Genetic disorders
Topic: Category
From Wikidoc - Reading time: 89 min
Complete List in Alphabetical Order[edit | edit source]
| MIM | Genetic disorder |
|---|---|
| 264300 | 17-BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY |
| 300438 | 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY |
| 222745 | 2,4-DIENOYL-CoA REDUCTASE 1 |
| 610006 | 2-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY |
| 204750 | 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA |
| 201810 | 3-BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF |
| 605911 | 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE 2 DEFICIENCY |
| 231530 | 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY |
| 236795 | 3-HYDROXYISOBUTYRIC ACIDURIA |
| 210200 | 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY |
| 210210 | 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY |
| 250950 | 3-METHYLGLUTACONIC ACIDURIA, TYPE I |
| 258501 | 3-METHYLGLUTACONIC ACIDURIA, TYPE III |
| 250951 | 3-METHYLGLUTACONIC ACIDURIA, TYPE IV |
| 610198 | 3-METHYLGLUTACONIC ACIDURIA, TYPE V |
| 614739 | 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME |
| 603005 | 3-PRIME-PHOSPHOADENOSINE 5-PRIME-PHOSPHOSULFATE SYNTHASE 2 |
| 257920 | 3MC SYNDROME 1 |
| 265050 | 3MC SYNDROME 2 |
| 248340 | 3MC SYNDROME 3 |
| 400045 | 46,XX GONADAL DYSGENESIS, COMPLETE, SRY-POSITIVE |
| 278850 | 46,XX GONADAL DYSGENESIS, PARTIAL OR COMPLETE, AUTOSOMAL |
| 300833 | 46,XX SEX REVERSAL 3 |
| 611812 | 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS |
| 233420 | 46,XY GONADAL DYSGENESIS, COMPLETE OR PARTIAL, DHH-RELATED |
| 154230 | 46,XY GONADAL DYSGENESIS, COMPLETE OR PARTIAL, WITH 9p24.3 DELETION |
| 612965 | 46,XY GONADAL DYSGENESIS, COMPLETE OR PARTIAL, WITH OR WITHOUT ADRENAL FAILURE |
| 613080 | 46,XY GONADAL DYSGENESIS, COMPLETE, CBX2-RELATED |
| 400044 | 46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED |
| 607080 | 46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY |
| 300018 | 46,XY SEX REVERSAL 2 |
| 613762 | 46,XY SEX REVERSAL 6 |
| 614279 | 46,XY SEX REVERSAL 8 |
| 260005 | 5-OXOPROLINASE DEFICIENCY |
| 311790 | 6-PHOSPHOFRUCTO-2-KINASE/FRUCTOSE-2,6-BISPHOSPHATASE 1 |
| 172150 | 6-PHOSPHOGLUCONOLACTONASE DEFICIENCY |
| 601982 | 8-OXOGUANINE DNA GLYCOSYLASE |
| 100050 | AARSKOG SYNDROME |
| 305400 | AARSKOG-SCOTT SYNDROME |
| 147800 | AASE-SMITH SYNDROME I |
| 600501 | ABCD SYNDROME |
| 100100 | ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND CRYPTORCHIDISM |
| 605552 | ABDOMINAL OBESITY-METABOLIC SYNDROME |
| 100200 | ABDUCENS PALSY |
| 189980 | ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1 |
| 200100 | ABETALIPOPROTEINEMIA |
| 300262 | ABIDI X-LINKED MENTAL RETARDATION SYNDROME |
| 200110 | ABLEPHARON-MACROSTOMIA SYNDROME |
| 302905 | ABRUZZO-ERICKSON SYNDROME |
| 200130 | ABSENT EYEBROWS AND EYELASHES WITH MENTAL RETARDATION |
| 100600 | ACANTHOSIS NIGRICANS |
| 200170 | ACANTHOSIS NIGRICANS WITH MUSCLE CRAMPS AND ACRAL ENLARGEMENT |
| 614097 | ACATALASEMIA |
| 604290 | ACERULOPLASMINEMIA |
| 100675 | ACETAMINOPHEN METABOLISM |
| 200300 | ACETOPHENETIDIN SENSITIVITY |
| 614055 | ACETYL-CoA ACETYLTRANSFERASE-2 DEFICIENCY |
| 613933 | ACETYL-CoA CARBOXYLASE DEFICIENCY |
| 200400 | ACHALASIA, FAMILIAL ESOPHAGEAL |
| 231550 | ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME |
| 200450 | ACHALASIA-MICROCEPHALY SYNDROME |
| 100700 | ACHARD SYNDROME |
| 200500 | ACHEIROPODY |
| 200600 | ACHONDROGENESIS, TYPE IA |
| 600972 | ACHONDROGENESIS, TYPE IB |
| 200610 | ACHONDROGENESIS, TYPE II |
| 100800 | ACHONDROPLASIA |
| 200900 | ACHONDROPLASIA, SO-CALLED, AND SEVERE COMBINED IMMUNODEFICIENCY |
| 100820 | ACHOO SYNDROME |
| 216900 | ACHROMATOPSIA 2 |
| 262300 | ACHROMATOPSIA 3 |
| 613856 | ACHROMATOPSIA 4 |
| 200950 | ACID PHOSPHATASE DEFICIENCY |
| 200970 | ACKERMAN SYNDROME |
| 142690 | ACNE INVERSA, FAMILIAL, 1 |
| 613736 | ACNE INVERSA, FAMILIAL, 2 |
| 613737 | ACNE INVERSA, FAMILIAL, 3 |
| 200990 | ACROCALLOSAL SYNDROME |
| 607778 | ACROCAPITOFEMORAL DYSPLASIA |
| 200995 | ACROCEPHALOPOLYDACTYLOUS DYSPLASIA |
| 101120 | ACROCEPHALOPOLYSYNDACTYLY TYPE III |
| 201020 | ACROCEPHALOPOLYSYNDACTYLY TYPE IV |
| 201050 | ACROCRANIOFACIAL DYSOSTOSIS |
| 201100 | ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE |
| 101800 | ACRODYSOSTOSIS |
| 614613 | ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE |
| 154400 | ACROFACIAL DYSOSTOSIS 1, NAGER TYPE |
| 201170 | ACROFACIAL DYSOSTOSIS SYNDROME OF RODRIGUEZ |
| 101805 | ACROFACIAL DYSOSTOSIS, CATANIA TYPE |
| 601829 | ACROFACIAL DYSOSTOSIS, PALAGONIA TYPE |
| 201180 | ACROFRONTOFACIONASAL DYSOSTOSIS 1 |
| 239710 | ACROFRONTOFACIONASAL DYSOSTOSIS 2 |
| 201200 | ACROGERIA, GOTTRON TYPE |
| 101840 | ACROKERATODERMA, HEREDITARY PAPULOTRANSLUCENT |
| 101850 | ACROKERATOELASTOIDOSIS |
| 101900 | ACROKERATOSIS VERRUCIFORMIS |
| 102000 | ACROLEUKOPATHY, SYMMETRIC |
| 102100 | ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA |
| 102150 | ACROMEGALOID FACIAL APPEARANCE SYNDROME |
| 603671 | ACROMELIC FRONTONASAL DYSOSTOSIS |
| 201250 | ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE |
| 602875 | ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE |
| 102350 | ACROMIAL DIMPLES |
| 102370 | ACROMICRIC DYSPLASIA |
| 102400 | ACROOSTEOLYSIS |
| 605967 | ACROPECTORAL SYNDROME |
| 102510 | ACROPECTOROVERTEBRAL DYSPLASIA |
| 102520 | ACRORENAL SYNDROME |
| 201310 | ACRORENAL SYNDROME, AUTOSOMAL RECESSIVE |
| 200980 | ACRORENAL-MANDIBULAR SYNDROME |
| 201400 | ACTH DEFICIENCY |
| 219080 | ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA |
| 174770 | ACTINIC PRURIGO |
| 615513 | ACTIVATED PI3K-DELTA SYNDROME |
| 602439 | ACUTE MYELOGENOUS LEUKEMIA |
| 612376 | ACUTE PROMYELOCYTIC LEUKEMIA |
| 611126 | ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF |
| 201460 | ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF |
| 201450 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF |
| 201470 | ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF |
| 201475 | ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF |
| 102650 | ADACTYLIA, UNILATERAL |
| 102660 | ADAMANTINOMA OF LONG BONES |
| 100300 | ADAMS-OLIVER SYNDROME |
| 614219 | ADAMS-OLIVER SYNDROME 2 |
| 614814 | ADAMS-OLIVER SYNDROME 3 |
| 615297 | ADAMS-OLIVER SYNDROME 4 |
| 601776 | ADDUCTED THUMB-CLUBFOOT SYNDROME |
| 201550 | ADDUCTED THUMBS SYNDROME |
| 102600 | ADENINE PHOSPHORIBOSYLTRANSFERASE |
| 614723 | ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY |
| 175100 | ADENOMATOUS POLYPOSIS OF THE COLON |
| 600458 | ADENOMYOSIS |
| 102730 | ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO |
| 102770 | ADENOSINE MONOPHOSPHATE DEAMINASE 1 |
| 102800 | ADENOSINE TRIPHOSPHATASE DEFICIENCY, ANEMIA DUE TO |
| 102900 | ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES |
| 612631 | ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO |
| 103050 | ADENYLOSUCCINASE DEFICIENCY |
| 136000 | ADERMATOGLYPHIA |
| 129200 | ADERMATOGLYPHIA WITH CONGENITAL FACIAL MILIA AND ACRAL BLISTERS, DIGITAL CONTRACTURES, AND NAIL ABNORMALITIES |
| 103100 | ADIE PUPIL |
| 103200 | ADIPOSIS DOLOROSA |
| 202110 | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY |
| 202010 | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY |
| 300200 | ADRENAL HYPOPLASIA, CONGENITAL |
| 202150 | ADRENAL HYPOPLASIA, CONGENITAL, WITH ABSENT PITUITARY LUTEINIZING HORMONE |
| 202155 | ADRENAL HYPOPLASIA, CYTOMEGALIC TYPE |
| 613743 | ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE |
| 300250 | ADRENAL UNRESPONSIVENESS TO ACTH |
| 202300 | ADRENOCORTICAL CARCINOMA, HEREDITARY |
| 103230 | ADRENOCORTICAL HYPOFUNCTION, CHRONIC PRIMARY CONGENITAL |
| 202355 | ADRENOCORTICAL UNRESPONSIVENESS TO ACTH WITH POSTRECEPTOR DEFECT |
| 300100 | ADRENOLEUKODYSTROPHY |
| 202370 | ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM |
| 300270 | ADRENOMYODYSTROPHY |
| 103285 | ADULT SYNDROME |
| 604348 | ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1 |
| 615224 | ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2 |
| 202400 | AFIBRINOGENEMIA, CONGENITAL |
| 601495 | AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE |
| 613500 | AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE |
| 613501 | AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE |
| 613502 | AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE |
| 613506 | AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT |
| 612692 | AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE |
| 615214 | AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE |
| 610483 | AGAMMAGLOBULINEMIA, MICROCEPHALY, AND SEVERE DERMATITIS |
| 300755 | AGAMMAGLOBULINEMIA, X-LINKED |
| 300310 | AGAMMAGLOBULINEMIA, X-LINKED, TYPE 2 |
| 202550 | AGANGLIONOSIS, TOTAL INTESTINAL |
| 612448 | AGE-RELATED HEARING IMPAIRMENT 1 |
| 612976 | AGE-RELATED HEARING IMPAIRMENT 2 |
| 202600 | AGENESIS OF CEREBRAL WHITE MATTER |
| 613623 | AGENESIS OF THE CORPUS CALLOSUM AND CONGENITAL LYMPHEDEMA |
| 218000 | AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY |
| 103300 | AGLOSSIA-ADACTYLIA |
| 202650 | AGNATHIA-OTOCEPHALY COMPLEX |
| 202660 | AGONADISM WITH MULTIPLE INTERNAL MALFORMATIONS |
| 600908 | AGONADISM, 46,XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDED BONE AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS |
| 608688 | AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY |
| 304050 | AICARDI SYNDROME |
| 225750 | AICARDI-GOUTIERES SYNDROME 1 |
| 610181 | AICARDI-GOUTIERES SYNDROME 2 |
| 610329 | AICARDI-GOUTIERES SYNDROME 3 |
| 610333 | AICARDI-GOUTIERES SYNDROME 4 |
| 612952 | AICARDI-GOUTIERES SYNDROME 5 |
| 615010 | AICARDI-GOUTIERES SYNDROME 6 |
| 103400 | AINHUM |
| 609465 | AL-GAZALI SYNDROME |
| 601549 | ALACRIMA |
| 615510 | ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME |
| 103420 | ALACRIMA, CONGENITAL |
| 118450 | ALAGILLE SYNDROME 1 |
| 610205 | ALAGILLE SYNDROME 2 |
| 300600 | ALAND ISLAND EYE DISEASE |
| 202900 | ALANINURIA WITH MICROCEPHALY, DWARFISM, ENAMEL HYPOPLASIA, AND DIABETES MELLITUS |
| 615071 | ALAZAMI SYNDROME |
| 300500 | ALBINISM, OCULAR, TYPE I |
| 300650 | ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS |
| 103470 | ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS |
| 203100 | ALBINISM, OCULOCUTANEOUS, TYPE IA |
| 606952 | ALBINISM, OCULOCUTANEOUS, TYPE IB |
| 203200 | ALBINISM, OCULOCUTANEOUS, TYPE II |
| 203290 | ALBINISM, OCULOCUTANEOUS, TYPE III |
| 606574 | ALBINISM, OCULOCUTANEOUS, TYPE IV |
| 615179 | ALBINISM, OCULOCUTANEOUS, TYPE V |
| 615312 | ALBINISM, OCULOCUTANEOUS, TYPE V |
| 278400 | ALBINISM, RUFOUS OCULOCUTANEOUS |
| 300700 | ALBINISM-DEAFNESS SYNDROME |
| 203340 | ALBINISM-MICROCEPHALY-DIGITAL ANOMALIES SYNDROME |
| 103780 | ALCOHOL DEPENDENCE |
| 610251 | ALCOHOL SENSITIVITY, ACUTE |
| 100640 | ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER A1 |
| 100650 | ALDEHYDE DEHYDROGENASE 2 FAMILY |
| 611881 | ALDOLASE A DEFICIENCY |
| 203450 | ALEXANDER DISEASE |
| 171720 | ALKALINE PHOSPHATASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 |
| 203500 | ALKAPTONURIA |
| 300523 | ALLAN-HERNDON-DUDLEY SYNDROME |
| 103920 | ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS |
| 607154 | ALLERGIC RHINITIS |
| 104000 | ALOPECIA AREATA 1 |
| 104100 | ALOPECIA CONGENITA WITH KERATOSIS PALMOPLANTARIS |
| 203655 | ALOPECIA UNIVERSALIS CONGENITA |
| 608509 | ALOPECIA UNIVERSALIS CONGENITA, XY GONADAL DYSGENESIS, AND LARYNGOMALACIA |
| 109200 | ALOPECIA, ANDROGENETIC, 1 |
| 300710 | ALOPECIA, ANDROGENETIC, 2 |
| 612421 | ALOPECIA, ANDROGENETIC, 3 |
| 300042 | ALOPECIA, CONGENITAL |
| 104110 | ALOPECIA, FAMILIAL FOCAL |
| 612079 | ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME |
| 104130 | ALOPECIA, PSYCHOMOTOR EPILEPSY, PYORRHEA, AND MENTAL SUBNORMALITY |
| 203550 | ALOPECIA-CONTRACTURES-DWARFISM MENTAL RETARDATION SYNDROME |
| 203600 | ALOPECIA-EPILEPSY-OLIGOPHRENIA SYNDROME OF MOYNAHAN |
| 203650 | ALOPECIA-MENTAL RETARDATION SYNDROME 1 |
| 610422 | ALOPECIA-MENTAL RETARDATION SYNDROME 2 |
| 613930 | ALOPECIA-MENTAL RETARDATION SYNDROME 3 |
| 601217 | ALOPECIA-MENTAL RETARDATION SYNDROME WITH CONVULSIONS AND HYPERGONADOTROPIC HYPOGONADISM |
| 203700 | ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS |
| 613490 | ALPHA-1-ANTITRYPSIN DEFICIENCY |
