1 | |
| 314400 | CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVD1 | 1 | |
| 615119 | CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE | 1 | |
| 604377 | CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE | 1 | |
| 115150 | CARDIOFACIOCUTANEOUS SYNDROME 1; CFC1 | 1 | |
| 615278 | CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2 | 1 | |
| 615279 | CARDIOFACIOCUTANEOUS SYNDROME 3; CFC3 | 1 | |
| 615280 | CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4 | 1 | |
| 115200 | CARDIOMYOPATHY, DILATED, 1A; CMD1A | 1 | |
| 612158 | CARDIOMYOPATHY, DILATED, 1AA; CMD1AA | 1 | |
| 600884 | CARDIOMYOPATHY, DILATED, 1B; CMD1B | 1 | |
| 612877 | CARDIOMYOPATHY, DILATED, 1BB; CMD1BB | 1 | |
| 601493 | CARDIOMYOPATHY, DILATED, 1C; CMD1C | 1 | |
| 613122 | CARDIOMYOPATHY, DILATED, 1CC; CMD1CC | 1 | |
| 601494 | CARDIOMYOPATHY, DILATED, 1D; CMD1D | 1 | |
| 613172 | CARDIOMYOPATHY, DILATED, 1DD; CMD1DD | 1 | |
| 601154 | CARDIOMYOPATHY, DILATED, 1E; CMD1E | 1 | |
| 613252 | CARDIOMYOPATHY, DILATED, 1EE; CMD1EE | 1 | |
| 613286 | CARDIOMYOPATHY, DILATED, 1FF; CMD1FF | 1 | |
| 604145 | CARDIOMYOPATHY, DILATED, 1G; CMD1G | 1 | |
| 613642 | CARDIOMYOPATHY, DILATED, 1GG; CMD1GG | 1 | |
| 604288 | CARDIOMYOPATHY, DILATED, 1H; CMD1H | 1 | |
| 613881 | CARDIOMYOPATHY, DILATED, 1HH; CMD1HH | 1 | |
| 604765 | CARDIOMYOPATHY, DILATED, 1I; CMD1I | 1 | |
| 615184 | CARDIOMYOPATHY, DILATED, 1II; CMD1II | 1 | |
| 605362 | CARDIOMYOPATHY, DILATED, 1J; CMD1J | 1 | |
| 605582 | CARDIOMYOPATHY, DILATED, 1K; CMD1K | 1 | |
| 615248 | CARDIOMYOPATHY, DILATED, 1KK; CMD1KK | 1 | |
| 606685 | CARDIOMYOPATHY, DILATED, 1L; CMD1L | 1 | |
| 607482 | CARDIOMYOPATHY, DILATED, 1M; CMD1M | 1 | |
| 607487 | CARDIOMYOPATHY, DILATED, 1N; CMD1N | 1 | |
| 608569 | CARDIOMYOPATHY, DILATED, 1O; CMD1O | 1 | |
| 609909 | CARDIOMYOPATHY, DILATED, 1P; CMD1P | 1 | |
| 609915 | CARDIOMYOPATHY, DILATED, 1Q; CMD1Q | 1 | |
| 613424 | CARDIOMYOPATHY, DILATED, 1R; CMD1R | 1 | |
| 613426 | CARDIOMYOPATHY, DILATED, 1S; CMD1S | 1 | |
| 613740 | CARDIOMYOPATHY, DILATED, 1T; CMD1T | 1 | |
| 613694 | CARDIOMYOPATHY, DILATED, 1U; CMD1U | 1 | |
| 613697 | CARDIOMYOPATHY, DILATED, 1V; CMD1V | 1 | |
| 611407 | CARDIOMYOPATHY, DILATED, 1W; CMD1W | 1 | |
| 611615 | CARDIOMYOPATHY, DILATED, 1X; CMD1X | 1 | |
| 611878 | CARDIOMYOPATHY, DILATED, 1Y; CMD1Y | 1 | |
| 611879 | CARDIOMYOPATHY, DILATED, 1Z; CMD1Z | 1 | |
| 611880 | CARDIOMYOPATHY, DILATED, 2A; CMD2A | 1 | |
| 614672 | CARDIOMYOPATHY, DILATED, 2B; CMD2B | 1 | |
| 302045 | CARDIOMYOPATHY, DILATED, 3B; CMD3B | 1 | |
| 212112 | CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM | 1 | |
| 605676 | CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA; DCWHK | 1 | |
| 608758 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10; CMH10 | 1 | |
| 612098 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11; CMH11 | 1 | |
| 612124 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12; CMH12 | 1 | |
| 613243 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13; CMH13 | 1 | |
| 613251 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14; CMH14 | 1 | |
| 613255 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15; CMH15 | 1 | |
| 613838 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16; CMH16 | 1 | |
| 613873 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17; CMH17 | 1 | |
| 613874 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18; CMH18 | 1 | |
| 613875 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 19; CMH19 | 1 | |
| 192600 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1 | 4 | |
| 613876 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20; CMH20 | 1 | |
| 614676 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 21; CMH21 | 1 | |
| 115195 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2 | 1 | |
| 115196 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3; CMH3 | 1 | |
| 115197 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4 | 1 | |
| 600858 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6; CMH6 | 1 | |
| 613690 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7; CMH7 | 1 | |
| 608751 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8; CMH8 | 1 | |
| 613765 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9; CMH9 | 1 | |
| 115210 | CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1 | 1 | |
| 609578 | CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 2; RCM2 | 1 | |
| 612422 | CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3; RCM3 | 1 | |
| 608837 | CARNEY COMPLEX VARIANT | 1 | |
| 160980 | CARNEY COMPLEX, TYPE 1; CNC1 | 1 | |
| 605244 | CARNEY COMPLEX, TYPE 2; CNC2 | 1 | |
| 212140 | CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP | 1 | |
| 255120 | CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY | 1 | |
| 600649 | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE | 1 | |
| 255110 | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET | 1 | |
| 608836 | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL | 1 | |
| 212138 | CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY | 1 | |
| 212200 | CARNOSINEMIA | 1 | |
| 609338 | CAROTID INTIMAL MEDIAL THICKNESS 1 | 1 | |
| 608447 | CAROTID INTIMAL MEDIAL THICKNESS 2 | 1 | |
| 115430 | CARPAL TUNNEL SYNDROME; CTS1 | 1 | |
| 201000 | CARPENTER SYNDROME 1; CRPT1 | 1 | |
| 614976 | CARPENTER SYNDROME 2; CRPT2 | 1 | |
| 250250 | CARTILAGE-HAIR HYPOPLASIA; CHH | 1 | |
| 607271 | CASPASE 8 DEFICIENCY | 1 | |
| 115470 | CAT EYE SYNDROME; CES | 1 | |
| 116200 | CATARACT 1, MULTIPLE TYPES; CTRCT1 | 1 | |
| 600881 | CATARACT 10, MULTIPLE TYPES; CTRCT10 | 1 | |
| 610623 | CATARACT 11, MULTIPLE TYPES; CTRCT11 | 1 | |
| 611597 | CATARACT 12, MULTIPLE TYPES; CTRCT12 | 1 | |
| 601885 | CATARACT 14, MULTIPLE TYPES; CTRCT14 | 1 | |
| 615274 | CATARACT 15, MULTIPLE TYPES; CTRCT15 | 1 | |
| 613763 | CATARACT 16, MULTIPLE TYPES; CTRCT16 | 1 | |
| 611544 | CATARACT 17, MULTIPLE TYPES; CTRCT17 | 1 | |
| 610019 | CATARACT 18; CTRCT18 | 1 | |
| 615277 | CATARACT 19; CTRCT19 | 1 | |
| 604307 | CATARACT 2, MULTIPLE TYPES; CTRCT2 | 1 | |
| 116100 | CATARACT 20, MULTIPLE TYPES; CTRCT20 | 1 | |
| 610202 | CATARACT 21, MULTIPLE TYPES; CTRCT21 | 1 | |
| 609741 | CATARACT 22; CTRCT22 | 1 | |
| 610425 | CATARACT 23; CTRCT23 | 1 | |
| 601202 | CATARACT 24; CTRCT24 | 1 | |
| 605728 | CATARACT 25; CTRCT25 | 1 | |
| 605749 | CATARACT 26, MULTIPLE TYPES; CTRCT26 | 1 | |
| 607304 | CATARACT 27; CTRCT27 | 1 | |
| 609026 | CATARACT 28; CTRCT28 | 1 | |
| 115800 | CATARACT 29; CTRCT29 | 1 | |
| 601547 | CATARACT 3, MULTIPLE TYPES; CTRCT3 | 1 | |
| 116300 | CATARACT 30; CTRCT30 | 1 | |
| 605387 | CATARACT 31, MULTIPLE TYPES; CTRCT31 | 1 | |
| 115650 | CATARACT 32, MULTIPLE TYPES; CTRCT32 | 1 | |
| 611391 | CATARACT 33; CTRCT33 | 1 | |
| 612968 | CATARACT 34, MULTIPLE TYPES; CTRCT34 | 1 | |
| 609376 | CATARACT 35; CTRCT35 | 1 | |
| 613887 | CATARACT 36; CTRCT36 | 1 | |
| 614422 | CATARACT 37; CTRCT37 | 1 | |
| 614691 | CATARACT 38; CTRCT38 | 1 | |
| 615188 | CATARACT 39, MULTIPLE TYPES; CTRCT39 | 1 | |
| 115700 | CATARACT 4, MULTIPLE TYPES; CTRCT4 | 1 | |
| 302200 | CATARACT 40; CTRCT40 | 1 | |
| 116800 | CATARACT 5, MULTIPLE TYPES; CTRCT5 | 1 | |
| 116600 | CATARACT 6, MULTIPLE TYPES; CTRCT6 | 1 | |
| 115660 | CATARACT 7; CTRCT7 | 1 | |
| 115665 | CATARACT 8, MULTIPLE TYPES; CTRCT8 | 1 | |
| 604219 | CATARACT 9, MULTIPLE TYPES; CTRCT9 | 1 | |
| 612018 | CATARACT, JUVENILE, WITH MICROCORNEA AND GLUCOSURIA; CJMG | 1 | |
| 302380 | CATEL-MANZKE SYNDROME | 1 | |
| 607864 | CAUDAL DUPLICATION ANOMALY | 1 | |
| 611543 | CAVITARY OPTIC DISC ANOMALIES | 1 | |
| 125520 | CAYLER CARDIOFACIAL SYNDROME | 1 | |
| 614893 | CD11C-POSITIVE/CD1C-POSITIVE DENDRITIC CELL DEFICIENCY, AUTOSOMAL | 1 | |
| 608957 | CD8 DEFICIENCY, FAMILIAL | 1 | |
| 603116 | CDAGS SYNDROME | 1 | |
| 612008 | CELIAC DISEASE, SUSCEPTIBILITY TO, 10; CELIAC10 | 1 | |
| 612009 | CELIAC DISEASE, SUSCEPTIBILITY TO, 11; CELIAC11 | 1 | |
| 612010 | CELIAC DISEASE, SUSCEPTIBILITY TO, 12; CELIAC12 | 1 | |
| 612011 | CELIAC DISEASE, SUSCEPTIBILITY TO, 13; CELIAC13 | 1 | |
| 609754 | CELIAC DISEASE, SUSCEPTIBILITY TO, 2; CELIAC2 | 1 | |
| 609755 | CELIAC DISEASE, SUSCEPTIBILITY TO, 3; CELIAC3 | 1 | |
| 609753 | CELIAC DISEASE, SUSCEPTIBILITY TO, 4; CELIAC4 | 1 | |
| 607202 | CELIAC DISEASE, SUSCEPTIBILITY TO, 5; CELIAC5 | 1 | |
| 611598 | CELIAC DISEASE, SUSCEPTIBILITY TO, 6; CELIAC6 | 1 | |
| 612005 | CELIAC DISEASE, SUSCEPTIBILITY TO, 7; CELIAC7 | 1 | |
| 612006 | CELIAC DISEASE, SUSCEPTIBILITY TO, 8; CELIAC8 | 1 | |
| 612007 | CELIAC DISEASE, SUSCEPTIBILITY TO, 9; CELIAC9 | 1 | |
| 212750 | CELIAC DISEASE; CD | 2 | |
| 212780 | CENANI-LENZ SYNDACTYLY SYNDROME; CLSS | 1 | |
| 117000 | CENTRAL CORE DISEASE OF MUSCLE | 1 | |
| 209880 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS | 6 | |
| 117100 | CENTRALOPATHIC EPILEPSY | 1 | |
| 212840 | CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM; CAHH | 1 | |
| 601238 | CEREBELLAR ATAXIA, CAYMAN TYPE; ATCAY | 1 | |
| 604121 | CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT; ADCADN | 1 | |
| 610185 | CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME | 1 | |
| 224050 | CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME | 1 | |
| 613227 | CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME | 1 | |
| 615268 | CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME | 1 | |
| 614756 | CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION; CANPMR | 1 | |
| 605714 | CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED | 1 | |
| 105150 | CEREBRAL AMYLOID ANGIOPATHY, CST3-RELATED | 1 | |
| 176500 | CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 | 1 | |
| 117300 | CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2 | 1 | |
| 125310 | CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS | 1 | |
| 600142 | CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS | 1 | |
| 603284 | CEREBRAL CAVERNOUS MALFORMATIONS 2; CCM2 | 1 | |
| 603285 | CEREBRAL CAVERNOUS MALFORMATIONS 3; CCM3 | 1 | |
| 116860 | CEREBRAL CAVERNOUS MALFORMATIONS; CCM | 1 | |
| 300352 | CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1 | 1 | |
| 612736 | CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2 | 1 | |
| 612718 | CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CCDS3 | 1 | |
| 609528 | CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA | 1 | |
| 605388 | CEREBRAL PALSY, ATAXIC, AUTOSOMAL RECESSIVE | 1 | |
| 603513 | CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1; CPSQ1 | 1 | |
| 612900 | CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ2 | 1 | |
| 300864 | CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED | 1 | |
| 214150 | CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1 | 1 | |
| 610756 | CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2 | 1 | |
| 610758 | CEREBROOCULOFACIOSKELETAL SYNDROME 4; COFS4 | 1 | |
| 612199 | CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS; CRMCC | 1 | |
| 213700 | CEREBROTENDINOUS XANTHOMATOSIS; CTX | 1 | |
| 610127 | CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10 | 1 | |
| 614706 | CEROID LIPOFUSCINOSIS, NEURONAL, 11; CLN11 | 1 | |
| 615362 | CEROID LIPOFUSCINOSIS, NEURONAL, 13; CLN13 | 1 | |
| 256730 | CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1 | 1 | |
| 204500 | CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2 | 1 | |
| 204200 | CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3 | 1 | |
| 204300 | CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE; CLN4A | 1 | |
| 256731 | CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5 | 1 | |
| 601780 | CEROID LIPOFUSCINOSIS, NEURONAL, 6; CLN6 | 1 | |
| 610951 | CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7 | 1 | |
| 610003 | CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT | 1 | |
| 600143 | CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8 | 1 | |
| 609055 | CEROID LIPOFUSCINOSIS, NEURONAL, 9; CLN9 | 1 | |
| 603956 | CERVICAL CANCER | 1 | |
| 614809 | CFHR5 DEFICIENCY | 1 | |
| 275630 | CHANARIN-DORFMAN SYNDROME; CDS | 1 | |
| 169100 | CHAR SYNDROME | 1 | |
| 118300 | CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS | 1 | |
| 118210 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1 | 1 | |
| 609260 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CMT2A2 | 1 | |
| 605588 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1; CMT2B1 | 1 | |
| 605589 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2; CMT2B2 | 1 | |
| 600882 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B; CMT2B | 1 | |
| 601472 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D | 1 | |
| 607684 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E; CMT2E | 1 | |
| 606595 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F; CMT2F | 1 | |
| 608591 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G; CMT2G | 1 | |
| 607731 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2H; CMT2H | 1 | |
| 607677 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I; CMT2I | 1 | |
| 607736 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J; CMT2J | 1 | |
| 607831 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; CMT2K | 1 | |
| 608673 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L; CMT2L | 1 | |
| 613287 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N; CMT2N | 1 | |
| 614228 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O; CMT2O | 1 | |
| 614436 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P; CMT2P | 1 | |
| 615025 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q; CMT2Q | 1 | |
| 615490 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R; CMT2R | 1 | |
| 607706 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL | 1 | |
| 118220 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A | 1 | |
| 118200 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B | 1 | |
| 601098 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C; CMT1C | 1 | |
| 607678 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D | 1 | |
| 607734 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F; CMT1F | 1 | |
| 614895 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F; CMT4F | 1 | |
| 606483 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A; CMTDIA | 1 | |
| 606482 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B; CMTDIB | 1 | |
| 608323 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C; CMTDIC | 1 | |
| 607791 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D; CMTDID | 1 | |
| 614455 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E; CMTDIE | 1 | |
| 615185 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F; CMTDIF | 1 | |
| 608340 | CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A; CMTRIA | 1 | |
| 613641 | CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B; CMTRIB | 1 | |
| 615376 | CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C; CMTRIC | 1 | |
| 214400 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A | 1 | |
| 601382 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1; CMT4B1 | 1 | |
| 604563 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2; CMT4B2 | 1 | |
| 615284 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3; CMT4B3 | 1 | |
| 601596 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; CMT4C | 1 | |
| 601455 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D; CMT4D | 1 | |
| 609311 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H | 1 | |
| 611228 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J | 1 | |
| 302800 | CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1; CMTX1 | 1 | |
| 302801 | CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2; CMTX2 | 1 | |
| 302802 | CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3; CMTX3 | 1 | |
| 311070 | CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5 | 1 | |
| 214800 | CHARGE SYNDROME | 2 | |
| 214500 | CHEDIAK-HIGASHI SYNDROME; CHS | 1 | |
| 118400 | CHERUBISM | 1 | |
| 610448 | CHILBLAIN LUPUS 1; CHBL1 | 1 | |
| 614415 | CHILBLAIN LUPUS 2; CHBL2 | 1 | |
| 614122 | CHITOTRIOSIDASE DEFICIENCY; CHITD | 1 | |
| 613611 | CHOANAL ATRESIA AND LYMPHEDEMA | 1 | |
| 613806 | CHOLANGITIS, PRIMARY SCLEROSING; PSC | 1 | |
| 243300 | CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1 | 1 | |
| 605479 | CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2; BRIC2 | 1 | |
| 614972 | CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3; ICP3 | 1 | |
| 147480 | CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1; ICP1 | 1 | |
| 211600 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1 | 1 | |
| 601847 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2; PFIC2 | 1 | |
| 602347 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3; PFIC3 | 1 | |
| 214900 | CHOLESTASIS-LYMPHEDEMA SYNDROME | 1 | |
| 604595 | CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1 | 1 | |
| 610760 | CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2 | 1 | |
| 600668 | CHONDROCALCINOSIS 1; CCAL1 | 1 | |
| 118600 | CHONDROCALCINOSIS 2; CCAL2 | 1 | |
| 302950 | CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1 | 1 | |
| 302960 | CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2 | 1 | |
| 614078 | CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE | 1 | |
| 300863 | CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, | 1 | |
| 609441 | CHONDRODYSPLASIA, ACROMESOMELIC, WITH GENITAL ANOMALIES | 1 | |
| 215045 | CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD | 1 | |
| 200700 | CHONDRODYSPLASIA, GREBE TYPE | 1 | |
| 215300 | CHONDROSARCOMA | 1 | |
| 612237 | CHONDROSARCOMA, EXTRASKELETAL MYXOID | 3 | |
| 215400 | CHORDOMA, SUSCEPTIBILITY TO; CHDM | 1 | |
| 118700 | CHOREA, BENIGN HEREDITARY; BHC | 1 | |
| 200150 | CHOREOACANTHOCYTOSIS; CHAC | 1 | |
| 610978 | CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS | 1 | |
| 600790 | CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL | 1 | |
| 215500 | CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 1; CACD1 | 1 | |
| 613105 | CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2; CACD2 | 1 | |
| 613144 | CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 3; CACD3 | 1 | |
| 303110 | CHOROIDEREMIA, DEAFNESS, AND MENTAL RETARDATION | 1 | |
| 303100 | CHOROIDEREMIA; CHM | 1 | |
| 118840 | CHROMATE RESISTANCE; CHR | 1 | |
| 609625 | CHROMOSOME 10q26 DELETION SYNDROME | 1 | |
| 613884 | CHROMOSOME 13q14 DELETION SYNDROME | 1 | |
| 613457 | CHROMOSOME 14q11-q22 DELETION SYNDROME | 1 | |
| 612001 | CHROMOSOME 15q13.3 DELETION SYNDROME | 1 | |
| 613406 | CHROMOSOME 15q24 DELETION SYNDROME | 1 | |
| 614294 | CHROMOSOME 15q25 DELETION SYNDROME | 1 | |
| 612626 | CHROMOSOME 15q26-qter DELETION SYNDROME | 1 | |
| 613444 | CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB | 1 | |
| 611913 | CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB | 1 | |
| 614671 | CHROMOSOME 16p11.2 DUPLICATION SYNDROME | 1 | |
| 613604 | CHROMOSOME 16p12.2-p11.2 DELETION SYNDROME, 7.1- TO 8.7-MB | 1 | |
| 610543 | CHROMOSOME 16p13.3 DELETION SYNDROME, PROXIMAL | 1 | |
| 613458 | CHROMOSOME 16p13.3 DUPLICATION SYNDROME | 1 | |
| 614541 | CHROMOSOME 16q22 DELETION SYNDROME | 1 | |
| 613776 | CHROMOSOME 17p13.1 DELETION SYNDROME | 1 | |
| 613215 | CHROMOSOME 17p13.3, CENTROMERIC, DUPLICATION SYNDROME | 1 | |
| 612576 | CHROMOSOME 17p13.3, TELOMERIC, DUPLICATION SYNDROME | 1 | |
| 613675 | CHROMOSOME 17q11.2 DELETION SYNDROME, 1.4-MB | 1 | |
| 614527 | CHROMOSOME 17q12 DELETION SYNDROME | 1 | |
| 614526 | CHROMOSOME 17q12 DUPLICATION SYNDROME | 1 | |
| 613533 | CHROMOSOME 17q21.31 DUPLICATION SYNDROME | 1 | |
| 613355 | CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME | 1 | |
| 613618 | CHROMOSOME 17q23.1-q23.2 DUPLICATION SYNDROME | 1 | |
| 609334 | CHROMOSOME 18 PERICENTRIC INVERSION | 1 | |
| 146390 | CHROMOSOME 18p DELETION SYNDROME | 1 | |
| 601808 | CHROMOSOME 18q DELETION SYNDROME | 1 | |
| 613638 | CHROMOSOME 19p13.13 DELETION SYNDROME | 1 | |
| 613026 | CHROMOSOME 19q13.11 DELETION SYNDROME | 1 | |
| 613735 | CHROMOSOME 1p32-p31 DELETION SYNDROME | 1 | |
| 607872 | CHROMOSOME 1p36 DELETION SYNDROME | 1 | |
| 612474 | CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB | 1 | |
| 612475 | CHROMOSOME 1q21.1 DUPLICATION SYNDROME | 1 | |
| 612530 | CHROMOSOME 1q41-q42 DELETION SYNDROME | 1 | |
| 611867 | CHROMOSOME 22q11.2 DELETION SYNDROME, DISTAL | 1 | |
| 608363 | CHROMOSOME 22q11.2 DUPLICATION SYNDROME | 1 | |
| 615538 | CHROMOSOME 22q13 DUPLICATION SYNDROME | 1 | |
| 613564 | CHROMOSOME 2p12-p11.2 DELETION SYNDROME | 1 | |
| 612513 | CHROMOSOME 2p16.1-p15 DELETION SYNDROME | 1 | |
| 614332 | CHROMOSOME 2p16.3 DELETION SYNDROME | 1 | |
| 613681 | CHROMOSOME 2q31.1 DUPLICATION SYNDROME | 1 | |
| 612345 | CHROMOSOME 2q31.2 DELETION SYNDROME | 1 | |
| 612313 | CHROMOSOME 2q32-q33 DELETION SYNDROME | 1 | |
| 185900 | CHROMOSOME 2q35 DUPLICATION SYNDROME | 1 | |
| 613792 | CHROMOSOME 3pter-p25 DELETION SYNDROME | 1 | |
| 615433 | CHROMOSOME 3q13.31 DELETION SYNDROME | 1 | |
| 609425 | CHROMOSOME 3q29 DELETION SYNDROME | 1 | |
| 611936 | CHROMOSOME 3q29 DUPLICATION SYNDROME | 1 | |
| 613509 | CHROMOSOME 4q21 DELETION SYNDROME | 1 | |
| 613603 | CHROMOSOME 4q32.1-q32.2 TRIPLICATION SYNDROME | 1 | |
| 613174 | CHROMOSOME 5p13 DUPLICATION SYNDROME | 1 | |
| 153550 | CHROMOSOME 5q DELETION SYNDROME | 1 | |
| 612582 | CHROMOSOME 6pter-p24 DELETION SYNDROME | 1 | |
| 613544 | CHROMOSOME 6q11-q14 DELETION SYNDROME | 1 | |
| 612863 | CHROMOSOME 6q24-q25 DELETION SYNDROME | 1 | |
| 613729 | CHROMOSOME 7q11.23 DELETION SYNDROME, DISTAL, 1.2-MB | 1 | |
| 613523 | CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME | 1 | |
| 600257 | CHROMOSOME 8q12.1-q21.2 DELETION SYNDROME | 1 | |
| 614230 | CHROMOSOME 8q21.11 DELETION SYNDROME | 1 | |
| 158170 | CHROMOSOME 9p DELETION SYNDROME | 1 | |
| 300801 | CHROMOSOME Xp11.23-p11.22 DUPLICATION SYNDROME | 1 | |
| 300578 | CHROMOSOME Xp11.3 DELETION SYNDROME | 1 | |
| 300679 | CHROMOSOME Xp21 DELETION SYNDROME | 1 | |
| 300830 | CHROMOSOME Xp22 DELETION SYNDROME | 1 | |
| 300869 | CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME | 1 | |
| 300815 | CHROMOSOME Xq28 DUPLICATION SYNDROME | 1 | |
| 604213 | CHUDLEY-MCCULLOUGH SYNDROME; CMCS | 1 | |
| 246700 | CHYLOMICRON RETENTION DISEASE; CMRD | 1 | |
| 612518 | CILIARY DYSKINESIA, PRIMARY, 10; CILD10 | 1 | |
| 612649 | CILIARY DYSKINESIA, PRIMARY, 11; CILD11 | 1 | |
| 612650 | CILIARY DYSKINESIA, PRIMARY, 12; CILD12 | 1 | |
| 613193 | CILIARY DYSKINESIA, PRIMARY, 13; CILD13 | 1 | |
| 613807 | CILIARY DYSKINESIA, PRIMARY, 14; CILD14 | 1 | |
| 613808 | CILIARY DYSKINESIA, PRIMARY, 15; CILD15 | 1 | |
| 614017 | CILIARY DYSKINESIA, PRIMARY, 16; CILD16 | 1 | |
| 614679 | CILIARY DYSKINESIA, PRIMARY, 17; CILD17 | 1 | |
| 614874 | CILIARY DYSKINESIA, PRIMARY, 18; CILD18 | 1 | |
| 614935 | CILIARY DYSKINESIA, PRIMARY, 19; CILD19 | 1 | |
| 244400 | CILIARY DYSKINESIA, PRIMARY, 1; CILD1 | 1 | |
| 615067 | CILIARY DYSKINESIA, PRIMARY, 20; CILD20 | 1 | |
| 615294 | CILIARY DYSKINESIA, PRIMARY, 21; CILD21 | 1 | |
| 615444 | CILIARY DYSKINESIA, PRIMARY, 22; CILD22 | 1 | |
| 615451 | CILIARY DYSKINESIA, PRIMARY, 23; CILD23 | 1 | |
| 615481 | CILIARY DYSKINESIA, PRIMARY, 24; CILD24 | 1 | |
| 615482 | CILIARY DYSKINESIA, PRIMARY, 25; CILD25 | 1 | |
| 615500 | CILIARY DYSKINESIA, PRIMARY, 26; CILD26 | 1 | |
| 615504 | CILIARY DYSKINESIA, PRIMARY, 27; CILD27 | 1 | |
| 615505 | CILIARY DYSKINESIA, PRIMARY, 28; CILD28 | 1 | |
| 606763 | CILIARY DYSKINESIA, PRIMARY, 2; CILD2 | 1 | |
| 608644 | CILIARY DYSKINESIA, PRIMARY, 3; CILD3 | 1 | |
| 608646 | CILIARY DYSKINESIA, PRIMARY, 4; CILD4 | 1 | |
| 608647 | CILIARY DYSKINESIA, PRIMARY, 5; CILD5 | 1 | |
| 610852 | CILIARY DYSKINESIA, PRIMARY, 6; CILD6 | 1 | |
| 611884 | CILIARY DYSKINESIA, PRIMARY, 7; CILD7 | 1 | |
| 612274 | CILIARY DYSKINESIA, PRIMARY, 8; CILD8 | 1 | |
| 612444 | CILIARY DYSKINESIA, PRIMARY, 9; CILD9 | 1 | |
| 607115 | CINCA SYNDROME; CINCA | 1 | |
| 611109 | CINNAMON ODOR, PLEASANTNESS OF | 1 | |
| 215700 | CITRULLINEMIA, CLASSIC | 1 | |
| 603471 | CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2 | 1 | |
| 605814 | CITRULLINEMIA, TYPE II, NEONATAL-ONSET | 1 | |
| 300831 | CK SYNDROME | 1 | |
| 225060 | CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME; CLPED1 | 1 | |
| 303400 | CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED; CPX | 1 | |
| 119540 | CLEFT PALATE, ISOLATED; CPI | 2 | |
| 119600 | CLEIDOCRANIAL DYSPLASIA; CCD | 1 | |
| 129500 | CLOUSTON SYNDROME | 1 | |
| 119800 | CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR | 1 | |
| 216360 | COACH SYNDROME | 3 | |
| 300216 | COATS DISEASE | 1 | |
| 216400 | COCKAYNE SYNDROME A; CSA | 1 | |
| 133540 | COCKAYNE SYNDROME B; CSB | 1 | |
| 613630 | COCOON SYNDROME | 1 | |
| 607426 | COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1 | 1 | |
| 614651 | COENZYME Q10 DEFICIENCY, PRIMARY, 2; COQ10D2 | 1 | |
| 614652 | COENZYME Q10 DEFICIENCY, PRIMARY, 3; COQ10D3 | 1 | |
| 612016 | COENZYME Q10 DEFICIENCY, PRIMARY, 4; COQ10D4 | 1 | |
| 614654 | COENZYME Q10 DEFICIENCY, PRIMARY, 5; COQ10D5 | 1 | |
| 614650 | COENZYME Q10 DEFICIENCY, PRIMARY, 6; COQ10D6 | 1 | |
| 303600 | COFFIN-LOWRY SYNDROME; CLS | 1 | |
| 300082 | COGNITIVE FUNCTION 1, SOCIAL; CGF1 | 1 | |
| 614306 | COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA; CIAT | 1 | |
| 216550 | COHEN SYNDROME; COH1 | 1 | |
| 120080 | COLCHICINE RESISTANCE | 1 | |
| 272430 | COLD-INDUCED SWEATING SYNDROME 1; CISS1 | 1 | |
| 610313 | COLD-INDUCED SWEATING SYNDROME 2; CISS2 | 1 | |
| 615522 | COLE DISEASE; COLED | 1 | |
| 120430 | COLOBOMA OF OPTIC NERVE | 1 | |
| 280000 | COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL | 1 | |
| 303800 | COLORBLINDNESS, PARTIAL, DEUTAN SERIES; CBD | 1 | |
| 303900 | COLORBLINDNESS, PARTIAL, PROTAN SERIES; CBP | 1 | |
| 609310 | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2 | 1 | |
| 614337 | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4; HNPCC4 | 1 | |
| 614350 | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5; HNPCC5 | 1 | |
| 614331 | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6; HNPCC6 | 1 | |
| 614385 | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7; HNPCC7 | 1 | |
| 613244 | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8; HNPCC8 | 1 | |
| 612591 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 10; CRCS10 | 1 | |
| 612592 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 11; CRCS11 | 1 | |
| 615083 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 12; CRCS12 | 1 | |
| 608812 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 1; CRCS1 | 1 | |
| 611469 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 2; CRCS2 | 1 | |
| 612229 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 3; CRCS3 | 1 | |
| 612230 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 5; CRCS5 | 1 | |
| 612231 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 6; CRCS6 | 1 | |
| 612232 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 7; CRCS7 | 1 | |
| 612589 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 8; CRCS8 | 1 | |
| 612590 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 9; CRCS9 | 1 | |
| 114500 | COLORECTAL CANCER; CRC | 21 | |
| 233650 | COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS; CCHIDG | 2 | |
| 615182 | COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA; D2L2AD | 1 | |
| 312863 | COMBINED IMMUNODEFICIENCY, X-LINKED; CIDX | 1 | |
| 614265 | COMBINED MALONIC AND METHYLMALONIC ACIDURIA; CMAMMA | 1 | |
| 614702 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10; COXPD10 | 1 | |
| 614922 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11; COXPD11 | 1 | |
| 614924 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12 | 1 | |
| 614932 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13 | 1 | |
| 614946 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14; COXPD14 | 1 | |
| 614947 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15; COXPD15 | 1 | |
| 615395 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16; COXPD16 | 1 | |
| 615440 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17; COXPD17 | 1 | |
| 609060 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1; COXPD1 | 1 | |
| 610498 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2; COXPD2 | 1 | |
| 610505 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3; COXPD3 | 1 | |
| 610678 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4; COXPD4 | 1 | |
| 611719 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5; COXPD5 | 1 | |
| 300816 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6; COXPD6 | 1 | |
| 613559 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7; COXPD7 | 1 | |
| 614096 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8; COXPD8 | 1 | |
| 614582 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9 | 1 | |
| 611721 | COMBINED SAPOSIN DEFICIENCY | 1 | |
| 217000 | COMPLEMENT COMPONENT 2 DEFICIENCY; C2D | 1 | |
| 613779 | COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE; C3D | 1 | |
| 120790 | COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF | 1 | |
| 614380 | COMPLEMENT COMPONENT 4A DEFICIENCY; C4AD | 1 | |
| 614379 | COMPLEMENT COMPONENT 4B DEFICIENCY; C4BD | 1 | |
| 609536 | COMPLEMENT COMPONENT 5 DEFICIENCY; C5D | 1 | |
| 612446 | COMPLEMENT COMPONENT 6 DEFICIENCY; C6D | 1 | |
| 610102 | COMPLEMENT COMPONENT 7 DEFICIENCY; C7D | 1 | |
| 613790 | COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I; C8D1 | 1 | |
| 613789 | COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II; C8D2 | 1 | |
| 613825 | COMPLEMENT COMPONENT 9 DEFICIENCY; C9D | 1 | |
| 216950 | COMPLEMENT COMPONENT C1r/C1s DEFICIENCY | 1 | |
| 613783 | COMPLEMENT COMPONENT C1s DEFICIENCY; C1SD | 1 | |
| 613912 | COMPLEMENT FACTOR D DEFICIENCY; CFDD | 1 | |
| 609814 | COMPLEMENT FACTOR H DEFICIENCY; CFHD | 1 | |
| 610984 | COMPLEMENT FACTOR I DEFICIENCY; CFID | 1 | |
| 602093 | CONE DYSTROPHY 3; COD3 | 1 | |
| 613093 | CONE DYSTROPHY 4; COD4 | 1 | |
| 610283 | CONE-ROD DYSTROPHY 10; CORD10 | 1 | |
| 610381 | CONE-ROD DYSTROPHY 11; CORD11 | 1 | |
| 612657 | CONE-ROD DYSTROPHY 12; CORD12 | 1 | |
| 608194 | CONE-ROD DYSTROPHY 13; CORD13 | 1 | |
| 613660 | CONE-ROD DYSTROPHY 15; CORD15 | 1 | |
| 614500 | CONE-ROD DYSTROPHY 16; CORD16 | 1 | |
| 615163 | CONE-ROD DYSTROPHY 17; CORD17 | 1 | |
| 615374 | CONE-ROD DYSTROPHY 18; CORD18 | 1 | |
| 600624 | CONE-ROD DYSTROPHY 1; CORD1 | 1 | |
| 120970 | CONE-ROD DYSTROPHY 2; CORD2 | 1 | |
| 604116 | CONE-ROD DYSTROPHY 3; CORD3 | 1 | |
| 600977 | CONE-ROD DYSTROPHY 5; CORD5 | 1 | |
| 601777 | CONE-ROD DYSTROPHY 6; CORD6 | 1 | |
| 603649 | CONE-ROD DYSTROPHY 7; CORD7 | 1 | |
| 605549 | CONE-ROD DYSTROPHY 8; CORD8 | 1 | |
| 612775 | CONE-ROD DYSTROPHY 9; CORD9 | 1 | |
| 304020 | CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1 | 1 | |
| 300085 | CONE-ROD DYSTROPHY, X-LINKED, 2; CORDX2 | 1 | |
| 300476 | CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3 | 1 | |
| 610805 | CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, SUSCEPTIBILITY TO; | 1 | |
| 604168 | CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY | 1 | |
| 614482 | CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION; CCHLND | 1 | |
| 212065 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A | 1 | |
| 602579 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B | 1 | |
| 603147 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic; CDG1C | 1 | |
| 601110 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; CDG1D | 1 | |
| 608799 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E | 1 | |
| 609180 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; CDG1F | 1 | |
| 607143 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig; CDG1G | 1 | |
| 608104 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih; CDG1H | 1 | |
| 607906 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii; CDG1I | 1 | |
| 212066 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A | 1 | |
| 606056 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb; CDG2B | 1 | |
| 266265 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C | 1 | |
| 607091 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId; CDG2D | 1 | |
| 608779 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe; CDG2E | 1 | |
| 603585 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf; CDG2F | 1 | |
| 611209 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg; CDG2G | 1 | |
| 611182 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh; CDG2H | 1 | |
| 613612 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I | 1 | |
| 613489 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj; CDG2J | 1 | |
| 614727 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk; CDG2K | 1 | |
| 614576 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L | 1 | |
| 300896 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm; CDG2M | 1 | |
| 608093 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J | 1 | |
| 608540 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K | 1 | |
| 608776 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il; CDG1L | 1 | |
| 610768 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M | 1 | |
| 612015 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In; CDG1N | 1 | |
| 612937 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Io; CDG1O | 1 | |
| 613661 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip; CDG1P | 1 | |
| 612379 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq; CDG1Q | 1 | |
| 614507 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir; CDG1R | 1 | |
| 300884 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Is; CDG1S | 1 | |
| 614921 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It; CDG1T | 1 | |
| 615042 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu; CDG1U | 1 | |