| 203760 | ALPHA-2-DEFICIENT COLLAGEN DISEASE |
| 103950 | ALPHA-2-MACROGLOBULIN |
| 614036 | ALPHA-2-MACROGLOBULIN DEFICIENCY |
| 262850 | ALPHA-2-PLASMIN INHIBITOR DEFICIENCY |
| 104150 | ALPHA-FETOPROTEIN |
| 203740 | ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY |
| 203750 | ALPHA-METHYLACETOACETIC ACIDURIA |
| 614307 | ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY |
| 604131 | ALPHA-THALASSEMIA |
| 300448 | ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME |
| 141750 | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED |
| 301040 | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED |
| 609889 | ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY |
| 104200 | ALPORT SYNDROME, AUTOSOMAL DOMINANT |
| 203780 | ALPORT SYNDROME, AUTOSOMAL RECESSIVE |
| 301050 | ALPORT SYNDROME, X-LINKED |
| 203800 | ALSTROM SYNDROME |
| 104290 | ALTERNATING HEMIPLEGIA OF CHILDHOOD |
| 614820 | ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 |
| 265380 | ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS |
| 606243 | ALVEOLAR SOFT PART SARCOMA |
| 104300 | ALZHEIMER DISEASE |
| 609636 | ALZHEIMER DISEASE 10 |
| 104310 | ALZHEIMER DISEASE 2 |
| 607822 | ALZHEIMER DISEASE 3 |
| 606889 | ALZHEIMER DISEASE 4 |
| 602096 | ALZHEIMER DISEASE 5 |
| 605055 | ALZHEIMER DISEASE, FAMILIAL EARLY-ONSET, WITH COEXISTING AMYLOID AND PRION PATHOLOGY |
| 502500 | ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL |
| 104350 | AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM |
| 204110 | AMAUROSIS CONGENITA, CONE-ROD TYPE, WITH CONGENITAL HYPERTRICHOSIS |
| 604498 | AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL |
| 104400 | AMELIA AND TERMINAL TRANSVERSE HEMIMELIA |
| 601360 | AMELIA, AUTOSOMAL RECESSIVE |
| 614253 | AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME |
| 204700 | AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA1 |
| 612529 | AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2 |
| 613211 | AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3 |
| 614832 | AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4 |
| 104530 | AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE |
| 301200 | AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1 |
| 301201 | AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 2 |
| 104500 | AMELOGENESIS IMPERFECTA, TYPE IB |
| 204650 | AMELOGENESIS IMPERFECTA, TYPE IC |
| 130900 | AMELOGENESIS IMPERFECTA, TYPE III |
| 104510 | AMELOGENESIS IMPERFECTA, TYPE IV |
| 410000 | AMELOGENIN, Y-CHROMOSOMAL |
| 104570 | AMELOONYCHOHYPOHIDROTIC SYNDROME |
| 104600 | AMENORRHEA-GALACTORRHEA SYNDROME |
| 204730 | AMINO ACIDURIA WITH MENTAL DEFICIENCY, DWARFISM, MUSCULAR DYSTROPHY, OSTEOPOROSIS, AND ACIDOSIS |
| 609924 | AMINOACYLASE 1 DEFICIENCY |
| 600325 | AMINOPTERIN SYNDROME SINE AMINOPTERIN |
| 609056 | AMISH INFANTILE EPILEPSY SYNDROME |
| 300194 | AMME COMPLEX |
| 204800 | AMOBARBITAL, DEFICIENT N-HYDROXYLATION OF |
| 204850 | AMYLOIDOSIS OF GINGIVA AND CONJUNCTIVA, WITH MENTAL RETARDATION |
| 105210 | AMYLOIDOSIS VII |
| 204900 | AMYLOIDOSIS, CUTANEOUS BULLOUS |
| 105200 | AMYLOIDOSIS, FAMILIAL VISCERAL |
| 105120 | AMYLOIDOSIS, FINNISH TYPE |
| 105250 | AMYLOIDOSIS, PRIMARY CUTANEOUS |
| 613955 | AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2 |
| 205000 | AMYOTONIA CONGENITA |
| 105300 | AMYOTROPHIC DYSTONIC PARAPLEGIA |
| 105400 | AMYOTROPHIC LATERAL SCLEROSIS 1 |
| 612069 | AMYOTROPHIC LATERAL SCLEROSIS 10 |
| 612577 | AMYOTROPHIC LATERAL SCLEROSIS 11 |
| 613435 | AMYOTROPHIC LATERAL SCLEROSIS 12 |
| 613954 | AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA |
| 300857 | AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA |
| 614373 | AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE |
| 614696 | AMYOTROPHIC LATERAL SCLEROSIS 17 |
| 614808 | AMYOTROPHIC LATERAL SCLEROSIS 18 |
| 615515 | AMYOTROPHIC LATERAL SCLEROSIS 19 |
| 205100 | AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE |
| 615426 | AMYOTROPHIC LATERAL SCLEROSIS 20 |
| 606070 | AMYOTROPHIC LATERAL SCLEROSIS 21 |
| 602433 | AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE |
| 602099 | AMYOTROPHIC LATERAL SCLEROSIS 5 |
| 608030 | AMYOTROPHIC LATERAL SCLEROSIS 6 |
| 608627 | AMYOTROPHIC LATERAL SCLEROSIS 8 |
| 611895 | AMYOTROPHIC LATERAL SCLEROSIS 9 |
| 105550 | AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1 |
| 205250 | AMYOTROPHIC LATERAL SCLEROSIS WITH POLYGLUCOSAN BODIES |
| 205200 | AMYOTROPHIC LATERAL SCLEROSIS, JUVENILE, WITH DEMENTIA |
| 105500 | AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 |
| 162100 | AMYOTROPHY, HEREDITARY NEURALGIC |
| 602440 | AMYOTROPHY, MONOMELIC |
| 181405 | AMYOTROPHY, NEUROGENIC SCAPULOPERONEAL, NEW ENGLAND TYPE |
| 602553 | ANAL ATRESIA, HYPOSPADIAS, AND PENOSCROTAL INVERSION |
| 105580 | ANAL CANAL CARCINOMA |
| 105563 | ANAL SPHINCTER DYSPLASIA |
| 105565 | ANAL SPHINCTER MYOPATHY, INTERNAL |
| 607095 | ANAUXETIC DYSPLASIA |
| 170390 | ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS |
| 300068 | ANDROGEN INSENSITIVITY SYNDROME |
| 312300 | ANDROGEN INSENSITIVITY, PARTIAL |
| 105570 | ANDROSTENONE, ABILITY TO SMELL |
| 205700 | ANEMIA, AUTOIMMUNE HEMOLYTIC |
| 224120 | ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia |
| 615631 | ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib |
| 224100 | ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II |
| 613673 | ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IV |
| 105600 | ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE III |
| 206100 | ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD |
| 615234 | ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2 |
| 206300 | ANEMIA, NONSPHEROCYTIC HEMOLYTIC, ASSOCIATED WITH ABNORMALITY OF RED CELL MEMBRANE |
| 300908 | ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY |
| 206400 | ANEMIA, NONSPHEROCYTIC HEMOLYTIC, POSSIBLY DUE TO DEFECT IN PORPHYRIN METABOLISM |
| 301310 | ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA |
| 182170 | ANEMIA, SIDEROBLASTIC, AUTOSOMAL DOMINANT |
| 205950 | ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE |
| 206000 | ANEMIA, SIDEROBLASTIC, PYRIDOXINE-RESPONSIVE, AUTOSOMAL RECESSIVE |
| 300751 | ANEMIA, SIDEROBLASTIC, X-LINKED |
| 300835 | ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES |
| 206500 | ANENCEPHALY |
| 105805 | ANEURYSM OF INTERVENTRICULAR SEPTUM |
| 105800 | ANEURYSM, INTRACRANIAL BERRY, 1 |
| 105835 | ANGEL-SHAPED PHALANGOEPIPHYSEAL DYSPLASIA |
| 105830 | ANGELMAN SYNDROME |
| 300909 | ANGIOEDEMA INDUCED BY ACE INHIBITORS, SUSCEPTIBILITY TO |
| 106100 | ANGIOEDEMA, HEREDITARY |
| 610618 | ANGIOEDEMA, HEREDITARY, TYPE III |
| 607140 | ANGIOID STREAKS |
| 600419 | ANGIOKERATOMA CORPORIS DIFFUSUM WITH ARTERIOVENOUS FISTULAS |
| 206550 | ANGIOLIPOMATOSIS, FAMILIAL |
| 106050 | ANGIOMA SERPIGINOSUM, AUTOSOMAL DOMINANT |
| 300652 | ANGIOMA SERPIGINOSUM, X-LINKED |
| 106070 | ANGIOMA, HEREDITARY NEUROCUTANEOUS |
| 607859 | ANGIOMA, TUFTED |
| 206570 | ANGIOMATOSIS, DIFFUSE CORTICOMENINGEAL, OF DIVRY AND VAN BOGAERT |
| 611773 | ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS |
| 206600 | ANHIDROSIS |
| 106190 | ANHIDROSIS, FAMILIAL GENERALIZED, WITH NORMAL SWEAT GLANDS |
| 106210 | ANIRIDIA |
| 106220 | ANIRIDIA AND ABSENT PATELLA |
| 206700 | ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL DEFICIENCY |
| 106230 | ANIRIDIA, MICROCORNEA, AND SPONTANEOUSLY REABSORBED CATARACT |
| 206750 | ANIRIDIA, PARTIAL, WITH UNILATERAL RENAL AGENESIS AND PSYCHOMOTOR RETARDATION |
| 106240 | ANISOCORIA |
| 106250 | ANKYLOBLEPHARON FILIFORME ADNATUM AND CLEFT PALATE |
| 106260 | ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE |
| 106280 | ANKYLOGLOSSIA |
| 106400 | ANKYLOSING VERTEBRAL HYPEROSTOSIS WITH TYLOSIS |
| 602396 | ANNEXIN A8 |
| 106500 | ANNULAR ERYTHEMA |
| 206780 | ANODONTIA OF PERMANENT DENTITION |
| 206800 | ANONYCHIA CONGENITA |
| 106750 | ANONYCHIA WITH FLEXURAL PIGMENTATION |
| 607214 | ANONYCHIA, TOTAL, WITH MICROCEPHALY |
| 106900 | ANONYCHIA-ECTRODACTYLY |
| 107000 | ANONYCHIA-ONYCHODYSTROPHY |
| 106990 | ANONYCHIA-ONYCHODYSTROPHY WITH BRACHYDACTYLY TYPE B AND ECTRODACTYLY |
| 106995 | ANONYCHIA-ONYCHODYSTROPHY WITH HYPOPLASIA OR ABSENCE OF DISTAL PHALANGES |
| 107100 | ANORECTAL ANOMALIES |
| 301700 | ANOSMIA |
| 207000 | ANOSMIA FOR ISOBUTYRIC ACID |
| 107200 | ANOSMIA, CONGENITAL |
| 601427 | ANTERIOR CHAMBER CLEAVAGE DISORDER, CEREBELLAR HYPOPLASIA, HYPOTHYROIDISM, AND TRACHEAL STENOSIS |
| 107250 | ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS |
| 107320 | ANTIPHOSPHOLIPID SYNDROME, FAMILIAL |
| 613118 | ANTITHROMBIN III DEFICIENCY |
| 207300 | ANTITHROMBIN, FAMILIAL HEMORRHAGIC DIATHESIS DUE TO |
| 201750 | ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS |
| 207410 | ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS |
| 207500 | ANUS, IMPERFORATE |
| 301800 | ANUS, IMPERFORATE |
| 100070 | AORTIC ANEURYSM, ABDOMINAL |
| 607086 | AORTIC ANEURYSM, FAMILIAL THORACIC 1 |
| 132900 | AORTIC ANEURYSM, FAMILIAL THORACIC 4 |
| 611788 | AORTIC ANEURYSM, FAMILIAL THORACIC 6 |
| 613780 | AORTIC ANEURYSM, FAMILIAL THORACIC 7 |
| 615436 | AORTIC ANEURYSM, FAMILIAL THORACIC 8 |
| 107500 | AORTIC ARCH ANOMALY WITH PECULIAR FACIES AND MENTAL RETARDATION |
| 107550 | AORTIC ARCH INTERRUPTION, FACIAL PALSY, AND RETINAL COLOBOMA |
| 109730 | AORTIC VALVE DISEASE |
| 614823 | AORTIC VALVE DISEASE 2 |
| 611731 | APC GENE |
| 101200 | APERT SYNDROME |
| 610256 | APHAKIA, CONGENITAL PRIMARY |
| 600384 | APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSAL IV |
| 207620 | APHALANGY WITH HEMIVERTEBRAE |
| 600360 | APLASIA CUTIS CONGENITA OF LIMBS, RECESSIVE |
| 600268 | APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS |
| 207731 | APLASIA CUTIS CONGENITA WITH INTESTINAL LYMPHANGIECTASIA |
| 601075 | APLASIA CUTIS CONGENITA, HIGH MYOPIA, AND CONE-ROD DYSFUNCTION |
| 107600 | APLASIA CUTIS CONGENITA, NONSYNDROMIC |
| 300887 | APLASIA CUTIS CONGENITA, RETICULOLINEAR, WITH MICROCEPHALY, FACIAL DYSMORPHISM, AND OTHER CONGENITAL ANOMALIES |
| 207740 | APLASIA OF EXTENSOR MUSCLES OF FINGERS, UNILATERAL, WITH GENERALIZED POLYNEUROPATHY |
| 180920 | APLASIA OF LACRIMAL AND SALIVARY GLANDS |
| 609135 | APLASTIC ANEMIA |
| 107640 | APNEA, CENTRAL SLEEP |
| 207720 | APNEA, CENTRAL SLEEP |
| 107650 | APNEA, OBSTRUCTIVE SLEEP |
| 117800 | APOCRINE GLAND SECRETION, VARIATION IN |
| 107680 | APOLIPOPROTEIN A-I |
| 107690 | APOLIPOPROTEIN A-IV |
| 107730 | APOLIPOPROTEIN B |
| 207750 | APOLIPOPROTEIN C-II DEFICIENCY |
| 107741 | APOLIPOPROTEIN E |
| 152200 | APOLIPOPROTEIN(a) |
| 218030 | APPARENT MINERALOCORTICOID EXCESS |
| 107700 | APPENDICITIS, PRONENESS TO |
| 601374 | APROSENCEPHALY AND CEREBELLAR DYSGENESIS |
| 207770 | APROSENCEPHALY SYNDROME |
| 207790 | ARACHNOID CYSTS, INTRACRANIAL |
| 107800 | ARCUS CORNEAE |
| 207780 | AREDYLD |
| 612718 | ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY |
| 207800 | ARGININEMIA |
| 207900 | ARGININOSUCCINIC ACIDURIA |
| 603457 | ARHINIA, CHOANAL ATRESIA, AND MICROPHTHALMIA |
| 243910 | ARIMA SYNDROME |
| 300382 | ARISTALESS-RELATED HOMEOBOX, X-LINKED |
| 107850 | ARM FOLDING PREFERENCE |
| 300261 | ARMFIELD X-LINKED MENTAL RETARDATION SYNDROME |
| 107900 | ARMS, MALFORMATION OF |
| 613546 | AROMATASE DEFICIENCY |
| 139300 | AROMATASE EXCESS SYNDROME |
| 608643 | AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY |
| 107970 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1 |
| 610193 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 |
| 610476 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 |
| 611528 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 |
| 615616 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13 |
| 600996 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 |
| 602086 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 3 |
| 602087 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 4 |
| 604400 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 |
| 604401 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 6 |
| 607450 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 |
| 609040 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 |
| 208000 | ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY |
| 614473 | ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 |
| 600459 | ARTERIAL DISSECTION WITH LENTIGINOSIS |
| 602531 | ARTERIAL OCCLUSIVE DISEASE, PROGRESSIVE, WITH HYPERTENSION, HEART DEFECTS, BONE FRAGILITY, AND BRACHYSYNDACTYLY |
| 208050 | ARTERIAL TORTUOSITY SYNDROME |
| 108000 | ARTERIES, ANOMALIES OF |
| 208060 | ARTERIOSCLEROSIS, SEVERE JUVENILE |
| 108010 | ARTERIOVENOUS MALFORMATIONS OF THE BRAIN |
| 108050 | ARTERITIS, FAMILIAL GRANULOMATOUS, WITH JUVENILE POLYARTHRITIS |
| 108100 | ARTHRITIS, SACROILIAC |
| 601701 | ARTHROGRYPOSIS AND ECTODERMAL DYSPLASIA |
| 108110 | ARTHROGRYPOSIS MULTIPLEX CONGENITA |
| 208155 | ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH WHISTLING FACE |
| 208100 | ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE |
| 208158 | ARTHROGRYPOSIS WITH HYPERKERATOSIS |
| 300158 | ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED |
| 108120 | ARTHROGRYPOSIS, DISTAL, TYPE 1 |
| 187370 | ARTHROGRYPOSIS, DISTAL, TYPE 10 |
| 614335 | ARTHROGRYPOSIS, DISTAL, TYPE 1B |
| 193700 | ARTHROGRYPOSIS, DISTAL, TYPE 2A |
| 601680 | ARTHROGRYPOSIS, DISTAL, TYPE 2B |
| 121070 | ARTHROGRYPOSIS, DISTAL, TYPE 2E |
| 114300 | ARTHROGRYPOSIS, DISTAL, TYPE 3 |
| 108145 | ARTHROGRYPOSIS, DISTAL, TYPE 5 |
| 615065 | ARTHROGRYPOSIS, DISTAL, TYPE 5D |
| 158300 | ARTHROGRYPOSIS, DISTAL, TYPE 7 |
| 178110 | ARTHROGRYPOSIS, DISTAL, TYPE 8 |
| 121050 | ARTHROGRYPOSIS, DISTAL, TYPE 9 |
| 208080 | ARTHROGRYPOSIS, DISTAL, WITH HYPOPITUITARISM, MENTAL RETARDATION, AND FACIAL ANOMALIES |
| 208081 | ARTHROGRYPOSIS, DISTAL, WITH MENTAL RETARDATION AND CHARACTERISTIC FACIES |
| 301815 | ARTHROGRYPOSIS, ECTODERMAL DYSPLASIA, CLEFT LIP/PALATE, AND DEVELOPMENTAL DELAY |
| 615553 | ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES |
| 614262 | ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY |
| 208085 | ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 |
| 613404 | ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 |
| 208200 | ARTHROGRYPOSIS-LIKE DISORDER |
| 108200 | ARTHROGRYPOSIS-LIKE HAND ANOMALY AND SENSORINEURAL DEAFNESS |
| 208230 | ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD |
| 108320 | ARTICHOKE, MODIFICATION OF TASTE BY |
| 301835 | ARTS SYNDROME |
| 208300 | ASCITES, CHYLOUS |
| 108370 | ASPARAGINE SYNTHETASE |
| 615574 | ASPARAGINE SYNTHETASE DEFICIENCY |
| 108390 | ASPARAGUS, SPECIFIC SMELL HYPERSENSITIVITY |
| 208400 | ASPARTYLGLUCOSAMINURIA |
| 608638 | ASPERGER SYNDROME, SUSCEPTIBILITY TO, 1 |
| 608631 | ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2 |
| 300494 | ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1 |
| 300497 | ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2 |
| 208500 | ASPHYXIATING THORACIC DYSTROPHY 1 |
| 611263 | ASPHYXIATING THORACIC DYSTROPHY 2 |
| 613091 | ASPHYXIATING THORACIC DYSTROPHY 3 |
| 613819 | ASPHYXIATING THORACIC DYSTROPHY 4 |
| 614376 | ASPHYXIATING THORACIC DYSTROPHY 5 |
| 208530 | ASPLENIA WITH CARDIOVASCULAR ANOMALIES |
| 271400 | ASPLENIA, ISOLATED CONGENITAL |
| 208550 | ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE |
| 208600 | ASTHMA, SHORT STATURE, AND ELEVATED IgA |
| 600807 | ASTHMA, SUSCEPTIBILITY TO |
| 108450 | ASYMMETRIC SHORT STATURE SYNDROME |
| 108700 | ATAXIA WITH FASCICULATIONS |
| 208700 | ATAXIA WITH MYOCLONIC EPILEPSY AND PRESENILE DEMENTIA |
| 208750 | ATAXIA, DEAFNESS, AND CARDIOMYOPATHY |
| 208920 | ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA |
| 608984 | ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT |
| 108600 | ATAXIA, SPASTIC, 1, AUTOSOMAL DOMINANT |
| 611302 | ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE |
| 611390 | ATAXIA, SPASTIC, 3, AUTOSOMAL RECESSIVE |
| 613672 | ATAXIA, SPASTIC, 4, AUTOSOMAL RECESSIVE |
| 270500 | ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION |
| 108650 | ATAXIA, SPASTIC, WITH CONGENITAL MIOSIS |
| 208850 | ATAXIA-DEAFNESS-RETARDATION SYNDROME |
| 208870 | ATAXIA-MICROCEPHALY-CATARACT SYNDROME |
| 615217 | ATAXIA-OCULOMOTOR APRAXIA 3 |
| 208900 | ATAXIA-TELANGIECTASIA |
| 208910 | ATAXIA-TELANGIECTASIA WITH GENERALIZED SKIN PIGMENTATION AND EARLY DEATH |
| 604391 | ATAXIA-TELANGIECTASIA-LIKE DISORDER |
| 108720 | ATELOSTEOGENESIS, TYPE I |
| 256050 | ATELOSTEOGENESIS, TYPE II |
| 108721 | ATELOSTEOGENESIS, TYPE III |
| 601536 | ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME |
| 108725 | ATHEROSCLEROSIS SUSCEPTIBILITY |
| 209010 | ATHEROSCLEROSIS, PREMATURE, WITH DEAFNESS, NEPHROPATHY, DIABETES MELLITUS, PHOTOMYOCLONUS, AND DEGENERATIVE NEUROLOGIC DISEASE |
| 209050 | ATHROMBIA, ESSENTIAL |
| 300431 | ATKIN-FLAITZ SYNDROME |
| 209100 | ATONIC-ASTATIC SYNDROME OF FOERSTER |
| 170995 | ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3 |
| 604273 | ATPase DEFICIENCY, NUCLEAR-ENCODED |
| 209300 | ATRANSFERRINEMIA |
| 108760 | ATRESIA OF EXTERNAL AUDITORY CANAL AND CONDUCTION DEAFNESS |
| 608583 | ATRIAL FIBRILLATION, FAMILIAL, 1 |
| 614022 | ATRIAL FIBRILLATION, FAMILIAL, 10 |
| 614049 | ATRIAL FIBRILLATION, FAMILIAL, 11 |
| 614050 | ATRIAL FIBRILLATION, FAMILIAL, 12 |
| 615377 | ATRIAL FIBRILLATION, FAMILIAL, 13 |
| 615378 | ATRIAL FIBRILLATION, FAMILIAL, 14 |
| 607554 | ATRIAL FIBRILLATION, FAMILIAL, 3 |
| 611493 | ATRIAL FIBRILLATION, FAMILIAL, 4 |
| 612201 | ATRIAL FIBRILLATION, FAMILIAL, 6 |
| 612240 | ATRIAL FIBRILLATION, FAMILIAL, 7 |
| 613980 | ATRIAL FIBRILLATION, FAMILIAL, 9 |
| 108800 | ATRIAL SEPTAL DEFECT 1 |
| 607941 | ATRIAL SEPTAL DEFECT 2 |
| 611363 | ATRIAL SEPTAL DEFECT 4 |
| 612794 | ATRIAL SEPTAL DEFECT 5 |
| 613087 | ATRIAL SEPTAL DEFECT 6 |
| 108900 | ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS |
| 614433 | ATRIAL SEPTAL DEFECT 8 |
| 614475 | ATRIAL SEPTAL DEFECT 9 |
| 603642 | ATRIAL SEPTAL DEFECT, SECUNDUM, WITH VARIOUS CARDIAC AND NONCARDIAC DEFECTS |
| 108770 | ATRIAL STANDSTILL |
| 615745 | ATRIAL STANDSTILL 2 |
| 108950 | ATRIAL TACHYARRHYTHMIA WITH SHORT PR INTERVAL |
| 209500 | ATRICHIA WITH PAPULAR LESIONS |
| 209600 | ATRIOVENTRICULAR DISSOCIATION |
| 600309 | ATRIOVENTRICULAR SEPTAL DEFECT |
| 606215 | ATRIOVENTRICULAR SEPTAL DEFECT |
| 614430 | ATRIOVENTRICULAR SEPTAL DEFECT 4 |
| 614474 | ATRIOVENTRICULAR SEPTAL DEFECT 5 |
| 600123 | ATRIOVENTRICULAR SEPTAL DEFECT WITH BLEPHAROPHIMOSIS AND ANAL AND RADIAL DEFECTS |
| 606217 | ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2 |
| 601341 | ATROPHIA MACULOSA VARIOLIFORMIS CUTIS, FAMILIAL |
| 209700 | ATROPHODERMA VERMICULATA |
| 143465 | ATTENTION DEFICIT-HYPERACTIVITY DISORDER |
| 209950 | ATYPICAL MYCOBACTERIOSIS, FAMILIAL |
| 300645 | ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 2 |
| 609129 | AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1 |
| 607842 | AURAL ATRESIA, CONGENITAL |
| 209770 | AURAL ATRESIA, MULTIPLE CONGENITAL ANOMALIES, AND MENTAL RETARDATION |
| 602483 | AURICULOCONDYLAR SYNDROME |
| 614669 | AURICULOCONDYLAR SYNDROME 2 |
| 615706 | AURICULOCONDYLAR SYNDROME 3 |
| 109000 | AURICULOOSTEODYSPLASIA |
| 109050 | AUROCEPHALOSYNDACTYLY |
| 209800 | AUSTRALIA ANTIGEN |
| 209850 | AUTISM |
| 608049 | AUTISM, SUSCEPTIBILITY TO, 3 |
| 606053 | AUTISM, SUSCEPTIBILITY TO, 5 |
| 607373 | AUTISM, SUSCEPTIBILITY TO, 8 |
| 300425 | AUTISM, SUSCEPTIBILITY TO, X-LINKED 1 |
| 300495 | AUTISM, SUSCEPTIBILITY TO, X-LINKED 2 |
| 300496 | AUTISM, SUSCEPTIBILITY TO, X-LINKED 3 |
| 109100 | AUTOIMMUNE DISEASE |
| 613385 | AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM |
| 601859 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME |
| 603909 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA |
| 614470 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV |
| 240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I |
| 269200 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE II |
| 608175 | AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3 |
| 614878 | AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED |
| 256040 | AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME |
| 209880 | AUTONOMIC CONTROL, CONGENITAL FAILURE OF |
| 608805 | AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY |
| 109120 | AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES |
| 180500 | AXENFELD-RIEGER SYNDROME, TYPE 1 |
| 601499 | AXENFELD-RIEGER SYNDROME, TYPE 2 |
| 602482 | AXENFELD-RIEGER SYNDROME, TYPE 3 |
| 109130 | AXIAL OSTEOMALACIA |
| 270960 | AZOOSPERMIA DUE TO PERTURBATIONS OF MEIOSIS |
| 606766 | AZOOSPERMIA, NONOBSTRUCTIVE |
| 109160 | AZOTEMIA, FAMILIAL |
| 151430 | B-CELL CLL/LYMPHOMA 2 |
| 109560 | B-CELL LEUKEMIA/LYMPHOMA 3 |
| 218600 | BALLER-GEROLD SYNDROME |
| 600348 | BAND HETEROTOPIA OF BRAIN |
| 251290 | BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA |
| 210740 | BANGSTAD SYNDROME |
| 109300 | BANKI SYNDROME |
| 153480 | BANNAYAN-RILEY-RUVALCABA SYNDROME |
| 243310 | BARAITSER-WINTER SYNDROME 1 |
| 614583 | BARAITSER-WINTER SYNDROME 2 |
| 300881 | BARATELA-SCOTT SYNDROME |
| 209885 | BARBER-SAY SYNDROME |
| 209900 | BARDET-BIEDL SYNDROME |
| 604571 | BARE LYMPHOCYTE SYNDROME, TYPE I |
| 209920 | BARE LYMPHOCYTE SYNDROME, TYPE II |
| 614266 | BARRETT ESOPHAGUS |
| 302060 | BARTH SYNDROME |
| 601678 | BARTTER SYNDROME, ANTENATAL, TYPE 1 |
| 241200 | BARTTER SYNDROME, ANTENATAL, TYPE 2 |
| 607364 | BARTTER SYNDROME, TYPE 3 |
| 602522 | BARTTER SYNDROME, TYPE 4A |
| 613090 | BARTTER SYNDROME, TYPE 4B |
| 605462 | BASAL CELL CARCINOMA, MULTIPLE |
| 109400 | BASAL CELL NEVUS SYNDROME |
| 213600 | BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 |
| 614540 | BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 3 |
| 615007 | BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 |
| 615483 | BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 |
| 114100 | BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET |
| 607483 | BASAL GANGLIA DISEASE, BIOTIN-RESPONSIVE |
| 126700 | BASAL LAMINAR DRUSEN |
| 605827 | BASALOID FOLLICULAR HAMARTOMA SYNDROME, GENERALIZED, AUTOSOMAL DOMINANT |
| 109500 | BASILAR IMPRESSION, PRIMARY |
| 301845 | BAZEX SYNDROME |
| 123790 | BEARE-STEVENSON CUTIS GYRATA SYNDROME |
| 613680 | BEAULIEU-BOYCOTT-INNES SYNDROME |
| 604919 | BECKER NEVUS SYNDROME |
| 130650 | BECKWITH-WIEDEMANN SYNDROME |
| 209970 | BEEMER LETHAL MALFORMATION SYNDROME |
| 109600 | BEETURIA |
| 109650 | BEHCET SYNDROME |
| 210000 | BEHR SYNDROME |
| 169600 | BENIGN CHRONIC PEMPHIGUS |
| 614592 | BENT BONE DYSPLASIA SYNDROME |
| 231200 | BERNARD-SOULIER SYNDROME |
| 153670 | BERNARD-SOULIER SYNDROME, AUTOSOMAL DOMINANT |
| 210050 | BERRY ANEURYSM, CIRRHOSIS, PULMONARY EMPHYSEMA, AND CEREBRAL CALCIFICATION |
| 611809 | BESTROPHINOPATHY |
| 603902 | BETA THALASSEMIA, DOMINANT INCLUSION BODY TYPE |
| 210100 | BETA-AMINOISOBUTYRIC ACID, URINARY EXCRETION OF |
| 250620 | BETA-HYDROXYISOBUTYRYL CoA DEACYLASE DEFICIENCY |
| 613985 | BETA-THALASSEMIA |
| 606673 | BETA-UREIDOPROPIONASE |
| 613161 | BETA-UREIDOPROPIONASE DEFICIENCY |
| 158810 | BETHLEM MYOPATHY |
| 210350 | BIEMOND SYNDROME II |
| 210370 | BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY |
| 109740 | BIFID NOSE |
| 210400 | BIFID NOSE |
| 608980 | BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES |
| 613291 | BILE ACID MALABSORPTION, PRIMARY |
| 607765 | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 |
| 235555 | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 |
| 613812 | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3 |
| 214950 | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4 |
| 603003 | BILE DUCT CYSTS |
| 210500 | BILIARY ATRESIA, EXTRAHEPATIC |
| 109720 | BILIARY CIRRHOSIS, PRIMARY |
| 210550 | BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY |
| 601816 | BILIRUBIN, ELEVATED CONCENTRATIONS OF, IN SERUM |
| 609762 | BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 3 |
| 253260 | BIOTINIDASE DEFICIENCY |
| 210700 | BIRD-HEADED DWARFISM, MONTREAL TYPE |
| 605808 | BIRDSHOT CHORIORETINOPATHY |
| 612292 | BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME |
| 135150 | BIRT-HOGG-DUBE SYNDROME |
| 262000 | BJORNSTAD SYNDROME |
| 109800 | BLADDER CANCER |
| 109820 | BLADDER DIVERTICULUM |
| 186580 | BLAU SYNDROME |
| 609821 | BLEEDING DISORDER DUE TO P2RY12 DEFECT |
| 605913 | BLEEDING DISORDER, EAST TEXAS TYPE |
| 614201 | BLEEDING DISORDER, PLATELET-TYPE, 11 |
| 605735 | BLEEDING DISORDER, PLATELET-TYPE, 12 |