| 615273 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iv; CDG1V | 1 | |
| 614980 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2; CHTD2 | 1 | |
| 614954 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 3; CHTD3 | 1 | |
| 308050 | CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB | 1 | |
| 612918 | CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL | 1 | |
| 615237 | CONGENITAL SHORT BOWEL SYNDROME; CSBS | 1 | |
| 217095 | CONOTRUNCAL HEART MALFORMATIONS; CTHM | 6 | |
| 602066 | CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; | 1 | |
| 121300 | COPROPORPHYRIA, HEREDITARY; HCP | 1 | |
| 121400 | CORNEA PLANA 1; CNA1 | 1 | |
| 217300 | CORNEA PLANA 2; CNA2 | 1 | |
| 217400 | CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS; CDPD | 1 | |
| 608470 | CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE I; CDB1 | 1 | |
| 602082 | CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE II; CDB2 | 1 | |
| 607541 | CORNEAL DYSTROPHY, AVELLINO TYPE; CDA | 1 | |
| 610048 | CORNEAL DYSTROPHY, CONGENITAL STROMAL; CSCD | 1 | |
| 300779 | CORNEAL DYSTROPHY, ENDOTHELIAL, X-LINKED; XECD | 1 | |
| 121820 | CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE; EBMD | 1 | |
| 121850 | CORNEAL DYSTROPHY, FLECK | 1 | |
| 136800 | CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1; FECD1 | 1 | |
| 610158 | CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 2; FECD2 | 1 | |
| 613267 | CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3; FECD3 | 1 | |
| 613268 | CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD4 | 1 | |
| 613269 | CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 5; FECD5 | 1 | |
| 613270 | CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6; FECD6 | 1 | |
| 613271 | CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 7; FECD7 | 1 | |
| 615523 | CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8; FECD8 | 1 | |
| 204870 | CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE; GDLD | 1 | |
| 121900 | CORNEAL DYSTROPHY, GROENOUW TYPE I; CDGG1 | 1 | |
| 122200 | CORNEAL DYSTROPHY, LATTICE TYPE I; LCD1 | 1 | |
| 608471 | CORNEAL DYSTROPHY, LATTICE TYPE IIIA; CDL3A | 1 | |
| 300778 | CORNEAL DYSTROPHY, LISCH EPITHELIAL; LECD | 1 | |
| 122100 | CORNEAL DYSTROPHY, MEESMANN; MECD | 2 | |
| 122000 | CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1; PPCD1 | 1 | |
| 609140 | CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2; PPCD2 | 1 | |
| 609141 | CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3; PPCD3 | 1 | |
| 121700 | CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT; CHED1 | 1 | |
| 217700 | CORNEAL ENDOTHELIAL DYSTROPHY 2, AUTOSOMAL RECESSIVE; CHED2 | 1 | |
| 615225 | CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA; CIDED | 1 | |
| 122470 | CORNELIA DE LANGE SYNDROME 1; CDLS1 | 1 | |
| 300590 | CORNELIA DE LANGE SYNDROME 2; CDLS2 | 1 | |
| 610759 | CORNELIA DE LANGE SYNDROME 3; CDLS3 | 1 | |
| 614701 | CORNELIA DE LANGE SYNDROME 4; CDLS4 | 1 | |
| 300882 | CORNELIA DE LANGE SYNDROME 5; CDLS5 | 1 | |
| 610947 | CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2; ADCAD2 | 1 | |
| 608320 | CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1; ADCAD1 | 1 | |
| 607339 | CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 1 | 1 | |
| 608316 | CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 2 | 1 | |
| 300464 | CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 3 | 1 | |
| 608318 | CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 4 | 1 | |
| 608901 | CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 5 | 1 | |
| 614466 | CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 6; CHDS6 | 1 | |
| 610938 | CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7; CHDS7 | 1 | |
| 611139 | CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 8; CHDS8 | 1 | |
| 612030 | CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 9; CHDS9 | 1 | |
| 300004 | CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA | 1 | |
| 300472 | CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, | 1 | |
| 304100 | CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED | 1 | |
| 614039 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1; CDCBM1 | 1 | |
| 615282 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2 | 1 | |
| 615411 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3; CDCBM3 | 1 | |
| 615412 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4; CDCBM4 | 1 | |
| 610042 | CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME | 1 | |
| 614115 | CORTICAL MALFORMATIONS, OCCIPITAL; OCCM | 1 | |
| 611489 | CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY | 1 | |
| 203400 | CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY | 1 | |
| 610600 | CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY | 1 | |
| 604931 | CORTISONE REDUCTASE DEFICIENCY 1; CORTRD1 | 1 | |
| 614662 | CORTISONE REDUCTASE DEFICIENCY 2; CORTRD2 | 1 | |
| 218040 | COSTELLO SYNDROME | 1 | |
| 122700 | COUMARIN RESISTANCE | 4 | |
| 260660 | COUSIN SYNDROME | 1 | |
| 310490 | COWCHOCK SYNDROME; COWCK | 1 | |
| 158350 | COWDEN SYNDROME 1; CWS1 | 1 | |
| 612359 | COWDEN SYNDROME 2; CWS2 | 1 | |
| 615106 | COWDEN SYNDROME 3; CWS3 | 1 | |
| 615107 | COWDEN SYNDROME 4; CWS4 | 1 | |
| 615108 | COWDEN SYNDROME 5; CWS5 | 1 | |
| 615109 | COWDEN SYNDROME 6; CWS6 | 1 | |
| 120050 | COXSACKIEVIRUS B3 SUSCEPTIBILITY; CXB3S | 1 | |
| 122860 | CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CDD | 1 | |
| 218330 | CRANIOECTODERMAL DYSPLASIA 1; CED1 | 1 | |
| 613610 | CRANIOECTODERMAL DYSPLASIA 2; CED2 | 1 | |
| 614099 | CRANIOECTODERMAL DYSPLASIA 3; CED3 | 1 | |
| 614378 | CRANIOECTODERMAL DYSPLASIA 4; CED4 | 1 | |
| 614195 | CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME; CAASDS | 1 | |
| 614132 | CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION | 1 | |
| 122880 | CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS | 1 | |
| 300712 | CRANIOFACIOSKELETAL SYNDROME | 1 | |
| 304110 | CRANIOFRONTONASAL SYNDROME; CFNS | 1 | |
| 607812 | CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD | 1 | |
| 123000 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD | 1 | |
| 218400 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE; CMDR | 1 | |
| 123100 | CRANIOSYNOSTOSIS 1; CRS1 | 1 | |
| 604757 | CRANIOSYNOSTOSIS 2; CRS2 | 1 | |
| 615314 | CRANIOSYNOSTOSIS 3; CRS3 | 1 | |
| 600775 | CRANIOSYNOSTOSIS 4; CRS4 | 1 | |
| 615529 | CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO; CRS5 | 1 | |
| 614188 | CRANIOSYNOSTOSIS AND DENTAL ANOMALIES; CRSDA | 1 | |
| 600593 | CRANIOSYNOSTOSIS, ADELAIDE TYPE; CRSA | 1 | |
| 123270 | CREATINE KINASE, BRAIN TYPE, ECTOPIC EXPRESSION OF; CKBE | 1 | |
| 123320 | CREATINE PHOSPHOKINASE, ELEVATED SERUM | 1 | |
| 607135 | CREATININE CLEARANCE QUANTITATIVE TRAIT LOCUS | 1 | |
| 123400 | CREUTZFELDT-JAKOB DISEASE; CJD | 2 | |
| 123450 | CRI-DU-CHAT SYNDROME | 1 | |
| 218800 | CRIGLER-NAJJAR SYNDROME, TYPE I | 1 | |
| 606785 | CRIGLER-NAJJAR SYNDROME, TYPE II | 1 | |
| 123500 | CROUZON SYNDROME | 1 | |
| 612247 | CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS; CAN | 1 | |
| 219050 | CRYPTORCHIDISM, UNILATERAL OR BILATERAL | 2 | |
| 300471 | CUBITUS VALGUS WITH MENTAL RETARDATION AND UNUSUAL FACIES | 1 | |
| 176450 | CURRARINO SYNDROME | 1 | |
| 614564 | CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL; FCTCS | 1 | |
| 123700 | CUTIS LAXA, AUTOSOMAL DOMINANT 1; ADCL1 | 1 | |
| 614434 | CUTIS LAXA, AUTOSOMAL DOMINANT 2; ADCL2 | 1 | |
| 219100 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA; ARCL1A | 1 | |
| 614437 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B | 1 | |
| 613177 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC; ARCL1C | 1 | |
| 219200 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A | 1 | |
| 612940 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB; ARCL2B | 1 | |
| 219150 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A | 1 | |
| 614438 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB; ARCL3B | 1 | |
| 613977 | CYANOSIS, TRANSIENT NEONATAL; TNCY | 1 | |
| 162800 | CYCLIC NEUTROPENIA | 1 | |
| 132700 | CYLINDROMATOSIS, FAMILIAL | 1 | |
| 219500 | CYSTATHIONINURIA | 1 | |
| 219700 | CYSTIC FIBROSIS; CF | 2 | |
| 219750 | CYSTINOSIS, ADULT NONNEPHROPATHIC | 1 | |
| 219900 | CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE | 1 | |
| 219800 | CYSTINOSIS, NEPHROPATHIC; CTNS | 1 | |
| 220100 | CYSTINURIA | 2 | |
| 609162 | CZECH DYSPLASIA | 1 | |
| 600721 | D-2-@HYDROXYGLUTARIC ACIDURIA 1 | 1 | |
| 613657 | D-2-@HYDROXYGLUTARIC ACIDURIA 2 | 1 | |
| 261515 | D-BIFUNCTIONAL PROTEIN DEFICIENCY | 1 | |
| 220120 | D-GLYCERIC ACIDURIA | 1 | |
| 304340 | DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, | 1 | |
| 220200 | DANDY-WALKER SYNDROME; DWS | 1 | |
| 300257 | DANON DISEASE | 1 | |
| 124200 | DARIER-WHITE DISEASE; DAR | 1 | |
| 278800 | DE SANCTIS-CACCHIONE SYNDROME | 1 | |
| 221200 | DEAFNESS AND MYOPIA; DFNMYP | 1 | |
| 580000 | DEAFNESS, AMINOGLYCOSIDE-INDUCED | 1 | |
| 601316 | DEAFNESS, AUTOSOMAL DOMINANT 10; DFNA10 | 1 | |
| 601317 | DEAFNESS, AUTOSOMAL DOMINANT 11; DFNA11 | 1 | |
| 601543 | DEAFNESS, AUTOSOMAL DOMINANT 12; DFNA12 | 1 | |
| 601868 | DEAFNESS, AUTOSOMAL DOMINANT 13; DFNA13 | 1 | |
| 602459 | DEAFNESS, AUTOSOMAL DOMINANT 15; DFNA15 | 1 | |
| 603964 | DEAFNESS, AUTOSOMAL DOMINANT 16; DFNA16 | 1 | |
| 603622 | DEAFNESS, AUTOSOMAL DOMINANT 17; DFNA17 | 1 | |
| 606012 | DEAFNESS, AUTOSOMAL DOMINANT 18; DFNA18 | 1 | |
| 124900 | DEAFNESS, AUTOSOMAL DOMINANT 1; DFNA1 | 1 | |
| 604717 | DEAFNESS, AUTOSOMAL DOMINANT 20; DFNA20 | 1 | |
| 607017 | DEAFNESS, AUTOSOMAL DOMINANT 21; DFNA21 | 1 | |
| 606346 | DEAFNESS, AUTOSOMAL DOMINANT 22; DFNA22 | 1 | |
| 605192 | DEAFNESS, AUTOSOMAL DOMINANT 23; DFNA23 | 1 | |
| 606282 | DEAFNESS, AUTOSOMAL DOMINANT 24; DFNA24 | 1 | |
| 605583 | DEAFNESS, AUTOSOMAL DOMINANT 25; DFNA25 | 1 | |
| 612431 | DEAFNESS, AUTOSOMAL DOMINANT 27; DFNA27 | 1 | |
| 608641 | DEAFNESS, AUTOSOMAL DOMINANT 28; DFNA28 | 1 | |
| 600101 | DEAFNESS, AUTOSOMAL DOMINANT 2A; DFNA2A | 1 | |
| 612644 | DEAFNESS, AUTOSOMAL DOMINANT 2B; DFNA2B | 1 | |
| 606451 | DEAFNESS, AUTOSOMAL DOMINANT 30; DFNA30 | 1 | |
| 608645 | DEAFNESS, AUTOSOMAL DOMINANT 31; DFNA31 | 1 | |
| 614211 | DEAFNESS, AUTOSOMAL DOMINANT 33; DFNA33 | 1 | |
| 606705 | DEAFNESS, AUTOSOMAL DOMINANT 36; DFNA36 | 1 | |
| 605594 | DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1 | 1 | |
| 601544 | DEAFNESS, AUTOSOMAL DOMINANT 3A; DFNA3A | 1 | |
| 612643 | DEAFNESS, AUTOSOMAL DOMINANT 3B; DFNA3B | 1 | |
| 608224 | DEAFNESS, AUTOSOMAL DOMINANT 41; DFNA41 | 1 | |
| 608394 | DEAFNESS, AUTOSOMAL DOMINANT 43; DFNA43 | 1 | |
| 607453 | DEAFNESS, AUTOSOMAL DOMINANT 44; DFNA44 | 1 | |
| 608652 | DEAFNESS, AUTOSOMAL DOMINANT 47; DFNA47 | 1 | |
| 607841 | DEAFNESS, AUTOSOMAL DOMINANT 48; DFNA48 | 1 | |
| 608372 | DEAFNESS, AUTOSOMAL DOMINANT 49; DFNA49 | 1 | |
| 600652 | DEAFNESS, AUTOSOMAL DOMINANT 4A; DFNA4A | 1 | |
| 614614 | DEAFNESS, AUTOSOMAL DOMINANT 4B; DFNA4B | 1 | |
| 613074 | DEAFNESS, AUTOSOMAL DOMINANT 50; DFNA50 | 1 | |
| 607683 | DEAFNESS, AUTOSOMAL DOMINANT 52; DFNA52 | 1 | |
| 609965 | DEAFNESS, AUTOSOMAL DOMINANT 53; DFNA53 | 1 | |
| 612642 | DEAFNESS, AUTOSOMAL DOMINANT 59; DFNA59 | 1 | |
| 600994 | DEAFNESS, AUTOSOMAL DOMINANT 5; DFNA5 | 1 | |
| 614152 | DEAFNESS, AUTOSOMAL DOMINANT 64; DFNA64 | 1 | |
| 600965 | DEAFNESS, AUTOSOMAL DOMINANT 6; DFNA6 | 1 | |
| 601412 | DEAFNESS, AUTOSOMAL DOMINANT 7; DFNA7 | 1 | |
| 601369 | DEAFNESS, AUTOSOMAL DOMINANT 9; DFNA9 | 1 | |
| 601386 | DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12 | 2 | |
| 603098 | DEAFNESS, AUTOSOMAL RECESSIVE 13; DFNB13 | 1 | |
| 603678 | DEAFNESS, AUTOSOMAL RECESSIVE 14; DFNB14 | 1 | |
| 601869 | DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15 | 1 | |
| 603720 | DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16 | 1 | |
| 603010 | DEAFNESS, AUTOSOMAL RECESSIVE 17; DFNB17 | 1 | |
| 602092 | DEAFNESS, AUTOSOMAL RECESSIVE 18A; DFNB18A | 1 | |
| 614945 | DEAFNESS, AUTOSOMAL RECESSIVE 18B; DFNB18B | 1 | |
| 220290 | DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A | 3 | |
| 612645 | DEAFNESS, AUTOSOMAL RECESSIVE 1B; DFNB1B | 1 | |
| 604060 | DEAFNESS, AUTOSOMAL RECESSIVE 20; DFNB20 | 1 | |
| 603629 | DEAFNESS, AUTOSOMAL RECESSIVE 21; DFNB21 | 1 | |
| 607039 | DEAFNESS, AUTOSOMAL RECESSIVE 22; DFNB22 | 1 | |
| 609533 | DEAFNESS, AUTOSOMAL RECESSIVE 23; DFNB23 | 1 | |
| 611022 | DEAFNESS, AUTOSOMAL RECESSIVE 24; DFNB24 | 1 | |
| 613285 | DEAFNESS, AUTOSOMAL RECESSIVE 25; DFNB25 | 1 | |
| 605428 | DEAFNESS, AUTOSOMAL RECESSIVE 26; DFNB26 | 1 | |
| 605818 | DEAFNESS, AUTOSOMAL RECESSIVE 27; DFNB27 | 1 | |
| 609823 | DEAFNESS, AUTOSOMAL RECESSIVE 28; DFNB28 | 1 | |
| 614035 | DEAFNESS, AUTOSOMAL RECESSIVE 29; DFNB29 | 1 | |
| 600060 | DEAFNESS, AUTOSOMAL RECESSIVE 2; DFNB2 | 1 | |
| 607101 | DEAFNESS, AUTOSOMAL RECESSIVE 30; DFNB30 | 1 | |
| 607084 | DEAFNESS, AUTOSOMAL RECESSIVE 31; DFNB31 | 1 | |
| 608653 | DEAFNESS, AUTOSOMAL RECESSIVE 32; DFNB32 | 1 | |
| 607239 | DEAFNESS, AUTOSOMAL RECESSIVE 33; DFNB33 | 1 | |
| 608565 | DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB35 | 1 | |
| 609006 | DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT; | 1 | |
| 607821 | DEAFNESS, AUTOSOMAL RECESSIVE 37; DFNB37 | 1 | |
| 608219 | DEAFNESS, AUTOSOMAL RECESSIVE 38; DFNB38 | 1 | |
| 608265 | DEAFNESS, AUTOSOMAL RECESSIVE 39; DFNB39 | 1 | |
| 600316 | DEAFNESS, AUTOSOMAL RECESSIVE 3; DFNB3 | 1 | |
| 600791 | DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT; | 3 | |
| 608264 | DEAFNESS, AUTOSOMAL RECESSIVE 40; DFNB40 | 1 | |
| 609646 | DEAFNESS, AUTOSOMAL RECESSIVE 42; DFNB42 | 1 | |
| 610154 | DEAFNESS, AUTOSOMAL RECESSIVE 44; DFNB44 | 1 | |
| 612433 | DEAFNESS, AUTOSOMAL RECESSIVE 45; DFNB45 | 1 | |
| 609647 | DEAFNESS, AUTOSOMAL RECESSIVE 46; DFNB46 | 1 | |
| 609946 | DEAFNESS, AUTOSOMAL RECESSIVE 47; DFNB47 | 1 | |
| 609439 | DEAFNESS, AUTOSOMAL RECESSIVE 48; DFNB48 | 1 | |
| 610153 | DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49 | 1 | |
| 609941 | DEAFNESS, AUTOSOMAL RECESSIVE 51; DFNB51 | 1 | |
| 609706 | DEAFNESS, AUTOSOMAL RECESSIVE 53; DFNB53 | 1 | |
| 609952 | DEAFNESS, AUTOSOMAL RECESSIVE 55; DFNB55 | 1 | |
| 610220 | DEAFNESS, AUTOSOMAL RECESSIVE 59; DFNB59 | 1 | |
| 600792 | DEAFNESS, AUTOSOMAL RECESSIVE 5; DFNB5 | 1 | |
| 613865 | DEAFNESS, AUTOSOMAL RECESSIVE 61; DFNB61 | 1 | |
| 610143 | DEAFNESS, AUTOSOMAL RECESSIVE 62; DFNB62 | 1 | |
| 611451 | DEAFNESS, AUTOSOMAL RECESSIVE 63; DFNB63 | 1 | |
| 610248 | DEAFNESS, AUTOSOMAL RECESSIVE 65; DFNB65 | 1 | |
| 610212 | DEAFNESS, AUTOSOMAL RECESSIVE 66; DFNB66 | 1 | |
| 610265 | DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67 | 1 | |
| 610419 | DEAFNESS, AUTOSOMAL RECESSIVE 68; DFNB68 | 1 | |
| 600971 | DEAFNESS, AUTOSOMAL RECESSIVE 6; DFNB6 | 1 | |
| 614934 | DEAFNESS, AUTOSOMAL RECESSIVE 70; DFNB70 | 1 | |
| 612789 | DEAFNESS, AUTOSOMAL RECESSIVE 71; DFNB71 | 1 | |
| 613718 | DEAFNESS, AUTOSOMAL RECESSIVE 74; DFNB74 | 1 | |
| 615540 | DEAFNESS, AUTOSOMAL RECESSIVE 76; DFNB76 | 1 | |
| 613079 | DEAFNESS, AUTOSOMAL RECESSIVE 77; DFNB77 | 1 | |
| 613307 | DEAFNESS, AUTOSOMAL RECESSIVE 79; DFNB79 | 1 | |
| 600974 | DEAFNESS, AUTOSOMAL RECESSIVE 7; DFNB7 | 1 | |
| 613685 | DEAFNESS, AUTOSOMAL RECESSIVE 83; DFNB83 | 1 | |
| 613391 | DEAFNESS, AUTOSOMAL RECESSIVE 84A; DFNB84A | 1 | |
| 614944 | DEAFNESS, AUTOSOMAL RECESSIVE 84B; DFNB84B | 1 | |
| 613392 | DEAFNESS, AUTOSOMAL RECESSIVE 85; DFNB85 | 1 | |
| 614617 | DEAFNESS, AUTOSOMAL RECESSIVE 86; DFNB86 | 1 | |
| 615429 | DEAFNESS, AUTOSOMAL RECESSIVE 88; DFNB88 | 1 | |
| 613916 | DEAFNESS, AUTOSOMAL RECESSIVE 89; DFNB89 | 1 | |
| 613453 | DEAFNESS, AUTOSOMAL RECESSIVE 91; DFNB91 | 1 | |
| 614899 | DEAFNESS, AUTOSOMAL RECESSIVE 93; DFNB93 | 1 | |
| 614414 | DEAFNESS, AUTOSOMAL RECESSIVE 96; DFNB96 | 1 | |
| 614861 | DEAFNESS, AUTOSOMAL RECESSIVE 98; DFNB98 | 1 | |
| 601071 | DEAFNESS, AUTOSOMAL RECESSIVE 9; DFNB9 | 1 | |
| 300719 | DEAFNESS, CATARACT, RETINITIS PIGMENTOSA, AND SPERM ABNORMALITIES | 1 | |
| 610706 | DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA | 1 | |
| 124500 | DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF | 1 | |
| 300475 | DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION; DDCH | 1 | |
| 500008 | DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL | 3 | |
| 605429 | DEAFNESS, NONSYNDROMIC, MODIFIER 1; DFNM1 | 1 | |
| 611102 | DEAFNESS, SENSORINEURAL, AND MALE INFERTILITY | 1 | |
| 304500 | DEAFNESS, X-LINKED 1; DFNX1 | 1 | |
| 304400 | DEAFNESS, X-LINKED 2; DFNX2 | 3 | |
| 300030 | DEAFNESS, X-LINKED 3; DFNX3 | 1 | |
| 300066 | DEAFNESS, X-LINKED 4; DFNX4 | 1 | |
| 300614 | DEAFNESS, X-LINKED 5; DFNX5 | 1 | |
| 400043 | DEAFNESS, Y-LINKED 1; DFNY1 | 1 | |
| 125260 | DEFECTIVE INTERFERING PARTICLE INDUCTION, CONTROL OF | 1 | |
| 194380 | DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA | 1 | |
| 614163 | DELAYED SLEEP PHASE SYNDROME, SUSCEPTIBILITY TO; DSPS | 1 | |
| 127750 | DEMENTIA, LEWY BODY; DLB | 3 | |
| 614172 | DENDRITIC CELL, MONOCYTE, B LYMPHOCYTE, AND NATURAL KILLER LYMPHOCYTE | 1 | |
| 614371 | DENGUE VIRUS, SUSCEPTIBILITY TO | 1 | |
| 300009 | DENT DISEASE 1 | 1 | |
| 300555 | DENT DISEASE 2 | 1 | |
| 125370 | DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA | 1 | |
| 125400 | DENTIN DYSPLASIA, TYPE I; DTDP1 | 1 | |
| 125420 | DENTIN DYSPLASIA, TYPE II | 1 | |
| 125490 | DENTINOGENESIS IMPERFECTA 1; DGI1 | 1 | |
| 125500 | DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III | 1 | |
| 194080 | DENYS-DRASH SYNDROME; DDS | 1 | |
| 603165 | DERMATITIS, ATOPIC | 1 | |
| 605803 | DERMATITIS, ATOPIC, 2; ATOD2 | 1 | |
| 605804 | DERMATITIS, ATOPIC, 3; ATOD3 | 1 | |
| 605844 | DERMATITIS, ATOPIC, 5; ATOD5 | 1 | |
| 605845 | DERMATITIS, ATOPIC, 6; ATOD6 | 1 | |
| 613064 | DERMATITIS, ATOPIC, 7; ATOD7 | 1 | |
| 607907 | DERMATOFIBROSARCOMA PROTUBERANS; DFSP | 1 | |
| 125595 | DERMATOPATHIA PIGMENTOSA RETICULARIS; DPR | 1 | |
| 125630 | DERMODISTORTIVE URTICARIA; DDU | 1 | |
| 304730 | DERMOIDS OF CORNEA; CND | 1 | |
| 251450 | DESBUQUOIS DYSPLASIA; DBQD | 1 | |
| 135290 | DESMOID DISEASE, HEREDITARY | 1 | |
| 602398 | DESMOSTEROLOSIS | 1 | |
| 125800 | DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL | 1 | |
| 304800 | DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED | 1 | |
| 125700 | DIABETES INSIPIDUS, NEUROHYPOPHYSEAL | 1 | |
| 601942 | DIABETES MELLITUS, INSULIN-DEPENDENT, 10; IDDM10 | 1 | |
| 601208 | DIABETES MELLITUS, INSULIN-DEPENDENT, 11; IDDM11 | 1 | |
| 601388 | DIABETES MELLITUS, INSULIN-DEPENDENT, 12; IDDM12 | 1 | |
| 601318 | DIABETES MELLITUS, INSULIN-DEPENDENT, 13; IDDM13 | 1 | |
| 601666 | DIABETES MELLITUS, INSULIN-DEPENDENT, 15; IDDM15 | 1 | |
| 603266 | DIABETES MELLITUS, INSULIN-DEPENDENT, 17; IDDM17 | 1 | |
| 605598 | DIABETES MELLITUS, INSULIN-DEPENDENT, 18; IDDM18 | 1 | |
| 125852 | DIABETES MELLITUS, INSULIN-DEPENDENT, 2 | 1 | |
| 612520 | DIABETES MELLITUS, INSULIN-DEPENDENT, 20; IDDM20 | 1 | |
| 612522 | DIABETES MELLITUS, INSULIN-DEPENDENT, 22; IDDM22 | 1 | |
| 612622 | DIABETES MELLITUS, INSULIN-DEPENDENT, 23; IDDM23 | 1 | |
| 613006 | DIABETES MELLITUS, INSULIN-DEPENDENT, 24; IDDM24 | 1 | |
| 600318 | DIABETES MELLITUS, INSULIN-DEPENDENT, 3; IDDM3 | 1 | |
| 600319 | DIABETES MELLITUS, INSULIN-DEPENDENT, 4; IDDM4 | 1 | |
| 600320 | DIABETES MELLITUS, INSULIN-DEPENDENT, 5; IDDM5 | 1 | |
| 601941 | DIABETES MELLITUS, INSULIN-DEPENDENT, 6; IDDM6 | 1 | |
| 600321 | DIABETES MELLITUS, INSULIN-DEPENDENT, 7; IDDM7 | 1 | |
| 600883 | DIABETES MELLITUS, INSULIN-DEPENDENT, 8; IDDM8 | 1 | |
| 300136 | DIABETES MELLITUS, INSULIN-DEPENDENT, X-LINKED, SUSCEPTIBILITY TO | 1 | |
| 222100 | DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM | 6 | |
| 610549 | DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS | 1 | |
| 612227 | DIABETES MELLITUS, KETOSIS-PRONE; KPD | 1 | |
| 610199 | DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM | 1 | |
| 601283 | DIABETES MELLITUS, NONINSULIN-DEPENDENT, 1; NIDDM1 | 1 | |
| 601407 | DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2; NIDDM2 | 1 | |
| 603694 | DIABETES MELLITUS, NONINSULIN-DEPENDENT, 3 | 1 | |
| 608036 | DIABETES MELLITUS, NONINSULIN-DEPENDENT, 4 | 1 | |
| 125853 | DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM | 29 | |
| 606176 | DIABETES MELLITUS, PERMANENT NEONATAL; PNDM | 5 | |
| 601410 | DIABETES MELLITUS, TRANSIENT NEONATAL, 1 | 3 | |
| 610374 | DIABETES MELLITUS, TRANSIENT NEONATAL, 2 | 1 | |
| 610582 | DIABETES MELLITUS, TRANSIENT NEONATAL, 3 | 1 | |
| 613309 | DIAMOND-BLACKFAN ANEMIA 10; DBA10 | 1 | |
| 614900 | DIAMOND-BLACKFAN ANEMIA 11; DBA11 | 1 | |
| 105650 | DIAMOND-BLACKFAN ANEMIA 1; DBA1 | 1 | |
| 606129 | DIAMOND-BLACKFAN ANEMIA 2; DBA2 | 1 | |
| 610629 | DIAMOND-BLACKFAN ANEMIA 3; DBA3 | 1 | |
| 612527 | DIAMOND-BLACKFAN ANEMIA 4; DBA4 | 1 | |
| 612528 | DIAMOND-BLACKFAN ANEMIA 5; DBA5 | 1 | |
| 612561 | DIAMOND-BLACKFAN ANEMIA 6; DBA6 | 1 | |
| 612562 | DIAMOND-BLACKFAN ANEMIA 7; DBA7 | 1 | |
| 612563 | DIAMOND-BLACKFAN ANEMIA 8; DBA8 | 1 | |
| 613308 | DIAMOND-BLACKFAN ANEMIA 9; DBA9 | 1 | |
| 608022 | DIAPHANOSPONDYLODYSOSTOSIS | 1 | |
| 222400 | DIAPHRAGMATIC HERNIA 2; DIH2 | 1 | |
| 610187 | DIAPHRAGMATIC HERNIA 3 | 1 | |
| 142340 | DIAPHRAGMATIC HERNIA, CONGENITAL | 1 | |
| 214700 | DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL; DIAR1 | 1 | |
| 251850 | DIARRHEA 2, WITH MICROVILLUS ATROPHY; DIAR2 | 1 | |
| 270420 | DIARRHEA 3, SECRETORY SODIUM, CONGENITAL; DIAR3 | 1 | |
| 610370 | DIARRHEA 4, MALABSORPTIVE, CONGENITAL; DIAR4 | 1 | |
| 613217 | DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL; DIAR5 | 1 | |
| 614616 | DIARRHEA 6; DIAR6 | 1 | |
| 222600 | DIASTROPHIC DYSPLASIA | 1 | |
| 601362 | DIGEORGE SYNDROME/VELOCARDIOFACIAL SYNDROME COMPLEX 2 | 1 | |
| 606835 | DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL; FDAB | 1 | |
| 119900 | DIGITAL CLUBBING, ISOLATED CONGENITAL | 1 | |
| 246900 | DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD | 1 | |
| 222748 | DIHYDROPYRIMIDINASE DEFICIENCY | 1 | |
| 274270 | DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY | 1 | |
| 605850 | DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY; DMGDHD | 1 | |
| 613571 | DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY | 1 | |
| 222448 | DONNAI-BARROW SYNDROME | 1 | |
| 246200 | DONOHUE SYNDROME | 1 | |
| 223360 | DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL | 1 | |
| 179850 | DOWLING-DEGOS DISEASE 1; DDD1 | 1 | |
| 615327 | DOWLING-DEGOS DISEASE 2; DDD2 | 1 | |
| 190685 | DOWN SYNDROME | 1 | |
| 126600 | DOYNE HONEYCOMB RETINAL DYSTROPHY; DHRD | 1 | |
| 607208 | DRAVET SYNDROME | 2 | |
| 609535 | DRUG METABOLISM, POOR, CYP2C19-RELATED | 1 | |
| 608902 | DRUG METABOLISM, POOR, CYP2D6-RELATED | 1 | |
| 126800 | DUANE RETRACTION SYNDROME 1; DURS1 | 1 | |
| 604356 | DUANE RETRACTION SYNDROME 2; DURS2 | 1 | |
| 607323 | DUANE-RADIAL RAY SYNDROME; DRRS | 1 | |
| 237500 | DUBIN-JOHNSON SYNDROME; DJS | 1 | |
| 126900 | DUPUYTREN CONTRACTURE | 1 | |
| 223800 | DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC | 1 | |
| 127400 | DYSCHROMATOSIS SYMMETRICA HEREDITARIA; DSH | 1 | |
| 127500 | DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1; DUH1 | 1 | |
| 612715 | DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 2; DUH2 | 1 | |
| 615402 | DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3 | 1 | |
| 127550 | DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; DKCA1 | 3 | |
| 613989 | DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2; DKCA2 | 1 | |
| 613990 | DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3; DKCA3 | 1 | |
| 224230 | DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 1; DKCB1 | 1 | |
| 613987 | DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 2; DKCB2 | 1 | |
| 613988 | DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3; DKCB3 | 1 | |
| 615190 | DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 5; DKCB5 | 1 | |
| 305000 | DYSKERATOSIS CONGENITA, X-LINKED; DKCX | 1 | |
| 127600 | DYSKERATOSIS, HEREDITARY BENIGN INTRAEPITHELIAL; HBID | 1 | |
| 606703 | DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA; FDFM | 1 | |
| 127700 | DYSLEXIA, SUSCEPTIBILITY TO, 1; DYX1 | 1 | |
| 600202 | DYSLEXIA, SUSCEPTIBILITY TO, 2; DYX2 | 1 | |
| 604254 | DYSLEXIA, SUSCEPTIBILITY TO, 3; DYX3 | 1 | |
| 606896 | DYSLEXIA, SUSCEPTIBILITY TO, 5; DYX5 | 1 | |
| 606616 | DYSLEXIA, SUSCEPTIBILITY TO, 6; DYX6 | 1 | |
| 608995 | DYSLEXIA, SUSCEPTIBILITY TO, 8; DYX8 | 1 | |
| 300509 | DYSLEXIA, SUSCEPTIBILITY TO, 9; DYX9 | 1 | |
| 224410 | DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE; DDSH | 1 | |
| 128100 | DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT; DYT1 | 1 | |
| 128235 | DYSTONIA 12; DYT12 | 1 | |
| 607671 | DYSTONIA 13, TORSION, AUTOSOMAL DOMINANT; DYT13 | 1 | |
| 607488 | DYSTONIA 15, MYOCLONIC; DYT15 | 1 | |
| 612067 | DYSTONIA 16; DYT16 | 1 | |
| 612406 | DYSTONIA 17, TORSION, AUTOSOMAL RECESSIVE; DYT17 | 1 | |
| 224500 | DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE; DYT2 | 1 | |
| 614588 | DYSTONIA 21; DYT21 | 1 | |
| 615034 | DYSTONIA 24; DYT24 | 1 | |
| 615073 | DYSTONIA 25; DYT25 | 1 | |
| 314250 | DYSTONIA 3, TORSION, X-LINKED; DYT3 | 1 | |
| 128101 | DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT; DYT4 | 1 | |
| 602629 | DYSTONIA 6, TORSION; DYT6 | 1 | |
| 602124 | DYSTONIA 7, TORSION; DYT7 | 1 | |
| 601042 | DYSTONIA 9; DYT9 | 1 | |
| 612716 | DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY | 1 | |
| 128230 | DYSTONIA, DOPA-RESPONSIVE; DRD | 1 | |
| 607371 | DYSTONIA, JUVENILE-ONSET | 1 | |
| 145680 | DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA | 1 | |
| 129150 | ECHO VIRUS 11 SENSITIVITY; E11S | 1 | |
| 305100 | ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; XHED | 1 | |
| 129490 | ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT; | 2 | |
| 224900 | ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL | 1 | |
| 614940 | ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL | 1 | |
| 614941 | ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL | 1 | |
| 602032 | ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE; ECTD4 | 1 | |
| 614927 | ECTODERMAL DYSPLASIA 5, HAIR/NAIL TYPE; ECTD5 | 1 | |
| 614928 | ECTODERMAL DYSPLASIA 6, HAIR/NAIL TYPE; ECTD6 | 1 | |
| 614929 | ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE; ECTD7 | 1 | |
| 602401 | ECTODERMAL DYSPLASIA 8, HAIR/TOOTH/NAIL TYPE; ECTD8 | 1 | |
| 614931 | ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE; ECTD9 | 1 | |
| 300301 | ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS, | 1 | |
| 612132 | ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL | 1 | |
| 300291 | ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY | 1 | |
| 613573 | ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1; EDSS1 | 1 | |
| 613576 | ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2; EDSS2 | 1 | |
| 604536 | ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME | 1 | |
| 129600 | ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1 | 1 | |
| 225100 | ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE; ECTOL2 | 1 | |
| 225200 | ECTOPIA LENTIS ET PUPILLAE | 1 | |
| 604292 | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME | 1 | |
| 129900 | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME | 1 | |
| 614303 | EDICT SYNDROME; EDICT | 1 | |
| 225280 | EEM SYNDROME | 1 | |
| 614546 | EFAVIRENZ, POOR METABOLISM OF | 1 | |
| 614557 | EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, | 1 | |
| 225320 | EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM | 1 | |
| 601776 | EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1; EDSMC1 | 1 | |
| 615539 | EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2; EDSMC2 | 1 | |
| 130070 | EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1; EDSP1 | 1 | |
| 615349 | EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2; EDSP2 | 1 | |
| 130000 | EHLERS-DANLOS SYNDROME, TYPE I | 3 | |
| 130010 | EHLERS-DANLOS SYNDROME, TYPE II | 1 | |
| 130020 | EHLERS-DANLOS SYNDROME, TYPE III | 2 | |
| 130050 | EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT | 1 | |
| 225400 | EHLERS-DANLOS SYNDROME, TYPE VI; EDS6 | 1 | |
| 130060 | EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT | 2 | |
| 225410 | EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE | 1 | |
| 130080 | EHLERS-DANLOS SYNDROME, TYPE VIII | 1 | |
| 606408 | EHLERS-DANLOS-LIKE SYNDROME DUE TO TENASCIN-X DEFICIENCY | 1 | |
| 600002 | EIKEN SKELETAL DYSPLASIA | 1 | |
| 130180 | ELECTROENCEPHALOGRAM, LOW-VOLTAGE | 1 | |
| 611804 | ELLIPTOCYTOSIS 1; EL1 | 1 | |
| 130600 | ELLIPTOCYTOSIS 2; EL2 | 1 | |
| 225500 | ELLIS-VAN CREVELD SYNDROME; EVC | 2 | |
| 609029 | EMANUEL SYNDROME | 1 | |
| 310300 | EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1 | 1 | |
| 181350 | EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT; EDMD2 | 1 | |
| 612998 | EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT; EDMD4 | 1 | |
| 612999 | EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT; EDMD5 | 1 | |
| 614302 | EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT; EDMD7 | 1 | |
| 608033 | ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3; IIAE3 | 1 | |
| 614212 | ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4; IIAE4 | 1 | |
| 602473 | ENCEPHALOPATHY, ETHYLMALONIC; EE | 1 | |
| 604218 | ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES; FENIB | 1 | |
| 614388 | ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL | 1 | |
| 300673 | ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS | 1 | |
| 612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA; ECO | 1 | |
| 608089 | ENDOMETRIAL CANCER | 4 | |
| 131200 | ENDOMETRIOSIS, SUSCEPTIBILITY TO, 1 | 1 | |
| 603034 | ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY; EAD | 1 | |
| 268100 | ENHANCED S-CONE SYNDROME; ESCS | 1 | |
| 226200 | ENTEROKINASE DEFICIENCY | 1 | |
| 600631 | ENURESIS, NOCTURNAL, 1; ENUR1 | 1 | |
| 600808 | ENURESIS, NOCTURNAL, 2; ENUR2 | 1 | |
| 261500 | EOSINOPHIL PEROXIDASE DEFICIENCY; EPXD | 1 | |
| 131400 | EOSINOPHILIA, FAMILIAL | 1 | |
| 226400 | EPIDERMODYSPLASIA VERRUCIFORMIS; EV | 2 | |
| 226500 | EPIDERMOLYSIS BULLOSA DYSTROPHICA NEUROTROPHICA | 1 | |
| 131750 | EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT; DDEB | 1 | |
| 226600 | EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE; RDEB | 2 | |
| 131850 | EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL | 1 | |
| 226730 | EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA | 3 | |
| 604129 | EPIDERMOLYSIS BULLOSA PRURIGINOSA | 1 | |
| 609352 | EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA | 1 | |
| 131960 | EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBS-MP | 1 | |
| 226670 | EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY | 1 | |
| 612138 | EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA | 1 | |
| 601001 | EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1; EBSB1 | 2 | |
| 615425 | EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2; EBSB2 | 1 | |
| 131760 | EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE | 2 | |
| 131900 | EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED | 2 | |
| 131800 | EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED | 3 | |
| 131950 | EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE | 1 | |
| 132000 | EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND | 1 | |
| 226700 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE | 3 | |
| 226650 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE | 5 | |
| 609638 | EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC | 1 | |
| 615028 | EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE; EBNS | 1 | |
| 113800 | EPIDERMOLYTIC HYPERKERATOSIS; EHK | 2 | |
| 600131 | EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 1; ECA1 | 1 | |
| 607681 | EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; ECA2 | 1 | |
| 612269 | EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5; ECA5 | 1 | |
| 611942 | EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6; ECA6 | 1 | |
| 601068 | EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1; FAME1 | 1 | |
| 607876 | EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2 | 1 | |
| 613608 | EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3; FAME3 | 1 | |
| 615127 | EPILEPSY, FAMILIAL ADULT MYOCLONIC, 4; FAME4 | 1 | |
| 615400 | EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5; FAME5 | 1 | |
| 604364 | EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI; FFEVF | 1 | |
| 600512 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1 | 1 | |
| 608096 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 2; ETL2 | 1 | |
| 611630 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 3; ETL3 | 1 | |
| 611631 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 4; ETL4 | 1 | |
| 614417 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 5; ETL5 | 1 | |
| 245570 | EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; | 1 | |
| 613339 | EPILEPSY, HOT WATER, 1; HWE1 | 1 | |
| 613340 | EPILEPSY, HOT WATER, 2; HWE2 | 1 | |
| 613060 | EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10; EIG10 | 1 | |
| 607628 | EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11; EIG11 | 1 | |
| 614847 | EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12; EIG12 | 1 | |
| 606972 | EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 2; EIG2 | 1 | |
| 608762 | EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 3; EIG3 | 1 | |
| 609750 | EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 4; EIG4 | 1 | |
| 611934 | EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 5; EIG5 | 1 | |
| 604827 | EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 7; EIG7 | 1 | |