| 614009 | BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO |
| 614158 | BLEEDING DISORDER, PLATELET-TYPE, 14 |
| 615193 | BLEEDING DISORDER, PLATELET-TYPE, 15 |
| 187800 | BLEEDING DISORDER, PLATELET-TYPE, 16 |
| 187900 | BLEEDING DISORDER, PLATELET-TYPE, 17 |
| 614200 | BLEEDING DISORDER, PLATELET-TYPE, 9 |
| 109900 | BLEPHAROCHALASIS AND DOUBLE LIP |
| 110000 | BLEPHAROCHALASIS, SUPERIOR |
| 119580 | BLEPHAROCHEILODONTIC SYNDROME |
| 110050 | BLEPHARONASOFACIAL MALFORMATION SYNDROME |
| 604314 | BLEPHAROPHIMOSIS WITH FACIAL AND GENITAL ANOMALIES AND MENTAL RETARDATION |
| 210745 | BLEPHAROPHIMOSIS WITH PTOSIS, SYNDACTYLY, AND SHORT STATURE |
| 110100 | BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS |
| 615057 | BLEPHAROPHIMOSIS-PTOSIS-INTELLECTUAL DISABILITY SYNDROME |
| 110150 | BLEPHAROPTOSIS, MYOPIA, AND ECTOPIA LENTIS |
| 606798 | BLEPHAROSPASM, BENIGN ESSENTIAL |
| 615264 | BLOOD GROUP, VEL SYSTEM |
| 111150 | BLOOD GROUP--LUTHERAN INHIBITOR |
| 210900 | BLOOM SYNDROME |
| 303700 | BLUE CONE MONOCHROMACY |
| 211000 | BLUE DIAPER SYNDROME |
| 112200 | BLUE RUBBER BLEB NEVUS |
| 615457 | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18 |
| 602025 | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9 |
| 605039 | BOHRING-OPITZ SYNDROME |
| 211120 | BONE DYSPLASIA, LETHAL, HOLMGREN TYPE |
| 612394 | BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS |
| 112240 | BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS, AND DISTINCTIVE FACIAL FEATURES |
| 614675 | BONE MARROW FAILURE SYNDROME 1 |
| 615715 | BONE MARROW FAILURE SYNDROME 2 |
| 601884 | BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1 |
| 613418 | BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15 |
| 300910 | BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 18 |
| 603248 | BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IB |
| 112270 | BONE PAIN, PERIODIC |
| 112300 | BOOK SYNDROME |
| 112310 | BOOMERANG DYSPLASIA |
| 600257 | BOR-DUANE HYDROCEPHALUS CONTIGUOUS GENE SYNDROME |
| 301900 | BORJESON-FORSSMAN-LEHMANN SYNDROME |
| 300843 | BORNHOLM EYE DISEASE |
| 211170 | BORRONE DERMATOCARDIOSKELETAL SYNDROME |
| 615722 | BOSCH-BOONSTRA OPTIC ATROPHY SYNDROME |
| 607475 | BOTHNIA RETINAL DYSTROPHY |
| 215470 | BOUCHER-NEUHAUSER SYNDROME |
| 211200 | BOWEN SYNDROME OF MULTIPLE MALFORMATIONS |
| 211180 | BOWEN-CONRADI SYNDROME |
| 112350 | BOWING OF LEGS, ANTERIOR, WITH DWARFISM |
| 601357 | BRACHIAL AMELIA, CLEFT LIP, AND HOLOPROSENCEPHALY |
| 211380 | BRACHIOSKELETOGENITAL SYNDROME |
| 112370 | BRACHMANN-DE LANGE-LIKE FACIAL CHANGES WITH MICROCEPHALY, METATARSUS ADDUCTUS, AND DEVELOPMENTAL DELAY |
| 601353 | BRACHYCEPHALY, DEAFNESS, CATARACT, MICROSTOMIA, AND MENTAL RETARDATION |
| 610023 | BRACHYDACTYLY, COLOBOMA, AND ANTERIOR SEGMENT DYSGENESIS |
| 112440 | BRACHYDACTYLY, COMBINED B AND E TYPES |
| 112430 | BRACHYDACTYLY, LONG-THUMB TYPE |
| 301940 | BRACHYDACTYLY, MONONEN TYPE |
| 112450 | BRACHYDACTYLY, PREAXIAL, WITH HALLUX VARUS AND THUMB ABDUCTION |
| 112500 | BRACHYDACTYLY, TYPE A1 |
| 607004 | BRACHYDACTYLY, TYPE A1, B |
| 615072 | BRACHYDACTYLY, TYPE A1, C |
| 613627 | BRACHYDACTYLY, TYPE A1, WITH SHORT STATURE, SCOLIOSIS, MICROCEPHALY, PTOSIS, HEARING LOSS, AND MENTAL RETARDATION |
| 112600 | BRACHYDACTYLY, TYPE A2 |
| 211369 | BRACHYDACTYLY, TYPE A2, WITH MICROCEPHALY |
| 112700 | BRACHYDACTYLY, TYPE A3 |
| 112800 | BRACHYDACTYLY, TYPE A4 |
| 112900 | BRACHYDACTYLY, TYPE A5, WITH NAIL DYSPLASIA |
| 112910 | BRACHYDACTYLY, TYPE A6 |
| 113000 | BRACHYDACTYLY, TYPE B1 |
| 611377 | BRACHYDACTYLY, TYPE B2 |
| 113100 | BRACHYDACTYLY, TYPE C |
| 113200 | BRACHYDACTYLY, TYPE D |
| 113300 | BRACHYDACTYLY, TYPE E |
| 113301 | BRACHYDACTYLY, TYPE E, WITH ATRIAL SEPTAL DEFECT, TYPE II |
| 613382 | BRACHYDACTYLY, TYPE E2 |
| 113450 | BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME |
| 113310 | BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA |
| 600430 | BRACHYDACTYLY-MENTAL RETARDATION SYNDROME |
| 113400 | BRACHYDACTYLY-NYSTAGMUS-CEREBELLAR ATAXIA |
| 610713 | BRACHYDACTYLY-SYNDACTYLY SYNDROME |
| 113470 | BRACHYMESOMELIA-RENAL SYNDROME |
| 211370 | BRACHYMETAPODY-ANODONTIA-HYPOTRICHOSIS-ALBINOIDISM |
| 113475 | BRACHYMETATARSUS IV |
| 113477 | BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME |
| 271530 | BRACHYOLMIA TYPE 1, HOBAEK TYPE |
| 271630 | BRACHYOLMIA TYPE 1, TOLEDO TYPE |
| 184095 | BRACHYOLMIA TYPE 2 |
| 613678 | BRACHYOLMIA TYPE 2 |
| 113500 | BRACHYOLMIA TYPE 3 |
| 612847 | BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES |
| 609945 | BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA |
| 113480 | BRACHYTELEPHALANGY WITH CHARACTERISTIC FACIES AND KALLMANN SYNDROME |
| 300404 | BRAIN ANOMALIES, RETARDATION, ECTODERMAL DYSPLASIA, SKELETAL MALFORMATIONS, HIRSCHSPRUNG DISEASE, EAR/EYE ANOMALIES, CLEFT PALATE/CRYPTORCHIDISM, AND KIDNEY DYSPLASIA/HYPOPLASIA |
| 607595 | BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE |
| 614923 | BRANCHED-CHAIN KETOACID DEHYDROGENASE KINASE DEFICIENCY |
| 301950 | BRANCHIAL ARCH SYNDROME, X-LINKED |
| 113610 | BRANCHIAL MYOCLONUS WITH SPASTIC PARAPARESIS AND CEREBELLAR ATAXIA |
| 609166 | BRANCHIOGENIC-DEAFNESS SYNDROME |
| 113620 | BRANCHIOOCULOFACIAL SYNDROME |
| 602588 | BRANCHIOOTIC SYNDROME 1 |
| 120502 | BRANCHIOOTIC SYNDROME 2 |
| 608389 | BRANCHIOOTIC SYNDROME 3 |
| 113650 | BRANCHIOOTORENAL SYNDROME 1 |
| 610896 | BRANCHIOOTORENAL SYNDROME 2 |
| 136500 | BRAUER SYNDROME |
| 151410 | BREAKPOINT CLUSTER REGION |
| 114480 | BREAST CANCER |
| 113705 | BREAST CANCER 1 GENE |
| 604370 | BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 |
| 612555 | BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 |
| 113700 | BREASTS AND NIPPLES, ABSENCE OF |
| 607578 | BREATH-HOLDING SPELLS |
| 229200 | BRITTLE CORNEA SYNDROME |
| 614170 | BRITTLE CORNEA SYNDROME 2 |
| 602071 | BROAD TERMINAL PHALANGES, FAMILIAL |
| 601003 | BRODY MYOPATHY |
| 211400 | BRONCHIECTASIS |
| 613021 | BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2 |
| 613071 | BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3 |
| 211450 | BRONCHOMALACIA |
| 605041 | BROOKE-SPIEGLER SYNDROME |
| 300612 | BROOKS-WISNIEWSKI-BROWN SYNDROME |
| 211530 | BROWN-VIALETTO-VAN LAERE SYNDROME |
| 614707 | BROWN-VIALETTO-VAN LAERE SYNDROME 2 |
| 259450 | BRUCK SYNDROME 1 |
| 609220 | BRUCK SYNDROME 2 |
| 601144 | BRUGADA SYNDROME 1 |
| 611777 | BRUGADA SYNDROME 2 |
| 611875 | BRUGADA SYNDROME 3 |
| 611876 | BRUGADA SYNDROME 4 |
| 612838 | BRUGADA SYNDROME 5 |
| 613119 | BRUGADA SYNDROME 6 |
| 613120 | BRUGADA SYNDROME 7 |
| 613123 | BRUGADA SYNDROME 8 |
| 300615 | BRUNNER SYNDROME |
| 300300 | BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE |
| 613278 | BTB/POZ DOMAIN-CONTAINING PROTEIN 12 |
| 600880 | BUDD-CHIARI SYNDROME |
| 211480 | BUERGER DISEASE |
| 211500 | BULBAR PALSY, PROGRESSIVE, OF CHILDHOOD |
| 607499 | BULIMIA NERVOSA, SUSCEPTIBILITY TO, 1 |
| 302000 | BULLOUS DYSTROPHY, HEREDITARY MACULAR TYPE |
| 113800 | BULLOUS ERYTHRODERMA ICHTHYOSIFORMIS CONGENITA OF BROCQ |
| 113950 | BUNDLE BRANCH BLOCK, FAMILIAL ISOLATED COMPLETE RIGHT |
| 113970 | BURKITT LYMPHOMA |
| 608572 | BURN-MCKEOWN SYNDROME |
| 166700 | BUSCHKE-OLLENDORFF SYNDROME |
| 177400 | BUTYRYLCHOLINESTERASE |
| 211750 | C SYNDROME |
| 602618 | C-TERMINAL-BINDING PROTEIN 1 |
| 613652 | C1q DEFICIENCY |
| 615082 | C3HEX, ABILITY TO SMELL |
| 114030 | CAFE-AU-LAIT SPOTS, MULTIPLE |
| 114000 | CAFFEY DISEASE |
| 211770 | CAHMR SYNDROME |
| 302020 | CALBINDIN 3 |
| 114065 | CALCIFIC AORTIC DISEASE WITH IMMUNOLOGIC ABNORMALITIES, FAMILIAL |
| 211800 | CALCIFICATION OF JOINTS AND ARTERIES |
| 114140 | CALLOSITIES, HEREDITARY PAINFUL |
| 302030 | CALVARIAL HYPEROSTOSIS |
| 604257 | CAMERA-MARUGO-COHEN SYNDROME |
| 211890 | CAMPOMELIA, CUMMING TYPE |
| 114290 | CAMPOMELIC DYSPLASIA |
| 114150 | CAMPTOBRACHYDACTYLY |
| 114200 | CAMPTODACTYLY 1 |
| 211910 | CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I |
| 211920 | CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE II |
| 611929 | CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE III |
| 211930 | CAMPTODACTYLY WITH FIBROUS TISSUE HYPERPLASIA AND SKELETAL DYSPLASIA |
| 211960 | CAMPTODACTYLY WITH MUSCULAR HYPOPLASIA, SKELETAL DYSPLASIA, AND ABNORMAL PALMAR CREASES |
| 602612 | CAMPTODACTYLY, MYOPIA, AND FIBROSIS OF THE MEDIAL RECTUS MUSCLE OF EYE |
| 610474 | CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME |
| 208250 | CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME |
| 211990 | CAMPTOMELIC SYNDROME, LONG-LIMB TYPE |
| 131300 | CAMURATI-ENGELMANN DISEASE |
| 271900 | CANAVAN DISEASE |
| 114450 | CANCER, FAMILIAL, WITH IN VITRO RADIORESISTANCE |
| 212050 | CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL RECESSIVE |
| 607644 | CANDIDIASIS, FAMILIAL CHRONIC NAIL, WITH ICAM1 DEFICIENCY |
| 114580 | CANDIDIASIS, FAMILIAL, 1 |
| 613108 | CANDIDIASIS, FAMILIAL, 4 |
| 613953 | CANDIDIASIS, FAMILIAL, 5 |
| 613956 | CANDIDIASIS, FAMILIAL, 6 |
| 614162 | CANDIDIASIS, FAMILIAL, 7 |
| 615527 | CANDIDIASIS, FAMILIAL, 8 |
| 114600 | CANINE TEETH, ABSENCE OF UPPER PERMANENT |
| 239850 | CANTU SYNDROME |
| 613089 | CAPILLARY MALFORMATION OF THE LOWER LIP, LYMPHATIC MALFORMATION OF FACE AND NECK, ASYMMETRY OF FACE AND LIMBS, AND PARTIAL/GENERALIZED OVERGROWTH |
| 608354 | CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION |
| 163000 | CAPILLARY MALFORMATIONS, CONGENITAL, 1 |
| 114650 | CAR FACTOR DEFICIENCY |
| 114700 | CARABELLI ANOMALY OF MAXILLARY MOLAR TEETH |
| 237300 | CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO |
| 212060 | CARBIMAZOLE SENSITIVITY |
| 615751 | CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO |
| 114835 | CARBOXYLESTERASE 1 |
| 212070 | CARBOXYPEPTIDASE N DEFICIENCY |
| 114890 | CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 5 |
| 114900 | CARCINOID TUMORS, INTESTINAL |
| 615206 | CARD11 IMMUNODEFICIENCY |
| 115000 | CARDIAC ARRHYTHMIA |
| 600919 | CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED |
| 115080 | CARDIAC CONDUCTION DEFECT |
| 212080 | CARDIAC LIPIDOSIS, FAMILIAL |
| 600987 | CARDIAC MALFORMATION, CLEFT LIP-PALATE, MICROCEPHALY AND DIGITAL ANOMALIES |
| 212090 | CARDIAC SEPTAL DEFECTS WITH COARCTATION OF THE AORTA |
| 212093 | CARDIAC VALVULAR DEFECT, DEVELOPMENTAL |
| 314400 | CARDIAC VALVULAR DYSPLASIA, X-LINKED |
| 212100 | CARDIOAUDITORY SYNDROME OF SANCHEZ CASCOS |
| 604377 | CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY |
| 615119 | CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2 |
| 115150 | CARDIOFACIOCUTANEOUS SYNDROME |
| 615278 | CARDIOFACIOCUTANEOUS SYNDROME 2 |
| 615279 | CARDIOFACIOCUTANEOUS SYNDROME 3 |
| 212130 | CARDIOMYOPATHY ASSOCIATED WITH MYOPATHY AND SUDDEN DEATH |
| 212112 | CARDIOMYOPATHY, CONGESTIVE, WITH HYPERGONADOTROPIC HYPOGONADISM |
| 115200 | CARDIOMYOPATHY, DILATED, 1A |
| 612158 | CARDIOMYOPATHY, DILATED, 1AA |
| 600884 | CARDIOMYOPATHY, DILATED, 1B |
| 612877 | CARDIOMYOPATHY, DILATED, 1BB |
| 601493 | CARDIOMYOPATHY, DILATED, 1C |
| 613122 | CARDIOMYOPATHY, DILATED, 1CC |
| 601494 | CARDIOMYOPATHY, DILATED, 1D |
| 613172 | CARDIOMYOPATHY, DILATED, 1DD |
| 601154 | CARDIOMYOPATHY, DILATED, 1E |
| 613252 | CARDIOMYOPATHY, DILATED, 1EE |
| 602067 | CARDIOMYOPATHY, DILATED, 1F |
| 613286 | CARDIOMYOPATHY, DILATED, 1FF |
| 604145 | CARDIOMYOPATHY, DILATED, 1G |
| 613642 | CARDIOMYOPATHY, DILATED, 1GG |
| 613881 | CARDIOMYOPATHY, DILATED, 1HH |
| 604765 | CARDIOMYOPATHY, DILATED, 1I |
| 615184 | CARDIOMYOPATHY, DILATED, 1II |
| 605362 | CARDIOMYOPATHY, DILATED, 1J |
| 615235 | CARDIOMYOPATHY, DILATED, 1JJ |
| 615248 | CARDIOMYOPATHY, DILATED, 1KK |
| 606685 | CARDIOMYOPATHY, DILATED, 1L |
| 607482 | CARDIOMYOPATHY, DILATED, 1M |
| 607487 | CARDIOMYOPATHY, DILATED, 1N |
| 608569 | CARDIOMYOPATHY, DILATED, 1O |
| 609909 | CARDIOMYOPATHY, DILATED, 1P |
| 613424 | CARDIOMYOPATHY, DILATED, 1R |
| 613426 | CARDIOMYOPATHY, DILATED, 1S |
| 613740 | CARDIOMYOPATHY, DILATED, 1T |
| 613694 | CARDIOMYOPATHY, DILATED, 1U |
| 613697 | CARDIOMYOPATHY, DILATED, 1V |
| 611407 | CARDIOMYOPATHY, DILATED, 1W |
| 611615 | CARDIOMYOPATHY, DILATED, 1X |
| 611878 | CARDIOMYOPATHY, DILATED, 1Y |
| 611879 | CARDIOMYOPATHY, DILATED, 1Z |
| 611880 | CARDIOMYOPATHY, DILATED, 2A |
| 614672 | CARDIOMYOPATHY, DILATED, 2B |
| 302045 | CARDIOMYOPATHY, DILATED, 3B |
| 212110 | CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE |
| 605676 | CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA |
| 192600 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC |
| 608758 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 |
| 612098 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11 |
| 612124 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 |
| 613243 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13 |
| 613251 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14 |
| 613255 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 |
| 613838 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16 |
| 613873 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17 |
| 613874 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18 |
| 613875 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 19 |
| 115195 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2 |
| 613876 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20 |
| 614676 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 21 |
| 115196 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 |
| 115197 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 |
| 600858 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 |
| 613690 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 |
| 608751 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 |
| 613765 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 |
| 115210 | CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 |
| 612422 | CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 |
| 500000 | CARDIOMYOPATHY, INFANTILE HISTIOCYTOID |
| 606842 | CARDIONEUROMYOPATHY WITH HYALINE MASSES AND NEMALINE RODS |
| 212135 | CARDIOSKELETAL SYNDROME, KUWAITI TYPE |
| 608837 | CARNEY COMPLEX VARIANT |
| 160980 | CARNEY COMPLEX, TYPE 1 |
| 604287 | CARNEY TRIAD |
| 606175 | CARNITINE ACETYLTRANSFERASE DEFICIENCY |
| 212160 | CARNITINE DEFICIENCY, MYOPATHIC |
| 212140 | CARNITINE DEFICIENCY, SYSTEMIC PRIMARY |
| 255120 | CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY |
| 600649 | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE |
| 255110 | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET |
| 608836 | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL |
| 212138 | CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY |
| 212200 | CARNOSINEMIA |
| 600643 | CAROLI DISEASE, ISOLATED |
| 609338 | CAROTID INTIMAL MEDIAL THICKNESS 1 |
| 115400 | CARPAL DISPLACEMENT |
| 115430 | CARPAL TUNNEL SYNDROME |
| 201000 | CARPENTER SYNDROME |
| 614976 | CARPENTER SYNDROME 2 |
| 250250 | CARTILAGE-HAIR HYPOPLASIA |
| 607271 | CASPASE 8 DEFICIENCY |
| 115470 | CAT EYE SYNDROME |
| 116200 | CATARACT 1, MULTIPLE TYPES |
| 600881 | CATARACT 10, MULTIPLE TYPES |
| 610623 | CATARACT 11, MULTIPLE TYPES |
| 611597 | CATARACT 12, MULTIPLE TYPES |
| 601885 | CATARACT 14, MULTIPLE TYPES |
| 615274 | CATARACT 15, MULTIPLE TYPES |
| 613763 | CATARACT 16, MULTIPLE TYPES |
| 611544 | CATARACT 17, MULTIPLE TYPES |
| 610019 | CATARACT 18 |
| 615277 | CATARACT 19 |
| 604307 | CATARACT 2, MULTIPLE TYPES |
| 610202 | CATARACT 21, MULTIPLE TYPES |
| 609741 | CATARACT 22 |
| 601202 | CATARACT 24 |
| 601547 | CATARACT 3, MULTIPLE TYPES |
| 605387 | CATARACT 31, MULTIPLE TYPES |
| 115650 | CATARACT 32, MULTIPLE TYPES |
| 609376 | CATARACT 35 |
| 613887 | CATARACT 36 |
| 614422 | CATARACT 37 |
| 614691 | CATARACT 38 |
| 615188 | CATARACT 39, MULTIPLE TYPES |
| 115700 | CATARACT 4, MULTIPLE TYPES |
| 116400 | CATARACT 41 |
| 116800 | CATARACT 5, MULTIPLE TYPES |
| 116600 | CATARACT 6, MULTIPLE TYPES |
| 115660 | CATARACT 7 |
| 115665 | CATARACT 8, MULTIPLE TYPES |
| 604219 | CATARACT 9, MULTIPLE TYPES |
| 212350 | CATARACT AND CARDIOMYOPATHY |
| 212400 | CATARACT AND CONGENITAL ICHTHYOSIS |
| 115645 | CATARACT, ABERRANT ORAL FRENULA, AND GROWTH RETARDATION |
| 601371 | CATARACT, AGE-RELATED NUCLEAR |
| 300619 | CATARACT, ATAXIA, SHORT STATURE, AND MENTAL RETARDATION |
| 302200 | CATARACT, CONGENITAL TOTAL, WITH POSTERIOR SUTURAL OPACITIES IN HETEROZYGOTES |
| 607674 | CATARACT, CONGENITAL, WITH MENTAL IMPAIRMENT AND DENTATE GYRUS ATROPHY |
| 611391 | CATARACT, CORTICAL, JUVENILE-ONSET |
| 115800 | CATARACT, CRYSTALLINE CORALLIFORM |
| 115900 | CATARACT, FLORIFORM |
| 612018 | CATARACT, JUVENILE, WITH MICROCORNEA AND GLUCOSURIA |
| 610425 | CATARACT, LAMELLAR 2 |
| 116100 | CATARACT, MEMBRANOUS |
| 212540 | CATARACT, MICROCEPHALY, FAILURE TO THRIVE, KYPHOSCOLIOSIS SYNDROME |
| 601286 | CATARACT, NONNUCLEAR POLYMORPHIC CONGENITAL, AUTOSOMAL DOMINANT |
| 116300 | CATARACT, NUCLEAR DIFFUSE NONPROGRESSIVE |
| 610634 | CATARACT, POSTERIOR POLAR, 5 |
| 116700 | CATARACT, TOTAL CONGENITAL |
| 212360 | CATARACT-ALOPECIA-SCLERODACTYLY SYNDROME |
| 212710 | CATARACT-ATAXIA-DEAFNESS-RETARDATION SYNDROME |
| 116150 | CATARACT-MICROCORNEA SYNDROME |
| 601088 | CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKE FACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION |
| 116850 | CATATRICHY |
| 116790 | CATECHOL-O-METHYLTRANSFERASE |
| 302380 | CATEL-MANZKE SYNDROME |
| 116806 | CATENIN, BETA-1 |
| 607864 | CAUDAL DUPLICATION ANOMALY |
| 611543 | CAVITARY OPTIC DISC ANOMALIES |
| 125520 | CAYLER CARDIOFACIAL SYNDROME |
| 614893 | CD11C-POSITIVE/CD1C-POSITIVE DENDRITIC CELL DEFICIENCY, AUTOSOMAL DOMINANT |
| 107265 | CD19 ANTIGEN |
| 186830 | CD3 ANTIGEN, EPSILON SUBUNIT |
| 186740 | CD3 ANTIGEN, GAMMA SUBUNIT |
| 612300 | CD59 DEFICIENCY |
| 608957 | CD8 DEFICIENCY, FAMILIAL |
| 603116 | CDAGS SYNDROME |
| 116870 | CELIAC ARTERY STENOSIS FROM COMPRESSION BY MEDIAN ARCUATE LIGAMENT OF DIAPHRAGM |
| 212750 | CELIAC DISEASE |
| 176873 | CELL DIVISION CYCLE 2-LIKE 1 |
| 212780 | CENANI SYNDACTYLISM |
| 217600 | CENTRAL CLOUDY DYSTROPHY OF FRANCOIS |
| 117000 | CENTRAL CORE DISEASE OF MUSCLE |
| 302400 | CENTRAL INCISORS, ABSENCE OF |
| 117100 | CENTRALOPATHIC EPILEPSY |
| 212800 | CEPHALIN LIPIDOSIS |
| 212835 | CEREBELLAR ATAXIA AND ECTODERMAL DYSPLASIA |
| 212840 | CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM |
| 212850 | CEREBELLAR ATAXIA AND NEUROSENSORY DEAFNESS |
| 601338 | CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS |
| 212890 | CEREBELLAR ATAXIA, BENIGN, WITH THERMOANALGESIA |
| 601238 | CEREBELLAR ATAXIA, CAYMAN TYPE |
| 604121 | CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY |
| 212895 | CEREBELLAR ATAXIA, EARLY-ONSET, WITH RETAINED TENDON REFLEXES |
| 224050 | CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1 |
| 610185 | CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 |
| 613227 | CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3 |
| 615268 | CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 |
| 614575 | CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME |
| 614756 | CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION |
| 302650 | CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 1 |
| 602197 | CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 3 |
| 213000 | CEREBELLAR HYPOPLASIA |
| 213002 | CEREBELLAR HYPOPLASIA WITH ENDOSTEAL SCLEROSIS |
| 213010 | CEREBELLAR VERMIS APLASIA WITH ASSOCIATED FEATURES SUGGESTING SMITH-LEMLI-OPITZ SYNDROME AND MECKEL SYNDROME |
| 213100 | CEREBELLOPARENCHYMAL DISORDER II |
| 213400 | CEREBELLOPARENCHYMAL DISORDER V |
| 601853 | CEREBELLOTRIGEMINAL DERMAL DYSPLASIA |
| 605714 | CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED |
| 105150 | CEREBRAL AMYLOID ANGIOPATHY, CST3-RELATED |
| 176500 | CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 |
| 117300 | CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2 |
| 213500 | CEREBRAL ANGIOPATHY, DYSPHORIC |
| 125310 | CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY |
| 600142 | CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY |
| 116860 | CEREBRAL CAVERNOUS MALFORMATIONS |
| 603284 | CEREBRAL CAVERNOUS MALFORMATIONS 2 |
| 603285 | CEREBRAL CAVERNOUS MALFORMATIONS 3 |
| 300352 | CEREBRAL CREATINE DEFICIENCY SYNDROME 1 |
| 612736 | CEREBRAL CREATINE DEFICIENCY SYNDROME 2 |
| 609528 | CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME |
| 609065 | CEREBRAL HEMORRHAGE WITH AMYLOIDOSIS, HEREDITARY, DUTCH TYPE |
| 605388 | CEREBRAL PALSY, ATAXIC, AUTOSOMAL RECESSIVE |
| 603513 | CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1 |
| 612900 | CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2 |
| 612936 | CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3 |
| 613744 | CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 4 |
| 117600 | CEREBRAL SARCOMA |
| 213900 | CEREBRAL SCLEROSIS SIMILAR TO PELIZAEUS-MERZBACHER DISEASE |
| 302700 | CEREBRAL SCLEROSIS, DIFFUSE, SCHOLZ TYPE |
| 300864 | CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED |
| 213950 | CEREBROCORTICAL DEGENERATION OF INFANCY |
| 117650 | CEREBROCOSTOMANDIBULAR SYNDROME |
| 601390 | CEREBROFACIOARTICULAR SYNDROME |
| 213980 | CEREBROFACIOTHORACIC DYSPLASIA |
| 608578 | CEREBROFRONTOFACIAL SYNDROME |
| 214110 | CEREBROHEPATORENAL SYNDROME, VARIANT TYPES |
| 214150 | CEREBROOCULOFACIOSKELETAL SYNDROME 1 |
| 610756 | CEREBROOCULOFACIOSKELETAL SYNDROME 2 |
| 610758 | CEREBROOCULOFACIOSKELETAL SYNDROME 4 |
| 605627 | CEREBROOCULONASAL SYNDROME |
| 609345 | CEREBRORENODIGITAL SYNDROME WITH LIMB MALFORMATIONS AND TRIRADIATE ACETABULA |
| 612199 | CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS |
| 213700 | CEREBROTENDINOUS XANTHOMATOSIS |
| 256730 | CEROID LIPOFUSCINOSIS, NEURONAL, 1 |
| 610127 | CEROID LIPOFUSCINOSIS, NEURONAL, 10 |
| 614706 | CEROID LIPOFUSCINOSIS, NEURONAL, 11 |
| 615362 | CEROID LIPOFUSCINOSIS, NEURONAL, 13 |
| 204500 | CEROID LIPOFUSCINOSIS, NEURONAL, 2 |
| 204200 | CEROID LIPOFUSCINOSIS, NEURONAL, 3 |
| 204300 | CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE |
| 162350 | CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT |
| 256731 | CEROID LIPOFUSCINOSIS, NEURONAL, 5 |
| 601780 | CEROID LIPOFUSCINOSIS, NEURONAL, 6 |
| 610951 | CEROID LIPOFUSCINOSIS, NEURONAL, 7 |
| 600143 | CEROID LIPOFUSCINOSIS, NEURONAL, 8 |
| 610003 | CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT |
| 609055 | CEROID LIPOFUSCINOSIS, NEURONAL, 9 |
| 214200 | CEROID STORAGE DISEASE |
| 603956 | CERVICAL CANCER |
| 117850 | CERVICAL HYPERTRICHOSIS WITH UNDERLYING KYPHOSCOLIOSIS |
| 117900 | CERVICAL RIB |
| 601389 | CERVICAL RIBS, SPRENGEL ANOMALY, ANAL ATRESIA, AND URETHRAL OBSTRUCTION |
| 214290 | CERVICAL VERTEBRAE, AGENESIS OF |
| 118000 | CERVICAL VERTEBRAL BRIDGE |
| 118005 | CERVICAL VERTEBRAL DYSPLASIA |
| 614809 | CFHR5 DEFICIENCY |
| 275630 | CHANARIN-DORFMAN SYNDROME |
| 214350 | CHANDS |
| 169100 | CHAR SYNDROME |
| 153310 | CHARCOT-LEYDEN CRYSTAL PROTEIN |
| 118300 | CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS |
| 118301 | CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM |
| 118210 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 |
| 609260 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 |
| 600882 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B |
| 605588 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 |
| 605589 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2 |
| 601472 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D |
| 607684 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E |
| 606595 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F |
| 608591 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G |
| 607731 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2H |
| 607677 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I |
| 607736 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J |
| 607831 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K |
| 608673 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L |
| 613287 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N |
| 614228 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O |
| 614436 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P |
| 615025 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q |
| 615490 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R |
| 607706 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE |
| 118220 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A |