| 612899 | EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8; EIG8 | 1 | |
| 607682 | EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; EIG9 | 1 | |
| 600669 | EPILEPSY, IDIOPATHIC GENERALIZED; EIG | 1 | |
| 607631 | EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1; EJA1 | 1 | |
| 611136 | EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5; EJM5 | 1 | |
| 614280 | EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 9; EJM9 | 1 | |
| 254770 | EPILEPSY, MYOCLONIC JUVENILE; EJM | 1 | |
| 600513 | EPILEPSY, NOCTURNAL FRONTAL LOBE, 1; ENFL1 | 1 | |
| 603204 | EPILEPSY, NOCTURNAL FRONTAL LOBE, 2; ENFL2 | 1 | |
| 605375 | EPILEPSY, NOCTURNAL FRONTAL LOBE, 3; ENFL3 | 1 | |
| 610353 | EPILEPSY, NOCTURNAL FRONTAL LOBE, 4; ENFL4 | 1 | |
| 615005 | EPILEPSY, NOCTURNAL FRONTAL LOBE, 5; ENFL5 | 1 | |
| 607221 | EPILEPSY, PARTIAL, WITH PERICENTRAL SPIKES; PEPS | 1 | |
| 612437 | EPILEPSY, PROGRESSIVE MYOCLONIC 1B; EPM1B | 1 | |
| 611726 | EPILEPSY, PROGRESSIVE MYOCLONIC 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; | 1 | |
| 254900 | EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE; | 1 | |
| 613832 | EPILEPSY, PROGRESSIVE MYOCLONIC 5; EPM5 | 1 | |
| 614018 | EPILEPSY, PROGRESSIVE MYOCLONIC 6; EPM6 | 1 | |
| 266100 | EPILEPSY, PYRIDOXINE-DEPENDENT; EPD | 1 | |
| 608105 | EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND | 1 | |
| 300491 | EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR | 1 | |
| 615369 | EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC | 1 | |
| 613402 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10; EIEE10 | 1 | |
| 613721 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11 | 1 | |
| 613722 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12; EIEE12 | 1 | |
| 614558 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13; EIEE13 | 1 | |
| 614959 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14; EIEE14 | 1 | |
| 615006 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15; EIEE15 | 1 | |
| 615338 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16; EIEE16 | 1 | |
| 615473 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17; EIEE17 | 1 | |
| 615476 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18; EIEE18 | 1 | |
| 308350 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1; EIEE1 | 1 | |
| 300672 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; EIEE2 | 1 | |
| 609304 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3; EIEE3 | 1 | |
| 612164 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4 | 1 | |
| 613477 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5; EIEE5 | 1 | |
| 613720 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7; EIEE7 | 1 | |
| 300607 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8; EIEE8 | 1 | |
| 300088 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9; EIEE9 | 1 | |
| 132400 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1 | 1 | |
| 600204 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 2; EDM2 | 1 | |
| 600969 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3 | 1 | |
| 226900 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 4; EDM4 | 1 | |
| 607078 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 5; EDM5 | 1 | |
| 614135 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6 | 1 | |
| 226980 | EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS | 1 | |
| 132450 | EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS; | 1 | |
| 160120 | EPISODIC ATAXIA, TYPE 1; EA1 | 1 | |
| 108500 | EPISODIC ATAXIA, TYPE 2; EA2 | 1 | |
| 606554 | EPISODIC ATAXIA, TYPE 3; EA3 | 1 | |
| 613855 | EPISODIC ATAXIA, TYPE 5; EA5 | 1 | |
| 612656 | EPISODIC ATAXIA, TYPE 6; EA6 | 1 | |
| 611907 | EPISODIC ATAXIA, TYPE 7; EA7 | 1 | |
| 128200 | EPISODIC KINESIGENIC DYSKINESIA 1; EKD1 | 1 | |
| 611031 | EPISODIC KINESIGENIC DYSKINESIA 2; EKD2 | 1 | |
| 300211 | EPISODIC MUSCLE WEAKNESS, X-LINKED; EMWX | 1 | |
| 615040 | EPISODIC PAIN SYNDROME, FAMILIAL; FEPS | 1 | |
| 300872 | EPSILON-TRIMETHYLLYSINE HYDROXYLASE DEFICIENCY; TMLHED | 1 | |
| 153650 | EPSTEIN SYNDROME | 1 | |
| 133020 | ERYTHERMALGIA, PRIMARY | 1 | |
| 612874 | ERYTHROCYTE AMP DEAMINASE DEFICIENCY | 1 | |
| 245340 | ERYTHROCYTE LACTATE TRANSPORTER DEFECT | 1 | |
| 133100 | ERYTHROCYTOSIS, FAMILIAL, 1; ECYT1 | 3 | |
| 263400 | ERYTHROCYTOSIS, FAMILIAL, 2; ECYT2 | 1 | |
| 609820 | ERYTHROCYTOSIS, FAMILIAL, 3; ECYT3 | 1 | |
| 611783 | ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4 | 1 | |
| 615508 | ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, | 1 | |
| 609165 | ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR; CRIE | 1 | |
| 133200 | ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA; EKVP | 2 | |
| 133239 | ESOPHAGEAL CANCER | 6 | |
| 610247 | ESOPHAGITIS, EOSINOPHILIC, 1; EOE1 | 1 | |
| 613412 | ESOPHAGITIS, EOSINOPHILIC, 2; EOE2 | 1 | |
| 615363 | ESTROGEN RESISTANCE; ESTRR | 1 | |
| 612219 | EWING SARCOMA; ES | 1 | |
| 177650 | EXFOLIATION SYNDROME; XFS | 1 | |
| 607936 | EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF | 1 | |
| 612714 | EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL | 1 | |
| 133700 | EXOSTOSES, MULTIPLE, TYPE I | 1 | |
| 133701 | EXOSTOSES, MULTIPLE, TYPE II | 1 | |
| 600209 | EXOSTOSES, MULTIPLE, TYPE III; EXT3 | 1 | |
| 133780 | EXUDATIVE VITREORETINOPATHY 1; EVR1 | 2 | |
| 305390 | EXUDATIVE VITREORETINOPATHY 2, X-LINKED; EVR2 | 1 | |
| 605750 | EXUDATIVE VITREORETINOPATHY 3; EVR3 | 1 | |
| 601813 | EXUDATIVE VITREORETINOPATHY 4; EVR4 | 1 | |
| 613310 | EXUDATIVE VITREORETINOPATHY 5; EVR5 | 1 | |
| 301500 | FABRY DISEASE | 1 | |
| 600251 | FACIAL CLEFTING, OBLIQUE, 1; OBLFC1 | 1 | |
| 615139 | FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE; FILS | 1 | |
| 601471 | FACIAL PARESIS, HEREDITARY CONGENITAL, 1; HCFP1 | 1 | |
| 604185 | FACIAL PARESIS, HEREDITARY CONGENITAL, 2; HCFP2 | 1 | |
| 614744 | FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3 | 1 | |
| 158900 | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1 | 1 | |
| 158901 | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2 | 1 | |
| 227300 | FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1; F5F8D1 | 1 | |
| 613625 | FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2; F5F8D2 | 1 | |
| 227400 | FACTOR V DEFICIENCY | 1 | |
| 227500 | FACTOR VII DEFICIENCY | 1 | |
| 227600 | FACTOR X DEFICIENCY | 1 | |
| 612416 | FACTOR XI DEFICIENCY | 1 | |
| 234000 | FACTOR XII DEFICIENCY | 1 | |
| 613225 | FACTOR XIII, A SUBUNIT, DEFICIENCY OF | 1 | |
| 613235 | FACTOR XIII, B SUBUNIT, DEFICIENCY OF | 1 | |
| 125350 | FAILURE OF TOOTH ERUPTION, PRIMARY; PFE | 1 | |
| 175100 | FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1 | 1 | |
| 608456 | FAMILIAL ADENOMATOUS POLYPOSIS, 2; FAP2 | 1 | |
| 120100 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1 | 1 | |
| 611762 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2; FCAS2 | 1 | |
| 614468 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3 | 1 | |
| 174810 | FAMILIAL EXPANSILE OSTEOLYSIS; FEO | 1 | |
| 134610 | FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT | 1 | |
| 249100 | FAMILIAL MEDITERRANEAN FEVER; FMF | 1 | |
| 227650 | FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA | 1 | |
| 300514 | FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB | 1 | |
| 227645 | FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC | 1 | |
| 605724 | FANCONI ANEMIA, COMPLEMENTATION GROUP D1; FANCD1 | 1 | |
| 227646 | FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2 | 1 | |
| 600901 | FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE | 1 | |
| 603467 | FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF | 1 | |
| 614082 | FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG | 1 | |
| 609053 | FANCONI ANEMIA, COMPLEMENTATION GROUP I; FANCI | 1 | |
| 609054 | FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ | 1 | |
| 614083 | FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL | 1 | |
| 614087 | FANCONI ANEMIA, COMPLEMENTATION GROUP M; FANCM | 1 | |
| 610832 | FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN | 1 | |
| 613390 | FANCONI ANEMIA, COMPLEMENTATION GROUP O; FANCO | 1 | |
| 613951 | FANCONI ANEMIA, COMPLEMENTATION GROUP P; FANCP | 1 | |
| 615272 | FANCONI ANEMIA, COMPLEMENTATION GROUP Q; FANCQ | 1 | |
| 134600 | FANCONI RENOTUBULAR SYNDROME 1; FRTS1 | 1 | |
| 613388 | FANCONI RENOTUBULAR SYNDROME 2; FRTS2 | 1 | |
| 227810 | FANCONI-BICKEL SYNDROME; FBS | 1 | |
| 228000 | FARBER LIPOGRANULOMATOSIS | 1 | |
| 606035 | FASTING INSULIN LEVEL QUANTITATIVE TRAIT LOCUS 1; FIQTL1 | 1 | |
| 612108 | FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 1; FGQTL1 | 1 | |
| 613219 | FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 2; FGQTL2 | 1 | |
| 613233 | FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 3; FGQTL3 | 1 | |
| 613462 | FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 4; FGQTL4 | 1 | |
| 613463 | FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5; FGQTL5 | 1 | |
| 613460 | FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 6; FGQTL6 | 1 | |
| 600072 | FATAL FAMILIAL INSOMNIA; FFI | 1 | |
| 613282 | FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1; NAFLD1 | 1 | |
| 613387 | FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2; NAFLD2 | 1 | |
| 134700 | FAVISM, SUSCEPTIBILITY TO | 1 | |
| 211500 | FAZIO-LONDE DISEASE | 1 | |
| 612637 | FEBRILE SEIZURES, FAMILIAL, 10 | 1 | |
| 614418 | FEBRILE SEIZURES, FAMILIAL, 11; FEB11 | 1 | |
| 121210 | FEBRILE SEIZURES, FAMILIAL, 1; FEB1 | 1 | |
| 602477 | FEBRILE SEIZURES, FAMILIAL, 2; FEB2 | 1 | |
| 604352 | FEBRILE SEIZURES, FAMILIAL, 4; FEB4 | 1 | |
| 609255 | FEBRILE SEIZURES, FAMILIAL, 5; FEB5 | 1 | |
| 609253 | FEBRILE SEIZURES, FAMILIAL, 6; FEB6 | 1 | |
| 611515 | FEBRILE SEIZURES, FAMILIAL, 7; FEB7 | 1 | |
| 611634 | FEBRILE SEIZURES, FAMILIAL, 9; FEB9 | 1 | |
| 153640 | FECHTNER SYNDROME; FTNS | 1 | |
| 134720 | FECUNDITY GENE, BOOROOLA, OF SHEEP, HOMOLOG OF | 1 | |
| 614326 | FEINGOLD SYNDROME 2; FGLDS2 | 1 | |
| 228300 | FERTILE EUNUCH SYNDROME | 1 | |
| 208150 | FETAL AKINESIA DEFORMATION SEQUENCE; FADS | 2 | |
| 141749 | FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1; HBFQTL1 | 3 | |
| 142470 | FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 2; HBFQTL2 | 1 | |
| 305435 | FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 3; HBFQTL3 | 1 | |
| 606789 | FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 4; HBFQTL4 | 1 | |
| 142335 | FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5; HBFQTL5 | 1 | |
| 613566 | FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6; HBFQTL6 | 1 | |
| 300321 | FG SYNDROME 2; FGS2 | 1 | |
| 300406 | FG SYNDROME 3; FGS3 | 1 | |
| 300422 | FG SYNDROME 4; FGS4 | 1 | |
| 300581 | FG SYNDROME 5; FGS5 | 1 | |
| 228520 | FIBROCHONDROGENESIS 1; FBCG1 | 1 | |
| 614524 | FIBROCHONDROGENESIS 2; FBCG2 | 1 | |
| 135100 | FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP | 1 | |
| 135300 | FIBROMATOSIS, GINGIVAL, 1; GINGF1 | 1 | |
| 605544 | FIBROMATOSIS, GINGIVAL, 2; GINGF2 | 1 | |
| 609955 | FIBROMATOSIS, GINGIVAL, 3; GINGF3 | 1 | |
| 611010 | FIBROMATOSIS, GINGIVAL, 4; GINGF4 | 1 | |
| 135700 | FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1; CFEOM1 | 1 | |
| 602078 | FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2; CFEOM2 | 1 | |
| 600638 | FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR | 1 | |
| 228930 | FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND | 1 | |
| 228900 | FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY | 1 | |
| 136120 | FISH-EYE DISEASE; FED | 1 | |
| 228980 | FLECK RETINA, FAMILIAL BENIGN; FRFB | 1 | |
| 136140 | FLOATING-HARBOR SYNDROME; FLHS | 1 | |
| 607341 | FOCAL CORTICAL DYSPLASIA OF TAYLOR; FCDT | 1 | |
| 305600 | FOCAL DERMAL HYPOPLASIA; FDH | 1 | |
| 227260 | FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3 | 1 | |
| 614974 | FOCAL FACIAL DERMAL DYSPLASIA 4; FFDD4 | 1 | |
| 603278 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1 | 1 | |
| 603965 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2; FSGS2 | 1 | |
| 607832 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO; FSGS3 | 1 | |
| 612551 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO; FSGS4 | 1 | |
| 613237 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5 | 1 | |
| 614131 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6; FSGS6 | 1 | |
| 229050 | FOLATE MALABSORPTION, HEREDITARY | 1 | |
| 229070 | FOLLICLE-STIMULATING HORMONE DEFICIENCY, ISOLATED | 1 | |
| 613024 | FOLLICULAR LYMPHOMA, SUSCEPTIBILITY TO, 1; FL1 | 1 | |
| 229100 | FORMIMINOTRANSFERASE DEFICIENCY | 1 | |
| 613606 | FORSYTHE-WAKELING SYNDROME; FWS | 1 | |
| 609218 | FOVEAL HYPOPLASIA AND ANTERIOR SEGMENT DYSGENESIS; FHASD | 1 | |
| 136520 | FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME | 1 | |
| 136640 | FRAGILE SITE 9q32 | 1 | |
| 300624 | FRAGILE X MENTAL RETARDATION SYNDROME | 1 | |
| 300623 | FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS | 1 | |
| 249420 | FRANK-TER HAAR SYNDROME; FTHS | 1 | |
| 219000 | FRASER SYNDROME | 3 | |
| 136680 | FRASIER SYNDROME | 1 | |
| 229300 | FRIEDREICH ATAXIA 1; FRDA | 1 | |
| 601992 | FRIEDREICH ATAXIA 2; FRDA2 | 1 | |
| 305620 | FRONTOMETAPHYSEAL DYSPLASIA; FMD | 1 | |
| 136760 | FRONTONASAL DYSPLASIA 1; FND1 | 1 | |
| 613451 | FRONTONASAL DYSPLASIA 2; FND2 | 1 | |
| 613456 | FRONTONASAL DYSPLASIA 3; FND3 | 1 | |
| 105550 | FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS; FTDALS | 1 | |
| 600795 | FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED; FTD3 | 1 | |
| 600274 | FRONTOTEMPORAL DEMENTIA; FTD | 2 | |
| 607485 | FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED | 1 | |
| 229600 | FRUCTOSE INTOLERANCE, HEREDITARY | 1 | |
| 229700 | FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY | 1 | |
| 229800 | FRUCTOSURIA, ESSENTIAL | 1 | |
| 230000 | FUCOSIDOSIS | 1 | |
| 613852 | FUCOSYLTRANSFERASE 6 DEFICIENCY | 1 | |
| 606812 | FUMARASE DEFICIENCY | 1 | |
| 136880 | FUNDUS ALBIPUNCTATUS | 4 | |
| 136900 | FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY; SFD | 1 | |
| 613163 | GABA-TRANSAMINASE DEFICIENCY | 1 | |
| 230200 | GALACTOKINASE DEFICIENCY | 1 | |
| 230350 | GALACTOSE EPIMERASE DEFICIENCY | 1 | |
| 230400 | GALACTOSEMIA | 1 | |
| 256540 | GALACTOSIALIDOSIS; GSL | 1 | |
| 600803 | GALLBLADDER DISEASE 1; GBD1 | 1 | |
| 609918 | GALLBLADDER DISEASE 2; GBD2 | 1 | |
| 609919 | GALLBLADDER DISEASE 3; GBD3 | 1 | |
| 611465 | GALLBLADDER DISEASE 4; GBD4 | 1 | |
| 230450 | GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE | 1 | |
| 230740 | GAPO SYNDROME | 1 | |
| 613659 | GASTRIC CANCER | 8 | |
| 137215 | GASTRIC CANCER, HEREDITARY DIFFUSE; HDGC | 4 | |
| 137245 | GASTRIC LYMPHOMA, PRIMARY | 1 | |
| 109350 | GASTROESOPHAGEAL REFLUX; GER | 1 | |
| 606764 | GASTROINTESTINAL STROMAL TUMOR; GIST | 4 | |
| 610539 | GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY | 1 | |
| 608013 | GAUCHER DISEASE, PERINATAL LETHAL | 1 | |
| 230800 | GAUCHER DISEASE, TYPE I | 1 | |
| 230900 | GAUCHER DISEASE, TYPE II | 1 | |
| 231000 | GAUCHER DISEASE, TYPE III | 1 | |
| 231005 | GAUCHER DISEASE, TYPE IIIC | 1 | |
| 607313 | GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS; HGPPS | 1 | |
| 231050 | GELEOPHYSIC DYSPLASIA 1; GPHYSD1 | 1 | |
| 614185 | GELEOPHYSIC DYSPLASIA 2; GPHYSD2 | 1 | |
| 608878 | GENE EXPRESSION, VARIATION IN, QUANTITATIVE TRAIT LOCUS ON CHROMOSOME | 1 | |
| 608875 | GENE EXPRESSION, VARIATION IN, QUANTITATIVE TRAIT LOCUS ON CHROMOSOME | 1 | |
| 609446 | GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA; GEPD | 1 | |
| 604233 | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1; GEFSP1 | 1 | |
| 604403 | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2; GEFSP2 | 1 | |
| 611277 | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3; GEFSP3 | 1 | |
| 609800 | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 4; GEFSP4 | 1 | |
| 612279 | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 6; GEFSP6 | 1 | |
| 613863 | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7; GEFSP7 | 1 | |
| 613828 | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 8; GEFSP8 | 1 | |
| 190100 | GENIOSPASM 1; GSM1 | 1 | |
| 606170 | GENITOPATELLAR SYNDROME; GTPTS | 1 | |
| 231070 | GERODERMA OSTEODYSPLASTICUM; GO | 1 | |
| 137440 | GERSTMANN-STRAUSSLER DISEASE; GSD | 1 | |
| 231095 | GHOSAL HEMATODIAPHYSEAL DYSPLASIA; GHDD | 1 | |
| 256850 | GIANT AXONAL NEUROPATHY 1; GAN1 | 1 | |
| 607457 | GIL BLOOD GROUP | 1 | |
| 143500 | GILBERT SYNDROME | 1 | |
| 137580 | GILLES DE LA TOURETTE SYNDROME; GTS | 1 | |
| 263800 | GITELMAN SYNDROME | 1 | |
| 273800 | GLANZMANN THROMBASTHENIA; GT | 2 | |
| 137750 | GLAUCOMA 1, OPEN ANGLE, A; GLC1A | 1 | |
| 606689 | GLAUCOMA 1, OPEN ANGLE, B; GLC1B | 1 | |
| 602429 | GLAUCOMA 1, OPEN ANGLE, D; GLC1D | 1 | |
| 603383 | GLAUCOMA 1, OPEN ANGLE, F; GLC1F | 1 | |
| 609887 | GLAUCOMA 1, OPEN ANGLE, G; GLC1G | 1 | |
| 611276 | GLAUCOMA 1, OPEN ANGLE, H; GLC1H | 1 | |
| 609745 | GLAUCOMA 1, OPEN ANGLE, I; GLC1I | 1 | |
| 608695 | GLAUCOMA 1, OPEN ANGLE, J; GLC1J | 1 | |
| 608696 | GLAUCOMA 1, OPEN ANGLE, K; GLC1K | 1 | |
| 610535 | GLAUCOMA 1, OPEN ANGLE, M; GLC1M | 1 | |
| 611274 | GLAUCOMA 1, OPEN ANGLE, N; GLC1N | 1 | |
| 613100 | GLAUCOMA 1, OPEN ANGLE, O; GLC1O | 1 | |
| 177700 | GLAUCOMA 1, OPEN ANGLE, P; GLC1P | 1 | |
| 601682 | GLAUCOMA 1, PRIMARY OPEN ANGLE, C; GLC1C | 1 | |
| 231300 | GLAUCOMA 3, PRIMARY CONGENITAL, A; GLC3A | 1 | |
| 613085 | GLAUCOMA 3, PRIMARY CONGENITAL, C; GLC3C | 1 | |
| 613086 | GLAUCOMA 3, PRIMARY CONGENITAL, D; GLC3D | 1 | |
| 600975 | GLAUCOMA 3, PRIMARY INFANTILE, B; GLC3B | 1 | |
| 606657 | GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO | 2 | |
| 137760 | GLAUCOMA, PRIMARY OPEN ANGLE; POAG | 1 | |
| 600510 | GLAUCOMA-RELATED PIGMENT DISPERSION SYNDROME; GPDS1 | 1 | |
| 137800 | GLIOMA SUSCEPTIBILITY 1; GLM1 | 3 | |
| 613028 | GLIOMA SUSCEPTIBILITY 2; GLM2 | 1 | |
| 613029 | GLIOMA SUSCEPTIBILITY 3; GLM3 | 1 | |
| 607248 | GLIOMA SUSCEPTIBILITY 4; GLM4 | 1 | |
| 613030 | GLIOMA SUSCEPTIBILITY 5; GLM5 | 1 | |
| 613031 | GLIOMA SUSCEPTIBILITY 6; GLM6 | 1 | |
| 613032 | GLIOMA SUSCEPTIBILITY 7; GLM7 | 1 | |
| 613033 | GLIOMA SUSCEPTIBILITY 8; GLM8 | 1 | |
| 609886 | GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA | 1 | |
| 137950 | GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1; GFND1 | 1 | |
| 601894 | GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2; GFND2 | 1 | |
| 138000 | GLOMUVENOUS MALFORMATIONS; GVM | 1 | |
| 202200 | GLUCOCORTICOID DEFICIENCY 1; GCCD1 | 1 | |
| 607398 | GLUCOCORTICOID DEFICIENCY 2; GCCD2 | 1 | |
| 609197 | GLUCOCORTICOID DEFICIENCY 3; GCCD3 | 1 | |
| 614736 | GLUCOCORTICOID DEFICIENCY 4; GCCD4 | 1 | |
| 614400 | GLUCOCORTICOID THERAPY, RESPONSE TO; GCTR | 1 | |
| 103900 | GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM; GRA | 1 | |
| 606824 | GLUCOSE/GALACTOSE MALABSORPTION; GGM | 1 | |
| 606777 | GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1 | 1 | |
| 612126 | GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2 | 1 | |
| 610015 | GLUTAMINE DEFICIENCY, CONGENITAL | 1 | |
| 231670 | GLUTARIC ACIDEMIA I | 1 | |
| 231690 | GLUTARIC ACIDURIA III | 1 | |
| 614164 | GLUTATHIONE PEROXIDASE DEFICIENCY; GPXD | 1 | |
| 231900 | GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA | 1 | |
| 266130 | GLUTATHIONE SYNTHETASE DEFICIENCY; GSSD | 1 | |
| 614411 | GLYCEROL QUANTITATIVE TRAIT LOCUS; GLYCQTL | 1 | |
| 605899 | GLYCINE ENCEPHALOPATHY; GCE | 3 | |
| 606664 | GLYCINE N-METHYLTRANSFERASE DEFICIENCY | 1 | |
| 240600 | GLYCOGEN STORAGE DISEASE 0, LIVER | 1 | |
| 611556 | GLYCOGEN STORAGE DISEASE 0, MUSCLE | 1 | |
| 232200 | GLYCOGEN STORAGE DISEASE Ia | 1 | |
| 232220 | GLYCOGEN STORAGE DISEASE Ib | 1 | |
| 232240 | GLYCOGEN STORAGE DISEASE Ic | 1 | |
| 232300 | GLYCOGEN STORAGE DISEASE II | 1 | |
| 232400 | GLYCOGEN STORAGE DISEASE III | 1 | |
| 232500 | GLYCOGEN STORAGE DISEASE IV | 1 | |
| 306000 | GLYCOGEN STORAGE DISEASE IXa1; GSD9A1 | 1 | |
| 261750 | GLYCOGEN STORAGE DISEASE IXb; GSD9B | 1 | |
| 613027 | GLYCOGEN STORAGE DISEASE IXc; GSD9C | 1 | |
| 261740 | GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL | 1 | |
| 232600 | GLYCOGEN STORAGE DISEASE V | 1 | |
| 232700 | GLYCOGEN STORAGE DISEASE VI | 1 | |
| 232800 | GLYCOGEN STORAGE DISEASE VII | 1 | |
| 261670 | GLYCOGEN STORAGE DISEASE X; GSD10 | 1 | |
| 612933 | GLYCOGEN STORAGE DISEASE XI; GSD11 | 1 | |
| 611881 | GLYCOGEN STORAGE DISEASE XII; GSD12 | 1 | |
| 612932 | GLYCOGEN STORAGE DISEASE XIII; GSD13 | 1 | |
| 612934 | GLYCOGEN STORAGE DISEASE XIV; GSD14 | 1 | |
| 613507 | GLYCOGEN STORAGE DISEASE XV; GSD15 | 1 | |
| 300559 | GLYCOGEN STORAGE DISEASE, TYPE IXd; GSD9D | 1 | |
| 610293 | GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY | 1 | |
| 230500 | GM1-GANGLIOSIDOSIS, TYPE I | 1 | |
| 230600 | GM1-GANGLIOSIDOSIS, TYPE II | 1 | |
| 230650 | GM1-GANGLIOSIDOSIS, TYPE III | 1 | |
| 272750 | GM2-GANGLIOSIDOSIS, AB VARIANT | 1 | |
| 166260 | GNATHODIAPHYSEAL DYSPLASIA; GDD | 1 | |
| 138800 | GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS; | 1 | |
| 300273 | GOITER, MULTINODULAR 2; MNG2 | 1 | |
| 606082 | GOITER, MULTINODULAR 3; MNG3 | 1 | |
| 609460 | GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME; GOSHS | 1 | |
| 602361 | GRACILE BONE DYSPLASIA; GCLEB | 1 | |
| 603358 | GRACILE SYNDROME | 1 | |
| 614395 | GRAFT-VERSUS-HOST DISEASE, SUSCEPTIBILITY TO; GVHDS | 1 | |
| 233690 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | 1 | |
| 233710 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, | 1 | |
| 233700 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, | 1 | |
| 613960 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, | 1 | |
| 306400 | GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGD | 1 | |
| 275000 | GRAVES DISEASE | 1 | |
| 603388 | GRAVES DISEASE, SUSCEPTIBILITY TO, 2 | 1 | |
| 300351 | GRAVES DISEASE, SUSCEPTIBILITY TO, X-LINKED 1 | 1 | |
| 139090 | GRAY PLATELET SYNDROME; GPS | 1 | |
| 175700 | GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS | 1 | |
| 214450 | GRISCELLI SYNDROME, TYPE 1; GS1 | 1 | |
| 607624 | GRISCELLI SYNDROME, TYPE 2; GS2 | 1 | |
| 609227 | GRISCELLI SYNDROME, TYPE 3; GS3 | 1 | |
| 475000 | GROWTH CONTROL, Y-CHROMOSOME INFLUENCED; GCY | 1 | |
| 245590 | GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY | 1 | |
| 612938 | GROWTH RETARDATION, DEVELOPMENTAL DELAY, COARSE FACIES, AND EARLY | 1 | |
| 139393 | GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS | 1 | |
| 258870 | GYRATE ATROPHY OF CHOROID AND RETINA; GACR | 1 | |
| 245010 | HAIM-MUNK SYNDROME; HMS | 1 | |
| 612630 | HAIR MORPHOLOGY 1; HRM1 | 1 | |
| 139450 | HAIR MORPHOLOGY 2; HRM2 | 1 | |
| 425500 | HAIRY EARS, Y-LINKED | 1 | |
| 605130 | HAIRY ELBOWS, SHORT STATURE, FACIAL DYSMORPHISM, AND DEVELOPMENTAL | 1 | |
| 102500 | HAJDU-CHENEY SYNDROME; HJCYS | 1 | |
| 611174 | HAMAMY SYNDROME; HMMS | 1 | |
| 139900 | HAND SKILL, RELATIVE; HSR | 1 | |
| 140000 | HAND-FOOT-GENITAL SYNDROME; HFG | 1 | |
| 234500 | HARTNUP DISORDER | 1 | |
| 140300 | HASHIMOTO THYROIDITIS | 1 | |
| 140350 | HAWKINSINURIA | 1 | |
| 613290 | HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO; CIHL | 1 | |
| 610140 | HEART-HAND SYNDROME, SLOVENIAN TYPE | 1 | |
| 140700 | HEINZ BODY ANEMIAS | 3 | |
| 600263 | HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO | 2 | |
| 602089 | HEMANGIOMA, CAPILLARY INFANTILE | 1 | |
| 609319 | HEMATOCRIT/HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1; HCHGQ1 | 1 | |
| 609320 | HEMATOCRIT/HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 2; HCHGQ2 | 1 | |
| 613284 | HEMATOCRIT/HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 3; HCHGQ3 | 1 | |
| 141200 | HEMATURIA, BENIGN FAMILIAL; BFH | 1 | |
| 614034 | HEME OXYGENASE 1 DEFICIENCY; HMOX1D | 1 | |
| 141400 | HEMIFACIAL MICROSOMIA WITH RADIAL DEFECTS | 1 | |
| 164210 | HEMIFACIAL MICROSOMIA; HFM | 1 | |
| 235000 | HEMIHYPERPLASIA, ISOLATED; IH | 1 | |
| 235200 | HEMOCHROMATOSIS, TYPE 1; HFE1 | 2 | |
| 602390 | HEMOCHROMATOSIS, TYPE 2A; HFE2A | 1 | |
| 613313 | HEMOCHROMATOSIS, TYPE 2B; HFE2B | 1 | |
| 604250 | HEMOCHROMATOSIS, TYPE 3; HFE3 | 1 | |
| 606069 | HEMOCHROMATOSIS, TYPE 4; HFE4 | 1 | |
| 615517 | HEMOCHROMATOSIS, TYPE 5; HFE5 | 1 | |
| 613978 | HEMOGLOBIN H DISEASE; HBH | 2 | |
| 612300 | HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY; | 1 | |
| 613470 | HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE | 1 | |
| 235700 | HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY | 1 | |
| 235400 | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1 | 3 | |
| 612922 | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2; AHUS2 | 1 | |
| 612923 | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3; AHUS3 | 1 | |
| 612924 | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4; AHUS4 | 1 | |
| 612925 | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5; AHUS5 | 1 | |
| 612926 | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6; AHUS6 | 1 | |
| 267700 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1 | 1 | |
| 603553 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2 | 1 | |
| 608898 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3 | 1 | |
| 603552 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 | 1 | |
| 613101 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5 | 1 | |
| 306900 | HEMOPHILIA B; HEMB | 1 | |
| 614519 | HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO; ICH | 3 | |
| 613730 | HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, | 1 | |
| 235510 | HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME | 1 | |
| 612356 | HEPARIN COFACTOR II DEFICIENCY | 1 | |
| 142330 | HEPATIC ADENOMAS, FAMILIAL | 1 | |
| 604201 | HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI | 1 | |
| 614025 | HEPATIC LIPASE DEFICIENCY | 1 | |
| 235550 | HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY; VODI | 1 | |
| 610424 | HEPATITIS B VIRUS, SUSCEPTIBILITY TO | 3 | |
| 609532 | HEPATITIS C VIRUS, SUSCEPTIBILITY TO | 4 | |
| 114550 | HEPATOCELLULAR CARCINOMA | 8 | |
| 600361 | HEREDITARY MOTOR AND SENSORY NEUROPATHY V | 1 | |
| 601152 | HEREDITARY MOTOR AND SENSORY NEUROPATHY VI | 1 | |
| 604484 | HEREDITARY MOTOR AND SENSORY NEUROPATHY, PROXIMAL TYPE; HMSNP | 1 | |
| 606071 | HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC; HMSN2C | 1 | |
| 603689 | HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE; HMERF | 1 | |
| 203300 | HERMANSKY-PUDLAK SYNDROME 1; HPS1 | 1 | |
| 608233 | HERMANSKY-PUDLAK SYNDROME 2; HPS2 | 1 | |
| 614072 | HERMANSKY-PUDLAK SYNDROME 3; HPS3 | 1 | |
| 614073 | HERMANSKY-PUDLAK SYNDROME 4; HPS4 | 1 | |
| 614074 | HERMANSKY-PUDLAK SYNDROME 5; HPS5 | 1 | |
| 614075 | HERMANSKY-PUDLAK SYNDROME 6; HPS6 | 1 | |
| 614076 | HERMANSKY-PUDLAK SYNDROME 7; HPS7 | 1 | |
| 614077 | HERMANSKY-PUDLAK SYNDROME 8; HPS8 | 1 | |
| 614171 | HERMANSKY-PUDLAK SYNDROME 9; HPS9 | 1 | |
| 610551 | HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1 | 1 | |
| 614849 | HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 3 | 1 | |
| 614850 | HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 4 | 1 | |
| 306955 | HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1 | 1 | |
| 605376 | HETEROTAXY, VISCERAL, 2, AUTOSOMAL; HTX2 | 1 | |
| 606325 | HETEROTAXY, VISCERAL, 3, AUTOSOMAL; HTX3 | 1 | |
| 613751 | HETEROTAXY, VISCERAL, 4, AUTOSOMAL; HTX4 | 1 | |
| 270100 | HETEROTAXY, VISCERAL, 5, AUTOSOMAL; HTX5 | 1 | |
| 614779 | HETEROTAXY, VISCERAL, 6, AUTOSOMAL; HTX6 | 1 | |
| 608098 | HETEROTOPIA, PERIVENTRICULAR, ASSOCIATED WITH CHROMOSOME 5p ANOMALIES | 1 | |
| 612881 | HETEROTOPIA, PERIVENTRICULAR, ASSOCIATED WITH CHROMOSOME 5q DELETION | 1 | |
| 608097 | HETEROTOPIA, PERIVENTRICULAR, AUTOSOMAL RECESSIVE | 1 | |
| 300537 | HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT | 1 | |
| 300049 | HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT | 1 | |
| 612797 | HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS | 1 | |
| 607687 | HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS | 1 | |
| 610761 | HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS | 1 | |
| 610239 | HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS | 1 | |
| 610762 | HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS | 1 | |
| 607053 | HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS | 1 | |
| 605201 | HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS | 1 | |
| 606613 | HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS | 1 | |
| 228960 | HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY | 1 | |
| 142669 | HIP DYSPLASIA, BEUKES TYPE | 1 | |
| 613870 | HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION | 1 | |
| 142623 | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1 | 1 | |
| 600155 | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2; HSCR2 | 1 | |
| 613711 | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3; HSCR3 | 1 | |
| 613712 | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4; HSCR4 | 1 | |
| 600156 | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 5; HSCR5 | 1 | |
| 606874 | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 6; HSCR6 | 1 | |
| 606875 | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 7; HSCR7 | 1 | |
| 608462 | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 8; HSCR8 | 1 | |
| 611644 | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 9; HSCR9 | 1 | |
| 235800 | HISTIDINEMIA | 1 | |
| 612160 | HISTIOCYTOMA, ANGIOMATOID FIBROUS | 1 | |
| 602782 | HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME | 1 | |
| 300221 | HODGKIN DISEASE, X-LINKED PSEUDOAUTOSOMAL | 1 | |
| 253270 | HOLOCARBOXYLASE SYNTHETASE DEFICIENCY | 1 | |
| 236100 | HOLOPROSENCEPHALY | 1 | |
| 614226 | HOLOPROSENCEPHALY 11; HPE11 | 1 | |
| 157170 | HOLOPROSENCEPHALY 2; HPE2 | 1 | |
| 142945 | HOLOPROSENCEPHALY 3; HPE3 | 1 | |
| 142946 | HOLOPROSENCEPHALY 4; HPE4 | 1 | |
| 609637 | HOLOPROSENCEPHALY 5; HPE5 | 1 | |
| 605934 | HOLOPROSENCEPHALY 6; HPE6 | 1 | |
| 610828 | HOLOPROSENCEPHALY 7; HPE7 | 1 | |
| 609408 | HOLOPROSENCEPHALY 8; HPE8 | 1 | |
| 610829 | HOLOPROSENCEPHALY 9; HPE9 | 1 | |
| 142900 | HOLT-ORAM SYNDROME; HOS | 1 | |
| 236200 | HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY | 1 | |
| 236250 | HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE | 1 | |
| 236270 | HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE; HMAE | 1 | |
| 250940 | HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE; HMAG | 1 | |
| 606528 | HOMOZYGOUS 11p15-p14 DELETION SYNDROME | 1 | |
| 122460 | HUMAN CORONAVIRUS SENSITIVITY; HCVS | 1 | |
| 614836 | HUMAN HERPESVIRUS 8, SUSCEPTIBILITY TO; HHV8S | 1 | |
| 609423 | HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO | 14 | |
| 603218 | HUNTINGTON DISEASE-LIKE 1; HDL1 | 1 | |
| 606438 | HUNTINGTON DISEASE-LIKE 2; HDL2 | 1 | |
| 604802 | HUNTINGTON DISEASE-LIKE 3; HDL3 | 1 | |
| 143100 | HUNTINGTON DISEASE; HD | 1 | |
| 607014 | HURLER SYNDROME | 1 | |
| 607015 | HURLER-SCHEIE SYNDROME | 1 | |
| 176670 | HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS | 1 | |
| 228600 | HYALINE FIBROMATOSIS SYNDROME; HFS | 1 | |
| 231090 | HYDATIDIFORM MOLE, RECURRENT, 1; HYDM1 | 1 | |
| 614293 | HYDATIDIFORM MOLE, RECURRENT, 2; HYDM2 | 1 | |
| 307000 | HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS; HSAS | 1 | |
| 236600 | HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1; HYC1 | 1 | |
| 615219 | HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2; HYC2 | 1 | |
| 236680 | HYDROLETHALUS SYNDROME 1; HLS1 | 1 | |
| 614120 | HYDROLETHALUS SYNDROME 2; HLS2 | 1 | |
| 215140 | HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA | 1 | |
| 614033 | HYDROXYACYL GLUTATHIONE HYDROLASE DEFICIENCY | 1 | |
| 260920 | HYPER-IgD SYNDROME; HIDS | 1 | |
| 147060 | HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT | 1 | |
| 243700 | HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE | 1 | |
| 605635 | HYPERALDOSTERONISM, FAMILIAL, TYPE II | 1 | |
| 613677 | HYPERALDOSTERONISM, FAMILIAL, TYPE III | 1 | |
| 143470 | HYPERALPHALIPOPROTEINEMIA 1; HALP1 | 1 | |
| 614028 | HYPERALPHALIPOPROTEINEMIA 2; HALP2 | 1 | |
| 237450 | HYPERBILIRUBINEMIA, ROTOR TYPE; HBLRR | 2 | |
| 237900 | HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL; HBLRTFN | 1 | |
| 614156 | HYPERBILIVERDINEMIA; HBLVD | 1 | |
| 143880 | HYPERCALCEMIA, INFANTILE | 1 | |
| 607258 | HYPERCALCIURIA, ABSORPTIVE, 1 | 1 | |
| 143870 | HYPERCALCIURIA, ABSORPTIVE, 2; HCA2 | 1 | |
| 115300 | HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT | 1 | |
| 143860 | HYPERCHLORHIDROSIS, ISOLATED | 1 | |
| 607748 | HYPERCHOLANEMIA, FAMILIAL; FHCA | 3 | |
| 603776 | HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3 | 1 | |
| 144010 | HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B | 1 | |
| 603813 | HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH | 1 | |
| 143890 | HYPERCHOLESTEROLEMIA, FAMILIAL | 7 | |
| 614619 | HYPEREKPLEXIA 2; HKPX2 | 1 | |
| 614618 | HYPEREKPLEXIA 3; HKPX3 | 1 | |
| 149400 | HYPEREKPLEXIA, HEREDITARY 1; HKPX1 | 2 | |
| 607685 | HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC; HES | 1 | |
| 600886 | HYPERFERRITINEMIA WITH OR WITHOUT CATARACT | 1 | |
| 307030 | HYPERGLYCEROLEMIA | 1 | |
| 138500 | HYPERGLYCINURIA | 3 | |
| 144110 | HYPERHIDROSIS PALMARIS ET PLANTARIS; HYPRPP | 1 | |
| 256450 | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1 | 1 | |
| 601820 | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2; HHF2 | 1 | |
| 602485 | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3; HHF3 | 1 | |
| 609975 | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4; HHF4 | 1 | |
| 609968 | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5; HHF5 | 1 | |