| 118200 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B |
| 601098 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C |
| 607678 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D |
| 607734 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F |
| 614895 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F |
| 606483 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A |
| 606482 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B |
| 608323 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C |
| 607791 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D |
| 614455 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E |
| 615185 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F |
| 118230 | CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE |
| 608340 | CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A |
| 613641 | CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B |
| 615376 | CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C |
| 214400 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A |
| 601382 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1 |
| 604563 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2 |
| 615284 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 |
| 601596 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C |
| 601455 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D |
| 609311 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H |
| 611228 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J |
| 302800 | CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 |
| 300905 | CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6 |
| 302801 | CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2 |
| 302802 | CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 |
| 311070 | CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 |
| 302900 | CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA, COMBINED |
| 302803 | CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED, WITH APLASIA CUTIS CONGENITA |
| 214800 | CHARGE SYNDROME |
| 604373 | CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF |
| 214500 | CHEDIAK-HIGASHI SYNDROME |
| 118330 | CHEILITIS GLANDULARIS |
| 118350 | CHEMODECTOMA, INTRAABDOMINAL, WITH CUTANEOUS ANGIOLIPOMAS |
| 601156 | CHEMOKINE, CC MOTIF, LIGAND 11 |
| 158105 | CHEMOKINE, CC MOTIF, LIGAND 2 |
| 118400 | CHERUBISM |
| 118420 | CHIARI MALFORMATION TYPE I |
| 207950 | CHIARI MALFORMATION TYPE II |
| 610448 | CHILBLAIN LUPUS |
| 614415 | CHILBLAIN LUPUS 2 |
| 515000 | CHLORAMPHENICOL TOXICITY |
| 118430 | CHLORPROPAMIDE-ALCOHOL FLUSHING |
| 609512 | CHMP FAMILY, MEMBER 2B |
| 613611 | CHOANAL ATRESIA AND LYMPHEDEMA |
| 615619 | CHOLANGIOCARCINOMA, SUSCEPTIBILITY TO |
| 613806 | CHOLANGITIS, PRIMARY SCLEROSING |
| 214980 | CHOLESTASIS WITH GALLSTONE, ATAXIA, AND VISUAL DISTURBANCE |
| 243300 | CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1 |
| 605479 | CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2 |
| 147480 | CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY |
| 614972 | CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 |
| 211600 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1 |
| 601847 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2 |
| 602347 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 |
| 214900 | CHOLESTASIS-LYMPHEDEMA SYNDROME |
| 215030 | CHOLESTEROL PNEUMONIA |
| 607322 | CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY |
| 600668 | CHONDROCALCINOSIS 1 |
| 118600 | CHONDROCALCINOSIS 2 |
| 118610 | CHONDROCALCINOSIS DUE TO APATITE CRYSTAL DEPOSITION |
| 215050 | CHONDRODYSPLASIA CALCIFICANS METAPHYSEALIS |
| 302950 | CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE |
| 302960 | CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT |
| 215105 | CHONDRODYSPLASIA PUNCTATA SYNDROME |
| 118650 | CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANT |
| 602497 | CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC, AUTOSOMAL |
| 118651 | CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE |
| 614078 | CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE |
| 300863 | CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA |
| 609441 | CHONDRODYSPLASIA, ACROMESOMELIC, WITH GENITAL ANOMALIES |
| 215045 | CHONDRODYSPLASIA, BLOMSTRAND TYPE |
| 200700 | CHONDRODYSPLASIA, GREBE TYPE |
| 601376 | CHONDRODYSPLASIA, LETHAL, WITH LONG BONE ANGULATION AND MIXED BONE DENSITY |
| 613320 | CHONDRODYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE |
| 600092 | CHONDRODYSPLASIA-PSEUDOHERMAPHRODITISM SYNDROME |
| 215250 | CHONDROITIN-6-SULFATURIA, DEFECTIVE CELLULAR IMMUNITY, NEPHROTIC SYNDROME |
| 215300 | CHONDROSARCOMA |
| 612237 | CHONDROSARCOMA, EXTRASKELETAL MYXOID |
| 215400 | CHORDOMA, SUSCEPTIBILITY TO |
| 215450 | CHOREA, BENIGN FAMILIAL |
| 118700 | CHOREA, BENIGN HEREDITARY |
| 601372 | CHOREA, REMITTING, WITH NYSTAGMUS AND CATARACT |
| 200150 | CHOREOACANTHOCYTOSIS |
| 118750 | CHOREOATHETOSIS, FAMILIAL INVERTED |
| 610978 | CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS |
| 601042 | CHOREOATHETOSIS/SPASTICITY, EPISODIC |
| 600790 | CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL |
| 215480 | CHOROID PLEXUS CALCIFICATION AND MENTAL RETARDATION |
| 215500 | CHOROIDAL DYSTROPHY, CENTRAL AREOLAR |
| 613105 | CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 |
| 613144 | CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 3 |
| 118865 | CHOROIDAL OSTEOMA, BILATERAL |
| 303100 | CHOROIDEREMIA |
| 303110 | CHOROIDEREMIA WITH DEAFNESS AND OBESITY |
| 215510 | CHROMOSOMAL INSTABILITY WITH TISSUE-SPECIFIC RADIOSENSITIVITY |
| 612242 | CHROMOSOME 10q23 DELETION SYNDROME |
| 609625 | CHROMOSOME 10q26 DELETION SYNDROME |
| 613884 | CHROMOSOME 13q14 DELETION SYNDROME |
| 613457 | CHROMOSOME 14q11-q22 DELETION SYNDROME |
| 608636 | CHROMOSOME 15q11-q13 DUPLICATION SYNDROME |
| 615656 | CHROMOSOME 15q11.2 DELETION SYNDROME |
| 612001 | CHROMOSOME 15q13.3 DELETION SYNDROME |
| 613406 | CHROMOSOME 15q24 DELETION SYNDROME |
| 614294 | CHROMOSOME 15q25 DELETION SYNDROME |
| 612626 | CHROMOSOME 15q26-qter DELETION SYNDROME |
| 611913 | CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
| 136570 | CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB |
| 613604 | CHROMOSOME 16p12.2-p11.2 DELETION SYNDROME, 7.1- TO 8.7-MB |
| 610543 | CHROMOSOME 16p13.3 DELETION SYNDROME |
| 613458 | CHROMOSOME 16p13.3 DUPLICATION SYNDROME |
| 614541 | CHROMOSOME 16q22 DELETION SYNDROME |
| 613776 | CHROMOSOME 17p13.1 DELETION SYNDROME |
| 613215 | CHROMOSOME 17p13.3 DUPLICATION SYNDROME |
| 612576 | CHROMOSOME 17p13.3, TELOMERIC, DUPLICATION SYNDROME |
| 613675 | CHROMOSOME 17q11.2 DELETION SYNDROME, 1.4-MB |
| 614527 | CHROMOSOME 17q12 DELETION SYNDROME |
| 614526 | CHROMOSOME 17q12 DUPLICATION SYNDROME |
| 610443 | CHROMOSOME 17q21.31 DELETION SYNDROME |
| 613533 | CHROMOSOME 17q21.31 DUPLICATION SYNDROME |
| 613355 | CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME |
| 613618 | CHROMOSOME 17q23.1-q23.2 DUPLICATION SYNDROME |
| 146390 | CHROMOSOME 18p DELETION SYNDROME |
| 601808 | CHROMOSOME 18q DELETION SYNDROME |
| 613026 | CHROMOSOME 19q13.11 DELETION SYNDROME |
| 613735 | CHROMOSOME 1p32-p31 DELETION SYNDROME |
| 607872 | CHROMOSOME 1p36 DELETION SYNDROME |
| 612474 | CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB |
| 274000 | CHROMOSOME 1q21.1 DELETION SYNDROME, 200-KB |
| 612475 | CHROMOSOME 1q21.1 DUPLICATION SYNDROME |
| 612530 | CHROMOSOME 1q41-q42 DELETION SYNDROME |
| 612337 | CHROMOSOME 1q43-q44 DELETION SYNDROME |
| 611867 | CHROMOSOME 22q11.2 DELETION SYNDROME, DISTAL |
| 608363 | CHROMOSOME 22q11.2 DUPLICATION SYNDROME |
| 606232 | CHROMOSOME 22q13.3 DELETION SYNDROME |
| 612513 | CHROMOSOME 2p16.1-p15 DELETION SYNDROME |
| 613681 | CHROMOSOME 2q31.1 DUPLICATION SYNDROME |
| 612313 | CHROMOSOME 2q32-q33 DELETION SYNDROME |
| 185900 | CHROMOSOME 2q35 DUPLICATION SYNDROME |
| 613792 | CHROMOSOME 3pter-p25 DELETION SYNDROME |
| 615433 | CHROMOSOME 3q13.31 DELETION SYNDROME |
| 609425 | CHROMOSOME 3q29 DELETION SYNDROME |
| 611936 | CHROMOSOME 3q29 DUPLICATION SYNDROME |
| 613509 | CHROMOSOME 4q21 DELETION SYNDROME |
| 613603 | CHROMOSOME 4q32.1-q32.2 TRIPLICATION SYNDROME |
| 613174 | CHROMOSOME 5p13 DUPLICATION SYNDROME |
| 153550 | CHROMOSOME 5q DELETION SYNDROME |
| 615668 | CHROMOSOME 5q12 DELETION SYNDROME |
| 612582 | CHROMOSOME 6pter-p24 DELETION SYNDROME |
| 613544 | CHROMOSOME 6q11-q14 DELETION SYNDROME |
| 612863 | CHROMOSOME 6q24-q25 DELETION SYNDROME |
| 613729 | CHROMOSOME 7q11.23 DELETION SYNDROME, DISTAL, 1.2-MB |
| 614230 | CHROMOSOME 8q21.11 DELETION SYNDROME |
| 151200 | CHROMOSOME 8q22.1 DUPLICATION SYNDROME |
| 614260 | CHROMOSOME 9 OPEN READING FRAME 72 |
| 158170 | CHROMOSOME 9p DELETION SYNDROME |
| 300801 | CHROMOSOME Xp11.23-p11.22 DUPLICATION SYNDROME |
| 300578 | CHROMOSOME Xp11.3 DELETION SYNDROME |
| 300869 | CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME |
| 300475 | CHROMOSOME Xq28 DELETION SYNDROME |
| 300815 | CHROMOSOME Xq28 DUPLICATION SYNDROME |
| 259680 | CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS |
| 604213 | CHUDLEY-MCCULLOUGH SYNDROME |
| 246700 | CHYLOMICRON RETENTION DISEASE |
| 118830 | CHYLOMICRONEMIA, FAMILIAL, DUE TO CIRCULATING INHIBITOR OF LIPOPROTEIN LIPASE |
| 215518 | CILIARY DISCOORDINATION DUE TO RANDOM CILIARY ORIENTATION |
| 242670 | CILIARY DYSKINESIA WITH DEFECTIVE RADIAL SPOKES |
| 242680 | CILIARY DYSKINESIA WITH EXCESSIVELY LONG CILIA |
| 215520 | CILIARY DYSKINESIA WITH TRANSPOSITION OF CILIARY MICROTUBULES |
| 244400 | CILIARY DYSKINESIA, PRIMARY, 1 |
| 612518 | CILIARY DYSKINESIA, PRIMARY, 10 |
| 612649 | CILIARY DYSKINESIA, PRIMARY, 11 |
| 612650 | CILIARY DYSKINESIA, PRIMARY, 12 |
| 613193 | CILIARY DYSKINESIA, PRIMARY, 13 |
| 613807 | CILIARY DYSKINESIA, PRIMARY, 14 |
| 613808 | CILIARY DYSKINESIA, PRIMARY, 15 |
| 614017 | CILIARY DYSKINESIA, PRIMARY, 16 |
| 614679 | CILIARY DYSKINESIA, PRIMARY, 17 |
| 614874 | CILIARY DYSKINESIA, PRIMARY, 18 |
| 614935 | CILIARY DYSKINESIA, PRIMARY, 19 |
| 606763 | CILIARY DYSKINESIA, PRIMARY, 2 |
| 615067 | CILIARY DYSKINESIA, PRIMARY, 20 |
| 615294 | CILIARY DYSKINESIA, PRIMARY, 21 |
| 615444 | CILIARY DYSKINESIA, PRIMARY, 22 |
| 615451 | CILIARY DYSKINESIA, PRIMARY, 23 |
| 615481 | CILIARY DYSKINESIA, PRIMARY, 24 |
| 615482 | CILIARY DYSKINESIA, PRIMARY, 25 |
| 615500 | CILIARY DYSKINESIA, PRIMARY, 26 |
| 615504 | CILIARY DYSKINESIA, PRIMARY, 27 |
| 615505 | CILIARY DYSKINESIA, PRIMARY, 28 |
| 608644 | CILIARY DYSKINESIA, PRIMARY, 3 |
| 608647 | CILIARY DYSKINESIA, PRIMARY, 5 |
| 610852 | CILIARY DYSKINESIA, PRIMARY, 6 |
| 611884 | CILIARY DYSKINESIA, PRIMARY, 7 |
| 612444 | CILIARY DYSKINESIA, PRIMARY, 9 |
| 607115 | CINCA SYNDROME |
| 215550 | CIRCUMVALLATE PLACENTA SYNDROME |
| 118900 | CIRRHOSIS, FAMILIAL |
| 215600 | CIRRHOSIS, FAMILIAL |
| 215720 | CITRULLINE TRANSPORT DEFECT |
| 215700 | CITRULLINEMIA, CLASSIC |
| 603471 | CITRULLINEMIA, TYPE II, ADULT-ONSET |
| 605814 | CITRULLINEMIA, TYPE II, NEONATAL-ONSET |
| 300831 | CK SYNDROME |
| 300602 | CLARK-BARAITSER SYNDROME |
| 118980 | CLAVICLE, PSEUDARTHROSIS OF, CONGENITAL |
| 119000 | CLEFT CHIN |
| 215800 | CLEFT LARYNX, POSTERIOR |
| 216100 | CLEFT LIP/PALATE WITH ABNORMAL THUMBS AND MICROCEPHALY |
| 601165 | CLEFT LIP/PALATE WITH CHARACTERISTIC FACIES, INTESTINAL MALROTATION, AND LETHAL CONGENITAL HEART DISEASE |
| 225060 | CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME |
| 303400 | CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED |
| 600460 | CLEFT PALATE, CARDIAC DEFECT, GENITAL ANOMALIES, AND ECTRODACTYLY |
| 216300 | CLEFT PALATE, DEAFNESS, AND OLIGODONTIA |
| 119540 | CLEFT PALATE, ISOLATED |
| 119550 | CLEFT PALATE-LATERAL SYNECHIA SYNDROME |
| 119570 | CLEFT SOFT PALATE |
| 155145 | CLEFT, MEDIAN, OF UPPER LIP WITH POLYPS OF FACIAL SKIN AND NASAL MUCOSA |
| 215850 | CLEFT-LIMB-HEART MALFORMATION SYNDROME |
| 119600 | CLEIDOCRANIAL DYSPLASIA |
| 216340 | CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA |
| 216330 | CLEIDOCRANIAL DYSPLASIA, RECESSIVE FORM |
| 119650 | CLEIDORHIZOMELIC SYNDROME |
| 129500 | CLOUSTON SYNDROME |
| 119900 | CLUBBING OF DIGITS |
| 119800 | CLUBFOOT, CONGENITAL |
| 119915 | CLUSTER HEADACHE, FAMILIAL |
| 216360 | COACH SYNDROME |
| 300841 | COAGULATION FACTOR VIII |
| 613872 | COAGULATION FACTOR X |
| 120000 | COARCTATION OF AORTA |
| 300216 | COATS DISEASE |
| 120040 | COCHLEOSACCULAR DEGENERATION OF THE INNER EAR WITH PROGRESSIVE CATARACTS |
| 216400 | COCKAYNE SYNDROME A |
| 133540 | COCKAYNE SYNDROME B |
| 216411 | COCKAYNE SYNDROME, TYPE III |
| 613630 | COCOON SYNDROME |
| 600373 | CODAS SYNDROME |
| 607426 | COENZYME Q10 DEFICIENCY |
| 614651 | COENZYME Q10 DEFICIENCY, PRIMARY, 2 |
| 614652 | COENZYME Q10 DEFICIENCY, PRIMARY, 3 |
| 612016 | COENZYME Q10 DEFICIENCY, PRIMARY, 4 |
| 614654 | COENZYME Q10 DEFICIENCY, PRIMARY, 5 |
| 614650 | COENZYME Q10 DEFICIENCY, PRIMARY, 6 |
| 303600 | COFFIN-LOWRY SYNDROME |
| 135900 | COFFIN-SIRIS SYNDROME |
| 300082 | COGNITIVE FUNCTION 1, SOCIAL |
| 614306 | COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA |
| 216550 | COHEN SYNDROME |
| 272430 | COLD-INDUCED SWEATING SYNDROME 1 |
| 610313 | COLD-INDUCED SWEATING SYNDROME 2 |
| 615522 | COLE DISEASE |
| 120210 | COLLAGEN, TYPE IX, ALPHA-1 |
| 115250 | COLLAGENOMA, FAMILIAL CUTANEOUS |
| 216700 | COLLAGENOSIS, FAMILIAL REACTIVE PERFORATING |
| 609363 | COLLOID CYSTS OF THIRD VENTRICLE |
| 120300 | COLOBOMA OF MACULA |
| 216800 | COLOBOMA OF MACULA AND SKELETAL ANOMALIES |
| 120400 | COLOBOMA OF MACULA WITH TYPE B BRACHYDACTYLY |
| 120430 | COLOBOMA OF OPTIC NERVE |
| 280000 | COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME |
| 120200 | COLOBOMA, OCULAR |
| 216820 | COLOBOMA, OCULAR |
| 120433 | COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION |
| 601794 | COLOBOMA-OBESITY-HYPOGENITALISM-MENTAL RETARDATION SYNDROME |
| 303650 | COLONIC ATRESIA |
| 120440 | COLONIC VARICES WITHOUT PORTAL HYPERTENSION |
| 306250 | COLONY-STIMULATING FACTOR 2 RECEPTOR, ALPHA |
| 608456 | COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE |
| 114500 | COLORECTAL CANCER |
| 609310 | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2 |
| 614337 | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 |
| 614350 | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 |
| 614331 | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6 |
| 614385 | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7 |
| 613244 | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8 |
| 612591 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 |
| 615083 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 |
| 612229 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 |
| 233650 | COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS |
| 615182 | COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA |
| 312863 | COMBINED IMMUNODEFICIENCY, X-LINKED |
| 216920 | COMBINED INFLAMMATORY AND IMMUNOLOGIC DEFECT |
| 614265 | COMBINED MALONIC AND METHYLMALONIC ACIDURIA |
| 609060 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 |
| 614702 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 |
| 614922 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 |
| 614924 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 |
| 614932 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 |
| 614946 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 |
| 614947 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 |
| 615395 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 |
| 615440 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 |
| 615578 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 |
| 615595 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 |
| 610498 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2 |
| 610505 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 |
| 610678 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 |
| 611719 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 |
| 300816 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 |
| 613559 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 |
| 614096 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 |
| 614582 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 |
| 611721 | COMBINED SAPOSIN DEFICIENCY |
| 120450 | COMEDONES, FAMILIAL DYSKERATOTIC |
| 120500 | COMMISSURAL LIP PITS |
| 240500 | COMMON VARIABLE IMMUNODEFICIENCY |
| 217000 | COMPLEMENT COMPONENT 2 DEFICIENCY |
| 613779 | COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE |
| 120790 | COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF |
| 120810 | COMPLEMENT COMPONENT 4A |
| 614380 | COMPLEMENT COMPONENT 4A DEFICIENCY |
| 609536 | COMPLEMENT COMPONENT 5 DEFICIENCY |
| 217050 | COMPLEMENT COMPONENT 6 |
| 612446 | COMPLEMENT COMPONENT 6 DEFICIENCY |
| 610102 | COMPLEMENT COMPONENT 7 DEFICIENCY |
| 613790 | COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I |
| 613789 | COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II |
| 613825 | COMPLEMENT COMPONENT 9 DEFICIENCY |
| 216950 | COMPLEMENT COMPONENT C1r/C1s DEFICIENCY |
| 613783 | COMPLEMENT COMPONENT C1s DEFICIENCY |
| 613912 | COMPLEMENT FACTOR D DEFICIENCY |
| 609814 | COMPLEMENT FACTOR H DEFICIENCY |
| 217030 | COMPLEMENT FACTOR I |
| 610984 | COMPLEMENT FACTOR I DEFICIENCY |
| 516000 | COMPLEX I, SUBUNIT ND1 |
| 516001 | COMPLEX I, SUBUNIT ND2 |
| 516005 | COMPLEX I, SUBUNIT ND5 |
| 516006 | COMPLEX I, SUBUNIT ND6 |
| 516030 | COMPLEX IV, CYTOCHROME c OXIDASE SUBUNIT I |
| 602093 | CONE DYSTROPHY 3 |
| 613093 | CONE DYSTROPHY 4 |
| 304030 | CONE DYSTROPHY, X-LINKED, WITH TAPETAL-LIKE SHEEN |
| 600624 | CONE-ROD DYSTROPHY 1 |
| 610283 | CONE-ROD DYSTROPHY 10 |
| 610381 | CONE-ROD DYSTROPHY 11 |
| 612657 | CONE-ROD DYSTROPHY 12 |
| 608194 | CONE-ROD DYSTROPHY 13 |
| 613660 | CONE-ROD DYSTROPHY 15 |
| 614500 | CONE-ROD DYSTROPHY 16 |
| 615163 | CONE-ROD DYSTROPHY 17 |
| 615374 | CONE-ROD DYSTROPHY 18 |
| 120970 | CONE-ROD DYSTROPHY 2 |
| 604116 | CONE-ROD DYSTROPHY 3 |
| 600977 | CONE-ROD DYSTROPHY 5 |
| 601777 | CONE-ROD DYSTROPHY 6 |
| 603649 | CONE-ROD DYSTROPHY 7 |
| 605549 | CONE-ROD DYSTROPHY 8 |
| 612775 | CONE-ROD DYSTROPHY 9 |
| 304020 | CONE-ROD DYSTROPHY, X-LINKED, 1 |
| 300085 | CONE-ROD DYSTROPHY, X-LINKED, 2 |
| 300476 | CONE-ROD DYSTROPHY, X-LINKED, 3 |
| 610805 | CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, SUSCEPTIBILITY TO |
| 604168 | CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY |
| 614482 | CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION |
| 608484 | CONGENITAL CORNEAL OPACITIES, CORNEA GUTTATA, AND CORECTOPIA |
| 615273 | CONGENITAL DISORDER OF DEGLYCOSYLATION |
| 212067 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE I/IIx |
| 212065 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia |
| 602579 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib |
| 603147 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic |
| 601110 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id |
| 608799 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie |
| 609180 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If |
| 607143 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig |
| 608104 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih |
| 607906 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii |
| 212066 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa |
| 606056 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb |
| 266265 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc |
| 607091 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId |
| 608779 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe |
| 603585 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf |
| 611209 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg |
| 611182 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh |
| 613612 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi |
| 613489 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj |
| 614727 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk |
| 614576 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl |
| 300896 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm |
| 608093 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij |
| 608540 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik |
| 608776 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il |
| 610768 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im |
| 612015 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In |
| 612937 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Io |
| 613661 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip |
| 612379 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq |
| 614507 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir |
| 300884 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Is |
| 614921 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It |
| 615042 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu |
| 615596 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw |
| 615597 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix |
| 217085 | CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY |
| 308050 | CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS |
| 612918 | CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI |
| 217095 | CONOTRUNCAL HEART MALFORMATIONS |
| 217100 | CONSTRICTING BANDS, CONGENITAL |
| 217150 | CONTRACTURES, CONGENITAL, TORTICOLLIS, AND MALIGNANT HYPERTHERMIA |
| 602066 | CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS |
| 217200 | CONVULSIVE DISORDER, FAMILIAL, WITH PRENATAL OR EARLY ONSET |
| 121270 | COPPER DEFICIENCY, FAMILIAL BENIGN |
| 121300 | COPROPORPHYRIA, HEREDITARY |
| 121350 | CORACOCLAVICULAR JOINT, ANOMALOUS |
| 121390 | CORNEA GUTTATA WITH ANTERIOR POLAR CATARACTS |
| 121400 | CORNEA PLANA 1 |
| 217300 | CORNEA PLANA 2 |
| 217520 | CORNEAL DEGENERATION, BAND-SHAPED SPHEROID |
| 121450 | CORNEAL DEGENERATION, RIBBONLIKE, WITH DEAFNESS |
| 217400 | CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS |
| 608470 | CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE I |
| 602082 | CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE II |
| 607541 | CORNEAL DYSTROPHY, AVELLINO TYPE |
| 217500 | CORNEAL DYSTROPHY, BAND-SHAPED |
| 610048 | CORNEAL DYSTROPHY, CONGENITAL STROMAL |
| 121800 | CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER |
| 300779 | CORNEAL DYSTROPHY, ENDOTHELIAL, X-LINKED |
| 121820 | CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE |
| 121850 | CORNEAL DYSTROPHY, FLECK |
| 136800 | CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1 |
| 610158 | CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 2 |
| 613268 | CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 |
| 613270 | CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 |
| 615523 | CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8 |
| 204870 | CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE |
| 121900 | CORNEAL DYSTROPHY, GROENOUW TYPE I |
| 122100 | CORNEAL DYSTROPHY, JUVENILE EPITHELIAL, OF MEESMANN |
| 122200 | CORNEAL DYSTROPHY, LATTICE TYPE I |
| 608471 | CORNEAL DYSTROPHY, LATTICE TYPE IIIA |
| 300778 | CORNEAL DYSTROPHY, LISCH EPITHELIAL |
| 612868 | CORNEAL DYSTROPHY, POSTERIOR AMORPHOUS |
| 122000 | CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 |
| 609140 | CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2 |
| 609141 | CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3 |
| 612867 | CORNEAL DYSTROPHY, SUBEPITHELIAL MUCINOUS |
| 121700 | CORNEAL ENDOTHELIAL DYSTROPHY 1 |
| 217700 | CORNEAL ENDOTHELIAL DYSTROPHY 2 |
| 122400 | CORNEAL EROSIONS, RECURRING HEREDITARY |
| 122430 | CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS, UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION |
| 122450 | CORNEAL HYPESTHESIA, FAMILIAL |
| 615225 | CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA |
| 122470 | CORNELIA DE LANGE SYNDROME 1 |
| 300590 | CORNELIA DE LANGE SYNDROME 2 |
| 610759 | CORNELIA DE LANGE SYNDROME 3 |
| 614701 | CORNELIA DE LANGE SYNDROME 4 |
| 300882 | CORNELIA DE LANGE SYNDROME 5 |
| 122440 | CORNEODERMATOOSSEOUS SYNDROME |
| 610947 | CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 |
| 608320 | CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 |
| 122455 | CORONARY ARTERY DISSECTION, SPONTANEOUS |
| 122460 | CORONAVIRUS 229E SUSCEPTIBILITY |
| 217990 | CORPUS CALLOSUM, AGENESIS OF |