| 606762 | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6; HHF6 | 1 | |
| 610021 | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7 | 1 | |
| 170500 | HYPERKALEMIC PERIODIC PARALYSIS; HYPP | 1 | |
| 144150 | HYPERKERATOSIS LENTICULARIS PERSTANS; HLP | 1 | |
| 602491 | HYPERLIPIDEMIA, COMBINED, 1 | 1 | |
| 604499 | HYPERLIPIDEMIA, COMBINED, 2 | 1 | |
| 144250 | HYPERLIPIDEMIA, FAMILIAL COMBINED; FCHL | 1 | |
| 238600 | HYPERLIPOPROTEINEMIA, TYPE I | 1 | |
| 144650 | HYPERLIPOPROTEINEMIA, TYPE V | 1 | |
| 238700 | HYPERLYSINEMIA | 1 | |
| 613280 | HYPERMANGANESEMIA WITH DYSTONIA, POLYCYTHEMIA, AND CIRRHOSIS; HMDPC | 1 | |
| 614300 | HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY | 1 | |
| 613752 | HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY | 1 | |
| 238970 | HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME | 1 | |
| 239100 | HYPEROSTOSIS CORTICALIS GENERALISATA | 1 | |
| 144750 | HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS | 1 | |
| 259900 | HYPEROXALURIA, PRIMARY, TYPE I; HP1 | 1 | |
| 260000 | HYPEROXALURIA, PRIMARY, TYPE II; HP2 | 1 | |
| 613616 | HYPEROXALURIA, PRIMARY, TYPE III; HP3 | 1 | |
| 145000 | HYPERPARATHYROIDISM 1; HRPT1 | 1 | |
| 145001 | HYPERPARATHYROIDISM 2; HRPT2 | 1 | |
| 610071 | HYPERPARATHYROIDISM 3; HRPT3 | 1 | |
| 239200 | HYPERPARATHYROIDISM, NEONATAL SEVERE; NSHPT | 1 | |
| 261640 | HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A | 1 | |
| 233910 | HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B | 1 | |
| 261630 | HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C | 1 | |
| 264070 | HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D; HPABH4D | 1 | |
| 239300 | HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1; HPMRS1 | 1 | |
| 614749 | HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2; HPMRS2 | 1 | |
| 614207 | HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3 | 1 | |
| 145250 | HYPERPIGMENTATION, FAMILIAL PROGRESSIVE, 2; FPH2 | 1 | |
| 239500 | HYPERPROLINEMIA, TYPE I; HPI | 1 | |
| 239510 | HYPERPROLINEMIA, TYPE II; HPII | 1 | |
| 145290 | HYPERREFLEXIA; HRX | 1 | |
| 614187 | HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS; HPPD | 1 | |
| 112410 | HYPERTENSION WITH BRACHYDACTYLY | 1 | |
| 608622 | HYPERTENSION, DIASTOLIC, RESISTANCE TO | 1 | |
| 605115 | HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATION | 1 | |
| 145500 | HYPERTENSION, ESSENTIAL | 13 | |
| 603918 | HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 1 | 1 | |
| 604329 | HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 2 | 1 | |
| 607329 | HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 3 | 1 | |
| 608742 | HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 4 | 1 | |
| 610261 | HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 5 | 1 | |
| 610262 | HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 6 | 1 | |
| 610948 | HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 7 | 1 | |
| 611014 | HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 8; HYT8 | 1 | |
| 608026 | HYPERTENSIVE NEPHROPATHY; HNP1 | 1 | |
| 603373 | HYPERTHYROIDISM, FAMILIAL GESTATIONAL | 1 | |
| 609152 | HYPERTHYROIDISM, NONAUTOIMMUNE | 1 | |
| 135400 | HYPERTRICHOSIS TERMINALIS, GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA | 1 | |
| 145700 | HYPERTRICHOSIS UNIVERSALIS | 1 | |
| 145701 | HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE; HTC1 | 1 | |
| 307150 | HYPERTRICHOSIS, CONGENITAL GENERALIZED; HTC2 | 1 | |
| 145750 | HYPERTRIGLYCERIDEMIA, FAMILIAL | 1 | |
| 614480 | HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE; HTGTI | 1 | |
| 145900 | HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS | 4 | |
| 259100 | HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1 | 1 | |
| 614441 | HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2; PHOAR2 | 1 | |
| 613845 | HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS | 1 | |
| 162000 | HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1; HNFJ1 | 1 | |
| 613092 | HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 2; HNFJ2 | 1 | |
| 614227 | HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3; HNFJ3 | 1 | |
| 604091 | HYPOALPHALIPOPROTEINEMIA, PRIMARY | 2 | |
| 605019 | HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; FHBL2 | 1 | |
| 601198 | HYPOCALCEMIA, AUTOSOMAL DOMINANT 1; HYPOC1 | 1 | |
| 615361 | HYPOCALCEMIA, AUTOSOMAL DOMINANT 2; HYPOC2 | 1 | |
| 145980 | HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1 | 1 | |
| 145981 | HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II; HHC2 | 1 | |
| 600740 | HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III; HHC3 | 1 | |
| 146000 | HYPOCHONDROPLASIA; HCH | 1 | |
| 240800 | HYPOGLYCEMIA, LEUCINE-INDUCED; LIH | 1 | |
| 308700 | HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1 | 1 | |
| 614839 | HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA; HH10 | 1 | |
| 614840 | HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA; HH11 | 1 | |
| 614841 | HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA; HH12 | 1 | |
| 614842 | HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA; HH13 | 1 | |
| 614858 | HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA; HH14 | 1 | |
| 614880 | HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA; HH15 | 1 | |
| 614897 | HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA; HH16 | 1 | |
| 615266 | HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA; HH17 | 1 | |
| 615267 | HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA; HH18 | 1 | |
| 615269 | HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA; HH19 | 1 | |
| 147950 | HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2 | 1 | |
| 615270 | HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA; HH20 | 1 | |
| 615271 | HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA; HH21 | 1 | |
| 244200 | HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA; HH3 | 1 | |
| 610628 | HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA; HH4 | 1 | |
| 612370 | HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA; HH5 | 1 | |
| 612702 | HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA; HH6 | 1 | |
| 146110 | HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA; HH7 | 2 | |
| 614837 | HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA; HH8 | 1 | |
| 614838 | HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA; HH9 | 1 | |
| 240900 | HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY; HIHGHH | 1 | |
| 170400 | HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1; HOKPP1 | 1 | |
| 613345 | HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2; HOKPP2 | 1 | |
| 602014 | HYPOMAGNESEMIA 1, INTESTINAL; HOMG1 | 1 | |
| 154020 | HYPOMAGNESEMIA 2, RENAL; HOMG2 | 1 | |
| 248250 | HYPOMAGNESEMIA 3, RENAL; HOMG3 | 1 | |
| 611718 | HYPOMAGNESEMIA 4, RENAL; HOMG4 | 1 | |
| 248190 | HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT; HOMG5 | 1 | |
| 613882 | HYPOMAGNESEMIA 6, RENAL; HOMG6 | 1 | |
| 300337 | HYPOMELANOSIS OF ITO; HMI | 1 | |
| 615281 | HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG | 1 | |
| 612949 | HYPOMYELINATION, GLOBAL CEREBRAL | 1 | |
| 146200 | HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH | 2 | |
| 146255 | HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE; HDR | 1 | |
| 307700 | HYPOPARATHYROIDISM, X-LINKED; HYPX | 1 | |
| 241410 | HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRD | 1 | |
| 146300 | HYPOPHOSPHATASIA, ADULT | 1 | |
| 241510 | HYPOPHOSPHATASIA, CHILDHOOD | 1 | |
| 241500 | HYPOPHOSPHATASIA, INFANTILE | 1 | |
| 146350 | HYPOPHOSPHATEMIC BONE DISEASE; HBD | 1 | |
| 612089 | HYPOPHOSPHATEMIC RICKETS AND HYPERPARATHYROIDISM | 1 | |
| 241530 | HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH | 1 | |
| 193100 | HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR | 1 | |
| 241520 | HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 1; ARHR1 | 1 | |
| 613312 | HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2; ARHR2 | 1 | |
| 307800 | HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; XLHR | 1 | |
| 300554 | HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE | 1 | |
| 241550 | HYPOPLASTIC LEFT HEART SYNDROME 1; HLHS1 | 1 | |
| 614435 | HYPOPLASTIC LEFT HEART SYNDROME 2; HLHS2 | 1 | |
| 607236 | HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, | 1 | |
| 241600 | HYPOPROTEINEMIA, HYPERCATABOLIC | 1 | |
| 300633 | HYPOSPADIAS 1, X-LINKED; HYSP1 | 1 | |
| 300758 | HYPOSPADIAS 2, X-LINKED; HYSP2 | 1 | |
| 146450 | HYPOSPADIAS 3, AUTOSOMAL; HYSP3 | 1 | |
| 300856 | HYPOSPADIAS 4, X-LINKED, SUSCEPTIBILITY TO; HYSP4 | 1 | |
| 241800 | HYPOTHALAMIC HAMARTOMAS | 1 | |
| 241850 | HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE | 1 | |
| 300888 | HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT; CHTE | 1 | |
| 218700 | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2 | 1 | |
| 609893 | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 3; CHNG3 | 1 | |
| 275100 | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4; CHNG4 | 1 | |
| 225250 | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5; CHNG5 | 1 | |
| 614450 | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6 | 1 | |
| 615419 | HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC | 1 | |
| 606407 | HYPOTONIA-CYSTINURIA SYNDROME | 1 | |
| 614238 | HYPOTRICHOSIS 10; HYPT10 | 1 | |
| 615059 | HYPOTRICHOSIS 11; HYPT11 | 1 | |
| 605389 | HYPOTRICHOSIS 1; HYPT1 | 1 | |
| 146520 | HYPOTRICHOSIS 2; HYPT2 | 1 | |
| 613981 | HYPOTRICHOSIS 3; HYPT3 | 1 | |
| 146550 | HYPOTRICHOSIS 4; HYPT4 | 1 | |
| 612841 | HYPOTRICHOSIS 5; HYPT5 | 1 | |
| 607903 | HYPOTRICHOSIS 6; HYPT6 | 1 | |
| 604379 | HYPOTRICHOSIS 7; HYPT7 | 1 | |
| 278150 | HYPOTRICHOSIS 8; HYPT8 | 1 | |
| 614237 | HYPOTRICHOSIS 9; HYPT9 | 1 | |
| 613102 | HYPOTRICHOSIS AND RECURRENT SKIN VESICLES | 1 | |
| 601553 | HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY; HJMD | 1 | |
| 607823 | HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME; HLTS | 1 | |
| 220150 | HYPOURICEMIA, RENAL, 1; RHUC1 | 1 | |
| 612076 | HYPOURICEMIA, RENAL, 2; RHUC2 | 1 | |
| 146590 | ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE; IHCM | 1 | |
| 608649 | ICHTHYOSIS PREMATURITY SYNDROME; IPS | 1 | |
| 146700 | ICHTHYOSIS VULGARIS | 1 | |
| 610765 | ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE | 1 | |
| 146800 | ICHTHYOSIS, BULLOUS TYPE | 1 | |
| 615024 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10; ARCI10 | 1 | |
| 242300 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1; ARCI1 | 1 | |
| 242100 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2; ARCI2 | 2 | |
| 606545 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3; ARCI3 | 1 | |
| 601277 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A; ARCI4A | 1 | |
| 242500 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B; ARCI4B | 1 | |
| 604777 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5; ARCI5 | 1 | |
| 612281 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6; ARCI6 | 1 | |
| 615022 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 7; ARCI7 | 1 | |
| 613943 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8; ARCI8 | 1 | |
| 615023 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9; ARCI9 | 1 | |
| 607602 | ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS | 2 | |
| 602540 | ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS | 1 | |
| 607626 | ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS | 1 | |
| 614457 | ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION; ISQMR | 1 | |
| 308100 | ICHTHYOSIS, X-LINKED; XLI | 1 | |
| 308205 | IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME | 1 | |
| 161950 | IgA NEPHROPATHY, SUSCEPTIBILITY TO, 1; IGAN1 | 1 | |
| 613944 | IgA NEPHROPATHY, SUSCEPTIBILITY TO, 2; IGAN2 | 1 | |
| 147050 | IgE RESPONSIVENESS, ATOPIC; IGER | 8 | |
| 615207 | IL21R IMMUNODEFICIENCY | 1 | |
| 242600 | IMINOGLYCINURIA | 3 | |
| 146820 | IMMUNE RESPONSE TO SYNTHETIC POLYPEPTIDE--IRGAT; IGAT | 1 | |
| 146850 | IMMUNE SUPPRESSION; IS | 1 | |
| 612783 | IMMUNODEFICIENCY 10; IMD10 | 1 | |
| 615206 | IMMUNODEFICIENCY 11; IMD11 | 1 | |
| 615468 | IMMUNODEFICIENCY 12; IMD12 | 1 | |
| 615518 | IMMUNODEFICIENCY 13; IMD13 | 1 | |
| 615401 | IMMUNODEFICIENCY 8; IMD8 | 1 | |
| 612782 | IMMUNODEFICIENCY 9; IMD9 | 1 | |
| 610163 | IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA | 1 | |
| 610798 | IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN | 1 | |
| 613860 | IMMUNODEFICIENCY DUE TO FICOLIN 3 DEFICIENCY | 1 | |
| 308230 | IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1 | 1 | |
| 605258 | IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2; HIGM2 | 1 | |
| 606843 | IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3; HIGM3 | 1 | |
| 608106 | IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5; HIGM5 | 1 | |
| 300584 | IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA | 1 | |
| 607594 | IMMUNODEFICIENCY, COMMON VARIABLE, 1; CVID1 | 1 | |
| 240500 | IMMUNODEFICIENCY, COMMON VARIABLE, 2; CVID2 | 5 | |
| 613493 | IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3 | 1 | |
| 613494 | IMMUNODEFICIENCY, COMMON VARIABLE, 4; CVID4 | 1 | |
| 613495 | IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5 | 1 | |
| 613496 | IMMUNODEFICIENCY, COMMON VARIABLE, 6; CVID6 | 1 | |
| 614699 | IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7 | 1 | |
| 614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | 1 | |
| 300853 | IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS | 1 | |
| 242860 | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME | 1 | |
| 614069 | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME | 1 | |
| 304790 | IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED; | 1 | |
| 137100 | IMMUNOGLOBULIN A DEFICIENCY 1; IGAD1 | 1 | |
| 609529 | IMMUNOGLOBULIN A DEFICIENCY 2; IGAD2 | 1 | |
| 147061 | IMMUNOGLOBULIN E CONCENTRATION, SERUM; IGES | 1 | |
| 614102 | IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY; IGKCD | 1 | |
| 300076 | IMMUNONEUROLOGIC DISORDER, X-LINKED | 1 | |
| 242900 | IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE | 1 | |
| 600737 | INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE; IBM2 | 1 | |
| 605637 | INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT; IBM3 | 1 | |
| 167320 | INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT | 1 | |
| 615422 | INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT | 1 | |
| 615424 | INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT | 1 | |
| 308300 | INCONTINENTIA PIGMENTI; IP | 1 | |
| 613098 | INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC | 1 | |
| 243000 | INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE | 1 | |
| 614559 | INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD | 1 | |
| 615438 | INFANTILE LIVER FAILURE SYNDROME 1; ILFS1 | 1 | |
| 269920 | INFANTILE SIALIC ACID STORAGE DISORDER | 1 | |
| 613759 | INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND | 1 | |
| 611081 | INFLAMMATORY BOWEL DISEASE 10; IBD10 | 1 | |
| 191390 | INFLAMMATORY BOWEL DISEASE 11; IBD11 | 1 | |
| 612241 | INFLAMMATORY BOWEL DISEASE 12; IBD12 | 1 | |
| 612244 | INFLAMMATORY BOWEL DISEASE 13; IBD13 | 1 | |
| 612245 | INFLAMMATORY BOWEL DISEASE 14; IBD14 | 1 | |
| 612255 | INFLAMMATORY BOWEL DISEASE 15; IBD15 | 1 | |
| 612259 | INFLAMMATORY BOWEL DISEASE 16; IBD16 | 1 | |
| 612261 | INFLAMMATORY BOWEL DISEASE 17; IBD17 | 1 | |
| 612262 | INFLAMMATORY BOWEL DISEASE 18; IBD18 | 1 | |
| 612278 | INFLAMMATORY BOWEL DISEASE 19; IBD19 | 1 | |
| 266600 | INFLAMMATORY BOWEL DISEASE 1; IBD1 | 2 | |
| 612288 | INFLAMMATORY BOWEL DISEASE 20; IBD20 | 1 | |
| 612354 | INFLAMMATORY BOWEL DISEASE 21; IBD21 | 1 | |
| 612380 | INFLAMMATORY BOWEL DISEASE 22; IBD22 | 1 | |
| 612381 | INFLAMMATORY BOWEL DISEASE 23; IBD23 | 1 | |
| 612566 | INFLAMMATORY BOWEL DISEASE 24; IBD24 | 1 | |
| 612567 | INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25 | 1 | |
| 612639 | INFLAMMATORY BOWEL DISEASE 26; IBD26 | 1 | |
| 612796 | INFLAMMATORY BOWEL DISEASE 27; IBD27 | 1 | |
| 613148 | INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28 | 1 | |
| 601458 | INFLAMMATORY BOWEL DISEASE 2; IBD2 | 1 | |
| 604519 | INFLAMMATORY BOWEL DISEASE 3; IBD3 | 1 | |
| 606675 | INFLAMMATORY BOWEL DISEASE 4; IBD4 | 1 | |
| 606348 | INFLAMMATORY BOWEL DISEASE 5; IBD5 | 1 | |
| 606674 | INFLAMMATORY BOWEL DISEASE 6; IBD6 | 1 | |
| 605225 | INFLAMMATORY BOWEL DISEASE 7; IBD7 | 1 | |
| 606668 | INFLAMMATORY BOWEL DISEASE 8; IBD8 | 1 | |
| 608448 | INFLAMMATORY BOWEL DISEASE 9; IBD9 | 1 | |
| 614328 | INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL; NISBD | 1 | |
| 614680 | INFLUENZA, SEVERE, SUSCEPTIBILITY TO | 1 | |
| 613850 | INOSINE TRIPHOSPHATASE DEFICIENCY | 1 | |
| 256800 | INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA | 1 | |
| 608747 | INSULIN-LIKE GROWTH FACTOR I DEFICIENCY | 1 | |
| 270450 | INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO | 1 | |
| 603783 | INTELLIGENCE QUANTITATIVE TRAIT LOCUS 1 | 1 | |
| 610294 | INTELLIGENCE QUANTITATIVE TRAIT LOCUS 2 | 1 | |
| 610295 | INTELLIGENCE QUANTITATIVE TRAIT LOCUS 3 | 1 | |
| 606367 | INTERLEUKIN 2 RECEPTOR, ALPHA, DEFICIENCY OF | 1 | |
| 614752 | INTERLEUKIN 6, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS | 1 | |
| 614748 | INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, | 1 | |
| 614817 | INTERSTITIAL NEPHRITIS, KARYOMEGALIC; KMIN | 1 | |
| 263000 | INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL; DIP | 1 | |
| 603932 | INTERVERTEBRAL DISC DISEASE; IDD | 6 | |
| 243150 | INTESTINAL ATRESIA, MULTIPLE; MINAT | 1 | |
| 300048 | INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED | 1 | |
| 614732 | INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA | 1 | |
| 261000 | INTRINSIC FACTOR DEFICIENCY; IFD | 1 | |
| 610799 | INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1; IPD1 | 2 | |
| 300640 | INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2; IPD2 | 1 | |
| 607676 | IRAK4 DEFICIENCY | 1 | |
| 601631 | IRIDOGONIODYSGENESIS, TYPE 1; IRID1 | 1 | |
| 137600 | IRIDOGONIODYSGENESIS, TYPE 2; IRID2 | 1 | |
| 308500 | IRIS HYPOPLASIA WITH GLAUCOMA; IHG | 1 | |
| 206200 | IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA | 1 | |
| 611283 | ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY | 1 | |
| 262400 | ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA; IGHD1A | 1 | |
| 612781 | ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB; IGHD1B | 2 | |
| 173100 | ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II; IGHD2 | 1 | |
| 307200 | ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; IGHD3 | 1 | |
| 243500 | ISOVALERIC ACIDEMIA; IVA | 1 | |
| 147750 | IVIC SYNDROME | 1 | |
| 123150 | JACKSON-WEISS SYNDROME; JWS | 2 | |
| 147791 | JACOBSEN SYNDROME; JBS | 1 | |
| 217080 | JALILI SYNDROME | 1 | |
| 251255 | JAWAD SYNDROME; JWDS | 1 | |
| 220400 | JERVELL AND LANGE-NIELSEN SYNDROME 1; JLNS1 | 1 | |
| 612347 | JERVELL AND LANGE-NIELSEN SYNDROME 2; JLNS2 | 1 | |
| 243800 | JOHANSON-BLIZZARD SYNDROME; JBS | 1 | |
| 300804 | JOUBERT SYNDROME 10; JBTS10 | 1 | |
| 614173 | JOUBERT SYNDROME 13; JBTS13 | 1 | |
| 614424 | JOUBERT SYNDROME 14; JBTS14 | 1 | |
| 614464 | JOUBERT SYNDROME 15; JBTS15 | 1 | |
| 614465 | JOUBERT SYNDROME 16; JBTS16 | 1 | |
| 614615 | JOUBERT SYNDROME 17; JBTS17 | 1 | |
| 614815 | JOUBERT SYNDROME 18; JBTS18 | 1 | |
| 213300 | JOUBERT SYNDROME 1; JBTS1 | 8 | |
| 614970 | JOUBERT SYNDROME 20; JBTS20 | 1 | |
| 608091 | JOUBERT SYNDROME 2; JBTS2 | 1 | |
| 608629 | JOUBERT SYNDROME 3; JBTS3 | 1 | |
| 609583 | JOUBERT SYNDROME 4; JBTS4 | 1 | |
| 610188 | JOUBERT SYNDROME 5; JBTS5 | 1 | |
| 610688 | JOUBERT SYNDROME 6; JBTS6 | 1 | |
| 611560 | JOUBERT SYNDROME 7; JBTS7 | 1 | |
| 612291 | JOUBERT SYNDROME 8; JBTS8 | 1 | |
| 612285 | JOUBERT SYNDROME 9; JBTS9 | 1 | |
| 607785 | JUVENILE MYELOMONOCYTIC LEUKEMIA; JMML | 3 | |
| 174900 | JUVENILE POLYPOSIS SYNDROME; JPS | 2 | |
| 175050 | JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; | 1 | |
| 147920 | KABUKI SYNDROME 1; KABUK1 | 2 | |
| 300867 | KABUKI SYNDROME 2; KABUK2 | 1 | |
| 612713 | KAHRIZI SYNDROME; KHRZ | 1 | |
| 608207 | KALA-AZAR, SUSCEPTIBILITY TO, 1; KAZA1 | 1 | |
| 611381 | KALA-AZAR, SUSCEPTIBILITY TO, 2; KAZA2 | 1 | |
| 611382 | KALA-AZAR, SUSCEPTIBILITY TO, 3; KAZA3 | 1 | |
| 609242 | KANZAKI DISEASE | 1 | |
| 148000 | KAPOSI SARCOMA, SUSCEPTIBILITY TO | 1 | |
| 611775 | KAWASAKI DISEASE | 1 | |
| 148050 | KBG SYNDROME; KBGS | 1 | |
| 300323 | KELLEY-SEEGMILLER SYNDROME | 1 | |
| 244460 | KENNY-CAFFEY SYNDROME, TYPE 1; KCS1 | 1 | |
| 127000 | KENNY-CAFFEY SYNDROME, TYPE 2; KCS2 | 1 | |
| 148190 | KERATITIS, HEREDITARY | 1 | |
| 148210 | KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT | 1 | |
| 148300 | KERATOCONUS 1; KTCN1 | 1 | |
| 608932 | KERATOCONUS 2; KTCN2 | 1 | |
| 608586 | KERATOCONUS 3; KTCN3 | 1 | |
| 609271 | KERATOCONUS 4; KTCN4 | 1 | |
| 614622 | KERATOCONUS 5; KTCN5 | 1 | |
| 614623 | KERATOCONUS 6; KTCN6 | 1 | |
| 614629 | KERATOCONUS 7; KTCN7 | 1 | |
| 614628 | KERATOCONUS 8; KTCN8 | 1 | |
| 148600 | KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE IA; PPKP1A | 1 | |
| 614936 | KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE IB; PPKP1B | 1 | |
| 148350 | KERATODERMA, PALMOPLANTAR, WITH DEAFNESS | 1 | |
| 148370 | KERATOLYTIC WINTER ERYTHEMA | 1 | |
| 308800 | KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED; KFSDX | 2 | |
| 601952 | KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA | 1 | |
| 612908 | KERATOSIS PALMOPLANTARIS STRIATA II; PPKS2 | 1 | |
| 607654 | KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3 | 1 | |
| 182000 | KERATOSIS, SEBORRHEIC | 1 | |
| 245150 | KEUTEL SYNDROME | 1 | |
| 173650 | KINDLER SYNDROME | 1 | |
| 604161 | KISS1 RECEPTOR; KISS1R | 1 | |
| 610253 | KLEEFSTRA SYNDROME | 1 | |
| 118100 | KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 | 1 | |
| 214300 | KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE; KFS2 | 1 | |
| 613702 | KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT; KFS3 | 1 | |
| 149000 | KLIPPEL-TRENAUNAY-WEBER SYNDROME | 1 | |
| 156550 | KNIEST DYSPLASIA | 1 | |
| 267750 | KNOBLOCH SYNDROME 1; KNO1 | 1 | |
| 607486 | KNOPS BLOOD GROUP SYSTEM; KN | 1 | |
| 149200 | KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS | 1 | |
| 226750 | KOHLSCHUTTER-TONZ SYNDROME; KTZS | 1 | |
| 610443 | KOOLEN-DE VRIES SYNDROME; KDVS | 1 | |
| 262650 | KOWARSKI SYNDROME | 1 | |
| 245200 | KRABBE DISEASE | 1 | |
| 611722 | KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY | 1 | |
| 606693 | KUFOR-RAKEB SYNDROME; KRS | 1 | |
| 245300 | KURU, SUSCEPTIBILITY TO | 1 | |
| 610170 | KYPHOSCOLIOSIS 1; KYPSC1 | 1 | |
| 236792 | L-2-HYDROXYGLUTARIC ACIDURIA | 1 | |
| 149730 | LACRIMOAURICULODENTODIGITAL SYNDROME; LADD | 3 | |
| 223000 | LACTASE DEFICIENCY, CONGENITAL | 1 | |
| 614128 | LACTATE DEHYDROGENASE B DEFICIENCY; LDHBD | 1 | |
| 223100 | LACTOSE INTOLERANCE, ADULT TYPE | 1 | |
| 262500 | LARON SYNDROME | 1 | |
| 150250 | LARSEN SYNDROME; LRS | 1 | |
| 608545 | LARSEN-LIKE SYNDROME | 1 | |
| 150270 | LARYNGEAL ADDUCTOR PARALYSIS; LAP | 1 | |
| 245660 | LARYNGOONYCHOCUTANEOUS SYNDROME; LOCS | 1 | |
| 605670 | LATE-ONSET RETINAL DEGENERATION; LORD | 1 | |
| 601086 | LATERALITY DEFECTS, AUTOSOMAL DOMINANT | 1 | |
| 607330 | LATHOSTEROLOSIS | 1 | |
| 135750 | LAURIN-SANDROW SYNDROME | 1 | |
| 612729 | LEAN BODY MASS QUANTITATIVE TRAIT LOCUS 1; LBMQTL1 | 1 | |
| 611755 | LEBER CONGENITAL AMAUROSIS 10; LCA10 | 1 | |
| 613837 | LEBER CONGENITAL AMAUROSIS 11; LCA11 | 1 | |
| 610612 | LEBER CONGENITAL AMAUROSIS 12; LCA12 | 1 | |
| 612712 | LEBER CONGENITAL AMAUROSIS 13; LCA13 | 1 | |
| 613341 | LEBER CONGENITAL AMAUROSIS 14; LCA14 | 1 | |
| 613843 | LEBER CONGENITAL AMAUROSIS 15; LCA15 | 1 | |
| 614186 | LEBER CONGENITAL AMAUROSIS 16; LCA16 | 1 | |
| 615360 | LEBER CONGENITAL AMAUROSIS 17; LCA17 | 1 | |
| 204000 | LEBER CONGENITAL AMAUROSIS 1; LCA1 | 1 | |
| 204100 | LEBER CONGENITAL AMAUROSIS 2; LCA2 | 1 | |
| 604232 | LEBER CONGENITAL AMAUROSIS 3; LCA3 | 1 | |
| 604393 | LEBER CONGENITAL AMAUROSIS 4; LCA4 | 1 | |
| 604537 | LEBER CONGENITAL AMAUROSIS 5; LCA5 | 1 | |
| 613826 | LEBER CONGENITAL AMAUROSIS 6; LCA6 | 1 | |
| 613829 | LEBER CONGENITAL AMAUROSIS 7; LCA7 | 1 | |
| 613835 | LEBER CONGENITAL AMAUROSIS 8; LCA8 | 1 | |
| 608553 | LEBER CONGENITAL AMAUROSIS 9; LCA9 | 1 | |
| 535000 | LEBER OPTIC ATROPHY | 9 | |
| 308905 | LEBER OPTIC ATROPHY, SUSCEPTIBILITY TO | 1 | |
| 245900 | LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY | 1 | |
| 615396 | LEFT VENTRICULAR NONCOMPACTION 10; LVNC10 | 1 | |
| 604169 | LEFT VENTRICULAR NONCOMPACTION 1; LVNC1 | 1 | |
| 609470 | LEFT VENTRICULAR NONCOMPACTION 2; LVNC2 | 1 | |
| 615092 | LEFT VENTRICULAR NONCOMPACTION 7; LVNC7 | 1 | |
| 615373 | LEFT VENTRICULAR NONCOMPACTION 8; LVNC8 | 1 | |
| 150600 | LEGG-CALVE-PERTHES DISEASE; LCPD | 1 | |
| 608556 | LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO | 1 | |
| 611431 | LEGIUS SYNDROME | 1 | |
| 220111 | LEIGH SYNDROME, FRENCH CANADIAN TYPE; LSFC | 1 | |
| 308930 | LEIGH SYNDROME, X-LINKED | 1 | |
| 256000 | LEIGH SYNDROME; LS | 15 | |
| 150699 | LEIOMYOMA, UTERINE; UL | 1 | |
| 308940 | LEIOMYOMATOSIS, DIFFUSE, WITH ALPORT SYNDROME; DL-ATS | 1 | |
| 151001 | LENTIGINOSIS, INHERITED PATTERNED | 1 | |
| 151100 | LEOPARD SYNDROME 1 | 1 | |
| 611554 | LEOPARD SYNDROME 2 | 1 | |
| 613707 | LEOPARD SYNDROME 3 | 1 | |
| 609888 | LEPROSY, SUSCEPTIBILITY TO, 1; LPRS1 | 1 | |
| 607572 | LEPROSY, SUSCEPTIBILITY TO, 2; LPRS2 | 1 | |
| 246300 | LEPROSY, SUSCEPTIBILITY TO, 3; LPRS3 | 1 | |
| 610988 | LEPROSY, SUSCEPTIBILITY TO, 4; LPRS4 | 1 | |
| 613223 | LEPROSY, SUSCEPTIBILITY TO, 5; LPRS5 | 1 | |
| 613407 | LEPROSY, SUSCEPTIBILITY TO, 6; LPRS6 | 1 | |
| 614962 | LEPTIN DEFICIENCY; LEPD | 1 | |
| 614963 | LEPTIN RECEPTOR DEFICIENCY | 1 | |
| 601694 | LEPTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; LEPQTL1 | 1 | |
| 300322 | LESCH-NYHAN SYNDROME; LNS | 1 | |
| 611890 | LETHAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE; LAAHD | 1 | |
| 253310 | LETHAL CONGENITAL CONTRACTURE SYNDROME 1; LCCS1 | 1 | |
| 607598 | LETHAL CONGENITAL CONTRACTURE SYNDROME 2; LCCS2 | 1 | |
| 611369 | LETHAL CONGENITAL CONTRACTURE SYNDROME 3; LCCS3 | 1 | |
| 614915 | LETHAL CONGENITAL CONTRACTURE SYNDROME 4; LCCS4 | 1 | |
| 615368 | LETHAL CONGENITAL CONTRACTURE SYNDROME 5; LCCS5 | 1 | |
| 613067 | LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 2; ALL2 | 1 | |
| 613065 | LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL | 1 | |
| 601626 | LEUKEMIA, ACUTE MYELOID; AML | 21 | |
| 612558 | LEUKEMIA, CHRONIC LYMPHOCYTIC SUSCEPTIBILITY TO, 4 | 1 | |
| 612559 | LEUKEMIA, CHRONIC LYMPHOCYTIC SUSCEPTIBILITY TO, 5 | 1 | |
| 609630 | LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 1 | 1 | |
| 109543 | LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 2 | 1 | |
| 612557 | LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 3 | 1 | |
| 608232 | LEUKEMIA, CHRONIC MYELOID; CML | 1 | |
| 116920 | LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD | 1 | |
| 612840 | LEUKOCYTE ADHESION DEFICIENCY, TYPE III; LAD3 | 1 | |
| 169500 | LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT; ADLD | 1 | |
| 608804 | LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2 | 1 | |
| 260600 | LEUKODYSTROPHY, HYPOMYELINATING, 3; HLD3 | 1 | |
| 612233 | LEUKODYSTROPHY, HYPOMYELINATING, 4; HLD4 | 1 | |
| 610532 | LEUKODYSTROPHY, HYPOMYELINATING, 5; HLD5 | 1 | |
| 612438 | LEUKODYSTROPHY, HYPOMYELINATING, 6; HLD6 | 1 | |
| 607694 | LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR | 2 | |
| 614381 | LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR | 1 | |
| 611105 | LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND | 1 | |
| 613724 | LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY | 1 | |
| 300660 | LEUKOENCEPHALOPATHY WITH METAPHYSEAL CHONDRODYSPLASIA; LKMCD | 1 | |
| 603896 | LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM | 5 | |
| 612951 | LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY | 1 | |
| 221820 | LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS; HDLS | 1 | |
| 614037 | LEUKOTRIENE C4 SYNTHASE DEFICIENCY | 1 | |
| 238320 | LEYDIG CELL HYPOPLASIA, TYPE I | 1 | |
| 151623 | LI-FRAUMENI SYNDROME 1; LFS1 | 1 | |
| 609265 | LI-FRAUMENI SYNDROME 2; LFS2 | 1 | |
| 609266 | LI-FRAUMENI SYNDROME 3; LFS3 | 1 | |
| 177200 | LIDDLE SYNDROME | 2 | |
| 186550 | LIEBENBERG SYNDROME; LBNBG | 1 | |
| 606593 | LIG4 SYNDROME | 1 | |
| 609115 | LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G; LGMD1G | 1 | |
| 603543 | LIMB-MAMMARY SYNDROME; LMS | 1 | |
| 246650 | LIPASE DEFICIENCY, COMBINED | 1 | |
| 608594 | LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 | 1 | |
| 269700 | LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2 | 1 | |
| 612526 | LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3; CGL3 | 1 | |
| 613327 | LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4 | 1 | |
| 151660 | LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2 | 1 | |
| 604367 | LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; FPLD3 | 2 | |
| 613877 | LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4; FPLD4 | 1 | |
| 615238 | LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5; FPLD5 | 1 | |
| 608709 | LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO; APLD | 1 | |
| 201710 | LIPOID CONGENITAL ADRENAL HYPERPLASIA; LCAH | 1 | |
| 247100 | LIPOID PROTEINOSIS OF URBACH AND WIETHE | 1 | |
| 611771 | LIPOPROTEIN GLOMERULOPATHY; LPG | 1 | |
| 607432 | LISSENCEPHALY 1; LIS1 | 1 | |
| 257320 | LISSENCEPHALY 2; LIS2 | 1 | |
| 611603 | LISSENCEPHALY 3; LIS3 | 1 | |
| 614019 | LISSENCEPHALY 4; LIS4 | 1 | |
| 615191 | LISSENCEPHALY 5; LIS5 | 1 | |
| 300067 | LISSENCEPHALY, X-LINKED, 1; LISX1 | 1 | |
| 300215 | LISSENCEPHALY, X-LINKED, 2; LISX2 | 1 | |
| 613070 | LIVER FAILURE, INFANTILE, TRANSIENT; LFIT | 1 | |
| 609192 | LOEYS-DIETZ SYNDROME, TYPE 1A; LDS1A | 1 | |
| 610168 | LOEYS-DIETZ SYNDROME, TYPE 1B; LDS1B | 1 | |
| 608967 | LOEYS-DIETZ SYNDROME, TYPE 2A; LDS2A | 1 | |
| 610380 | LOEYS-DIETZ SYNDROME, TYPE 2B; LDS2B | 1 | |
| 613795 | LOEYS-DIETZ SYNDROME, TYPE 3; LDS3 | 1 | |
| 614816 | LOEYS-DIETZ SYNDROME, TYPE 4; LDS4 | 1 | |
| 611819 | LONG QT SYNDROME 10; LQT10 | 1 | |
| 611820 | LONG QT SYNDROME 11; LQT11 | 1 | |
| 612955 | LONG QT SYNDROME 12; LQT12 | 1 | |
| 613485 | LONG QT SYNDROME 13; LQT13 | 1 | |
| 192500 | LONG QT SYNDROME 1; LQT1 | 1 | |
| 613688 | LONG QT SYNDROME 2; LQT2 | 2 | |
| 603830 | LONG QT SYNDROME 3; LQT3 | 1 | |
| 613695 | LONG QT SYNDROME 5; LQT5 | 1 | |
| 613693 | LONG QT SYNDROME 6; LQT6 | 1 | |
| 611818 | LONG QT SYNDROME 9; LQT9 | 1 | |
| 609016 | LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY | 1 | |
| 152430 | LONGEVITY 1 | 1 | |
| 606460 | LONGEVITY 2 | 1 | |
| 613589 | LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS | 1 | |
| 309000 | LOWE OCULOCEREBRORENAL SYNDROME; OCRL | 1 | |
| 300260 | LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL | 1 | |
| 309520 | LUJAN-FRYNS SYNDROME | 1 | |
| 211980 | LUNG CANCER | 16 | |
| 608935 | LUNG CANCER SUSCEPTIBILITY 1; LNCR1 | 1 | |
| 612571 | LUNG CANCER SUSCEPTIBILITY 3; LNCR3 | 1 | |
| 612593 | LUNG CANCER SUSCEPTIBILITY 4; LNCR4 | 1 | |
| 614210 | LUNG CANCER SUSCEPTIBILITY 5; LNCR5 | 1 | |
| 247420 | LUTHERAN NULL | 1 | |
| 606690 | LYMPHANGIOLEIOMYOMATOSIS; LAM | 2 | |
| 153100 | LYMPHEDEMA, HEREDITARY, IA | 1 | |
| 611944 | LYMPHEDEMA, HEREDITARY, IB | 1 | |
| 613480 | LYMPHEDEMA, HEREDITARY, IC | 1 | |
| 614038 | LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA | 1 | |
| 153400 | LYMPHEDEMA-DISTICHIASIS SYNDROME | 1 | |
| 247640 | LYMPHOBLASTIC LEUKEMIA, ACUTE, WITH LYMPHOMATOUS FEATURES; LALL | 1 | |
| 236000 | LYMPHOMA, HODGKIN | 1 | |
| 605027 | LYMPHOMA, NON-HODGKIN, FAMILIAL | 3 | |
| 613011 | LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1 | 1 | |
| 615122 | LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2 | 1 | |
| 308240 | LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1; XLP1 | 2 | |
| 300635 | LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2 | 1 | |
| 120435 | LYNCH SYNDROME I | 2 | |
| 222700 | LYSINURIC PROTEIN INTOLERANCE; LPI | 1 | |
| 278000 | LYSOSOMAL ACID LIPASE DEFICIENCY | 1 | |
| 109150 | MACHADO-JOSEPH DISEASE; MJD | 1 | |
| 607131 | MACROCEPHALY WITH MULTIPLE EPIPHYSEAL DYSPLASIA AND DISTINCTIVE FACIES | 1 | |
| 613075 | MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS | 1 | |
| 614192 | MACROCEPHALY, MACROSOMIA, FACIAL DYSMORPHISM SYNDROME; MMFD | 1 | |
| 605309 | MACROCEPHALY/AUTISM SYNDROME | 1 | |
| 153600 | MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1; WM1 | 1 | |
| 610430 | MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 2; WM2 | 1 | |
| 602499 | MACROPHTHALMIA, COLOBOMATOUS, WITH MICROCORNEA; MACOM | 1 | |
| 613545 | MACROSTOMIA, ISOLATED | 1 | |
| 600208 | MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS | 1 | |
| 613112 | MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED | 1 | |
| 611488 | MACULAR DEGENERATION, AGE-RELATED, 10; ARMD10 | 1 | |
| 611953 | MACULAR DEGENERATION, AGE-RELATED, 11; ARMD11 | 1 | |
| 613784 | MACULAR DEGENERATION, AGE-RELATED, 12; ARMD12 | 1 | |
| 615439 | MACULAR DEGENERATION, AGE-RELATED, 13; ARMD13 | 1 | |
| 603075 | MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1 | 7 | |
| 153800 | MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2 | 1 | |
| 608895 | MACULAR DEGENERATION, AGE-RELATED, 3; ARMD3 | 1 | |
| 610698 | MACULAR DEGENERATION, AGE-RELATED, 4; ARMD4 | 1 | |
| 613761 | MACULAR DEGENERATION, AGE-RELATED, 5; ARMD5 | 1 | |
| 613757 | MACULAR DEGENERATION, AGE-RELATED, 6; ARMD6 | 1 | |
| 610149 | MACULAR DEGENERATION, AGE-RELATED, 7; ARMD7 | 1 | |
| 613778 | MACULAR DEGENERATION, AGE-RELATED, 8; ARMD8 | 1 | |
| 611378 | MACULAR DEGENERATION, AGE-RELATED, 9; ARMD9 | 1 | |
| 300834 | MACULAR DEGENERATION, X-LINKED ATROPHIC | 1 | |
| 153840 | MACULAR DYSTROPHY, ATYPICAL VITELLIFORM; VMD1 | 1 | |
| 608970 | MACULAR DYSTROPHY, BUTTERFLY-SHAPED PIGMENTARY, 2 | 1 | |
| 217800 | MACULAR DYSTROPHY, CORNEAL, 1; MCDC1 | 1 | |
| 136550 | MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE; MCDR1 | 1 | |
| 608051 | MACULAR DYSTROPHY, RETINAL, 2; MCDR2 | 1 | |
| 608850 | MACULAR DYSTROPHY, RETINAL, 3 | 1 | |
| 608161 | MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET | 2 | |
| 153700 | MACULAR DYSTROPHY, VITELLIFORM; VMD | 1 | |
| 153880 | MACULAR EDEMA, CYSTOID | 1 | |
| 266920 | MAINZER-SALDINO SYNDROME; MZSDS | 1 | |
| 609628 | MAJEED SYNDROME | 1 | |
| 125480 | MAJOR AFFECTIVE DISORDER 1; MAFD1 | 1 | |
| 309200 | MAJOR AFFECTIVE DISORDER 2; MAFD2 | 1 | |
| 609633 | MAJOR AFFECTIVE DISORDER 3; MAFD3 | 1 | |
| 611247 | MAJOR AFFECTIVE DISORDER 4; MAFD4 | 1 | |
| 611535 | MAJOR AFFECTIVE DISORDER 5; MAFD5 | 1 | |
| 611536 | MAJOR AFFECTIVE DISORDER 6; MAFD6 | 1 | |
| 612371 | MAJOR AFFECTIVE DISORDER 7; MAFD7 | 1 | |
| 612357 | MAJOR AFFECTIVE DISORDER 8; MAFD8 | 1 | |
| 612372 | MAJOR AFFECTIVE DISORDER 9; MAFD9 | 1 | |
| 608520 | MAJOR DEPRESSIVE DISORDER 1 | 1 | |
| 608691 | MAJOR DEPRESSIVE DISORDER 2 | 1 | |
| 608516 | MAJOR DEPRESSIVE DISORDER; MDD | 3 | |
| 248300 | MAL DE MELEDA | 1 | |
| 609148 | MALARIA, MILD, SUSCEPTIBILITY TO | 1 | |
| 611162 | MALARIA, SUSCEPTIBILITY TO | 16 | |
| 145600 | MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 | 1 | |
| 154275 | MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2 | 1 | |
| 154276 | MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 | 1 | |
| 600467 | MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 4 | 1 | |
| 601887 | MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 | 1 | |
| 601888 | MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 6 | 1 | |
| 248360 | MALONYL-CoA DECARBOXYLASE DEFICIENCY | 1 | |
| 613689 | MAMMARY-DIGITAL-NAIL SYNDROME; MDNS | 1 | |
| 615381 | MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY | 1 | |
| 248370 | MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA | 1 | |
| 608612 | MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB | 1 | |
| 610536 | MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE; MFDGA | 1 | |
| 248450 | MANITOBA OCULOTRICHOANAL SYNDROME; MOTA | 1 | |
| 614372 | MANNOSE-BINDING PROTEIN DEFICIENCY | 1 | |
| 248500 | MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA | 1 | |
| 248510 | MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB | 1 | |
| 615135 | MAPLE SYRUP URINE DISEASE, MILD VARIANT; MSUDMV | 1 | |
| 248600 | MAPLE SYRUP URINE DISEASE; MSUD | 3 | |
| 154700 | MARFAN SYNDROME; MFS | 1 | |
| 248800 | MARINESCO-SJOGREN SYNDROME; MSS | 1 | |
| 154780 | MARSHALL SYNDROME; MRSHS | 1 | |
| 602535 | MARSHALL-SMITH SYNDROME; MRSHSS | 1 | |
| 212720 | MARTSOLF SYNDROME | 1 | |
| 303350 | MASA SYNDROME | 1 | |
| 613791 | MASP2 DEFICIENCY | 1 | |
| 604308 | MASS SYNDROME | 1 | |
| 154800 | MAST CELL DISEASE | 1 | |
| 248900 | MAST SYNDROME | 1 | |
| 613370 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10 | 1 | |
| 613375 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11; MODY11 | 1 | |
| 125850 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1; MODY1 | 1 | |
| 125851 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; MODY2 | 1 | |
| 600496 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3; MODY3 | 1 | |
| 606392 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4; MODY4 | 1 | |
| 606394 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; MODY6 | 1 | |
| 610508 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7; MODY7 | 1 | |
| 609812 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION; | 1 | |
| 612225 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9; MODY9 | 1 | |
| 155100 | MAY-HEGGLIN ANOMALY; MHA | 1 | |
| 174800 | MCCUNE-ALBRIGHT SYNDROME; MAS | 1 | |
| 236700 | MCKUSICK-KAUFMAN SYNDROME; MKKS | 1 | |
| 300842 | MCLEOD SYNDROME; MCLDS | 1 | |
| 608978 | MEACHAM SYNDROME | 1 | |
| 612573 | MEAN PLATELET VOLUME QUANTITATIVE TRAIT LOCUS 1; MPVQTL1 | 1 | |
| 612574 | MEAN PLATELET VOLUME QUANTITATIVE TRAIT LOCUS 2; MPVQTL2 | 1 | |
| 612575 | MEAN PLATELET VOLUME QUANTITATIVE TRAIT LOCUS 3; MPVQTL3 | 1 | |
| 614644 | MEAN PLATELET VOLUME QUANTITATIVE TRAIT LOCUS 4; MPVQTL4 | 1 | |
| 614645 | MEAN PLATELET VOLUME QUANTITATIVE TRAIT LOCUS 5; MPVQTL5 | 1 | |
| 614646 | MEAN PLATELET VOLUME QUANTITATIVE TRAIT LOCUS 6; MPVQTL6 | 1 | |
| 614175 | MECKEL SYNDROME, TYPE 10; MKS10 | 1 | |
| 615397 | MECKEL SYNDROME, TYPE 11; MKS11 | 1 | |
| 249000 | MECKEL SYNDROME, TYPE 1; MKS1 | 1 | |
| 603194 | MECKEL SYNDROME, TYPE 2; MKS2 | 1 | |
| 607361 | MECKEL SYNDROME, TYPE 3; MKS3 | 1 | |
| 611134 | MECKEL SYNDROME, TYPE 4; MKS4 | 1 | |
| 611561 | MECKEL SYNDROME, TYPE 5; MKS5 | 1 | |
| 612284 | MECKEL SYNDROME, TYPE 6; MKS6 | 1 | |
| 267010 | MECKEL SYNDROME, TYPE 7; MKS7 | 1 | |
| 613885 | MECKEL SYNDROME, TYPE 8; MKS8 | 1 | |
| 614209 | MECKEL SYNDROME, TYPE 9; MKS9 | 1 | |
| 614665 | MECONIUM ILEUS | 1 | |
| 174000 | MEDULLARY CYSTIC KIDNEY DISEASE 1; MCKD1 | 1 | |
| 603860 | MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2 | 1 | |
| 155255 | MEDULLOBLASTOMA; MDB | 3 | |
| 604004 | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1; MLC1 | 2 | |
| 613925 | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A; MLC2A | 1 | |
| 613926 | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, | 1 | |
| 602501 | MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME; MCAP | 1 | |
| 603387 | MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME; | 3 | |
| 261100 | MEGALOBLASTIC ANEMIA 1 | 2 | |
| 613839 | MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY | 1 | |
| 249300 | MEGALOCORNEA | 1 | |
| 309300 | MEGALOCORNEA; MGC1 | 1 | |
| 224690 | MEIER-GORLIN SYNDROME 1; MGORS1 | 1 | |
| 613800 | MEIER-GORLIN SYNDROME 2; MGORS2 | 1 | |
| 613803 | MEIER-GORLIN SYNDROME 3; MGORS3 | 1 | |
| 613804 | MEIER-GORLIN SYNDROME 4; MGORS4 | 1 | |
| 613805 | MEIER-GORLIN SYNDROME 5; MGORS5 | 1 | |
| 155600 | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1; CMM1 | 1 | |
| 155601 | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2; CMM2 | 1 | |
| 609048 | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3; CMM3 | 1 | |
| 608035 | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 4; CMM4 | 1 | |
| 613099 | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5; CMM5 | 1 | |
| 613972 | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6; CMM6 | 1 | |
| 612263 | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7; CMM7 | 1 | |
| 614456 | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8; CMM8 | 1 | |
| 615134 | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9; CMM9 | 1 | |
| 606660 | MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1 | 1 | |
| 606661 | MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2 | 1 | |
| 155755 | MELANOMA-ASTROCYTOMA SYNDROME | 1 | |
| 606719 | MELANOMA-PANCREATIC CANCER SYNDROME | 1 | |
| 155900 | MELKERSSON-ROSENTHAL SYNDROME | 1 | |
| 309350 | MELNICK-NEEDLES SYNDROME; MNS | 1 | |
| 155950 | MELORHEOSTOSIS, ISOLATED | 1 | |
| 614692 | MEMBRANOUS NEPHROPATHY, SUSCEPTIBILITY TO; MBNP | 1 | |
| 610873 | MENARCHE, AGE AT, QUANTITATIVE TRAIT LOCUS 1; MENAQ1 | 1 | |
| 612882 | MENARCHE, AGE AT, QUANTITATIVE TRAIT LOCUS 2; MENAQ2 | 1 | |
| 612883 | MENARCHE, AGE AT, QUANTITATIVE TRAIT LOCUS 3; MENAQ3 | 1 | |
| 607174 | MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO | 6 | |
| 606190 | MENINGIOMA, RADIATION-INDUCED | 1 | |
| 309400 | MENKES DISEASE | 1 | |
| 300488 | MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 1; MENOQ1 | 1 | |
| 612884 | MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 2; MENOQ2 | 1 | |
| 612885 | MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 3; MENOQ3 | 1 | |
| 612886 | MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 4; MENOQ4 | 1 | |
| 603663 | MENTAL HEALTH WELLNESS 1 | 1 | |
| 603664 | MENTAL HEALTH WELLNESS 2 | 1 | |
| 300749 | MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; | 1 | |
| 613670 | MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES | 1 | |
| 309555 | MENTAL RETARDATION WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES | 1 | |
| 613671 | MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS; | 1 | |
| 614256 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 10; MRD10 | 1 | |
| 614257 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11 | 1 | |
| 614562 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 12; MRD12 | 1 | |
| 614563 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13 | 1 | |
| 614607 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 14; MRD14 | 1 | |
| 614608 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 15; MRD15 | 1 | |
| 614609 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 16; MRD16 | 1 | |
| 615009 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 17; MRD17 | 1 | |
| 615074 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18 | 1 | |
| 615075 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 19; MRD19 | 1 | |
| 156200 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1 | 1 | |
| 613443 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 20; MRD20 | 1 | |
| 615502 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21 | 1 | |
| 612337 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22 | 1 | |
| 614113 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 2; MRD2 | 1 | |
| 612580 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 3; MRD3 | 1 | |
| 612581 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 4; MRD4 | 1 | |
| 612621 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5 | 1 | |
| 613970 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 6; MRD6 | 1 | |
| 614104 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7 | 1 | |
| 614254 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 8; MRD8 | 1 | |
| 614255 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 9; MRD9 | 1 | |
| 611096 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 10; MRT10 | 1 | |
| 611097 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 11; MRT11 | 1 | |
| 611090 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12; MRT12 | 1 | |
| 613192 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13 | 1 | |
| 614020 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14; MRT14 | 1 | |
| 614202 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15 | 1 | |
| 614208 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 16; MRT16 | 1 | |
| 614249 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18; MRT18 | 1 | |
| 614343 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 19; MRT19 | 1 | |
| 249500 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1; MRT1 | 1 | |
| 614344 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 23; MRT23 | 1 | |
| 614345 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 24; MRT24 | 1 | |
| 614346 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 25; MRT25 | 1 | |
| 614340 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27; MRT27 | 1 | |
| 614347 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 28; MRT28 | 1 | |
| 614333 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 29; MRT29 | 1 | |
| 607417 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2; MRT2 | 1 | |
| 614342 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 30; MRT30 | 1 | |
| 614329 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 31; MRT31 | 1 | |
| 614339 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 32; MRT32 | 1 | |
| 614341 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 33; MRT33 | 1 | |
| 614499 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34; MRT34 | 1 | |
| 615162 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 35; MRT35 | 1 | |
| 615286 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36; MRT36 | 1 | |
| 615493 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37; MRT37 | 1 | |
| 615516 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38; MRT38 | 1 | |
| 615541 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39; MRT39 | 1 | |
| 608443 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3; MRT3 | 1 | |
| 611107 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 4; MRT4 | 1 | |
| 611091 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5 | 1 | |
| 611092 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6 | 1 | |
| 611093 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7; MRT7 | 1 | |
| 611094 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8; MRT8 | 1 | |
| 611095 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 9; MRT9 | 1 | |
| 609313 | MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, | 1 | |
| 300148 | MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, | 1 | |
| 136630 | MENTAL RETARDATION, FRA12A TYPE | 1 | |
| 606242 | MENTAL RETARDATION, MICROCEPHALY, GROWTH RETARDATION, JOINT CONTRACTURES, | 1 | |
| 602685 | MENTAL RETARDATION, SEVERE, WITH SPASTICITY AND PIGMENTARY TAPETORETINAL | 1 | |
| 309620 | MENTAL RETARDATION, SKELETAL DYSPLASIA, AND ABDUCENS PALSY; MRSD | 1 | |
| 610156 | MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS | 1 | |
| 300062 | MENTAL RETARDATION, X-LINKED 14; MRX14 | 1 | |
| 300705 | MENTAL RETARDATION, X-LINKED 17; MRX17 | 1 | |
| 300844 | MENTAL RETARDATION, X-LINKED 19; MRX19 | 1 | |
| 309530 | MENTAL RETARDATION, X-LINKED 1; MRX1 | 1 | |
| 300047 | MENTAL RETARDATION, X-LINKED 20; MRX20 | 1 | |
| 300143 | MENTAL RETARDATION, X-LINKED 21; MRX21 | 1 | |
| 300046 | MENTAL RETARDATION, X-LINKED 23; MRX23 | 1 | |
| 300428 | MENTAL RETARDATION, X-LINKED 2; MRX2 | 1 | |
| 300558 | MENTAL RETARDATION, X-LINKED 30; MRX30 | 1 | |
| 300849 | MENTAL RETARDATION, X-LINKED 41; MRX41 | 1 | |
| 300372 | MENTAL RETARDATION, X-LINKED 42; MRX42 | 1 | |
| 300498 | MENTAL RETARDATION, X-LINKED 45; MRX45 | 1 | |
| 300436 | MENTAL RETARDATION, X-LINKED 46; MRX46 | 1 | |
| 300114 | MENTAL RETARDATION, X-LINKED 49; MRX49 | 1 | |
| 300115 | MENTAL RETARDATION, X-LINKED 50; MRX50 | 1 | |
| 300504 | MENTAL RETARDATION, X-LINKED 52; MRX52 | 1 | |
| 300324 | MENTAL RETARDATION, X-LINKED 53; MRX53 | 1 | |
| 300210 | MENTAL RETARDATION, X-LINKED 58; MRX58 | 1 | |
| 300387 | MENTAL RETARDATION, X-LINKED 63; MRX63 | 1 | |
| 300271 | MENTAL RETARDATION, X-LINKED 72; MRX72 | 1 | |
| 300355 | MENTAL RETARDATION, X-LINKED 73; MRX73 | 1 | |
| 300454 | MENTAL RETARDATION, X-LINKED 77; MRX77 | 1 | |
| 300551 | MENTAL RETARDATION, X-LINKED 78; MRX78 | 1 | |
| 300433 | MENTAL RETARDATION, X-LINKED 81; MRX81 | 1 | |
| 300518 | MENTAL RETARDATION, X-LINKED 82; MRX82 | 1 | |
| 300505 | MENTAL RETARDATION, X-LINKED 84; MRX84 | 1 | |
| 300852 | MENTAL RETARDATION, X-LINKED 88; MRX88 | 1 | |
| 300848 | MENTAL RETARDATION, X-LINKED 89; MRX89 | 1 | |
| 300850 | MENTAL RETARDATION, X-LINKED 90; MRX90 | 1 | |
| 300577 | MENTAL RETARDATION, X-LINKED 91; MRX91 | 1 | |
| 300851 | MENTAL RETARDATION, X-LINKED 92; MRX92 | 1 | |
| 300659 | MENTAL RETARDATION, X-LINKED 93; MRX93 | 1 | |
| 300716 | MENTAL RETARDATION, X-LINKED 95; MRX95 | 1 | |
| 300802 | MENTAL RETARDATION, X-LINKED 96; MRX96 | 1 | |
| 300803 | MENTAL RETARDATION, X-LINKED 97; MRX97 | 1 | |
| 300912 | MENTAL RETARDATION, X-LINKED 98; MRX98 | 1 | |
| 309549 | MENTAL RETARDATION, X-LINKED 9; MRX9 | 1 | |
| 309548 | MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE | 1 | |
| 300220 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 10; MRXS10 | 1 | |
| 300238 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11 | 1 | |
| 309545 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 12; MRXS12 | 1 | |
| 300055 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 13; MRXS13 | 1 | |
| 300676 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14 | 1 | |
| 300858 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 17; MRXS17 | 1 | |
| 300886 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32 | 1 | |
| 300218 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 7; MRXS7 | 1 | |
| 300243 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; MRXSCH | 1 | |
| 300861 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHUDLEY-SCHWARTZ TYPE; MRXSCS | 1 | |
| 300534 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ | 1 | |
| 300630 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, FRIED TYPE; MRXSF | 1 | |
| 300423 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH | 1 | |
| 300519 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, MARTIN-PROBST TYPE; MRXSMP | 1 | |
| 300860 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN | 1 | |
| 300799 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE; MRXSR | 1 | |
| 309583 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR | 1 | |
| 300706 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE; MRXST | 1 | |
| 300699 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, WU TYPE; MRXSW | 1 | |
| 300486 | MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE | 1 | |
| 300419 | MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED; | 1 | |
| 300123 | MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISM | 1 | |
| 300360 | MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE | 1 | |
| 300354 | MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND | 1 | |
| 309580 | MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1 | 1 | |
| 600383 | MESOMELIA-SYNOSTOSES SYNDROME | 1 | |
| 156232 | MESOMELIC DYSPLASIA, KANTAPUTRA TYPE; MMDK | 1 | |
| 156240 | MESOTHELIOMA, MALIGNANT; MESOM | 1 | |
| 309630 | METACARPAL 4-5 FUSION; MF4 | 1 | |
| 156250 | METACHONDROMATOSIS; METCDS | 1 | |
| 250100 | METACHROMATIC LEUKODYSTROPHY | 1 | |
| 249900 | METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY | 1 | |
| 613073 | METAPHYSEAL ANADYSPLASIA 2; MANDP2 | 1 | |
| 156400 | METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE | 1 | |
| 156500 | METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS | 1 | |
| 156510 | METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY; | 1 | |
| 250460 | METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS | 1 | |
| 156530 | METATROPIC DYSPLASIA | 1 | |
| 250800 | METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE | 1 | |
| 250790 | METHEMOGLOBINEMIA TYPE IV | 1 | |
| 250850 | METHIONINE ADENOSYLTRANSFERASE DEFICIENCY | 1 | |
| 614105 | METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; MMSDHD | 1 | |
| 309541 | METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE | 1 | |
| 277400 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE | 1 | |
| 277410 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE | 1 | |
| 277380 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE | 1 | |
| 614857 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE; MAHCJ | 1 | |
| 251000 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY | 1 | |
| 613646 | METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT | 1 | |
| 251100 | METHYLMALONIC ACIDURIA, cblA TYPE | 1 | |
| 251110 | METHYLMALONIC ACIDURIA, cblB TYPE | 1 | |
| 251120 | METHYLMALONYL-CoA EPIMERASE DEFICIENCY | 1 | |
| 610377 | MEVALONIC ACIDURIA; MEVA | 1 | |
| 210710 | MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I; MOPD1 | 1 | |
| 210720 | MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2 | 1 | |
| 251200 | MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE; MCPH1 | 1 | |
| 615095 | MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE; MCPH10 | 1 | |
| 615414 | MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE; MCPH11 | 1 | |
| 604317 | MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL | 1 | |
| 604804 | MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE; MCPH3 | 1 | |
| 604321 | MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE; MCPH4 | 1 | |
| 608716 | MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5 | 1 | |
| 608393 | MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE; MCPH6 | 1 | |
| 612703 | MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE; MCPH7 | 1 | |
| 614673 | MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE; MCPH8 | 1 | |
| 614852 | MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE; MCPH9 | 1 | |
| 251270 | MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION, | 1 | |
| 152950 | MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL | 1 | |
| 607196 | MICROCEPHALY, AMISH TYPE; MCPHA | 1 | |
| 614231 | MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME; MEDS | 1 | |
| 613668 | MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY | 1 | |
| 614261 | MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME; MICCAP | 1 | |
| 156600 | MICROCORIA, CONGENITAL | 1 | |
| 615458 | MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS; MMCAT | 1 | |
| 605013 | MICROHYDRANENCEPHALY; MHAC | 1 | |
| 206920 | MICROPHTHALMIA WITH LIMB ANOMALIES | 1 | |
| 251600 | MICROPHTHALMIA, ISOLATED 1; MCOP1 | 1 | |
| 610093 | MICROPHTHALMIA, ISOLATED 2; MCOP2 | 1 | |
| 611038 | MICROPHTHALMIA, ISOLATED 3; MCOP3 | 1 | |
| 613094 | MICROPHTHALMIA, ISOLATED 4; MCOP4 | 1 | |
| 611040 | MICROPHTHALMIA, ISOLATED 5; MCOP5 | 1 | |
| 613517 | MICROPHTHALMIA, ISOLATED 6; MCOP6 | 1 | |
| 613704 | MICROPHTHALMIA, ISOLATED 7; MCOP7 | 1 | |
| 615113 | MICROPHTHALMIA, ISOLATED 8; MCOP8 | 1 | |
| 156850 | MICROPHTHALMIA, ISOLATED, WITH CATARACT 1; MCOPCT1 | 1 | |
| 212550 | MICROPHTHALMIA, ISOLATED, WITH CATARACT 2; MCOPCT2 | 1 | |
| 300345 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 1; MCOPCB1 | 1 | |
| 605738 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 2; MCOPCB2 | 1 | |
| 610092 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3 | 1 | |
| 611638 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5; MCOPCB5 | 1 | |
| 613703 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6 | 2 | |
| 614497 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7; MCOPCB7 | 1 | |
| 615145 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9; MCOPCB9 | 1 | |
| 614402 | MICROPHTHALMIA, SYNDROMIC 11; MCOPS11 | 1 | |
| 615524 | MICROPHTHALMIA, SYNDROMIC 12; MCOPS12 | 1 | |
| 309800 | MICROPHTHALMIA, SYNDROMIC 1; MCOPS1 | 1 | |
| 300166 | MICROPHTHALMIA, SYNDROMIC 2; MCOPS2 | 1 | |
| 206900 | MICROPHTHALMIA, SYNDROMIC 3; MCOPS3 | 2 | |
| 301590 | MICROPHTHALMIA, SYNDROMIC 4; MCOPS4 | 1 | |
| 610125 | MICROPHTHALMIA, SYNDROMIC 5; MCOPS5 | 1 | |
| 607932 | MICROPHTHALMIA, SYNDROMIC 6; MCOPS6 | 1 | |
| 309801 | MICROPHTHALMIA, SYNDROMIC 7; MCOPS7 | 1 | |
| 601186 | MICROPHTHALMIA, SYNDROMIC 9; MCOPS9 | 1 | |
| 251750 | MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH | 1 | |
| 611863 | MICROTIA WITH NASOLACRIMAL DUCT IMPERFORATION AND EYE COLOBOMA | 1 | |
| 612290 | MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE | 1 | |
| 603933 | MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1; MVCD1 | 1 | |
| 612623 | MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2; MVCD2 | 1 | |
| 612624 | MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3; MVCD3 | 1 | |
| 612628 | MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 4; MVCD4 | 1 | |
| 612633 | MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 5; MVCD5 | 1 | |
| 612634 | MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6; MVCD6 | 1 | |
| 612635 | MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7; MVCD7 | 1 | |
| 609179 | MIGRAINE WITH AURA, SUSCEPTIBILITY TO, 7 | 1 | |
| 609670 | MIGRAINE WITH AURA, SUSCEPTIBILITY TO, 9 | 1 | |
| 157300 | MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 | 1 | |
| 611706 | MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 12; MGR12 | 1 | |
| 607498 | MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 3 | 1 | |
| 607508 | MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 5 | 1 | |
| 607516 | MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 6 | 1 | |
| 609570 | MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 8 | 1 | |
| 607501 | MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO, 4 | 1 | |
| 141500 | MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1 | 1 | |
| 602481 | MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2 | 1 | |
| 609634 | MIGRAINE, FAMILIAL HEMIPLEGIC, 3; FHM3 | 1 | |
| 300125 | MIGRAINE, FAMILIAL TYPICAL, SUSCEPTIBILITY TO, 2 | 1 | |
| 613656 | MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13; MGR13 | 1 | |
| 309605 | MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME; MCS | 1 | |
| 255320 | MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA | 1 | |
| 157600 | MIRROR MOVEMENTS 1; MRMV1 | 1 | |
| 614508 | MIRROR MOVEMENTS 2; MRMV2 | 1 | |
| 276300 | MISMATCH REPAIR CANCER SYNDROME; MMRCS | 4 | |
| 252010 | MITOCHONDRIAL COMPLEX I DEFICIENCY | 17 | |
| 252011 | MITOCHONDRIAL COMPLEX II DEFICIENCY | 2 | |
| 124000 | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1; MC3DN1 | 1 | |
| 615157 | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2; MC3DN2 | 1 | |
| 615158 | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3; MC3DN3 | 1 | |
| 615159 | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4; MC3DN4 | 1 | |
| 615160 | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5; MC3DN5 | 1 | |
| 615453 | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6; MC3DN6 | 1 | |
| 220110 | MITOCHONDRIAL COMPLEX IV DEFICIENCY | 4 | |
| 604273 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; | 1 | |
| 614052 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2; | 1 | |
| 614053 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3; | 1 | |
| 615228 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4; | 1 | |
| 603041 | MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE); MTDPS1 | 1 | |
| 615084 | MITOCHONDRIAL DNA DEPLETION SYNDROME 11; MTDPS11 | 1 | |
| 615418 | MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE); MTDPS12 | 1 | |
| 615471 | MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE); | 1 | |
| 609560 | MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE); MTDPS2 | 1 | |
| 251880 | MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE); MTDPS3 | 1 | |
| 203700 | MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A | 1 | |
| 613662 | MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B | 1 | |
| 612073 | MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR | 1 | |
| 256810 | MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE); MTDPS6 | 1 | |
| 271245 | MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE); MTDPS7 | 1 | |
| 612075 | MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH | 1 | |
| 245400 | MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH | 1 | |
| 251900 | MITOCHONDRIAL MYOPATHY | 1 | |
| 540000 | MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE | 17 | |
| 551000 | MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE; LIMM | 1 | |
| 610773 | MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY | 1 | |
| 614741 | MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY; MPYCD | 1 | |
| 157700 | MITRAL VALVE PROLAPSE, FAMILIAL; MVP | 1 | |
| 607829 | MITRAL VALVE PROLAPSE, MYXOMATOUS 2; MMVP2 | 1 | |
| 610840 | MITRAL VALVE PROLAPSE, MYXOMATOUS 3; MMVP3 | 1 | |
| 254130 | MIYOSHI MUSCULAR DYSTROPHY 1; MMD1 | 1 | |
| 613318 | MIYOSHI MUSCULAR DYSTROPHY 2; MMD2 | 1 | |
| 613319 | MIYOSHI MUSCULAR DYSTROPHY 3; MMD3 | 1 | |
| 157900 | MOEBIUS SYNDROME; MBS | 1 | |
| 304700 | MOHR-TRANEBJAERG SYNDROME; MTS | 1 | |
| 252150 | MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A; MOCODA | 1 | |
| 252160 | MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B; MOCODB | 1 | |
| 615501 | MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C; MOCODC | 1 | |
| 158000 | MONILETHRIX | 3 | |
| 614894 | MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE | 1 | |
| 613353 | MONONEUROPATHY OF THE MEDIAN NERVE, MILD; MNMN | 1 | |
| 252270 | MONOSOMY 7 OF BONE MARROW | 1 | |
| 257300 | MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 | 1 | |
| 614114 | MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2; MVA2 | 1 | |
| 235730 | MOWAT-WILSON SYNDROME; MOWS | 1 | |
| 252350 | MOYAMOYA DISEASE 1; MYMY1 | 1 | |
| 607151 | MOYAMOYA DISEASE 2; MYMY2 | 1 | |
| 608796 | MOYAMOYA DISEASE 3; MYMY3 | 1 | |
| 300845 | MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, | 1 | |
| 614042 | MOYAMOYA DISEASE 5; MYMY5 | 1 | |
| 191900 | MUCKLE-WELLS SYNDROME; MWS | 1 | |
| 252500 | MUCOLIPIDOSIS II ALPHA/BETA | 1 | |
| 252600 | MUCOLIPIDOSIS III ALPHA/BETA | 1 | |
| 252605 | MUCOLIPIDOSIS III GAMMA | 1 | |
| 252650 | MUCOLIPIDOSIS IV | 1 | |
| 309900 | MUCOPOLYSACCHARIDOSIS TYPE II | 1 | |
| 252900 | MUCOPOLYSACCHARIDOSIS TYPE IIIA | 1 | |
| 252920 | MUCOPOLYSACCHARIDOSIS TYPE IIIB | 1 | |
| 252930 | MUCOPOLYSACCHARIDOSIS TYPE IIIC | 1 | |
| 252940 | MUCOPOLYSACCHARIDOSIS TYPE IIID | 1 | |
| 253000 | MUCOPOLYSACCHARIDOSIS TYPE IVA | 1 | |
| 253010 | MUCOPOLYSACCHARIDOSIS TYPE IVB | 1 | |
| 601492 | MUCOPOLYSACCHARIDOSIS TYPE IX | 1 | |
| 253200 | MUCOPOLYSACCHARIDOSIS TYPE VI | 1 | |
| 253220 | MUCOPOLYSACCHARIDOSIS TYPE VII | 1 | |
| 602849 | MUENKE SYNDROME; MNKES | 1 | |
| 158320 | MUIR-TORRE SYNDROME; MRTES | 2 | |
| 253250 | MULIBREY NANISM | 1 | |
| 158330 | MULLERIAN APLASIA AND HYPERANDROGENISM | 1 | |
| 166300 | MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; MCTO | 1 | |
| 259600 | MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA | 1 | |
| 143400 | MULTICYSTIC RENAL DYSPLASIA, BILATERAL; MCRD | 1 | |
| 231680 | MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD | 3 | |
| 614080 | MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1 | 1 | |
| 300868 | MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2; MCAHS2 | 1 | |
| 615398 | MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3; MCAHS3 | 1 | |
| 131100 | MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1 | 1 | |
| 171400 | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A | 1 | |
| 162300 | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B | 1 | |
| 610755 | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV; MEN4 | 1 | |
| 245600 | MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, | 2 | |
| 605711 | MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1; MMDS1 | 1 | |
| 614299 | MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2; MMDS2 | 1 | |
| 615330 | MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3 | 2 | |
| 265000 | MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS | 1 | |
| 253290 | MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE; LMPS | 3 | |
| 612594 | MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 2; MS2 | 1 | |
| 612595 | MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 3; MS3 | 1 | |
| 612596 | MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 4; MS4 | 1 | |
| 614810 | MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 5; MS5 | 1 | |
| 126200 | MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS | 1 | |
| 132800 | MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO; MSSE | 1 | |
| 272200 | MULTIPLE SULFATASE DEFICIENCY; MSD | 1 | |
| 186500 | MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1 | 1 | |
| 610017 | MULTIPLE SYNOSTOSES SYNDROME 2; SYNS2 | 1 | |
| 612961 | MULTIPLE SYNOSTOSES SYNDROME 3; SYNS3 | 1 | |
| 146500 | MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO; MSA1 | 1 | |
| 613834 | MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME | 1 | |
| 611376 | MUNGAN SYNDROME; MGS | 1 | |
| 614160 | MUSCLE HYPERTROPHY; MSLHP | 1 | |
| 612083 | MUSCLE STRENGTH QUANTITATIVE TRAIT LOCUS 1 | 1 | |
| 300376 | MUSCULAR DYSTROPHY, BECKER TYPE; BMD | 1 | |
| 607855 | MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A | 1 | |
| 604801 | MUSCULAR DYSTROPHY, CONGENITAL, 1B; MDC1B | 1 | |
| 613204 | MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY | 1 | |
| 613205 | MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED | 1 | |
| 602541 | MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE; MDCMC | 1 | |
| 609456 | MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE | 1 | |
| 310200 | MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | 1 | |
| 159000 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A; LGMD1A | 1 | |
| 159001 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B | 1 | |
| 607801 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C; LGMD1C | 1 | |
| 603511 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E; LGMD1E | 1 | |
| 608423 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F; LGMD1F | 1 | |
| 613530 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1H; LGMD1H | 1 | |
| 253600 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A | 1 | |
| 253601 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B | 1 | |
| 253700 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C | 1 | |
| 608099 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D | 1 | |
| 604286 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E | 1 | |
| 601287 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F | 1 | |
| 601954 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G; LGMD2G | 1 | |
| 254110 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H; LGMD2H | 1 | |
| 608807 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J; LGMD2J | 1 | |
| 611307 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L; LGMD2L | 1 | |
| 613723 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q; LGMD2Q | 1 | |
| 615325 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R; LGMD2R | 1 | |
| 615356 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S; LGMD2S | 1 | |
| 613154 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE | 1 | |
| 253280 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE | 1 | |
| 615287 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE | 1 | |
| 615249 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE | 1 | |
| 614830 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE | 1 | |
| 613153 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE | 1 | |
| 614643 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE | 1 | |
| 236670 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE | 5 | |
| 615041 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE | 1 | |
| 615350 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE | 1 | |
| 253800 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE | 1 | |
| 615181 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE | 1 | |
| 613150 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE | 1 | |
| 613156 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), | 1 | |
| 613155 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), | 1 | |
| 608840 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), | 1 | |
| 613151 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), | 1 | |
| 615351 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), | 1 | |
| 606612 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT | 1 | |
| 613152 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), | 1 | |
| 615352 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14; MDDGC14 | 1 | |
| 609308 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1 | 1 | |
| 613158 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2; MDDGC2 | 1 | |
| 613157 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3; MDDGC3 | 1 | |
| 611588 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4; MDDGC4 | 1 | |
| 607155 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5 | 1 | |
| 613818 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9; MDDGC9 | 1 | |
| 612343 | MUSICAL APTITUDE QUANTITATIVE TRAIT LOCUS | 1 | |
| 607085 | MYASTHENIA GRAVIS WITH THYMUS HYPERPLASIA | 1 | |
| 605809 | MYASTHENIA, FAMILIAL INFANTILE, 1 | 1 | |
| 254300 | MYASTHENIA, LIMB-GIRDLE, FAMILIAL | 2 | |
| 614198 | MYASTHENIC SYNDROME, CONGENITAL, ACETAZOLAMIDE-RESPONSIVE | 1 | |
| 608931 | MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR | 5 | |
| 254210 | MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA | 1 | |
| 608930 | MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL | 3 | |
| 601462 | MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL; SCCMS | 4 | |
| 610542 | MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 1; CMSTA1 | 1 | |
| 614750 | MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2; CMSTA2 | 1 | |
| 613796 | MYCOBACTERIAL AND VIRAL INFECTIONS, SUSCEPTIBILITY TO, AUTOSOMAL RECESSIVE | 1 | |
| 607948 | MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO | 11 | |
| 607949 | MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 1 | 1 | |
| 611046 | MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 2 | 1 | |
| 612929 | MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 3 | 1 | |
| 300259 | MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, X-LINKED | 1 | |
| 612260 | MYD88 DEFICIENCY; MYD88D | 1 | |
| 614286 | MYELODYSPLASTIC SYNDROME; MDS | 4 | |
| 254450 | MYELOFIBROSIS | 3 | |
| 601308 | MYELOID TUMOR SUPPRESSOR | 1 | |
| 254500 | MYELOMA, MULTIPLE | 2 | |
| 254600 | MYELOPEROXIDASE DEFICIENCY; MPOD | 1 | |
| 131440 | MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA | 1 | |
| 159595 | MYELOPROLIFERATIVE SYNDROME, TRANSIENT | 1 | |
| 139210 | MYHRE SYNDROME; MYHRS | 1 | |
| 608446 | MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO | 13 | |
| 608557 | MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 2 | 1 | |
| 159900 | MYOCLONIC DYSTONIA | 2 | |
| 545000 | MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF | 1 | |
| 254780 | MYOCLONIC EPILEPSY OF LAFORA | 2 | |
| 254800 | MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG | 1 | |
| 605021 | MYOCLONIC EPILEPSY, FAMILIAL INFANTILE; FIME | 1 | |
| 608816 | MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 3; EJM3 | 1 | |
| 611364 | MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4; EJM4 | 1 | |
| 614937 | MYOCLONUS, FAMILIAL CORTICAL; FCM | 1 | |
| 228550 | MYOFIBROMATOSIS, INFANTILE, 1; IMF1 | 1 | |
| 615293 | MYOFIBROMATOSIS, INFANTILE, 2; IMF2 | 1 | |
| 268200 | MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE | 1 | |
| 615511 | MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD | 1 | |
| 255125 | MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY; HML | 1 | |
| 614399 | MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET; | 1 | |
| 160150 | MYOPATHY, CENTRONUCLEAR, 1; CNM1 | 2 | |
| 255200 | MYOPATHY, CENTRONUCLEAR, 2; CNM2 | 1 | |
| 614408 | MYOPATHY, CENTRONUCLEAR, 3; CNM3 | 1 | |
| 614807 | MYOPATHY, CENTRONUCLEAR, 4; CNM4 | 1 | |
| 310400 | MYOPATHY, CENTRONUCLEAR, X-LINKED; CNMX | 1 | |
| 612540 | MYOPATHY, CONGENITAL, COMPTON-NORTH | 1 | |
| 300580 | MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION, X-LINKED; CFTDX | 1 | |
| 255310 | MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD | 6 | |
| 160500 | MYOPATHY, DISTAL, 1; MPD1 | 1 | |
| 606070 | MYOPATHY, DISTAL, 2; MPD2 | 1 | |
| 610099 | MYOPATHY, DISTAL, 3; MPD3 | 1 | |
| 614065 | MYOPATHY, DISTAL, 4; MPD4 | 1 | |
| 614321 | MYOPATHY, DISTAL, TATEYAMA TYPE; MPDT | 1 | |
| 606768 | MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET; DMAT | 1 | |
| 611705 | MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY | 1 | |
| 255160 | MYOPATHY, HYALINE BODY, AUTOSOMAL RECESSIVE | 1 | |
| 600462 | MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1; MLASA1 | 1 | |
| 613561 | MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2 | 1 | |
| 613076 | MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT, HEARING | 1 | |
| 601419 | MYOPATHY, MYOFIBRILLAR, 1; MFM1 | 1 | |
| 609200 | MYOPATHY, MYOFIBRILLAR, 3; MFM3 | 1 | |
| 609452 | MYOPATHY, MYOFIBRILLAR, 4; MFM4 | 1 | |
| 609524 | MYOPATHY, MYOFIBRILLAR, 5; MFM5 | 1 | |
| 612954 | MYOPATHY, MYOFIBRILLAR, 6; MFM6 | 1 | |
| 608358 | MYOPATHY, MYOSIN STORAGE | 1 | |
| 300718 | MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET | 1 | |
| 300717 | MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE | 1 | |
| 182920 | MYOPATHY, SPHEROID BODY | 1 | |
| 160565 | MYOPATHY, TUBULAR AGGREGATE; TAM | 1 | |
| 300696 | MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY; XMPMA | 1 | |
| 310460 | MYOPIA 1, X-LINKED; MYP1 | 1 | |
| 609259 | MYOPIA 10; MYP10 | 1 | |
| 609994 | MYOPIA 11, AUTOSOMAL DOMINANT; MYP11 | 1 | |
| 609995 | MYOPIA 12, AUTOSOMAL DOMINANT; MYP12 | 1 | |
| 300613 | MYOPIA 13, X-LINKED; MYP13 | 1 | |
| 610320 | MYOPIA 14; MYP14 | 1 | |
| 612717 | MYOPIA 15, AUTOSOMAL DOMINANT; MYP15 | 1 | |
| 612554 | MYOPIA 16, AUTOSOMAL DOMINANT; MYP16 | 1 | |
| 608367 | MYOPIA 17, AUTOSOMAL DOMINANT; MYP17 | 1 | |
| 255500 | MYOPIA 18, AUTOSOMAL RECESSIVE; MYP18 | 1 | |
| 613969 | MYOPIA 19, AUTOSOMAL DOMINANT; MYP19 | 1 | |
| 160700 | MYOPIA 2, AUTOSOMAL DOMINANT; MYP2 | 1 | |
| 614166 | MYOPIA 20, AUTOSOMAL DOMINANT; MYP20 | 1 | |
| 614167 | MYOPIA 21, AUTOSOMAL DOMINANT; MYP21 | 1 | |
| 615420 | MYOPIA 22, AUTOSOMAL DOMINANT; MYP22 | 1 | |
| 615431 | MYOPIA 23, AUTOSOMAL RECESSIVE; MYP23 | 1 | |
| 603221 | MYOPIA 3, AUTOSOMAL DOMINANT; MYP3 | 1 | |
| 608474 | MYOPIA 5, AUTOSOMAL DOMINANT; MYP5 | 1 | |
| 608908 | MYOPIA 6; MYP6 | 1 | |
| 609256 | MYOPIA 7; MYP7 | 1 | |
| 609257 | MYOPIA 8; MYP8 | 1 | |
| 609258 | MYOPIA 9; MYP9 | 1 | |
| 614292 | MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION; MCVD | 1 | |
| 255600 | MYOSCLEROSIS, AUTOSOMAL RECESSIVE | 1 | |
| 160800 | MYOTONIA CONGENITA, AUTOSOMAL DOMINANT | 1 | |
| 255700 | MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE | 1 | |
| 608390 | MYOTONIA, POTASSIUM-AGGRAVATED | 1 | |
| 160900 | MYOTONIC DYSTROPHY 1; DM1 | 1 | |
| 602668 | MYOTONIC DYSTROPHY 2; DM2 | 1 | |
| 613488 | MYXOID LIPOSARCOMA | 1 | |
| 255960 | MYXOMA, INTRACARDIAC | 1 | |
| 310465 | N SYNDROME; NSX | 1 | |
| 614063 | N-ACETYLASPARTATE DEFICIENCY; NACED | 1 | |
| 237310 | N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY | 1 | |
| 608156 | NABLUS MASK-LIKE FACIAL SYNDROME; NMLFS | 1 | |
| 161000 | NAEGELI SYNDROME | 1 | |
| 614157 | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10; NDNC10 | 1 | |
| 151600 | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3; NDNC3 | 1 | |
| 206800 | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4; NDNC4 | 1 | |
| 605779 | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 7; NDNC7 | 1 | |
| 607523 | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8; NDNC8 | 1 | |
| 614149 | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9; NDNC9 | 1 | |
| 161200 | NAIL-PATELLA SYNDROME; NPS | 1 | |
| 302350 | NANCE-HORAN SYNDROME; NHS | 1 | |
| 600165 | NANOPHTHALMOS 1; NNO1 | 1 | |
| 609549 | NANOPHTHALMOS 2; NNO2 | 1 | |
| 611897 | NANOPHTHALMOS 3; NNO3 | 1 | |
| 161400 | NARCOLEPSY 1; NRCLP1 | 1 | |
| 605841 | NARCOLEPSY 2, SUSCEPTIBILITY TO; NRCLP2 | 1 | |
| 609039 | NARCOLEPSY 3; NRCLP3 | 1 | |
| 612417 | NARCOLEPSY 4, SUSCEPTIBILITY TO; NRCLP4 | 1 | |
| 612851 | NARCOLEPSY 5, SUSCEPTIBILITY TO; NRCLP5 | 1 | |
| 614223 | NARCOLEPSY 6, SUSCEPTIBILITY TO; NRCLP6 | 1 | |
| 614250 | NARCOLEPSY 7; NRCLP7 | 1 | |
| 607107 | NASOPHARYNGEAL CARCINOMA | 1 | |
| 161550 | NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 2 | 1 | |
| 255995 | NATIVE AMERICAN MYOPATHY; NAM | 1 | |
| 609981 | NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR | 1 | |
| 601214 | NAXOS DISEASE | 1 | |
| 609284 | NEMALINE MYOPATHY 1; NEM1 | 1 | |
| 256030 | NEMALINE MYOPATHY 2; NEM2 | 1 | |
| 161800 | NEMALINE MYOPATHY 3; NEM3 | 1 | |
| 609285 | NEMALINE MYOPATHY 4; NEM4 | 1 | |
| 605355 | NEMALINE MYOPATHY 5; NEM5 | 1 | |
| 609273 | NEMALINE MYOPATHY 6; NEM6 | 1 | |
| 610687 | NEMALINE MYOPATHY 7; NEM7 | 1 | |
| 615348 | NEMALINE MYOPATHY 8; NEM8 | 1 | |
| 300539 | NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS; NSIAD | 1 | |
| 605990 | NEPHROLITHIASIS, URIC ACID, SUSCEPTIBILITY TO | 1 | |
| 310468 | NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE; XRN | 1 | |
| 612286 | NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1; NPHLOP1 | 1 | |
| 612287 | NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2; NPHLOP2 | 1 | |
| 613550 | NEPHRONOPHTHISIS 11; NPHP11 | 1 | |
| 613820 | NEPHRONOPHTHISIS 12; NPHP12 | 1 | |
| 614377 | NEPHRONOPHTHISIS 13; NPHP13 | 1 | |
| 614844 | NEPHRONOPHTHISIS 14; NPHP14 | 1 | |
| 614845 | NEPHRONOPHTHISIS 15; NPHP15 | 1 | |
| 615382 | NEPHRONOPHTHISIS 16; NPHP16 | 1 | |
| 256100 | NEPHRONOPHTHISIS 1; NPHP1 | 1 | |
| 602088 | NEPHRONOPHTHISIS 2; NPHP2 | 1 | |
| 604387 | NEPHRONOPHTHISIS 3; NPHP3 | 1 | |
| 606966 | NEPHRONOPHTHISIS 4; NPHP4 | 1 | |
| 611498 | NEPHRONOPHTHISIS 7; NPHP7 | 1 | |
| 613824 | NEPHRONOPHTHISIS 9; NPHP9 | 1 | |
| 613159 | NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1 | 1 | |
| 609057 | NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS | 1 | |
| 609469 | NEPHROPATHY, PROGRESSIVE, WITH DEAFNESS | 1 | |
| 256300 | NEPHROTIC SYNDROME, TYPE 1; NPHS1 | 1 | |
| 600995 | NEPHROTIC SYNDROME, TYPE 2; NPHS2 | 1 | |
| 610725 | NEPHROTIC SYNDROME, TYPE 3; NPHS3 | 1 | |
| 256370 | NEPHROTIC SYNDROME, TYPE 4; NPHS4 | 1 | |
| 614199 | NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES; | 1 | |
| 614196 | NEPHROTIC SYNDROME, TYPE 6; NPHS6 | 1 | |
| 615008 | NEPHROTIC SYNDROME, TYPE 7; NPHS7 | 1 | |
| 615244 | NEPHROTIC SYNDROME, TYPE 8; NPHS8 | 1 | |
| 614008 | NESTOR-GUILLERMO PROGERIA SYNDROME; NGPS | 1 | |
| 256500 | NETHERTON SYNDROME; NETH | 1 | |
| 182940 | NEURAL TUBE DEFECTS | 4 | |
| 601634 | NEURAL TUBE DEFECTS, FOLATE-SENSITIVE | 4 | |
| 256550 | NEURAMINIDASE DEFICIENCY | 1 | |
| 256700 | NEUROBLASTOMA, SUSCEPTIBILITY TO | 2 | |
| 613013 | NEUROBLASTOMA, SUSCEPTIBILITY TO, 2; NBLST2 | 1 | |
| 613014 | NEUROBLASTOMA, SUSCEPTIBILITY TO, 3; NBLST3 | 1 | |
| 613015 | NEUROBLASTOMA, SUSCEPTIBILITY TO, 4; NBLST4 | 1 | |
| 613016 | NEUROBLASTOMA, SUSCEPTIBILITY TO, 5; NBLST5 | 1 | |
| 613017 | NEUROBLASTOMA, SUSCEPTIBILITY TO, 6; NBLST6 | 1 | |
| 613068 | NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY | 1 | |
| 234200 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1 | 1 | |
| 256600 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A | 1 | |
| 610217 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; NBIA2B | 1 | |
| 606159 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3; NBIA3 | 1 | |
| 614298 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4; NBIA4 | 1 | |
| 300894 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5 | 1 | |
| 615491 | NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD-ONSET; NDGOA | 1 | |
| 162210 | NEUROFIBROMATOSIS, FAMILIAL SPINAL | 1 | |
| 162200 | NEUROFIBROMATOSIS, TYPE I; NF1 | 1 | |
| 101000 | NEUROFIBROMATOSIS, TYPE II; NF2 | 1 | |
| 601321 | NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS | 1 | |
| 137200 | NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE; NMAN | 1 | |
| 158590 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA; HMN2A | 1 | |
| 608634 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB; HMN2B | 1 | |
| 613376 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC; HMN2C | 1 | |
| 600794 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA; HMN5A | 2 | |
| 614751 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB; HMN5B | 1 | |
| 158580 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA; HMN7A | 1 | |
| 607641 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB; HMN7B | 1 | |
| 551500 | NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA | 1 | |
| 605253 | NEUROPATHY, CONGENITAL HYPOMYELINATING OR AMYELINATING, AUTOSOMAL | 2 | |
| 605285 | NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE; HMSNR | 1 | |
| 608088 | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, WITH COUGH AND | 1 | |
| 162400 | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA; HSAN1A | 1 | |
| 613640 | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC; HSAN1C | 1 | |
| 201300 | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A | 1 | |
| 613115 | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB; HSAN2B | 1 | |
| 223900 | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | 1 | |
| 608654 | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V; HSAN5 | 1 | |
| 614653 | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI; HSAN6 | 1 | |
| 613708 | NEUROPATHY, HEREDITARY SENSORY, TYPE ID; HSN1D | 1 | |
| 614116 | NEUROPATHY, HEREDITARY SENSORY, TYPE IE; HSN1E | 1 | |
| 614213 | NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C | 1 | |
| 256840 | NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL | 1 | |
| 162500 | NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP | 1 | |
| 610717 | NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY; NLSDM | 1 | |
| 607847 | NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS | 1 | |
| 202700 | NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT; SCN1 | 1 | |
| 613107 | NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT; SCN2 | 1 | |
| 610738 | NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 | 1 | |
| 612541 | NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4 | 1 | |
| 615285 | NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE; SCN5 | 1 | |
| 300299 | NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; SCNX | 1 | |
| 608203 | NEUTROPHIL IMMUNODEFICIENCY SYNDROME | 1 | |
| 162820 | NEUTROPHIL MIGRATION; NM | 1 | |
| 162830 | NEUTROPHILIA, HEREDITARY | 1 | |
| 162900 | NEVUS, EPIDERMAL | 4 | |
| 607476 | NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD | 1 | |
| 601358 | NICOLAIDES-BARAITSER SYNDROME; NCBRS | 1 | |
| 257200 | NIEMANN-PICK DISEASE, TYPE A | 1 | |
| 607616 | NIEMANN-PICK DISEASE, TYPE B | 1 | |
| 257220 | NIEMANN-PICK DISEASE, TYPE C1; NPC1 | 1 | |
| 607625 | NIEMANN-PICK DISEASE, TYPE C2 | 1 | |
| 610445 | NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1; CSNBAD1 | 1 | |
| 163500 | NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2; CSNBAD2 | 1 | |
| 610444 | NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3; CSNBAD3 | 1 | |
| 310500 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A; CSNB1A | 1 | |
| 257270 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B; CSNB1B | 1 | |
| 613216 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C | 1 | |
| 613830 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D; CSNB1D | 1 | |
| 614565 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E; CSNB1E | 1 | |
| 615058 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F; CSNB1F | 1 | |
| 300071 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A; CSNB2A | 1 | |
| 610427 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B; CSNB2B | 1 | |
| 251260 | NIJMEGEN BREAKAGE SYNDROME | 1 | |
| 613078 | NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD | 1 | |
| 605820 | NONAKA MYOPATHY; NM | 1 | |
| 258660 | NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO | 1 | |
| 163950 | NOONAN SYNDROME 1; NS1 | 1 | |
| 605275 | NOONAN SYNDROME 2; NS2 | 1 | |
| 609942 | NOONAN SYNDROME 3; NS3 | 1 | |
| 610733 | NOONAN SYNDROME 4; NS4 | 1 | |
| 611553 | NOONAN SYNDROME 5; NS5 | 1 | |
| 613224 | NOONAN SYNDROME 6; NS6 | 1 | |
| 613706 | NOONAN SYNDROME 7; NS7 | 1 | |
| 615355 | NOONAN SYNDROME 8; NS8 | 1 | |
| 607721 | NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR; NSLH | 1 | |
| 613563 | NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC | 1 | |
| 310600 | NORRIE DISEASE; ND | 1 | |
| 604901 | NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS; NAIC | 1 | |
| 601696 | NOVELTY SEEKING PERSONALITY TRAIT | 1 | |
| 310700 | NYSTAGMUS 1, CONGENITAL, X-LINKED; NYS1 | 1 | |
| 164100 | NYSTAGMUS 2, CONGENITAL, AUTOSOMAL DOMINANT; NYS2 | 1 | |
| 608345 | NYSTAGMUS 3, CONGENITAL, AUTOSOMAL DOMINANT; NYS3 | 1 | |
| 193003 | NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT; NYS4 | 1 | |
| 300589 | NYSTAGMUS 5, CONGENITAL, X-LINKED; NYS5 | 1 | |
| 300814 | NYSTAGMUS 6, CONGENITAL, X-LINKED; NYS6 | 1 | |
| 614826 | NYSTAGMUS 7, CONGENITAL, AUTOSOMAL DOMINANT; NYS7 | 1 | |
| 601665 | OBESITY | 16 | |
| 613886 | OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY | 1 | |
| 164230 | OBSESSIVE-COMPULSIVE DISORDER; OCD | 3 | |
| 304150 | OCCIPITAL HORN SYNDROME; OHS | 1 | |
| 613587 | OCCULT MACULAR DYSTROPHY; OCMD | 1 | |
| 257550 | OCULAR MOTOR APRAXIA | 1 | |
| 612109 | OCULOAURICULAR SYNDROME | 1 | |
| 257850 | OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE | 1 | |
| 164200 | OCULODENTODIGITAL DYSPLASIA; ODDD | 1 | |
| 164300 | OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD | 1 | |
| 257980 | ODONTOONYCHODERMAL DYSPLASIA; OODD | 1 | |
| 300855 | OGDEN SYNDROME; OGDNS | 1 | |
| 258100 | OGUCHI DISEASE 1 | 1 | |
| 613411 | OGUCHI DISEASE 2 | 1 | |
| 603736 | OHDO SYNDROME, SBBYS VARIANT; SBBYSS | 1 | |
| 300895 | OHDO SYNDROME, X-LINKED; OHDOX | 1 | |
| 613949 | OKT4 EPITOPE DEFICIENCY | 1 | |
| 608615 | OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS | 1 | |
| 603554 | OMENN SYNDROME | 3 | |
| 258315 | OMODYSPLASIA 1; OMOD1 | 1 | |
| 164750 | OMPHALOCELE, AUTOSOMAL | 1 | |
| 310980 | OMPHALOCELE, X-LINKED | 1 | |
| 311000 | OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA; OPEM | 1 | |
| 610064 | OPIOID DEPENDENCE, SUSCEPTIBILITY TO, 1 | 1 | |
| 145410 | OPITZ GBBB SYNDROME, AUTOSOMAL DOMINANT | 1 | |
| 300000 | OPITZ GBBB SYNDROME, X-LINKED | 1 | |
| 305450 | OPITZ-KAVEGGIA SYNDROME; OKS | 1 | |
| 258480 | OPSISMODYSPLASIA; OPSMD | 1 | |
| 165500 | OPTIC ATROPHY 1; OPA1 | 1 | |
| 311050 | OPTIC ATROPHY 2; OPA2 | 1 | |
| 165300 | OPTIC ATROPHY 3, AUTOSOMAL DOMINANT | 1 | |
| 605293 | OPTIC ATROPHY 4; OPA4 | 1 | |
| 610708 | OPTIC ATROPHY 5; OPA5 | 1 | |
| 258500 | OPTIC ATROPHY 6; OPA6 | 1 | |
| 612989 | OPTIC ATROPHY 7; OPA7 | 1 | |
| 125250 | OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, | 1 | |
| 165550 | OPTIC NERVE HYPOPLASIA, BILATERAL | 1 | |
| 311150 | OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA | 1 | |
| 311250 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO | 1 | |
| 613705 | OROFACIAL CLEFT 10; OFC10 | 1 | |
| 600625 | OROFACIAL CLEFT 11; OFC11 | 1 | |
| 612858 | OROFACIAL CLEFT 12; OFC12 | 1 | |
| 613857 | OROFACIAL CLEFT 13; OFC13 | 1 | |
| 119530 | OROFACIAL CLEFT 1; OFC1 | 1 | |
| 602966 | OROFACIAL CLEFT 2; OFC2 | 1 | |
| 600757 | OROFACIAL CLEFT 3; OFC3 | 1 | |
| 608371 | OROFACIAL CLEFT 4; OFC4 | 1 | |
| 608874 | OROFACIAL CLEFT 5; OFC5 | 1 | |
| 608864 | OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6 | 1 | |
| 610361 | OROFACIAL CLEFT 9; OFC9 | 1 | |
| 311200 | OROFACIODIGITAL SYNDROME I; OFD1 | 1 | |
| 258860 | OROFACIODIGITAL SYNDROME IV; OFD4 | 1 | |
| 174300 | OROFACIODIGITAL SYNDROME V; OFD5 | 1 | |
| 258900 | OROTIC ACIDURIA | 1 | |
| 143850 | ORTHOSTATIC HYPOTENSIVE DISORDER, STREETEN TYPE | 1 | |
| 604715 | ORTHOSTATIC INTOLERANCE | 1 | |
| 166350 | OSSEOUS HETEROPLASIA, PROGRESSIVE; POH | 1 | |
| 602475 | OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE; OPLL | 1 | |
| 165720 | OSTEOARTHRITIS SUSCEPTIBILITY 1; OS1 | 1 | |
| 140600 | OSTEOARTHRITIS SUSCEPTIBILITY 2; OS2 | 1 | |
| 607850 | OSTEOARTHRITIS SUSCEPTIBILITY 3; OS3 | 1 | |
| 610839 | OSTEOARTHRITIS SUSCEPTIBILITY 4; OS4 | 1 | |
| 612400 | OSTEOARTHRITIS SUSCEPTIBILITY 5; OS5 | 1 | |
| 612401 | OSTEOARTHRITIS SUSCEPTIBILITY 6; OS6 | 1 | |
| 604864 | OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA | 1 | |
| 165800 | OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS; | 1 | |
| 166200 | OSTEOGENESIS IMPERFECTA, TYPE I | 1 | |
| 166210 | OSTEOGENESIS IMPERFECTA, TYPE II | 2 | |
| 259420 | OSTEOGENESIS IMPERFECTA, TYPE III | 2 | |
| 166220 | OSTEOGENESIS IMPERFECTA, TYPE IV | 2 | |
| 259440 | OSTEOGENESIS IMPERFECTA, TYPE IX; OI9 | 1 | |
| 610967 | OSTEOGENESIS IMPERFECTA, TYPE V; OI5 | 1 | |
| 613982 | OSTEOGENESIS IMPERFECTA, TYPE VI; OI6 | 1 | |
| 610682 | OSTEOGENESIS IMPERFECTA, TYPE VII; OI7 | 1 | |
| 610915 | OSTEOGENESIS IMPERFECTA, TYPE VIII; OI8 | 1 | |
| 613848 | OSTEOGENESIS IMPERFECTA, TYPE X | 1 | |
| 610968 | OSTEOGENESIS IMPERFECTA, TYPE XI; OI11 | 1 | |
| 613849 | OSTEOGENESIS IMPERFECTA, TYPE XII; OI12 | 1 | |
| 614856 | OSTEOGENESIS IMPERFECTA, TYPE XIII; OI13 | 1 | |
| 615066 | OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14 | 1 | |
| 615220 | OSTEOGENESIS IMPERFECTA, TYPE XV; OI15 | 1 | |
| 259500 | OSTEOGENIC SARCOMA | 3 | |
| 166250 | OSTEOGLOPHONIC DYSPLASIA; OGD | 1 | |
| 612852 | OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS; | 1 | |
| 300373 | OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS | 1 | |
| 611490 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4; OPTB4 | 1 | |
| 607634 | OSTEOPETROSIS, AUTOSOMAL DOMINANT 1; OPTA1 | 1 | |
| 166600 | OSTEOPETROSIS, AUTOSOMAL DOMINANT 2; OPTA2 | 1 | |
| 259700 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1 | 1 | |
| 259710 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2 | 1 | |
| 259730 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3 | 1 | |
| 259720 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5 | 1 | |
| 611497 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6; OPTB6 | 1 | |
| 612301 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7 | 1 | |
| 615085 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8 | 1 | |
| 166710 | OSTEOPOROSIS | 6 | |
| 259770 | OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; OPPG | 1 | |
| 166760 | OTITIS MEDIA, SUSCEPTIBILITY TO | 1 | |
| 166750 | OTODENTAL DYSPLASIA | 1 | |
| 166780 | OTOFACIOCERVICAL SYNDROME | 1 | |
| 311300 | OTOPALATODIGITAL SYNDROME, TYPE I; OPD1 | 1 | |
| 304120 | OTOPALATODIGITAL SYNDROME, TYPE II; OPD2 | 1 | |
| 166800 | OTOSCLEROSIS 1; OTSC1 | 1 | |
| 605727 | OTOSCLEROSIS 2; OTSC2 | 1 | |
| 608244 | OTOSCLEROSIS 3; OTSC3 | 1 | |
| 611571 | OTOSCLEROSIS 4; OTSC4 | 1 | |
| 608787 | OTOSCLEROSIS 5; OTSC5 | 1 | |
| 611572 | OTOSCLEROSIS 7; OTSC7 | 1 | |
| 612096 | OTOSCLEROSIS 8; OTSC8 | 1 | |
| 215150 | OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; OSMED | 2 | |
| 167000 | OVARIAN CANCER | 1 | |
| 607893 | OVARIAN CANCER, SUSCEPTIBILITY TO, 1; OVCAS1 | 1 | |
| 233300 | OVARIAN DYSGENESIS 1; ODG1 | 1 | |
| 300510 | OVARIAN DYSGENESIS 2; ODG2 | 1 | |
| 614324 | OVARIAN DYSGENESIS 3; ODG3 | 1 | |
| 608115 | OVARIAN HYPERSTIMULATION SYNDROME | 1 | |
| 185000 | OVERHYDRATED HEREDITARY STOMATOCYTOSIS; OHS | 1 | |
| 167200 | PACHYONYCHIA CONGENITA, TYPE 1; PC1 | 2 | |
| 167210 | PACHYONYCHIA CONGENITA, TYPE 2; PC2 | 2 | |
| 167250 | PAGET DISEASE OF BONE 1; PDB1 | 1 | |
| 606263 | PAGET DISEASE OF BONE 4; PDB4 | 1 | |
| 602080 | PAGET DISEASE OF BONE; PDB | 2 | |
| 239000 | PAGET DISEASE, JUVENILE | 1 | |
| 311400 | PAINE SYNDROME | 1 | |
| 146510 | PALLISTER-HALL SYNDROME; PHS | 1 | |
| 610644 | PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND | 1 | |
| 148700 | PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE; PPKS1 | 1 | |
| 600231 | PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB | 1 | |
| 144200 | PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK | 2 | |
| 614594 | PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC | 1 | |
| 613000 | PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL; FNEPPK | 1 | |
| 600962 | PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK | 1 | |
| 600001 | PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS; PACHD | 1 | |
| 260370 | PANCREATIC AGENESIS, CONGENITAL; PAGEN | 1 | |
| 609069 | PANCREATIC AND CEREBELLAR AGENESIS; PACA | 1 | |
| 600089 | PANCREATIC BETA CELL AGENESIS WITH NEONATAL DIABETES MELLITUS | 1 | |
| 260350 | PANCREATIC CANCER | 3 | |
| 606856 | PANCREATIC CANCER, SUSCEPTIBILITY TO, 1 | 1 | |
| 613347 | PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | 1 | |
| 613348 | PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | 1 | |
| 614320 | PANCREATIC CANCER, SUSCEPTIBILITY TO, 4; PNCA4 | 1 | |
| 601346 | PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA | 1 | |
| 614338 | PANCREATIC LIPASE DEFICIENCY; PNLIPD | 1 | |
| 167800 | PANCREATITIS, HEREDITARY; PCTT | 5 | |
| 312000 | PANHYPOPITUITARISM, X-LINKED; PHPX | 1 | |
| 167870 | PANIC DISORDER 1; PAND1 | 1 | |
| 607853 | PANIC DISORDER 2 | 1 | |
| 609985 | PANIC DISORDER 3 | 1 | |
| 260500 | PAPILLOMA OF CHOROID PLEXUS; CPP | 1 | |
| 245000 | PAPILLON-LEFEVRE SYNDROME; PALS | 1 | |
| 120330 | PAPILLORENAL SYNDROME | 1 | |
| 606864 | PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA | 3 | |
| 168000 | PARAGANGLIOMAS 1; PGL1 | 1 | |
| 601650 | PARAGANGLIOMAS 2; PGL2 | 1 | |
| 605373 | PARAGANGLIOMAS 3; PGL3 | 1 | |
| 115310 | PARAGANGLIOMAS 4; PGL4 | 1 | |
| 614165 | PARAGANGLIOMAS 5; PGL5 | 1 | |
| 168300 | PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC | 1 | |
| 613938 | PARASOMNIA, SLEEPWALKING TYPE; PSMNSW | 1 | |
| 168400 | PARASTREMMATIC DWARFISM | 1 | |
| 608266 | PARATHYROID CARCINOMA | 1 | |
| 609597 | PARIETAL FORAMINA 2; PFM2 | 1 | |
| 609566 | PARIETAL FORAMINA 3; PFM3 | 1 | |
| 168550 | PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA; PFMCCD | 1 | |
| 168500 | PARIETAL FORAMINA; PFM | 1 | |
| 608355 | PARKES WEBER SYNDROME | 1 | |
| 168601 | PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1 | 1 | |
| 606852 | PARKINSON DISEASE 10; PARK10 | 1 | |
| 607688 | PARKINSON DISEASE 11, AUTOSOMAL DOMINANT; PARK11 | 1 | |
| 300557 | PARKINSON DISEASE 12; PARK12 | 1 | |
| 610297 | PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13 | 1 | |
| 612953 | PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE; PARK14 | 1 | |
| 260300 | PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK15 | 1 | |
| 613164 | PARKINSON DISEASE 16; PARK16 | 1 | |
| 614203 | PARKINSON DISEASE 17; PARK17 | 1 | |
| 614251 | PARKINSON DISEASE 18; PARK18 | 1 | |
| 615528 | PARKINSON DISEASE 19, JUVENILE-ONSET; PARK19 | 1 | |
| 600116 | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2 | 1 | |
| 615530 | PARKINSON DISEASE 20, EARLY-ONSET; PARK20 | 1 | |
| 602404 | PARKINSON DISEASE 3, AUTOSOMAL DOMINANT; PARK3 | 1 | |
| 605543 | PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4 | 1 | |
| 613643 | PARKINSON DISEASE 5, AUTOSOMAL DOMINANT; PARK5 | 1 | |
| 605909 | PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6 | 1 | |
| 606324 | PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7 | 1 | |
| 607060 | PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8 | 1 | |
| 168600 | PARKINSON DISEASE, LATE-ONSET; PD | 6 | |
| 260540 | PARKINSON-DEMENTIA SYNDROME | 1 | |
| 300911 | PARKINSONISM WITH SPASTICITY, X-LINKED; XPDS | 1 | |
| 311510 | PARKINSONISM, EARLY-ONSET, WITH MENTAL RETARDATION | 1 | |
| 613135 | PARKINSONISM-DYSTONIA, INFANTILE; PKDYS | 1 | |
| 167400 | PAROXYSMAL EXTREME PAIN DISORDER | 1 | |
| 300818 | PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1; PNH1 | 1 | |
| 615399 | PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2; PNH2 | 1 | |
| 118800 | PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1 | 1 | |
| 611147 | PAROXYSMAL NONKINESIGENIC DYSKINESIA 2; PNKD2 | 1 | |
| 309510 | PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME; PRTS | 1 | |
| 168860 | PATELLA APLASIA-HYPOPLASIA; PTLAH | 1 | |
| 607411 | PATENT DUCTUS ARTERIOSUS | 1 | |
| 169150 | PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUM | 1 | |
| 270300 | PEELING SKIN SYNDROME | 1 | |
| 609796 | PEELING SKIN SYNDROME, ACRAL TYPE | 1 | |
| 169400 | PELGER-HUET ANOMALY; PHA | 1 | |
| 312080 | PELIZAEUS-MERZBACHER DISEASE; PMD | 1 | |
| 176780 | PELVIC ORGAN PROLAPSE, SUSCEPTIBILITY TO | 1 | |
| 613088 | PELVIC ORGAN PROLAPSE, SUSCEPTIBILITY TO, 2 | 1 | |
| 274600 | PENDRED SYNDROME; PDS | 3 | |
| 260800 | PENTOSURIA | 1 | |
| 142680 | PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT | 1 | |
| 614674 | PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT | 1 | |
| 170650 | PERIODONTITIS, AGGRESSIVE, 1 | 1 | |
| 608526 | PERIODONTITIS, AGGRESSIVE, 2 | 1 | |
| 606787 | PERIPHERAL ARTERIAL OCCLUSIVE DISEASE 1 | 1 | |
| 609136 | PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG | 1 | |
| 614369 | PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS; PNMHH | 1 | |
| 267000 | PERLMAN SYNDROME; PRLMNS | 1 | |
| 264470 | PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY | 1 | |
| 614882 | PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A | 1 | |
| 614883 | PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11A | 1 | |
| 614885 | PEROXISOME BIOGENESIS DISORDER 11B; PBD11B | 1 | |
| 614886 | PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER); PBD12A | 1 | |
| 614887 | PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER); PBD13A | 1 | |
| 614920 | PEROXISOME BIOGENESIS DISORDER 14B; PEX14B | 1 | |
| 214100 | PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER); PBD1A | 1 | |
| 601539 | PEROXISOME BIOGENESIS DISORDER 1B; PBD1B | 1 | |
| 214110 | PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER); PBD2A | 1 | |
| 202370 | PEROXISOME BIOGENESIS DISORDER 2B; PBD2B | 1 | |
| 614859 | PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3A | 1 | |
| 614862 | PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER); PBD4A | 1 | |
| 614863 | PEROXISOME BIOGENESIS DISORDER 4B; PBD4B | 1 | |
| 614866 | PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER); PBD5A | 1 | |
| 614867 | PEROXISOME BIOGENESIS DISORDER 5B; PBD5B | 1 | |
| 614870 | PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER); PBD6A | 1 | |
| 614871 | PEROXISOME BIOGENESIS DISORDER 6B; PBD6B | 1 | |
| 614872 | PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER); PBD7A | 1 | |
| 614873 | PEROXISOME BIOGENESIS DISORDER 7B; PBD7B | 1 | |
| 614876 | PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A | 1 | |
| 614877 | PEROXISOME BIOGENESIS DISORDER 8B; PBD8B | 1 | |
| 614879 | PEROXISOME BIOGENESIS DISORDER 9B; PBD9B | 1 | |
| 233400 | PERRAULT SYNDROME 1; PRLTS1 | 1 | |
| 614926 | PERRAULT SYNDROME 2; PRLTS2 | 1 | |
| 614129 | PERRAULT SYNDROME 3; PRLTS3 | 1 | |
| 615300 | PERRAULT SYNDROME 4; PRLTS4 | 1 | |
| 168605 | PERRY SYNDROME | 1 | |
| 261550 | PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II; PMDS | 2 | |
| 606445 | PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS; PPBL | 1 | |
| 604229 | PETERS ANOMALY | 3 | |
| 261540 | PETERS-PLUS SYNDROME | 1 | |
| 175200 | PEUTZ-JEGHERS SYNDROME; PJS | 1 | |
| 101600 | PFEIFFER SYNDROME | 2 | |
| 606232 | PHELAN-MCDERMID SYNDROME | 1 | |
| 261600 | PHENYLKETONURIA; PKU | 1 | |
| 171300 | PHEOCHROMOCYTOMA | 8 | |
| 608251 | PHOBIA, SPECIFIC | 1 | |
| 261680 | PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC | 1 | |
| 261650 | PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, MITOCHONDRIAL | 1 | |
| 601815 | PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY | 1 | |
| 300653 | PHOSPHOGLYCERATE KINASE 1 DEFICIENCY | 1 | |
| 615011 | PHOSPHOHYDROXYLYSINURIA; PHLU | 1 | |
| 300661 | PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY | 1 | |
| 610992 | PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY | 1 | |
| 614023 | PHOSPHOSERINE PHOSPHATASE DEFICIENCY; PSPHD | 1 | |
| 609572 | PHOTOPAROXYSMAL RESPONSE 2; PPR2 | 1 | |
| 609573 | PHOTOPAROXYSMAL RESPONSE 3; PPR3 | 1 | |
| 132100 | PHOTOPAROXYSMAL RESPONSE; PPR | 1 | |
| 172700 | PICK DISEASE OF BRAIN | 2 | |
| 172800 | PIEBALD TRAIT; PBT | 2 | |
| 261800 | PIERRE ROBIN SYNDROME | 1 | |
| 609049 | PIERSON SYNDROME | 1 | |
| 301220 | PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS; PDR | 1 | |
| 610489 | PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1 | 1 | |
| 610475 | PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2 | 1 | |
| 614190 | PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3; PPNAD3 | 1 | |
| 172870 | PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY; PPCRA | 1 | |
| 132600 | PILOMATRIXOMA | 2 | |
| 262190 | PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC | 1 | |
| 610954 | PITT-HOPKINS SYNDROME; PTHS | 1 | |
| 614325 | PITT-HOPKINS-LIKE SYNDROME 2; PTHSL2 | 1 | |
| 219090 | PITUITARY ADENOMA, ACTH-SECRETING | 1 | |
| 102200 | PITUITARY ADENOMA, GROWTH HORMONE-SECRETING | 3 | |
| 600634 | PITUITARY ADENOMA, PROLACTIN-SECRETING | 1 | |
| 613038 | PITUITARY HORMONE DEFICIENCY, COMBINED, 1; CPHD1 | 1 | |
| 262600 | PITUITARY HORMONE DEFICIENCY, COMBINED, 2; CPHD2 | 1 | |
| 221750 | PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3 | 1 | |
| 262700 | PITUITARY HORMONE DEFICIENCY, COMBINED, 4; CPHD4 | 1 | |
| 613986 | PITUITARY HORMONE DEFICIENCY, COMBINED, 6; CPHD6 | 1 | |
| 173200 | PITYRIASIS RUBRA PILARIS; PRP | 1 | |
| 614101 | PLASMA FIBRONECTIN DEFICIENCY | 1 | |
| 613329 | PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY | 1 | |
| 217090 | PLASMINOGEN DEFICIENCY, TYPE I | 1 | |
| 248310 | PLASMODIUM FALCIPARUM BLOOD INFECTION LEVEL | 1 | |
| 611384 | PLASMODIUM FALCIPARUM FEVER EPISODES QUANTITATIVE TRAIT LOCUS 1 | 1 | |
| 601399 | PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY | 1 | |
| 608404 | PLATELET GLYCOPROTEIN IV DEFICIENCY | 1 | |
| 614278 | PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE DEFICIENCY; PAFAD | 1 | |
| 151210 | PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE; PLSDT | 1 | |
| 601200 | PLEUROPULMONARY BLASTOMA; PPB | 1 | |
| 173600 | PNEUMOTHORAX, PRIMARY SPONTANEOUS | 1 | |
| 614590 | PODOCONIOSIS, SUSCEPTIBILITY TO; PDCOS | 1 | |
| 604173 | POIKILODERMA WITH NEUTROPENIA; PN | 1 | |
| 173900 | POLYCYSTIC KIDNEY DISEASE 1; PKD1 | 1 | |
| 613095 | POLYCYSTIC KIDNEY DISEASE 2; PKD2 | 1 | |
| 600666 | POLYCYSTIC KIDNEY DISEASE 3, AUTOSOMAL DOMINANT; PKD3 | 1 | |
| 263200 | POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD | 1 | |
| 600273 | POLYCYSTIC KIDNEY DISEASE, INFANTILE SEVERE, WITH TUBEROUS SCLEROSIS; | 1 | |
| 221770 | POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY; | 2 | |
| 174050 | POLYCYSTIC LIVER DISEASE; PCLD | 2 | |
| 184700 | POLYCYSTIC OVARY SYNDROME 1; PCOS1 | 1 | |
| 263300 | POLYCYTHEMIA VERA | 1 | |
| 174200 | POLYDACTYLY, POSTAXIAL, TYPE A1; PAPA1 | 1 | |
| 602085 | POLYDACTYLY, POSTAXIAL, TYPE A2; PAPA2 | 1 | |
| 607324 | POLYDACTYLY, POSTAXIAL, TYPE A3 | 1 | |
| 608562 | POLYDACTYLY, POSTAXIAL, TYPE A4 | 1 | |
| 263450 | POLYDACTYLY, POSTAXIAL, TYPE A5; PAPA5 | 1 | |
| 615226 | POLYDACTYLY, POSTAXIAL, TYPE A6; PAPA6 | 1 | |
| 174500 | POLYDACTYLY, PREAXIAL II; PPD2 | 1 | |
| 174700 | POLYDACTYLY, PREAXIAL IV | 1 | |
| 263570 | POLYGLUCOSAN BODY DISEASE, ADULT FORM; APBD | 1 | |
| 611087 | POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY; PMSE | 1 | |
| 174750 | POLYKARYOCYTOSIS INDUCER; FUSE | 1 | |
| 187280 | POLYMERASE III, RNA, SUBUNIT D; POLR3D | 1 | |
| 613180 | POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA | 1 | |
| 614833 | POLYMICROGYRIA WITH SEIZURES; PMGYS | 1 | |
| 606854 | POLYMICROGYRIA, BILATERAL FRONTOPARIETAL | 1 | |
| 612691 | POLYMICROGYRIA, BILATERAL OCCIPITAL | 1 | |
| 610031 | POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC; PMGYSA | 1 | |
| 612674 | POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT; | 1 | |
| 601228 | POLYPOSIS SYNDROME, HEREDITARY MIXED, 1; HMPS1 | 1 | |
| 610069 | POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2 | 1 | |
| 606581 | POLYSUBSTANCE ABUSE, SUSCEPTIBILITY TO; PSAB | 1 | |
| 612795 | POLYUNSATURATED FATTY ACIDS PLASMA LEVEL QUANTITATIVE TRAIT LOCUS | 1 | |
| 607596 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1A; PCH1A | 1 | |
| 614678 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B | 1 | |
| 277470 | PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A | 1 | |
| 612389 | PONTOCEREBELLAR HYPOPLASIA, TYPE 2B; PCH2B | 1 | |
| 612390 | PONTOCEREBELLAR HYPOPLASIA, TYPE 2C; PCH2C | 1 | |
| 613811 | PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D | 1 | |
| 608027 | PONTOCEREBELLAR HYPOPLASIA, TYPE 3; PCH3 | 1 | |
| 225753 | PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4 | 1 | |
| 611523 | PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6 | 1 | |
| 614961 | PONTOCEREBELLAR HYPOPLASIA, TYPE 8; PCH8 | 1 | |
| 263650 | POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE | 1 | |
| 119500 | POPLITEAL PTERYGIUM SYNDROME; PPS | 1 | |
| 175780 | PORENCEPHALY 1; POREN1 | 1 | |
| 614483 | PORENCEPHALY 2; POREN2 | 1 | |
| 175850 | POROKERATOSIS 2, PALMAR, PLANTAR, AND DISSEMINATED TYPE; POROK2 | 1 | |
| 175900 | POROKERATOSIS 3, DISSEMINATED SUPERFICIAL ACTINIC TYPE; POROK3 | 2 | |
| 607728 | POROKERATOSIS 4, DISSEMINATED SUPERFICIAL ACTINIC TYPE; POROK4 | 1 | |
| 612293 | POROKERATOSIS 5, DISSEMINATED SUPERFICIAL ACTINIC TYPE; POROK5 | 1 | |
| 612353 | POROKERATOSIS 6, DISSEMINATED SUPERFICIAL ACTINIC TYPE; POROK6 | 1 | |
| 614714 | POROKERATOSIS 7, DISSEMINATED SUPERFICIAL ACTINIC TYPE; POROK7 | 1 | |
| 176100 | PORPHYRIA CUTANEA TARDA | 2 | |
| 176200 | PORPHYRIA VARIEGATA | 2 | |
| 612740 | PORPHYRIA, ACUTE HEPATIC | 1 | |
| 176000 | PORPHYRIA, ACUTE INTERMITTENT | 1 | |
| 263700 | PORPHYRIA, CONGENITAL ERYTHROPOIETIC | 1 | |
| 263750 | POSTAXIAL ACROFACIAL DYSOSTOSIS; POADS | 1 | |
| 609033 | POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA; AXPC1 | 1 | |
| 610883 | POTOCKI-LUPSKI SYNDROME; PTLS | 1 | |
| 601224 | POTOCKI-SHAFFER SYNDROME | 1 | |
| 176270 | PRADER-WILLI SYNDROME; PWS | 12 | |
| 128700 | PREAURICULAR FISTULAE, CONGENITAL | 1 | |
| 610420 | PREAURICULAR TAG, ISOLATED, AUTOSOMAL DOMINANT, 1 | 1 | |
| 176305 | PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS | 1 | |
| 176400 | PRECOCIOUS PUBERTY, CENTRAL, 1; CPPB1 | 1 | |
| 615346 | PRECOCIOUS PUBERTY, CENTRAL, 2; CPPB2 | 1 | |
| 176410 | PRECOCIOUS PUBERTY, MALE-LIMITED | 1 | |
| 189800 | PREECLAMPSIA/ECLAMPSIA 1; PEE1 | 1 | |
| 609402 | PREECLAMPSIA/ECLAMPSIA 2; PEE2 | 1 | |
| 609403 | PREECLAMPSIA/ECLAMPSIA 3; PEE3 | 1 | |
| 609404 | PREECLAMPSIA/ECLAMPSIA 4; PEE4 | 1 | |
| 614595 | PREECLAMPSIA/ECLAMPSIA 5; PEE5 | 1 | |
| 614389 | PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1; RPRGL1 | 1 | |
| 614390 | PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2; RPRGL2 | 1 | |
| 614391 | PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3; RPRGL3 | 1 | |
| 612423 | PREKALLIKREIN DEFICIENCY | 1 | |
| 176430 | PREMATURE CHROMATID SEPARATION TRAIT; PCS | 1 | |
| 311360 | PREMATURE OVARIAN FAILURE 1; POF1 | 1 | |
| 300511 | PREMATURE OVARIAN FAILURE 2A; POF2A | 1 | |
| 300604 | PREMATURE OVARIAN FAILURE 2B; POF2B | 1 | |
| 608996 | PREMATURE OVARIAN FAILURE 3; POF3 | 1 | |
| 611548 | PREMATURE OVARIAN FAILURE 5; POF5 | 1 | |
| 612310 | PREMATURE OVARIAN FAILURE 6; POF6 | 1 | |
| 612964 | PREMATURE OVARIAN FAILURE 7; POF7 | 1 | |
| 610504 | PRETERM PREMATURE RUPTURE OF THE MEMBRANES; PPROM | 1 | |
| 309610 | PRIETO X-LINKED MENTAL RETARDATION SYNDROME; PRS | 1 | |
| 615474 | PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES; PASNA | 1 | |
| 611637 | PRIMARY LATERAL SCLEROSIS, ADULT, 1; PLSA1 | 1 | |
| 606353 | PRIMARY LATERAL SCLEROSIS, JUVENILE; PLSJ | 1 | |
| 264080 | PROGESTERONE RESISTANCE | 1 | |
| 615156 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, | 1 | |
| 610131 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, | 1 | |
| 258450 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, | 1 | |
| 609286 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, | 1 | |
| 609283 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, | 1 | |
| 157640 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, | 1 | |
| 613077 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, | 1 | |
| 113900 | PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A | 1 | |
| 604559 | PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB; PFHB1B | 1 | |
| 170100 | PROLIDASE DEFICIENCY | 1 | |
| 225790 | PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME; | 1 | |
| 176770 | PROLINE-NEGATIVE AUXOTROPH OF HAMSTER, COMPLEMENTATION OF; PROA | 1 | |
| 608415 | PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION; PERRS | 2 | |
| 609734 | PROOPIOMELANOCORTIN DEFICIENCY | 1 | |
| 312060 | PROPERDIN DEFICIENCY, X-LINKED; CFPD | 1 | |
| 606054 | PROPIONIC ACIDEMIA | 2 | |
| 600955 | PROPROTEIN CONVERTASE 1/3 DEFICIENCY | 1 | |
| 176807 | PROSTATE CANCER | 12 | |
| 607592 | PROSTATE CANCER AGGRESSIVENESS QUANTITATIVE TRAIT LOCUS ON CHROMOSOME | 1 | |
| 611100 | PROSTATE CANCER, HEREDITARY, 10; HPC10 | 1 | |
| 611868 | PROSTATE CANCER, HEREDITARY, 12; HPC12 | 1 | |
| 611928 | PROSTATE CANCER, HEREDITARY, 13; HPC13 | 1 | |
| 611958 | PROSTATE CANCER, HEREDITARY, 14; HPC14 | 1 | |
| 611959 | PROSTATE CANCER, HEREDITARY, 15; HPC15 | 1 | |
| 601518 | PROSTATE CANCER, HEREDITARY, 1; HPC1 | 1 | |
| 614731 | PROSTATE CANCER, HEREDITARY, 2; HPC2 | 1 | |
| 608656 | PROSTATE CANCER, HEREDITARY, 3 | 1 | |
| 608658 | PROSTATE CANCER, HEREDITARY, 4 | 1 | |
| 609299 | PROSTATE CANCER, HEREDITARY, 5 | 1 | |
| 609558 | PROSTATE CANCER, HEREDITARY, 6 | 1 | |
| 610321 | PROSTATE CANCER, HEREDITARY, 7; HPC7 | 1 | |
| 602759 | PROSTATE CANCER, HEREDITARY, 8 | 1 | |
| 610997 | PROSTATE CANCER, HEREDITARY, 9 | 1 | |
| 300147 | PROSTATE CANCER, HEREDITARY, X-LINKED 1; HPCX1 | 1 | |
| 300704 | PROSTATE CANCER, HEREDITARY, X-LINKED 2; HPCX2 | 1 | |
| 603688 | PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY | 1 | |
| 614024 | PROTEIN Z DEFICIENCY | 1 | |
| 308990 | PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS | 1 | |
| 176920 | PROTEUS SYNDROME | 1 | |
| 613679 | PROTHROMBIN DEFICIENCY, CONGENITAL | 1 | |
| 300752 | PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED; XLEPP | 1 | |
| 177000 | PROTOPORPHYRIA, ERYTHROPOIETIC; EPP | 1 | |
| 177820 | PSEUDO-VON WILLEBRAND DISEASE; VWDP | 1 | |
| 177170 | PSEUDOACHONDROPLASIA; PSACH | 1 | |
| 612318 | PSEUDOFOLLICULITIS BARBAE | 1 | |
| 609153 | PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK | 1 | |
| 177735 | PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT; PHA1A | 1 | |
| 264350 | PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE; PHA1B | 3 | |
| 145260 | PSEUDOHYPOALDOSTERONISM, TYPE IIA; PHA2A | 1 | |
| 614491 | PSEUDOHYPOALDOSTERONISM, TYPE IIB; PHA2B | 1 | |
| 614492 | PSEUDOHYPOALDOSTERONISM, TYPE IIC; PHA2C | 1 | |
| 614495 | PSEUDOHYPOALDOSTERONISM, TYPE IID; PHA2D | 1 | |
| 614496 | PSEUDOHYPOALDOSTERONISM, TYPE IIE; PHA2E | 1 | |
| 103580 | PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A | 1 | |
| 603233 | PSEUDOHYPOPARATHYROIDISM, TYPE IB; PHP1B | 3 | |
| 612462 | PSEUDOHYPOPARATHYROIDISM, TYPE IC; PHP1C | 1 | |
| 612463 | PSEUDOPSEUDOHYPOPARATHYROIDISM; PPHP | 1 | |
| 264600 | PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH | 1 | |
| 177850 | PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE | 1 | |
| 610842 | PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR | 1 | |
| 264800 | PSEUDOXANTHOMA ELASTICUM; PXE | 3 | |
| 612410 | PSORIASIS SUSCEPTIBILITY 10; PSORS10 | 1 | |
| 612599 | PSORIASIS SUSCEPTIBILITY 11; PSORS11 | 1 | |
| 614070 | PSORIASIS SUSCEPTIBILITY 13; PSORS13 | 1 | |
| 177900 | PSORIASIS SUSCEPTIBILITY 1; PSORS1 | 1 | |
| 602723 | PSORIASIS SUSCEPTIBILITY 2; PSORS2 | 1 | |
| 601454 | PSORIASIS SUSCEPTIBILITY 3; PSORS3 | 1 | |
| 603935 | PSORIASIS SUSCEPTIBILITY 4; PSORS4 | 1 | |
| 604316 | PSORIASIS SUSCEPTIBILITY 5; PSORS5 | 1 | |
| 605364 | PSORIASIS SUSCEPTIBILITY 6; PSORS6 | 1 | |
| 605606 | PSORIASIS SUSCEPTIBILITY 7; PSORS7 | 1 | |
| 610707 | PSORIASIS SUSCEPTIBILITY 8; PSORS8 | 1 | |
| 607857 | PSORIASIS SUSCEPTIBILITY 9; PSORS9 | 1 | |
| 607507 | PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO | 2 | |
| 614501 | PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM; | 1 | |
| 178300 | PTOSIS, HEREDITARY CONGENITAL 1; PTOS1 | 1 | |
| 300245 | PTOSIS, HEREDITARY CONGENITAL 2 | 1 | |
| 265100 | PULMONARY ALVEOLAR MICROLITHIASIS | 1 | |
| 606963 | PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; COPD | 1 | |
| 614742 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; | 1 | |
| 614743 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2; | 1 | |
| 178500 | PULMONARY FIBROSIS, IDIOPATHIC; IPF | 5 | |
| 608852 | PULMONARY FUNCTION | 1 | |
| 612862 | PULMONARY HYPERTENSION, CHRONIC THROMBOEMBOLIC, WITHOUT DEEP VEIN | 1 | |
| 615371 | PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO; PHN | 1 | |
| 178600 | PULMONARY HYPERTENSION, PRIMARY, 1; PPH1 | 1 | |
| 615342 | PULMONARY HYPERTENSION, PRIMARY, 2; PPH2 | 1 | |
| 615343 | PULMONARY HYPERTENSION, PRIMARY, 3; PPH3 | 1 | |
| 615344 | PULMONARY HYPERTENSION, PRIMARY, 4; PPH4 | 1 | |
| 265450 | PULMONARY VENOOCCLUSIVE DISEASE; PVOD | 1 | |
| 613179 | PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY | 1 | |
| 614204 | PUSTULAR PSORIASIS, GENERALIZED; PSORP | 1 | |
| 265800 | PYCNODYSOSTOSIS | 1 | |
| 610260 | PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 2; IHPS2 | 1 | |
| 612017 | PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 3; IHPS3 | 1 | |
| 300711 | PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 4; IHPS4 | 1 | |
| 612525 | PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 5; IHPS5 | 1 | |
| 604416 | PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE | 1 | |
| 610090 | PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY | 1 | |
| 266140 | PYROPOIKILOCYTOSIS, HEREDITARY; HPP | 1 | |
| 266150 | PYRUVATE CARBOXYLASE DEFICIENCY | 1 | |
| 312170 | PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD | 1 | |
| 614111 | PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD | 1 | |
| 245348 | PYRUVATE DEHYDROGENASE E2 DEFICIENCY; PDHDD | 1 | |
| 245349 | PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY; PDHXD | 1 | |
| 614462 | PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY; PDHLD | 1 | |
| 608782 | PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY; PDHPD | 1 | |
| 266200 | PYRUVATE KINASE DEFICIENCY OF RED CELLS | 1 | |
| 610141 | QT INTERVAL, VARIATION IN | 1 | |
| 601709 | QUEBEC PLATELET DISORDER; QPD | 1 | |
| 300378 | RADIAL RAY DEFICIENCY, X-LINKED | 1 | |
| 605463 | RADIATION SENSITIVITY/CHROMOSOME INSTABILITY SYNDROME, AUTOSOMAL DOMINANT | 1 | |
| 111620 | RADIN BLOOD GROUP ANTIGEN; RD | 1 | |
| 614416 | RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES; | 1 | |
| 605432 | RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA; RUSAT | 1 | |
| 179450 | RAGWEED SENSITIVITY | 1 | |
| 259775 | RAINE SYNDROME; RNS | 1 | |
| 613658 | RAJAB SYNDROME | 1 | |
| 266280 | RAPADILINO SYNDROME | 1 | |
| 179620 | RAPH BLOOD GROUP SYSTEM | 1 | |
| 129400 | RAPP-HODGKIN SYNDROME; RHS | 1 | |
| 612042 | RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1; RRQTL1 | 1 | |
| 266500 | REFSUM DISEASE, CLASSIC | 1 | |
| 191830 | RENAL ADYSPLASIA | 3 | |
| 144700 | RENAL CELL CARCINOMA, NONPAPILLARY; RCC | 7 | |
| 605074 | RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1 | 2 | |
| 300854 | RENAL CELL CARCINOMA, Xp11-ASSOCIATED; RCCX1 | 1 | |
| 137920 | RENAL CYSTS AND DIABETES SYNDROME; RCAD | 1 | |
| 601331 | RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO; CYSRD | 1 | |
| 161900 | RENAL FAILURE, PROGRESSIVE, WITH HYPERTENSION; RFH1 | 1 | |
| 233100 | RENAL GLUCOSURIA; GLYS1 | 1 | |
| 179800 | RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT | 1 | |
| 602722 | RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR | 1 | |
| 611590 | RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA | 1 | |
| 267300 | RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS | 1 | |
| 604278 | RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL | 1 | |
| 267430 | RENAL TUBULAR DYSGENESIS; RTD | 4 | |
| 208540 | RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1 | 1 | |
| 615415 | RENAL-HEPATIC-PANCREATIC DYSPLASIA 2; RHPD2 | 1 | |
| 309500 | RENPENNING SYNDROME 1; RENS1 | 1 | |
| 608045 | REPRESSOR OF TELOMERASE EXPRESSION 1 | 1 | |
| 609116 | RESPIRATORY RHYTHMICITY IN SLEEP | 1 | |
| 607276 | RESTING HEART RATE, VARIATION IN | 1 | |
| 102300 | RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1; RLS1 | 1 | |
| 608831 | RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 2; RLS2 | 1 | |
| 610438 | RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 3; RLS3 | 1 | |
| 610439 | RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 4; RLS4 | 1 | |
| 611242 | RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 5; RLS5 | 1 | |
| 611185 | RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 6; RLS6 | 1 | |
| 612853 | RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 7; RLS7 | 1 | |
| 615197 | RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 8; RLS8 | 1 | |
| 275210 | RESTRICTIVE DERMOPATHY, LETHAL | 2 | |
| 267500 | RETICULAR DYSGENESIS | 1 | |
| 614224 | RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS; | 1 | |
| 180020 | RETINAL CONE DYSTROPHY 1; RCD1 | 1 | |
| 610024 | RETINAL CONE DYSTROPHY 3A; RCD3A | 1 | |
| 610356 | RETINAL CONE DYSTROPHY 3B; RCD3B | 1 | |
| 610478 | RETINAL CONE DYSTROPHY 4; RCD4 | 1 | |
| 312550 | RETINAL DYSPLASIA, PRIMARY; PRD | 1 | |
| 615147 | RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME; RDCCAS | 1 | |
| 221900 | RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL; RNANC | 1 | |
| 180105 | RETINITIS PIGMENTOSA 10; RP10 | 1 | |
| 600138 | RETINITIS PIGMENTOSA 11; RP11 | 1 | |
| 600105 | RETINITIS PIGMENTOSA 12; RP12 | 1 | |
| 600059 | RETINITIS PIGMENTOSA 13; RP13 | 1 | |
| 600132 | RETINITIS PIGMENTOSA 14; RP14 | 1 | |
| 600852 | RETINITIS PIGMENTOSA 17; RP17 | 1 | |
| 601414 | RETINITIS PIGMENTOSA 18; RP18 | 1 | |
| 601718 | RETINITIS PIGMENTOSA 19; RP19 | 1 | |
| 180100 | RETINITIS PIGMENTOSA 1; RP1 | 1 | |
| 613794 | RETINITIS PIGMENTOSA 20; RP20 | 1 | |
| 602594 | RETINITIS PIGMENTOSA 22; RP22 | 1 | |
| 300424 | RETINITIS PIGMENTOSA 23; RP23 | 1 | |
| 300155 | RETINITIS PIGMENTOSA 24; RP24 | 1 | |
| 602772 | RETINITIS PIGMENTOSA 25; RP25 | 1 | |
| 608380 | RETINITIS PIGMENTOSA 26; RP26 | 1 | |
| 613750 | RETINITIS PIGMENTOSA 27; RP27 | 1 | |
| 606068 | RETINITIS PIGMENTOSA 28; RP28 | 1 | |
| 612165 | RETINITIS PIGMENTOSA 29; RP29 | 1 | |
| 312600 | RETINITIS PIGMENTOSA 2; RP2 | 1 | |
| 607921 | RETINITIS PIGMENTOSA 30; RP30 | 1 | |
| 609923 | RETINITIS PIGMENTOSA 31; RP31 | 1 | |
| 609913 | RETINITIS PIGMENTOSA 32; RP32 | 1 | |
| 610359 | RETINITIS PIGMENTOSA 33; RP33 | 1 | |
| 300605 | RETINITIS PIGMENTOSA 34; RP34 | 1 | |
| 610282 | RETINITIS PIGMENTOSA 35; RP35 | 1 | |
| 610599 | RETINITIS PIGMENTOSA 36; RP36 | 1 | |
| 611131 | RETINITIS PIGMENTOSA 37; RP37 | 1 | |
| 613862 | RETINITIS PIGMENTOSA 38; RP38 | 1 | |
| 613809 | RETINITIS PIGMENTOSA 39; RP39 | 1 | |
| 300029 | RETINITIS PIGMENTOSA 3; RP3 | 1 | |
| 613801 | RETINITIS PIGMENTOSA 40; RP40 | 1 | |
| 612095 | RETINITIS PIGMENTOSA 41; RP41 | 1 | |
| 612943 | RETINITIS PIGMENTOSA 42; RP42 | 1 | |
| 613810 | RETINITIS PIGMENTOSA 43; RP43 | 1 | |
| 613769 | RETINITIS PIGMENTOSA 44; RP44 | 1 | |
| 613767 | RETINITIS PIGMENTOSA 45; RP45 | 1 | |
| 612572 | RETINITIS PIGMENTOSA 46; RP46 | 1 | |
| 613758 | RETINITIS PIGMENTOSA 47; RP47 | 1 | |
| 613827 | RETINITIS PIGMENTOSA 48; RP48 | 1 | |
| 613756 | RETINITIS PIGMENTOSA 49; RP49 | 1 | |
| 613731 | RETINITIS PIGMENTOSA 4; RP4 | 1 | |
| 613194 | RETINITIS PIGMENTOSA 50; RP50 | 1 | |
| 613464 | RETINITIS PIGMENTOSA 51; RP51 | 1 | |
| 613428 | RETINITIS PIGMENTOSA 54; RP54 | 1 | |
| 613575 | RETINITIS PIGMENTOSA 55; RP55 | 1 | |
| 613581 | RETINITIS PIGMENTOSA 56; RP56 | 1 | |
| 613582 | RETINITIS PIGMENTOSA 57; RP57 | 1 | |
| 613617 | RETINITIS PIGMENTOSA 58; RP58 | 1 | |
| 613861 | RETINITIS PIGMENTOSA 59; RP59 | 1 | |
| 613983 | RETINITIS PIGMENTOSA 60; RP60 | 1 | |
| 614180 | RETINITIS PIGMENTOSA 61; RP61 | 1 | |
| 614181 | RETINITIS PIGMENTOSA 62; RP62 | 1 | |
| 614494 | RETINITIS PIGMENTOSA 63; RP63 | 1 | |
| 615233 | RETINITIS PIGMENTOSA 66; RP66 | 1 | |
| 312612 | RETINITIS PIGMENTOSA 6; RP6 | 1 | |
| 608133 | RETINITIS PIGMENTOSA 7; RP7 | 2 | |
| 180104 | RETINITIS PIGMENTOSA 9; RP9 | 1 | |
| 615434 | RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS | 1 | |
| 300455 | RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH | 1 | |
| 400004 | RETINITIS PIGMENTOSA, Y-LINKED; RPY | 1 | |
| 268000 | RETINITIS PIGMENTOSA; RP | 10 | |
| 180200 | RETINOBLASTOMA; RB1 | 1 | |
| 312700 | RETINOSCHISIS 1, X-LINKED, JUVENILE; RS1 | 1 | |
| 613454 | RETT SYNDROME, CONGENITAL VARIANT | 1 | |
| 312750 | RETT SYNDROME; RTT | 1 | |
| 268130 | REVESZ SYNDROME | 1 | |
| 613471 | REYNOLDS SYNDROME | 1 | |
| 268150 | RH-NULL, REGULATOR TYPE; RHN | 1 | |
| 609322 | RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1 | 1 | |
| 613325 | RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2 | 1 | |
| 268220 | RHABDOMYOSARCOMA 2; RMS2 | 3 | |
| 268210 | RHABDOMYOSARCOMA, EMBRYONAL, 1; RMSE1 | 1 | |
| 180295 | RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2 | 1 | |
| 604302 | RHEUMATOID ARTHRITIS, SYSTEMIC JUVENILE | 2 | |
| 180300 | RHEUMATOID ARTHRITIS; RA | 8 | |
| 215100 | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1 | 1 | |
| 222765 | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2; RCDP2 | 1 | |
| 600121 | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3; RCDP3 | 1 | |
| 615026 | RIBOFLAVIN DEFICIENCY; RBFVD | 1 | |
| 608611 | RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY | 1 | |
| 611943 | RIDDLE SYNDROME | 1 | |
| 208530 | RIGHT ATRIAL ISOMERISM; RAI | 1 | |
| 602771 | RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1 | 1 | |
| 614498 | RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL; RMFSL | 1 | |
| 180550 | RING DERMOID OF CORNEA; RDC | 1 | |
| 600332 | RIPPLING MUSCLE DISEASE 1; RMD1 | 1 | |
| 606072 | RIPPLING MUSCLE DISEASE; RMD | 1 | |
| 180700 | ROBINOW SYNDROME, AUTOSOMAL DOMINANT; DRS | 1 | |
| 268310 | ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS | 1 | |
| 180750 | ROBINOW-SORAUF SYNDROME | 1 | |
| 300258 | ROIFMAN SYNDROME | 1 | |
| 613328 | ROIFMAN-CHITAYAT SYNDROME | 1 | |
| 300643 | ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED; | 1 | |
| 268400 | ROTHMUND-THOMSON SYNDROME; RTS | 1 | |
| 180800 | ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA | 2 | |
| 180849 | RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 | 2 | |
| 613684 | RUBINSTEIN-TAYBI SYNDROME 2; RSTS2 | 1 | |
| 268700 | SACCHAROPINURIA | 1 | |
| 600145 | SACRAL DEFECT WITH ANTERIOR MENINGOCELE | 1 | |
| 101400 | SAETHRE-CHOTZEN SYNDROME; SCS | 2 | |
| 181030 | SALIVARY GLAND ADENOMA, PLEOMORPHIC | 1 | |
| 268800 | SANDHOFF DISEASE | 1 | |
| 609464 | SARCOIDOSIS, EARLY-ONSET | 1 | |
| 181000 | SARCOIDOSIS, SUSCEPTIBILITY TO, 1; SS1 | 1 | |
| 612387 | SARCOIDOSIS, SUSCEPTIBILITY TO, 2; SS2 | 1 | |
| 612388 | SARCOIDOSIS, SUSCEPTIBILITY TO, 3; SS3 | 1 | |
| 300813 | SARCOMA, SYNOVIAL | 2 | |
| 268900 | SARCOSINEMIA; SARCOS | 1 | |
| 181270 | SCALP-EAR-NIPPLE SYNDROME; SENS | 1 | |
| 609579 | SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION | 1 | |
| 181430 | SCAPULOPERONEAL MYOPATHY, MYH7-RELATED; SPMM | 1 | |
| 300695 | SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM | 1 | |
| 181405 | SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY; SPSMA | 1 | |
| 181400 | SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE; SCPNK | 1 | |
| 607016 | SCHEIE SYNDROME | 1 | |
| 163200 | SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME; SFM | 2 | |
| 609241 | SCHINDLER DISEASE, TYPE I | 1 | |
| 269150 | SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME | 1 | |
| 181460 | SCHISTOSOMA MANSONI INFECTION, SUSCEPTIBILITY/RESISTANCE TO | 1 | |
| 269160 | SCHIZENCEPHALY | 3 | |
| 605419 | SCHIZOPHRENIA 10; SCZD10 | 1 | |
| 608078 | SCHIZOPHRENIA 11 | 1 | |
| 608543 | SCHIZOPHRENIA 12 | 1 | |
| 613025 | SCHIZOPHRENIA 13; SCZD13 | 1 | |
| 612361 | SCHIZOPHRENIA 14 | 1 | |
| 613950 | SCHIZOPHRENIA 15; SCZD15 | 1 | |
| 615232 | SCHIZOPHRENIA 18; SCZD18 | 1 | |
| 181510 | SCHIZOPHRENIA 1; SCZD1 | 1 | |
| 603342 | SCHIZOPHRENIA 2; SCZD2 | 1 | |
| 600511 | SCHIZOPHRENIA 3; SCZD3 | 1 | |
| 600850 | SCHIZOPHRENIA 4; SCZD4 | 1 | |
| 603013 | SCHIZOPHRENIA 6; SCZD6 | 1 | |
| 603176 | SCHIZOPHRENIA 7; SCZD7 | 1 | |
| 603206 | SCHIZOPHRENIA 8; SCZD8 | 1 | |
| 604906 | SCHIZOPHRENIA 9; SCZD9 | 1 | |
| 181500 | SCHIZOPHRENIA; SCZD | 15 | |
| 269250 | SCHNECKENBECKEN DYSPLASIA | 1 | |
| 121800 | SCHNYDER CORNEAL DYSTROPHY; SCCD | 1 | |
| 224750 | SCHOPF-SCHULZ-PASSARGE SYNDROME; SSPS | 1 | |
| 162091 | SCHWANNOMATOSIS | 1 | |
| 255800 | SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 | 1 | |
| 269500 | SCLEROSTEOSIS 1; SOST1 | 1 | |
| 614305 | SCLEROSTEOSIS 2; SOST2 | 1 | |
| 181600 | SCLEROTYLOSIS | 1 | |
| 181800 | SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 1; IS1 | 1 | |
| 607354 | SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 2; IS2 | 1 | |
| 608765 | SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 3; IS3 | 1 | |
| 612238 | SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 4; IS4 | 1 | |
| 612239 | SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 5; IS5 | 1 | |
| 262890 | SCOTT SYNDROME; SCTS | 1 | |
| 269600 | SEA-BLUE HISTIOCYTE DISEASE | 1 | |
| 605249 | SEBASTIAN SYNDROME; SBS | 1 | |
| 610227 | SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS | 1 | |
| 210600 | SECKEL SYNDROME 1; SCKL1 | 1 | |
| 606744 | SECKEL SYNDROME 2; SCKL2 | 1 | |
| 608664 | SECKEL SYNDROME 3; SCKL3 | 1 | |
| 613676 | SECKEL SYNDROME 4; SCKL4 | 1 | |
| 613823 | SECKEL SYNDROME 5; SCKL5 | 1 | |
| 614728 | SECKEL SYNDROME 6; SCKL6 | 1 | |
| 614851 | SECKEL SYNDROME 7; SCKL7 | 1 | |
| 605407 | SEGAWA SYNDROME, AUTOSOMAL RECESSIVE | 1 | |
| 601764 | SEIZURES, BENIGN FAMILIAL INFANTILE, 1; BFIS1 | 1 | |
| 605751 | SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2 | 1 | |
| 607745 | SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3 | 1 | |
| 612627 | SEIZURES, BENIGN FAMILIAL INFANTILE, 4; BFIS4 | 1 | |
| 121200 | SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1 | 1 | |
| 121201 | SEIZURES, BENIGN FAMILIAL NEONATAL, 2; BFNS2 | 1 | |
| 612780 | SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND | 1 | |
| 269840 | SELECTIVE T-CELL DEFECT; STCD | 1 | |
| 212350 | SENGERS SYNDROME | 1 | |
| 266900 | SENIOR-LOKEN SYNDROME 1; SLSN1 | 1 | |
| 606995 | SENIOR-LOKEN SYNDROME 3; SLSN3 | 1 | |
| 606996 | SENIOR-LOKEN SYNDROME 4; SLSN4 | 1 | |
| 609254 | SENIOR-LOKEN SYNDROME 5; SLSN5 | 1 | |
| 610189 | SENIOR-LOKEN SYNDROME 6; SLSN6 | 1 | |
| 613615 | SENIOR-LOKEN SYNDROME 7; SLSN7 | 1 | |
| 607459 | SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO | 2 | |
| 182230 | SEPTOOPTIC DYSPLASIA | 1 | |
| 611291 | SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION, | 1 | |
| 602450 | SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION | 2 | |
| 601457 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, | 2 | |
| 600802 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, | 1 | |
| 102700 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, | 1 | |
| 608971 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, | 4 | |
| 300400 | SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1 | 1 | |
| 608579 | SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO | 2 | |
| 613498 | SEX HORMONE-BINDING GLOBULIN CIRCULATING LEVEL QUANTITATIVE TRAIT | 1 | |
| 615328 | SHAHEEN SYNDROME; SHNS | 1 | |
| 609620 | SHORT QT SYNDROME 1; SQT1 | 1 | |
| 609621 | SHORT QT SYNDROME 2; SQT2 | 1 | |
| 609622 | SHORT QT SYNDROME 3; SQT3 | 1 | |
| 263520 | SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA | 1 | |
| 615087 | SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIB | 1 | |
| 263510 | SHORT RIB-POLYDACTYLY SYNDROME, TYPE III | 1 | |
| 614091 | SHORT RIB-POLYDACTYLY SYNDROME, TYPE V; SRPS5 | 1 | |
| 615503 | SHORT RIB-POLYDACTYLY SYNDROME, TYPE VI; SRPS6 | 1 | |
| 612975 | SHORT SLEEPER | 1 | |
| 604271 | SHORT STATURE, IDIOPATHIC, AUTOSOMAL | 2 | |
| 614813 | SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS; | 1 | |
| 614800 | SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY; SOPH | 1 | |
| 269880 | SHORT SYNDROME | 1 | |
| 182212 | SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; SGS | 1 | |
| 260400 | SHWACHMAN-DIAMOND SYNDROME; SDS | 1 | |
| 269921 | SIALURIA | 1 | |
| 604369 | SIALURIA, FINNISH TYPE | 1 | |
| 608567 | SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE; SSS1 | 1 | |
| 163800 | SICK SINUS SYNDROME 2, AUTOSOMAL DOMINANT; SSS2 | 1 | |
| 614090 | SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO; SSS3 | 1 | |
| 603903 | SICKLE CELL ANEMIA | 1 | |
| 300263 | SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; MRXSSD | 1 | |
| 180860 | SILVER-RUSSELL SYNDROME; SRS | 1 | |
| 312870 | SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1 | 2 | |
| 300209 | SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 | 1 | |
| 614896 | SINOATRIAL NODE DYSFUNCTION AND DEAFNESS; SANDD | 1 | |
| 210250 | SITOSTEROLEMIA | 2 | |
| 270200 | SJOGREN-LARSSON SYNDROME; SLS | 1 | |
| 612447 | SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION | 1 | |
| 607655 | SKIN FRAGILITY-WOOLLY HAIR SYNDROME; SFWHS | 1 | |
| 612267 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 10; SHEP10 | 1 | |
| 612271 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 11; SHEP11 | 1 | |
| 227220 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1 | 2 | |
| 266300 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2; SHEP2 | 1 | |
| 601800 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3 | 1 | |
| 113750 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 4; SHEP4 | 1 | |
| 227240 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5; SHEP5 | 1 | |
| 210750 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 6; SHEP6 | 1 | |
| 611664 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 7; SHEP7 | 1 | |
| 611724 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 8; SHEP8 | 1 | |
| 611742 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 9; SHEP9 | 1 | |
| 608236 | SLOWED NERVE CONDUCTION VELOCITY, AUTOSOMAL DOMINANT | 1 | |
| 182280 | SMALL CELL CANCER OF THE LUNG | 1 | |
| 147891 | SMALL PATELLA SYNDROME; SPS | 1 | |
| 270400 | SMITH-LEMLI-OPITZ SYNDROME; SLOS | 1 | |
| 182290 | SMITH-MAGENIS SYNDROME; SMS | 1 | |
| 607326 | SMITH-MCCORT DYSPLASIA 1; SMC1 | 1 | |
| 615222 | SMITH-MCCORT DYSPLASIA 2; SMC2 | 1 | |
| 611003 | SMOKING AS A QUANTITATIVE TRAIT LOCUS 1; SQTL1 | 1 | |
| 611004 | SMOKING AS A QUANTITATIVE TRAIT LOCUS 2; SQTL2 | 1 | |
| 612052 | SMOKING AS A QUANTITATIVE TRAIT LOCUS 3; SQTL3 | 2 | |
| 613508 | SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1; SSQTL1 | 1 | |
| 147250 | SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR; SMMCI | 1 | |
| 614689 | SOLUBLE INTERLEUKIN-6 RECEPTOR, SERUM LEVEL OF, QUANTITATIVE TRAIT | 1 | |
| 117550 | SOTOS SYNDROME 1; SOTOS1 | 1 | |
| 614753 | SOTOS SYNDROME 2; SOTOS2 | 1 | |
| 108600 | SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1 | 1 | |
| 611302 | SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE; SPAX2 | 1 | |
| 611390 | SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE; SPAX3 | 1 | |
| 613672 | SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE; SPAX4 | 1 | |
| 614487 | SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE; SPAX5 | 1 | |
| 270550 | SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS | 1 | |
| 607225 | SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP | 1 | |
| 604187 | SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10 | 1 | |
| 604360 | SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11 | 1 | |
| 604805 | SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT; SPG12 | 1 | |
| 605280 | SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT; SPG13 | 1 | |
| 605229 | SPASTIC PARAPLEGIA 14, AUTOSOMAL RECESSIVE; SPG14 | 1 | |
| 270700 | SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE; SPG15 | 1 | |
| 300266 | SPASTIC PARAPLEGIA 16, X-LINKED; SPG16 | 1 | |
| 270685 | SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT; SPG17 | 1 | |
| 611225 | SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE; SPG18 | 1 | |
| 607152 | SPASTIC PARAPLEGIA 19, AUTOSOMAL DOMINANT; SPG19 | 1 | |
| 312920 | SPASTIC PARAPLEGIA 2, X-LINKED; SPG2 | 1 | |
| 275900 | SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20 | 1 | |
| 270750 | SPASTIC PARAPLEGIA 23; SPG23 | 1 | |
| 607584 | SPASTIC PARAPLEGIA 24, AUTOSOMAL RECESSIVE; SPG24 | 1 | |
| 608220 | SPASTIC PARAPLEGIA 25, AUTOSOMAL RECESSIVE; SPG25 | 1 | |
| 609041 | SPASTIC PARAPLEGIA 27, AUTOSOMAL RECESSIVE; SPG27 | 1 | |
| 609340 | SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE; SPG28 | 1 | |
| 609727 | SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT; SPG29 | 1 | |
| 182600 | SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A | 1 | |
| 610357 | SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE; SPG30 | 1 | |
| 610250 | SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT; SPG31 | 1 | |
| 611252 | SPASTIC PARAPLEGIA 32, AUTOSOMAL RECESSIVE; SPG32 | 1 | |
| 610244 | SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT; SPG33 | 1 | |
| 300750 | SPASTIC PARAPLEGIA 34, X-LINKED; SPG34 | 1 | |
| 612319 | SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE; SPG35 | 1 | |
| 613096 | SPASTIC PARAPLEGIA 36, AUTOSOMAL DOMINANT; SPG36 | 1 | |
| 611945 | SPASTIC PARAPLEGIA 37, AUTOSOMAL DOMINANT; SPG37 | 1 | |
| 612335 | SPASTIC PARAPLEGIA 38, AUTOSOMAL DOMINANT; SPG38 | 1 | |
| 612020 | SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE; SPG39 | 1 | |
| 182601 | SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4 | 1 | |
| 613364 | SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT; SPG41 | 1 | |
| 612539 | SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT; SPG42 | 1 | |
| 615043 | SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE; SPG43 | 1 | |
| 613206 | SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE; SPG44 | 1 | |
| 613162 | SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE; SPG45 | 1 | |
| 614409 | SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE; SPG46 | 1 | |
| 614066 | SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 | 1 | |
| 613647 | SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE; SPG48 | 1 | |
| 615031 | SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE; SPG49 | 1 | |
| 612936 | SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50 | 1 | |
| 613744 | SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG51 | 1 | |
| 614067 | SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52 | 1 | |
| 614898 | SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53 | 1 | |
| 615033 | SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE; SPG54 | 1 | |
| 615030 | SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE; SPG56 | 1 | |
| 270800 | SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A | 1 | |
| 600146 | SPASTIC PARAPLEGIA 5B, AUTOSOMAL RECESSIVE; SPG5B | 1 | |
| 600363 | SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT; SPG6 | 1 | |
| 607259 | SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7 | 1 | |
| 603563 | SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT; SPG8 | 1 | |
| 601162 | SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; SPG9 | 1 | |
| 609541 | SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY; SPOAN | 1 | |
| 313000 | SPATIAL VISUALIZATION, APTITUDE FOR | 1 | |
| 245480 | SPECIFIC GRANULE DEFICIENCY; SGD | 1 | |
| 606711 | SPECIFIC LANGUAGE IMPAIRMENT 1; SLI1 | 1 | |
| 606712 | SPECIFIC LANGUAGE IMPAIRMENT 2; SLI2 | 1 | |
| 607134 | SPECIFIC LANGUAGE IMPAIRMENT 3; SLI3 | 1 | |
| 612514 | SPECIFIC LANGUAGE IMPAIRMENT 4; SLI4 | 1 | |
| 615432 | SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5 | 1 | |
| 602081 | SPEECH-LANGUAGE DISORDER 1; SPCH1 | 1 | |
| 608445 | SPEECH-SOUND DISORDER | 1 | |
| 614822 | SPERMATOGENIC FAILURE 10; SPGF10 | 1 | |
| 615081 | SPERMATOGENIC FAILURE 11; SPGF11 | 1 | |
| 615413 | SPERMATOGENIC FAILURE 12; SPGF12 | 1 | |
| 108420 | SPERMATOGENIC FAILURE 2; SPGF2 | 1 | |
| 606766 | SPERMATOGENIC FAILURE 3; SPGF3 | 1 | |
| 270960 | SPERMATOGENIC FAILURE 4; SPGF4 | 1 | |
| 243060 | SPERMATOGENIC FAILURE 5; SPGF5 | 1 | |
| 102530 | SPERMATOGENIC FAILURE 6; SPGF6 | 2 | |
| 612997 | SPERMATOGENIC FAILURE 7; SPGF7 | 3 | |
| 613957 | SPERMATOGENIC FAILURE 8; SPGF8 | 1 | |
| 613958 | SPERMATOGENIC FAILURE 9; SPGF9 | 1 | |
| 309120 | SPERMATOGENIC FAILURE, X-LINKED, 2; SPGFX2 | 1 | |
| 400042 | SPERMATOGENIC FAILURE, Y-LINKED, 1; SPGFY1 | 1 | |
| 415000 | SPERMATOGENIC FAILURE, Y-LINKED, 2; SPGFY2 | 1 | |
| 270970 | SPHEROCYTOSIS, TYPE 3; SPH3 | 1 | |
| 612653 | SPHEROCYTOSIS, TYPE 4; SPH4 | 1 | |
| 612690 | SPHEROCYTOSIS, TYPE 5; SPH5 | 1 | |
| 313200 | SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 | 1 | |
| 159950 | SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY; SMAPME | 1 | |
| 604320 | SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1; DSMA1 | 1 | |
| 605726 | SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2; DSMA2 | 1 | |
| 607088 | SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 3; DSMA3 | 1 | |
| 611067 | SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4; DSMA4 | 1 | |
| 614881 | SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5; DSMA5 | 1 | |
| 600175 | SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE | 1 | |
| 300489 | SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3; SMAX3 | 1 | |
| 615048 | SPINAL MUSCULAR ATROPHY, JOKELA TYPE; SMAJ | 1 | |
| 182980 | SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE; SMAFK | 1 | |
| 158600 | SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL | 1 | |
| 615290 | SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AUTOSOMAL | 1 | |
| 253300 | SPINAL MUSCULAR ATROPHY, TYPE I; SMA1 | 1 | |
| 253550 | SPINAL MUSCULAR ATROPHY, TYPE II; SMA2 | 1 | |
| 253400 | SPINAL MUSCULAR ATROPHY, TYPE III; SMA3 | 2 | |
| 271150 | SPINAL MUSCULAR ATROPHY, TYPE IV; SMA4 | 1 | |
| 301830 | SPINAL MUSCULAR ATROPHY, X-LINKED 2; SMAX2 | 1 | |
| 603516 | SPINOCEREBELLAR ATAXIA 10; SCA10 | 1 | |
| 604432 | SPINOCEREBELLAR ATAXIA 11; SCA11 | 1 | |
| 604326 | SPINOCEREBELLAR ATAXIA 12; SCA12 | 1 | |
| 605259 | SPINOCEREBELLAR ATAXIA 13; SCA13 | 1 | |
| 605361 | SPINOCEREBELLAR ATAXIA 14; SCA14 | 1 | |
| 606658 | SPINOCEREBELLAR ATAXIA 15; SCA15 | 1 | |
| 607136 | SPINOCEREBELLAR ATAXIA 17; SCA17 | 1 | |
| 607458 | SPINOCEREBELLAR ATAXIA 18; SCA18 | 1 | |
| 607346 | SPINOCEREBELLAR ATAXIA 19; SCA19 | 1 | |
| 164400 | SPINOCEREBELLAR ATAXIA 1; SCA1 | 1 | |
| 608687 | SPINOCEREBELLAR ATAXIA 20; SCA20 | 1 | |
| 607454 | SPINOCEREBELLAR ATAXIA 21; SCA21 | 1 | |
| 610245 | SPINOCEREBELLAR ATAXIA 23; SCA23 | 1 | |
| 608703 | SPINOCEREBELLAR ATAXIA 25; SCA25 | 1 | |
| 609306 | SPINOCEREBELLAR ATAXIA 26; SCA26 | 1 | |
| 609307 | SPINOCEREBELLAR ATAXIA 27; SCA27 | 1 | |
| 610246 | SPINOCEREBELLAR ATAXIA 28; SCA28 | 1 | |
| 117360 | SPINOCEREBELLAR ATAXIA 29; SCA29 | 1 | |
| 183090 | SPINOCEREBELLAR ATAXIA 2; SCA2 | 1 | |
| 613371 | SPINOCEREBELLAR ATAXIA 30; SCA30 | 1 | |
| 117210 | SPINOCEREBELLAR ATAXIA 31; SCA31 | 1 | |
| 613909 | SPINOCEREBELLAR ATAXIA 32; SCA32 | 1 | |
| 133190 | SPINOCEREBELLAR ATAXIA 34; SCA34 | 1 | |
| 613908 | SPINOCEREBELLAR ATAXIA 35; SCA35 | 1 | |
| 614153 | SPINOCEREBELLAR ATAXIA 36; SCA36 | 1 | |
| 600224 | SPINOCEREBELLAR ATAXIA 5; SCA5 | 1 | |
| 183086 | SPINOCEREBELLAR ATAXIA 6; SCA6 | 1 | |
| 164500 | SPINOCEREBELLAR ATAXIA 7; SCA7 | 1 | |
| 608768 | SPINOCEREBELLAR ATAXIA 8; SCA8 | 2 | |
| 612876 | SPINOCEREBELLAR ATAXIA 9; SCA9 | 1 | |
| 613728 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10; SCAR10 | 1 | |
| 614229 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11; SCAR11 | 1 | |
| 614322 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12; SCAR12 | 1 | |
| 614831 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13 | 1 | |
| 615386 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14; SCAR14 | 1 | |
| 606002 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1; SCAR1 | 1 | |
| 213200 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2; SCAR2 | 1 | |
| 271250 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3; SCAR3 | 1 | |
| 607317 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4; SCAR4 | 1 | |
| 606937 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5; SCAR5 | 1 | |
| 608029 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 6; SCAR6 | 1 | |
| 609270 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7; SCAR7 | 1 | |
| 610743 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; SCAR8 | 1 | |
| 607250 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY; | 1 | |
| 302500 | SPINOCEREBELLAR ATAXIA, X-LINKED 1; SCAX1 | 1 | |
| 302600 | SPINOCEREBELLAR ATAXIA, X-LINKED 2 | 1 | |
| 301790 | SPINOCEREBELLAR ATAXIA, X-LINKED 3 | 1 | |
| 301840 | SPINOCEREBELLAR ATAXIA, X-LINKED 4 | 1 | |
| 300703 | SPINOCEREBELLAR ATAXIA, X-LINKED 5; SCAX5 | 1 | |
| 220600 | SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL | 1 | |
| 313350 | SPLIT-HAND/FOOT MALFORMATION 2; SHFM2 | 1 | |
| 246560 | SPLIT-HAND/FOOT MALFORMATION 3; SHFM3 | 1 | |
| 605289 | SPLIT-HAND/FOOT MALFORMATION 4; SHFM4 | 1 | |
| 606708 | SPLIT-HAND/FOOT MALFORMATION 5; SHFM5 | 1 | |
| 225300 | SPLIT-HAND/FOOT MALFORMATION 6; SHFM6 | 1 | |
| 119100 | SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1; SHFLD1 | 1 | |
| 610685 | SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 2; SHFLD2 | 1 | |
| 613330 | SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA; SMMD | 1 | |
| 106300 | SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1 | 1 | |
| 183840 | SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 2; SPDA2 | 1 | |
| 613238 | SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 3; SPDA3 | 1 | |
| 272460 | SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME; SCT | 1 | |
| 612350 | SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE | 1 | |
| 277300 | SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE; SCDO1 | 2 | |
| 608681 | SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE; SCDO2 | 1 | |
| 609813 | SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE; SCDO3 | 1 | |
| 613686 | SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4 | 1 | |
| 607944 | SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI | 1 | |
| 603546 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 2; SEMDJL2 | 1 | |
| 271640 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR | 1 | |
| 612813 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE | 1 | |
| 608728 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED | 1 | |
| 602111 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE | 1 | |
| 184250 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE; SEMDSTWK | 1 | |
| 183900 | SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC | 1 | |
| 313400 | SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT | 1 | |
| 143095 | SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS | 1 | |
| 608361 | SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE | 1 | |
| 184095 | SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE | 1 | |
| 271665 | SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE | 1 | |
| 184252 | SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE; SMDK | 1 | |
| 271700 | SPONDYLOPERIPHERAL DYSPLASIA | 1 | |
| 606688 | SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES | 1 | |
| 275355 | SQUAMOUS CELL CARCINOMA, HEAD AND NECK; HNSCC | 3 | |
| 184460 | STAPES ANKYLOSIS WITH BROAD THUMB AND TOES | 1 | |
| 248200 | STARGARDT DISEASE 1; STGD1 | 2 | |
| 600110 | STARGARDT DISEASE 3; STGD3 | 1 | |
| 603786 | STARGARDT DISEASE 4; STGD4 | 1 | |
| 612221 | STATURE QUANTITATIVE TRAIT LOCUS 10; STQTL10 | 1 | |
| 612223 | STATURE QUANTITATIVE TRAIT LOCUS 11; STQTL11 | 1 | |
| 612224 | STATURE QUANTITATIVE TRAIT LOCUS 12; STQTL12 | 1 | |
| 612226 | STATURE QUANTITATIVE TRAIT LOCUS 13; STQTL13 | 1 | |
| 612228 | STATURE QUANTITATIVE TRAIT LOCUS 14; STQTL14 | 1 | |
| 612578 | STATURE QUANTITATIVE TRAIT LOCUS 15; STQTL15 | 1 | |
| 612579 | STATURE QUANTITATIVE TRAIT LOCUS 16; STQTL16 | 1 | |
| 612737 | STATURE QUANTITATIVE TRAIT LOCUS 17; STQTL17 | 1 | |
| 612892 | STATURE QUANTITATIVE TRAIT LOCUS 18; STQTL18 | 1 | |
| 612893 | STATURE QUANTITATIVE TRAIT LOCUS 19; STQTL19 | 1 | |
| 612894 | STATURE QUANTITATIVE TRAIT LOCUS 20; STQTL20 | 1 | |
| 613440 | STATURE QUANTITATIVE TRAIT LOCUS 21; STQTL21 | 1 | |
| 613547 | STATURE QUANTITATIVE TRAIT LOCUS 22; STQTL22 | 1 | |
| 613548 | STATURE QUANTITATIVE TRAIT LOCUS 23; STQTL23 | 1 | |
| 613549 | STATURE QUANTITATIVE TRAIT LOCUS 24; STQTL24 | 1 | |
| 606256 | STATURE QUANTITATIVE TRAIT LOCUS 2; STQTL2 | 1 | |
| 606257 | STATURE QUANTITATIVE TRAIT LOCUS 3; STQTL3 | 1 | |
| 606258 | STATURE QUANTITATIVE TRAIT LOCUS 4; STQTL4 | 1 | |
| 608982 | STATURE QUANTITATIVE TRAIT LOCUS 5; STQTL5 | 1 | |
| 300591 | STATURE QUANTITATIVE TRAIT LOCUS 6; STQTL6 | 1 | |
| 609822 | STATURE QUANTITATIVE TRAIT LOCUS 7; STQTL7 | 1 | |
| 610114 | STATURE QUANTITATIVE TRAIT LOCUS 8; STQTL8 | 1 | |
| 184500 | STEATOCYSTOMA MULTIPLEX | 1 | |
| 609508 | STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR | 1 | |
| 108300 | STICKLER SYNDROME, TYPE I; STL1 | 1 | |
| 604841 | STICKLER SYNDROME, TYPE II; STL2 | 1 | |
| 184840 | STICKLER SYNDROME, TYPE III; STL3 | 1 | |
| 614134 | STICKLER SYNDROME, TYPE IV; STL4 | 1 | |
| 614284 | STICKLER SYNDROME, TYPE V; STL5 | 1 | |
| 184900 | STIFF SKIN SYNDROME; SSKS | 1 | |
| 300434 | STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME | 1 | |
| 185100 | STRABISMUS, SUSCEPTIBILITY TO | 1 | |
| 609161 | STRIATAL DEGENERATION, AUTOSOMAL DOMINANT; ADSD | 1 | |
| 271930 | STRIATONIGRAL DEGENERATION, INFANTILE; SNDI | 1 | |
| 601367 | STROKE, ISCHEMIC | 5 | |
| 606799 | STROKE, SUSCEPTIBILITY TO, 1 | 1 | |
| 185300 | STURGE-WEBER SYNDROME; SWS | 1 | |
| 184450 | STUTTERING, FAMILIAL PERSISTENT, 1; STUT1 | 1 | |
| 609261 | STUTTERING, FAMILIAL PERSISTENT, 2; STUT2 | 1 | |
| 614655 | STUTTERING, FAMILIAL PERSISTENT, 3; STUT3 | 1 | |
| 614668 | STUTTERING, FAMILIAL PERSISTENT, 4; STUT4 | 1 | |
| 601559 | STUVE-WIEDEMANN SYNDROME | 1 | |
| 271980 | SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; SSADHD | 1 | |
| 245050 | SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY | 1 | |
| 222900 | SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID | 1 | |
| 272120 | SUDDEN INFANT DEATH SYNDROME | 1 | |
| 608800 | SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME; SIDDT | 1 | |
| 272300 | SULFOCYSTEINURIA | 1 | |
| 613700 | SUPERNUMERARY DER(22)t(8;22) SYNDROME | 1 | |
| 191181 | SUPPRESSOR OF TUMORIGENICITY 3; ST3 | 1 | |
| 601104 | SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1 | 1 | |
| 609454 | SUPRANUCLEAR PALSY, PROGRESSIVE, 2; PSNP2 | 1 | |
| 610898 | SUPRANUCLEAR PALSY, PROGRESSIVE, 3; PSNP3 | 1 | |
| 185500 | SUPRAVALVULAR AORTIC STENOSIS; SVAS | 1 | |
| 265120 | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1; SMDP1 | 1 | |
| 610913 | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2; SMDP2 | 1 | |
| 610921 | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3; SMDP3 | 1 | |
| 614370 | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5; SMDP5 | 1 | |
| 272370 | SUSCEPTIBILITY TO LYSIS BY ALLOREACTIVE NATURAL KILLER CELLS; EC1 | 1 | |
| 108985 | SVEINSSON CHORIORETINAL ATROPHY; SCRA | 1 | |
| 185800 | SYMPHALANGISM, PROXIMAL, 1A; SYM1A | 1 | |
| 615298 | SYMPHALANGISM, PROXIMAL, 1B; SYM1B | 1 | |
| 609432 | SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION; MSSD | 1 | |
| 186100 | SYNDACTYLY, TYPE III | 1 | |
| 186200 | SYNDACTYLY, TYPE IV | 1 | |
| 186300 | SYNDACTYLY, TYPE V | 1 | |
| 612759 | SYNESTHESIA | 1 | |
| 186000 | SYNPOLYDACTYLY 1; SPD1 | 1 | |
| 608180 | SYNPOLYDACTYLY 2; SPD2 | 1 | |
| 610234 | SYNPOLYDACTYLY 3; SPD3 | 1 | |
| 614420 | SYSTEMIC LUPUS ERYTHEMATOSUS 16; SLEB16 | 1 | |
| 607279 | SYSTEMIC LUPUS ERYTHEMATOSUS WITH HEMOLYTIC ANEMIA, SUSCEPTIBILITY | 1 | |
| 607965 | SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 1; | 1 | |
| 607966 | SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 2; | 1 | |
| 607967 | SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 3; | 1 | |
| 612251 | SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 10; SLEB10 | 1 | |
| 612253 | SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 11; SLEB11 | 1 | |
| 612254 | SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 12; SLEB12 | 1 | |
| 612378 | SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 13; SLEB13 | 1 | |
| 613145 | SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 14; SLEB14 | 1 | |
| 300809 | SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 15; SLEB15 | 1 | |
| 601744 | SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 1; SLEB1 | 1 | |
| 605218 | SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 2; SLEB2 | 1 | |
| 605480 | SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 3; SLEB3 | 1 | |
| 608437 | SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 4; SLEB4 | 1 | |
| 609903 | SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 5; SLEB5 | 1 | |
| 609939 | SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 6; SLEB6 | 1 | |
| 610065 | SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 7; SLEB7 | 1 | |
| 610066 | SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 8; SLEB8 | 1 | |
| 610927 | SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9; SLEB9 | 1 | |
| 152700 | SYSTEMIC LUPUS ERYTHEMATOSUS; SLE | 6 | |
| 601705 | T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY | 1 | |
| 614868 | T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH | 1 | |
| 615387 | T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY | 1 | |
| 205400 | TANGIER DISEASE; TGD | 1 | |
| 311900 | TARP SYNDROME; TARPS | 1 | |
| 186570 | TARSAL-CARPAL COALITION SYNDROME; TCC | 1 | |
| 272800 | TAY-SACHS DISEASE; TSD | 1 | |
| 187260 | TELANGIECTASIA, HEREDITARY BENIGN | 1 | |
| 187300 | TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER; | 1 | |
| 600376 | TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2; HHT2 | 1 | |
| 601101 | TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 3; HHT3 | 1 | |
| 610655 | TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 4; HHT4 | 1 | |
| 615506 | TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5; HHT5 | 1 | |
| 609113 | TELOMERE LENGTH, MEAN LEUKOCYTE | 1 | |
| 187290 | TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, H142; | 1 | |
| 187310 | TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, K12 | 1 | |
| 187320 | TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, ts13; | 1 | |
| 187330 | TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, ts546; | 1 | |
| 116950 | TEMPERATURE-SENSITIVE AF8 COMPLEMENT; AF8T | 1 | |
| 605282 | TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME; TPBS | 1 | |
| 218340 | TEMTAMY SYNDROME; TEMTYS | 1 | |
| 300244 | TERMINAL OSSEOUS DYSPLASIA; TOD | 1 | |
| 615542 | TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE; TACHD | 1 | |
| 300228 | TESTICULAR GERM CELL TUMOR 1; TGCT1 | 1 | |
| 273300 | TESTICULAR GERM CELL TUMOR; TGCT | 1 | |
| 610441 | TESTICULAR MICROLITHIASIS | 1 | |
| 273395 | TETRAAMELIA, AUTOSOMAL RECESSIVE | 1 | |
| 187500 | TETRALOGY OF FALLOT; TOF | 6 | |
| 614846 | TETRASOMY 15q26 | 1 | |
| 614290 | TETRASOMY 18p | 1 | |
| 187600 | THANATOPHORIC DYSPLASIA, TYPE I; TD1 | 1 | |
| 187601 | THANATOPHORIC DYSPLASIA, TYPE II; TD2 | 1 | |
| 607483 | THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE | 1 | |
| 613710 | THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION | 1 | |
| 614458 | THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY | 1 | |
| 249270 | THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA | 1 | |
| 610460 | THIOPURINE S-METHYLTRANSFERASE DEFICIENCY | 1 | |
| 171200 | THIOUREA TASTING | 1 | |
| 313850 | THORACOABDOMINAL SYNDROME; THAS | 1 | |
| 273750 | THREE M SYNDROME 1; 3M1 | 1 | |
| 612921 | THREE M SYNDROME 2; 3M2 | 1 | |
| 614205 | THREE M SYNDROME 3; 3M3 | 1 | |
| 187950 | THROMBOCYTHEMIA 1; THCYT1 | 2 | |
| 601977 | THROMBOCYTHEMIA 2; THCYT2 | 1 | |
| 614521 | THROMBOCYTHEMIA 3; THCYT3 | 1 | |
| 300331 | THROMBOCYTHEMIA, X-LINKED; THCYTX | 1 | |
| 313900 | THROMBOCYTOPENIA 1; THC1 | 1 | |
| 188000 | THROMBOCYTOPENIA 2; THC2 | 2 | |
| 612004 | THROMBOCYTOPENIA 4; THC4 | 1 | |
| 314050 | THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED; XLTT | 1 | |
| 188025 | THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT | 1 | |
| 300367 | THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA; | 1 | |
| 274000 | THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR | 1 | |
| 188030 | THROMBOCYTOPENIC PURPURA, AUTOIMMUNE; AITP | 1 | |
| 188055 | THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE; THPH2 | 1 | |
| 613116 | THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY; THPH11 | 1 | |
| 176860 | THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT; THPH3 | 1 | |
| 612304 | THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE; THPH4 | 1 | |
| 612336 | THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT; THPH5 | 1 | |
| 614514 | THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE; THPH6 | 1 | |
| 188050 | THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1 | 4 | |
| 614486 | THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT; THPH12 | 1 | |
| 612348 | THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN | 1 | |
| 300807 | THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8 | 1 | |
| 274150 | THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL; TTP | 1 | |
| 274230 | THYMOMA, FAMILIAL | 1 | |
| 155240 | THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC | 2 | |
| 188470 | THYROID CARCINOMA, FOLLICULAR; FTC | 4 | |
| 607464 | THYROID CARCINOMA, HURTHLE CELL | 1 | |
| 606240 | THYROID CARCINOMA, NONMEDULLARY, SUSCEPTIBILITY TO, 1 | 1 | |
| 603386 | THYROID CARCINOMA, NONMEDULLARY, WITH OR WITHOUT CELL OXYPHILIA | 1 | |
| 188550 | THYROID CARCINOMA, PAPILLARY | 7 | |
| 605642 | THYROID CARCINOMA, PAPILLARY, WITH PAPILLARY RENAL NEOPLASIA | 1 | |
| 274400 | THYROID DYSHORMONOGENESIS 1; TDH1 | 1 | |
| 274500 | THYROID DYSHORMONOGENESIS 2A; TDH2A | 1 | |
| 274700 | THYROID DYSHORMONOGENESIS 3; TDH3 | 1 | |
| 274800 | THYROID DYSHORMONOGENESIS 4; TDH4 | 1 | |
| 274900 | THYROID DYSHORMONOGENESIS 5; TDH5 | 1 | |
| 607200 | THYROID DYSHORMONOGENESIS 6; TDH6 | 1 | |
| 609698 | THYROID HORMONE METABOLISM, ABNORMAL | 1 | |
| 188570 | THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; GRTH | 1 | |
| 274300 | THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; GRTH | 1 | |
| 145650 | THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY; PRTH | 1 | |
| 612306 | THYROID-STIMULATING HORMONE LEVEL QUANTITATIVE TRAIT LOCUS 1; TSHQTL1 | 1 | |
| 188580 | THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1; TTPP1 | 1 | |
| 613239 | THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2; TTPP2 | 1 | |
| 275120 | THYROTROPIN-RELEASING HORMONE DEFICIENCY | 1 | |
| 275220 | TIBIAL HEMIMELIA | 1 | |
| 600334 | TIBIAL MUSCULAR DYSTROPHY, TARDIVE | 1 | |
| 103500 | TIETZ SYNDROME | 1 | |
| 601005 | TIMOTHY SYNDROME; TS | 1 | |
| 300622 | TN POLYAGGLUTINATION SYNDROME; TNPS | 1 | |
| 188890 | TOBACCO ADDICTION, SUSCEPTIBILITY TO | 4 | |
| 300707 | TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS; | 1 | |
| 106600 | TOOTH AGENESIS, SELECTIVE, 1; STHAG1 | 1 | |
| 602639 | TOOTH AGENESIS, SELECTIVE, 2; STHAG2 | 1 | |
| 604625 | TOOTH AGENESIS, SELECTIVE, 3; STHAG3 | 1 | |
| 150400 | TOOTH AGENESIS, SELECTIVE, 4; STHAG4 | 1 | |
| 610926 | TOOTH AGENESIS, SELECTIVE, 5; STHAG5 | 1 | |
| 613097 | TOOTH AGENESIS, SELECTIVE, 6; STHAG6 | 1 | |
| 313500 | TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1 | 1 | |
| 314300 | TORTICOLLIS, KELOIDS, CRYPTORCHIDISM, AND RENAL DYSPLASIA; TKCR | 1 | |
| 106700 | TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1; TAPVR1 | 1 | |
| 107480 | TOWNES-BROCKS SYNDROME; TBS | 1 | |
| 606003 | TRANSALDOLASE DEFICIENCY | 1 | |
| 275350 | TRANSCOBALAMIN II DEFICIENCY | 1 | |
| 614193 | TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2; TFQTL2 | 1 | |
| 131705 | TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN; TBDN | 1 | |
| 227050 | TRANSIENT ERYTHROBLASTOPENIA OF CHILDHOOD; TEC | 1 | |
| 608808 | TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1; DTGA1 | 1 | |
| 613853 | TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 2; DTGA2 | 1 | |
| 613854 | TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 3; DTGA3 | 1 | |
| 154500 | TREACHER COLLINS SYNDROME 1; TCS1 | 1 | |
| 613717 | TREACHER COLLINS SYNDROME 2; TCS2 | 1 | |
| 248390 | TREACHER COLLINS SYNDROME 3; TCS3 | 1 | |
| 612119 | TREHALASE DEFICIENCY | 1 | |
| 190300 | TREMOR, HEREDITARY ESSENTIAL, 1; ETM1 | 1 | |
| 602134 | TREMOR, HEREDITARY ESSENTIAL, 2; ETM2 | 1 | |
| 611456 | TREMOR, HEREDITARY ESSENTIAL, 3; ETM3 | 1 | |
| 614782 | TREMOR, HEREDITARY ESSENTIAL, 4; ETM4 | 1 | |
| 609649 | TRICHILEMMAL CYST 1; TRICY1 | 1 | |
| 190320 | TRICHODENTOOSSEOUS SYNDROME; TDO | 1 | |
| 601606 | TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1 | 1 | |
| 612099 | TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 2 | 1 | |
| 222470 | TRICHOHEPATOENTERIC SYNDROME 1; THES1 | 1 | |
| 614602 | TRICHOHEPATOENTERIC SYNDROME 2; THES2 | 1 | |
| 190350 | TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1 | 1 | |
| 190351 | TRICHORHINOPHALANGEAL SYNDROME, TYPE III; TRPS3 | 1 | |
| 234050 | TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1 | 1 | |
| 601675 | TRICHOTHIODYSTROPHY, PHOTOSENSITIVE; TTDP | 3 | |
| 613229 | TRICHOTILLOMANIA; TTM | 1 | |
| 609015 | TRIFUNCTIONAL PROTEIN DEFICIENCY | 2 | |
| 190440 | TRIGONOCEPHALY 1; TRIGNO1 | 1 | |
| 614485 | TRIGONOCEPHALY 2; TRIGNO2 | 1 | |
| 602079 | TRIMETHYLAMINURIA; TMAU | 1 | |
| 615512 | TRIOSEPHOSPHATE ISOMERASE DEFICIENCY; TPID | 1 | |
| 190900 | TRITANOPIA | 1 | |
| 608189 | TROPICAL CALCIFIC PANCREATITIS | 1 | |
| 614044 | TRYPSINOGEN DEFICIENCY | 1 | |
| 613637 | TUBERCULIN SKIN TEST REACTIVITY QUANTITATIVE TRAIT LOCUS | 1 | |
| 613636 | TUBERCULIN SKIN TEST REACTIVITY, ABSENCE OF | 1 | |
| 191100 | TUBEROUS SCLEROSIS 1; TSC1 | 1 | |
| 613254 | TUBEROUS SCLEROSIS 2; TSC2 | 2 | |
| 609428 | TUKEL SYNDROME | 1 | |
| 614327 | TUMOR PREDISPOSITION SYNDROME; TPDS | 1 | |
| 603040 | TUMOR SUPPRESSOR GENE ON CHROMOSOME 11 | 1 | |
| 610455 | TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL; NFTC | 1 | |
| 276400 | TWINNING, DIZYGOTIC | 1 | |
| 148500 | TYLOSIS WITH ESOPHAGEAL CANCER; TOC | 1 | |
| 611521 | TYROSINE KINASE 2 DEFICIENCY | 1 | |
| 276700 | TYROSINEMIA, TYPE I | 1 | |
| 276600 | TYROSINEMIA, TYPE II | 1 | |
| 276710 | TYROSINEMIA, TYPE III | 1 | |
| 254090 | ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD | 3 | |
| 276820 | ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY | 1 | |
| 181450 | ULNAR-MAMMARY SYNDROME; UMS | 1 | |
| 138900 | URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1; UAQTL1 | 1 | |
| 612671 | URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4; UAQTL4 | 1 | |
| 614746 | URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 5; UAQTL5 | 1 | |
| 614747 | URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 6; UAQTL6 | 1 | |
| 266120 | URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA | 1 | |
| 276880 | UROCANASE DEFICIENCY | 1 | |
| 236730 | UROFACIAL SYNDROME 1; UFS1 | 1 | |
| 615112 | UROFACIAL SYNDROME 2; UFS2 | 1 | |
| 276900 | USHER SYNDROME, TYPE I; USH1 | 1 | |
| 276904 | USHER SYNDROME, TYPE IC; USH1C | 1 | |
| 601067 | USHER SYNDROME, TYPE ID; USH1D | 2 | |
| 602097 | USHER SYNDROME, TYPE IE; USH1E | 1 | |
| 602083 | USHER SYNDROME, TYPE IF; USH1F | 1 | |
| 606943 | USHER SYNDROME, TYPE IG; USH1G | 1 | |
| 612632 | USHER SYNDROME, TYPE IH; USH1H | 1 | |
| 276901 | USHER SYNDROME, TYPE IIA; USH2A | 2 | |
| 605472 | USHER SYNDROME, TYPE IIC; USH2C | 2 | |
| 611383 | USHER SYNDROME, TYPE IID; USH2D | 1 | |
| 276902 | USHER SYNDROME, TYPE IIIA; USH3A | 1 | |
| 614504 | USHER SYNDROME, TYPE IIIB; USH3B | 1 | |
| 614869 | USHER SYNDROME, TYPE IJ; USH1J | 1 | |
| 614990 | USHER SYNDROME, TYPE IK; USH1K | 1 | |
| 600630 | UV-SENSITIVE SYNDROME 1; UVSS1 | 1 | |
| 614621 | UV-SENSITIVE SYNDROME 2; UVSS2 | 1 | |
| 614640 | UV-SENSITIVE SYNDROME 3; UVSS3 | 1 | |
| 276950 | VACTERL ASSOCIATION WITH HYDROCEPHALUS | 1 | |
| 314390 | VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX | 2 | |
| 601846 | VACUOLAR NEUROMYOPATHY | 1 | |
| 607636 | VAN BUCHEM DISEASE, TYPE 2 | 1 | |
| 600920 | VAN DEN ENDE-GUPTA SYNDROME; VDEGS | 1 | |
| 604547 | VAN DER WOUDE SYNDROME 1, MODIFIER OF | 1 | |
| 119300 | VAN DER WOUDE SYNDROME 1; VWS1 | 1 | |
| 192200 | VARICOSE VEINS | 1 | |
| 277180 | VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD | 1 | |
| 192315 | VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL | 1 | |
| 192350 | VATER ASSOCIATION | 1 | |
| 192430 | VELOCARDIOFACIAL SYNDROME | 6 | |
| 600195 | VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL; VMCM | 1 | |
| 603829 | VENTRICULAR FIBRILLATION DURING MYOCARDIAL INFARCTION, SUSCEPTIBILITY | 1 | |
| 612956 | VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2; VF2 | 1 | |
| 614429 | VENTRICULAR SEPTAL DEFECT 1; VSD1 | 1 | |
| 614431 | VENTRICULAR SEPTAL DEFECT 2; VSD2 | 1 | |
| 614432 | VENTRICULAR SEPTAL DEFECT 3; VSD3 | 1 | |
| 604772 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR | 3 | |
| 611938 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2; CPVT2 | 1 | |
| 614021 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3; CPVT3 | 1 | |
| 614916 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4; CPVT4 | 1 | |
| 615441 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR | 1 | |
| 192605 | VENTRICULAR TACHYCARDIA, FAMILIAL | 1 | |
| 192950 | VERTICAL TALUS, CONGENITAL; CVT | 1 | |
| 613106 | VERTIGO, BENIGN RECURRENT, 2; BRV2 | 1 | |
| 193007 | VERTIGO, BENIGN RECURRENT; BRV | 1 | |
| 193000 | VESICOURETERAL REFLUX 1; VUR1 | 1 | |
| 610878 | VESICOURETERAL REFLUX 2; VUR2 | 1 | |
| 613674 | VESICOURETERAL REFLUX 3; VUR3 | 1 | |
| 614317 | VESICOURETERAL REFLUX 4; VUR4 | 1 | |
| 614318 | VESICOURETERAL REFLUX 5; VUR5 | 1 | |
| 614319 | VESICOURETERAL REFLUX 6; VUR6 | 1 | |
| 615390 | VESICOURETERAL REFLUX 7; VUR7 | 1 | |
| 242840 | VICI SYNDROME; VICIS | 1 | |
| 612542 | VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1; B12QTL1 | 1 | |
| 612957 | VITAMIN B6 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1; B6QTL1 | 1 | |
| 264700 | VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A; VDDR1A | 1 | |
| 600081 | VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B; VDDR1B | 1 | |
| 277440 | VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A | 1 | |
| 277460 | VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF; VED | 1 | |
| 277450 | VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1; VKCFD1 | 1 | |
| 607473 | VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2; VKCFD2 | 1 | |
| 606579 | VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1; | 1 | |
| 193200 | VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6; | 1 | |
| 193230 | VITREORETINAL DEGENERATION, SNOWFLAKE TYPE; SVD | 1 | |
| 193220 | VITREORETINOCHOROIDOPATHY; VRCP | 1 | |
| 193235 | VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY; VRNI | 1 | |
| 604117 | VOHWINKEL SYNDROME, VARIANT FORM | 1 | |
| 193300 | VON HIPPEL-LINDAU SYNDROME; VHL | 2 | |
| 193400 | VON WILLEBRAND DISEASE, TYPE 1; VWD1 | 1 | |
| 613554 | VON WILLEBRAND DISEASE, TYPE 2; VWD2 | 1 | |
| 277480 | VON WILLEBRAND DISEASE, TYPE 3; VWD3 | 1 | |
| 193500 | WAARDENBURG SYNDROME, TYPE 1; WS1 | 1 | |
| 193510 | WAARDENBURG SYNDROME, TYPE 2A; WS2A | 1 | |
| 600193 | WAARDENBURG SYNDROME, TYPE 2B; WS2B | 1 | |
| 606662 | WAARDENBURG SYNDROME, TYPE 2C; WS2C | 1 | |
| 608890 | WAARDENBURG SYNDROME, TYPE 2D; WS2D | 1 | |
| 611584 | WAARDENBURG SYNDROME, TYPE 2E; WS2E | 1 | |
| 148820 | WAARDENBURG SYNDROME, TYPE 3; WS3 | 1 | |
| 277580 | WAARDENBURG SYNDROME, TYPE 4A; WS4A | 1 | |
| 613265 | WAARDENBURG SYNDROME, TYPE 4B; WS4B | 1 | |
| 613266 | WAARDENBURG SYNDROME, TYPE 4C; WS4C | 1 | |
| 143200 | WAGNER VITREORETINOPATHY; WGVRP | 1 | |
| 600118 | WARBURG MICRO SYNDROME 1; WARBM1 | 1 | |
| 614225 | WARBURG MICRO SYNDROME 2; WARBM2 | 1 | |
| 614222 | WARBURG MICRO SYNDROME 3; WARBM3 | 1 | |
| 613398 | WARSAW BREAKAGE SYNDROME; WABS | 1 | |
| 193520 | WATSON SYNDROME | 1 | |
| 277590 | WEAVER SYNDROME; WVS | 1 | |
| 608710 | WEGENER GRANULOMATOSIS | 1 | |
| 277600 | WEILL-MARCHESANI SYNDROME 1; WMS1 | 1 | |
| 608328 | WEILL-MARCHESANI SYNDROME 2; WMS2 | 1 | |
| 614819 | WEILL-MARCHESANI SYNDROME 3; WMS3 | 1 | |
| 613195 | WEILL-MARCHESANI-LIKE SYNDROME | 1 | |
| 277610 | WEISSENBACHER-ZWEYMULLER SYNDROME; WZS | 1 | |
| 604454 | WELANDER DISTAL MYOPATHY; WDM | 1 | |
| 277700 | WERNER SYNDROME; WRN | 1 | |
| 610379 | WEST NILE VIRUS, SUSCEPTIBILITY TO | 1 | |
| 193530 | WEYERS ACROFACIAL DYSOSTOSIS | 1 | |
| 193670 | WHIM SYNDROME | 1 | |
| 611862 | WHITE BLOOD CELL COUNT QUANTITATIVE TRAIT LOCUS 1; WBCQ1 | 1 | |
| 193900 | WHITE SPONGE NEVUS; WSN | 2 | |
| 609757 | WILLIAMS-BEUREN REGION DUPLICATION SYNDROME | 1 | |
| 194050 | WILLIAMS-BEUREN SYNDROME; WBS | 2 | |
| 194070 | WILMS TUMOR 1; WT1 | 4 | |
| 194071 | WILMS TUMOR 2; WT2 | 1 | |
| 194090 | WILMS TUMOR 3; WT3 | 1 | |
| 601363 | WILMS TUMOR 4 | 1 | |
| 601583 | WILMS TUMOR 5; WT5 | 1 | |
| 194072 | WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION | 1 | |
| 612469 | WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, MENTAL RETARDATION, | 1 | |
| 277900 | WILSON DISEASE | 1 | |
| 309585 | WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS | 1 | |
| 614493 | WISKOTT-ALDRICH SYNDROME 2; WAS2 | 1 | |
| 301000 | WISKOTT-ALDRICH SYNDROME; WAS | 1 | |
| 189500 | WITKOP SYNDROME | 1 | |
| 300421 | WITTWER SYNDROME | 1 | |
| 194200 | WOLFF-PARKINSON-WHITE SYNDROME | 1 | |
| 222300 | WOLFRAM SYNDROME 1; WFS1 | 1 | |
| 604928 | WOLFRAM SYNDROME 2; WFS2 | 1 | |
| 614296 | WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT; WFSL | 1 | |
| 241080 | WOODHOUSE-SAKATI SYNDROME | 1 | |
| 194300 | WOOLLY HAIR, AUTOSOMAL DOMINANT; ADWH | 1 | |
| 278250 | WRINKLY SKIN SYNDROME; WSS | 1 | |
| 300087 | X INACTIVATION, FAMILIAL SKEWED, 1; SXI1 | 1 | |
| 300179 | X INACTIVATION, FAMILIAL SKEWED, 2; SXI2 | 1 | |
| 194370 | X-RAY SENSITIVITY; XRS | 1 | |
| 278300 | XANTHINURIA, TYPE I | 1 | |
| 278700 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA | 1 | |
| 610651 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB | 1 | |
| 278720 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC | 1 | |
| 278730 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD | 1 | |
| 278740 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E | 1 | |
| 278760 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF | 1 | |
| 278780 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG | 1 | |
| 278750 | XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV | 1 | |
| 610965 | XFE PROGEROID SYNDROME | 1 | |
| 314705 | XG REGULATOR; XGR | 1 | |
| 314900 | XM SYSTEM | 1 | |
| 112100 | YT BLOOD GROUP ANTIGEN | 1 | |
| 216340 | YUNIS-VARON SYNDROME; YVS | 1 | |
| 135500 | ZIMMERMANN-LABAND SYNDROME; ZLS | 1 | |
| 608118 | ZINC DEFICIENCY, TRANSIENT NEONATAL; TNZD | 1 | |
| 194470 | ZINC, ELEVATED PLASMA | 1 | |
| 609815 | ZYGODACTYLY 1 | 1 | |