| 300004 | CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA |
| 217980 | CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE |
| 300472 | CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA |
| 304100 | CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED |
| 218010 | CORTICAL BLINDNESS, RETARDATION, AND POSTAXIAL POLYDACTYLY |
| 604922 | CORTICAL DEFECTS, WORMIAN BONES, AND DENTINOGENESIS IMPERFECTA |
| 614039 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS |
| 615282 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 |
| 615411 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 |
| 615412 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 |
| 615763 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 |
| 610042 | CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME |
| 614115 | CORTICAL MALFORMATIONS, OCCIPITAL |
| 611489 | CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY |
| 203400 | CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY |
| 610600 | CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY |
| 122560 | CORTICOTROPIN-RELEASING HORMONE |
| 604931 | CORTISONE REDUCTASE DEFICIENCY |
| 614662 | CORTISONE REDUCTASE DEFICIENCY 2 |
| 218040 | COSTELLO SYNDROME |
| 122580 | COSTOCORACOID LIGAMENT, CONGENITALLY SHORT |
| 122600 | COSTOVERTEBRAL SEGMENTATION ANOMALIES |
| 122700 | COUMARIN RESISTANCE |
| 260660 | COUSIN SYNDROME |
| 310490 | COWCHOCK SYNDROME |
| 158350 | COWDEN DISEASE |
| 612359 | COWDEN SYNDROME 2 |
| 122750 | COXA VARA |
| 122780 | COXOAURICULAR SYNDROME |
| 120050 | COXSACKIEVIRUS B3 SUSCEPTIBILITY |
| 218050 | CRAMPS, FAMILIAL ADOLESCENT |
| 218090 | CRANE-HEISE SYNDROME |
| 218100 | CRANIAL NERVES, CONGENITAL PARESIS OF |
| 218200 | CRANIAL NERVES, RECURRENT PARESIS OF |
| 122850 | CRANIOACROFACIAL SYNDROME |
| 218300 | CRANIODIAPHYSEAL DYSPLASIA |
| 122860 | CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT |
| 218330 | CRANIOECTODERMAL DYSPLASIA 1 |
| 613610 | CRANIOECTODERMAL DYSPLASIA 2 |
| 614099 | CRANIOECTODERMAL DYSPLASIA 3 |
| 614378 | CRANIOECTODERMAL DYSPLASIA 4 |
| 608227 | CRANIOFACIAL ABNORMALITIES, CATARACTS, CONGENITAL HEART DISEASE, SACRAL NEURAL TUBE DEFECTS, AND GROWTH AND DEVELOPMENTAL RETARDATION |
| 218340 | CRANIOFACIAL DYSMORPHISM WITH OCULAR COLOBOMA, ABSENT CORPUS CALLOSUM, AND AORTIC DILATATION |
| 614132 | CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME |
| 122900 | CRANIOFACIAL DYSOSTOSIS WITH DIAPHYSEAL HYPERPLASIA |
| 218350 | CRANIOFACIAL DYSSYNOSTOSIS WITH SHORT STATURE |
| 601707 | CRANIOFACIAL MALFORMATIONS, ASYMMETRIC, WITH POLYSYNDACTYLY AND ABNORMAL SKIN AND GUT DEVELOPMENT |
| 122880 | CRANIOFACIAL-DEAFNESS-HAND SYNDROME |
| 114620 | CRANIOFACIOFRONTODIGITAL SYNDROME |
| 300712 | CRANIOFACIOSKELETAL SYNDROME |
| 304110 | CRANIOFRONTONASAL SYNDROME |
| 607812 | CRANIOLENTICULOSUTURAL DYSPLASIA |
| 615118 | CRANIOMETADIAPHYSEAL DYSPLASIA |
| 123000 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT |
| 218400 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE |
| 602558 | CRANIOMICROMELIC SYNDROME |
| 123050 | CRANIORHINY |
| 218450 | CRANIOSTENOSIS, SAGITTAL, WITH CONGENITAL HEART DISEASE, MENTAL DEFICIENCY, AND MANDIBULAR ANKYLOSIS |
| 218500 | CRANIOSYNOSTOSIS |
| 123100 | CRANIOSYNOSTOSIS 1 |
| 604757 | CRANIOSYNOSTOSIS 2 |
| 615314 | CRANIOSYNOSTOSIS 3 |
| 600775 | CRANIOSYNOSTOSIS 4 |
| 615529 | CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO |
| 614188 | CRANIOSYNOSTOSIS AND DENTAL ANOMALIES |
| 218530 | CRANIOSYNOSTOSIS WITH ANOMALIES OF THE CRANIAL BASE AND DIGITS |
| 218550 | CRANIOSYNOSTOSIS WITH FIBULAR APLASIA |
| 608279 | CRANIOSYNOSTOSIS WITH OCULAR ABNORMALITIES AND HALLUCAL DEFECTS |
| 600593 | CRANIOSYNOSTOSIS, ADELAIDE TYPE |
| 608432 | CRANIOSYNOSTOSIS, CALCIFICATION OF BASAL GANGLIA, AND FACIAL DYSMORPHISM |
| 601222 | CRANIOSYNOSTOSIS, PHILADELPHIA TYPE |
| 123155 | CRANIOSYNOSTOSIS, SAGITTAL, WITH DANDY-WALKER MALFORMATION AND HYDROCEPHALUS |
| 218649 | CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG |
| 218650 | CRANIOSYNOSTOSIS-MENTAL RETARDATION-CLEFTING SYNDROME |
| 218670 | CRANIOTELENCEPHALIC DYSPLASIA |
| 602472 | CREASES, INFRA-AURICULAR CUTANEOUS, WITH TALL STATURE AND ADVANCED BONE AGE |
| 123270 | CREATINE KINASE, BRAIN TYPE, ECTOPIC EXPRESSION OF |
| 123320 | CREATINE PHOSPHOKINASE, ELEVATED SERUM |
| 606851 | CREE MENTAL RETARDATION SYNDROME |
| 123400 | CREUTZFELDT-JAKOB DISEASE |
| 123450 | CRI-DU-CHAT SYNDROME |
| 218800 | CRIGLER-NAJJAR SYNDROME |
| 606785 | CRIGLER-NAJJAR SYNDROME, TYPE II |
| 601378 | CRISPONI SYNDROME |
| 218900 | CROME SYNDROME |
| 123500 | CROUZON SYNDROME |
| 612247 | CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS |
| 123540 | CRYOFIBRINOGENEMIA, FAMILIAL PRIMARY |
| 123550 | CRYOGLOBULINEMIA, FAMILIAL MIXED |
| 608885 | CRYOHYDROCYTOSIS, STOMATIN-DEFICIENT, WITH MENTAL RETARDATION, SEIZURES, CATARACTS, AND MASSIVE HEPATOSPLENOMEGALY |
| 123560 | CRYPTOMICROTIA-BRACHYDACTYLY SYNDROME |
| 123570 | CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL, ISOLATED |
| 219050 | CRYPTORCHIDISM, UNILATERAL OR BILATERAL |
| 123557 | CRYPTOTIA, FAMILIAL |
| 123690 | CRYSTALLIN, GAMMA-D |
| 123740 | CRYSTALLIN, MU |
| 300471 | CUBITUS VALGUS WITH MENTAL RETARDATION AND UNUSUAL FACIES |
| 176450 | CURRARINO SYNDROME |
| 219070 | CURVED NAIL OF FOURTH TOE |
| 248910 | CUTANEOUS MASTOCYTOSIS, CONDUCTIVE HEARING LOSS AND MICROTIA |
| 219095 | CUTANEOUS PHOTOSENSITIVITY AND COLITIS, LETHAL |
| 614564 | CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL |
| 613177 | CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL, AND URINARY ABNORMALITIES |
| 123700 | CUTIS LAXA, AUTOSOMAL DOMINANT |
| 614434 | CUTIS LAXA, AUTOSOMAL DOMINANT 2 |
| 219100 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I |
| 614437 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB |
| 219200 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE II |
| 612940 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB |
| 219150 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA |
| 614438 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB |
| 614100 | CUTIS LAXA, NEONATAL, WITH MARFANOID PHENOTYPE |
| 219250 | CUTIS MARMORATA TELANGIECTATICA CONGENITA |
| 219300 | CUTIS VERTICIS GYRATA AND MENTAL DEFICIENCY |
| 605685 | CUTIS VERTICIS GYRATA, RETINITIS PIGMENTOSA, AND SENSORINEURAL DEAFNESS |
| 304200 | CUTIS VERTICIS GYRATA, THYROID APLASIA, AND MENTAL RETARDATION |
| 304300 | CYANIDE, INABILITY TO SMELL |
| 219400 | CYANOSIS AND HEPATIC DISEASE |
| 613977 | CYANOSIS, TRANSIENT NEONATAL |
| 162800 | CYCLIC HEMATOPOIESIS |
| 500007 | CYCLIC VOMITING SYNDROME |
| 168461 | CYCLIN D1 |
| 300203 | CYCLIN-DEPENDENT KINASE-LIKE 5 |
| 132700 | CYLINDROMATOSIS, FAMILIAL |
| 123853 | CYPRUS FACIAL NEUROMUSCULOSKELETAL SYNDROME |
| 613381 | CYSTATHIONINE BETA-SYNTHASE |
| 219500 | CYSTATHIONINURIA |
| 219550 | CYSTEINE PEPTIDURIA |
| 123880 | CYSTIC ANGIOMATOSIS OF BONE, DIFFUSE |
| 219600 | CYSTIC DISEASE OF LUNG |
| 219700 | CYSTIC FIBROSIS |
| 603855 | CYSTIC FIBROSIS MODIFIER 1 |
| 219721 | CYSTIC FIBROSIS WITH HELICOBACTER PYLORI GASTRITIS, MEGALOBLASTIC ANEMIA, AND MENTAL RETARDATION |
| 219730 | CYSTIC KIDNEY DISEASE WITH VENTRICULOMEGALY |
| 219750 | CYSTINOSIS, ADULT NONNEPHROPATHIC |
| 219900 | CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE |
| 219800 | CYSTINOSIS, NEPHROPATHIC |
| 220100 | CYSTINURIA |
| 516020 | CYTOCHROME b OF COMPLEX III |
| 516050 | CYTOCHROME c OXIDASE III |
| 108330 | CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1 |
| 124060 | CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 2 |
| 124020 | CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19 |
| 124030 | CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6 |
| 610049 | CYTOKINE-INDUCED PROTEIN, 29-KD |
| 123890 | CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4 |
| 609162 | CZECH DYSPLASIA |
| 600721 | D-2-HYDROXYGLUTARIC ACIDURIA |
| 613657 | D-2-HYDROXYGLUTARIC ACIDURIA 2 |
| 261515 | D-BIFUNCTIONAL PROTEIN DEFICIENCY |
| 220120 | D-GLYCERIC ACIDEMIA |
| 304340 | DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES |
| 220219 | DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, AND BRACHYTELEPHALANGY |
| 609222 | DANDY-WALKER MALFORMATION WITH OCCIPITAL CEPHALOCELE, AUTOSOMAL DOMINANT |
| 220220 | DANDY-WALKER MALFORMATION WITH POSTAXIAL POLYDACTYLY |
| 220200 | DANDY-WALKER SYNDROME |
| 220210 | DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT |
| 300257 | DANON DISEASE |
| 124100 | DANUBIAN ENDEMIC FAMILIAL NEPHROPATHY |
| 124200 | DARIER-WHITE DISEASE |
| 124300 | DARWINIAN TUBERCLE OF PINNA |
| 124400 | DARWINIAN TUBERCLE OF PINNA |
| 278800 | DE SANCTIS-CACCHIONE SYNDROME |
| 221200 | DEAFNESS AND MYOPIA |
| 125050 | DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA |
| 580000 | DEAFNESS, AMINOGLYCOSIDE-INDUCED |
| 124900 | DEAFNESS, AUTOSOMAL DOMINANT 1 |
| 601316 | DEAFNESS, AUTOSOMAL DOMINANT 10 |
| 601317 | DEAFNESS, AUTOSOMAL DOMINANT 11 |
| 601543 | DEAFNESS, AUTOSOMAL DOMINANT 12 |
| 601868 | DEAFNESS, AUTOSOMAL DOMINANT 13 |
| 602459 | DEAFNESS, AUTOSOMAL DOMINANT 15 |
| 603964 | DEAFNESS, AUTOSOMAL DOMINANT 16 |
| 603622 | DEAFNESS, AUTOSOMAL DOMINANT 17 |
| 604717 | DEAFNESS, AUTOSOMAL DOMINANT 20 |
| 606346 | DEAFNESS, AUTOSOMAL DOMINANT 22 |
| 605192 | DEAFNESS, AUTOSOMAL DOMINANT 23 |
| 605583 | DEAFNESS, AUTOSOMAL DOMINANT 25 |
| 608641 | DEAFNESS, AUTOSOMAL DOMINANT 28 |
| 600101 | DEAFNESS, AUTOSOMAL DOMINANT 2A |
| 612644 | DEAFNESS, AUTOSOMAL DOMINANT 2B |
| 614211 | DEAFNESS, AUTOSOMAL DOMINANT 33 |
| 606705 | DEAFNESS, AUTOSOMAL DOMINANT 36 |
| 605594 | DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1 |
| 601544 | DEAFNESS, AUTOSOMAL DOMINANT 3A |
| 612643 | DEAFNESS, AUTOSOMAL DOMINANT 3B |
| 600652 | DEAFNESS, AUTOSOMAL DOMINANT 4 |
| 608224 | DEAFNESS, AUTOSOMAL DOMINANT 41 |
| 607453 | DEAFNESS, AUTOSOMAL DOMINANT 44 |
| 607841 | DEAFNESS, AUTOSOMAL DOMINANT 48 |
| 608372 | DEAFNESS, AUTOSOMAL DOMINANT 49 |
| 614614 | DEAFNESS, AUTOSOMAL DOMINANT 4B |
| 600994 | DEAFNESS, AUTOSOMAL DOMINANT 5 |
| 613074 | DEAFNESS, AUTOSOMAL DOMINANT 50 |
| 613558 | DEAFNESS, AUTOSOMAL DOMINANT 51 |
| 607683 | DEAFNESS, AUTOSOMAL DOMINANT 52 |
| 615649 | DEAFNESS, AUTOSOMAL DOMINANT 54 |
| 615629 | DEAFNESS, AUTOSOMAL DOMINANT 56 |
| 615654 | DEAFNESS, AUTOSOMAL DOMINANT 58 |
| 600965 | DEAFNESS, AUTOSOMAL DOMINANT 6 |
| 614152 | DEAFNESS, AUTOSOMAL DOMINANT 64 |
| 601412 | DEAFNESS, AUTOSOMAL DOMINANT 7 |
| 601369 | DEAFNESS, AUTOSOMAL DOMINANT 9 |
| 601386 | DEAFNESS, AUTOSOMAL RECESSIVE 12 |
| 601869 | DEAFNESS, AUTOSOMAL RECESSIVE 15 |
| 603720 | DEAFNESS, AUTOSOMAL RECESSIVE 16 |
| 602092 | DEAFNESS, AUTOSOMAL RECESSIVE 18 |
| 614945 | DEAFNESS, AUTOSOMAL RECESSIVE 18B |
| 220290 | DEAFNESS, AUTOSOMAL RECESSIVE 1A |
| 612645 | DEAFNESS, AUTOSOMAL RECESSIVE 1B |
| 600060 | DEAFNESS, AUTOSOMAL RECESSIVE 2 |
| 604060 | DEAFNESS, AUTOSOMAL RECESSIVE 20 |
| 603629 | DEAFNESS, AUTOSOMAL RECESSIVE 21 |
| 607039 | DEAFNESS, AUTOSOMAL RECESSIVE 22 |
| 609533 | DEAFNESS, AUTOSOMAL RECESSIVE 23 |
| 611022 | DEAFNESS, AUTOSOMAL RECESSIVE 24 |
| 613285 | DEAFNESS, AUTOSOMAL RECESSIVE 25 |
| 609823 | DEAFNESS, AUTOSOMAL RECESSIVE 28 |
| 614035 | DEAFNESS, AUTOSOMAL RECESSIVE 29 |
| 600316 | DEAFNESS, AUTOSOMAL RECESSIVE 3 |
| 607101 | DEAFNESS, AUTOSOMAL RECESSIVE 30 |
| 607084 | DEAFNESS, AUTOSOMAL RECESSIVE 31 |
| 608565 | DEAFNESS, AUTOSOMAL RECESSIVE 35 |
| 609006 | DEAFNESS, AUTOSOMAL RECESSIVE 36 |
| 607821 | DEAFNESS, AUTOSOMAL RECESSIVE 37 |
| 608219 | DEAFNESS, AUTOSOMAL RECESSIVE 38 |
| 608265 | DEAFNESS, AUTOSOMAL RECESSIVE 39 |
| 600791 | DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT |
| 608264 | DEAFNESS, AUTOSOMAL RECESSIVE 40 |
| 609646 | DEAFNESS, AUTOSOMAL RECESSIVE 42 |
| 610154 | DEAFNESS, AUTOSOMAL RECESSIVE 44 |
| 609647 | DEAFNESS, AUTOSOMAL RECESSIVE 46 |
| 609439 | DEAFNESS, AUTOSOMAL RECESSIVE 48 |
| 610153 | DEAFNESS, AUTOSOMAL RECESSIVE 49 |
| 600792 | DEAFNESS, AUTOSOMAL RECESSIVE 5 |
| 609941 | DEAFNESS, AUTOSOMAL RECESSIVE 51 |
| 609706 | DEAFNESS, AUTOSOMAL RECESSIVE 53 |
| 610220 | DEAFNESS, AUTOSOMAL RECESSIVE 59 |
| 600971 | DEAFNESS, AUTOSOMAL RECESSIVE 6 |
| 613865 | DEAFNESS, AUTOSOMAL RECESSIVE 61 |
| 610143 | DEAFNESS, AUTOSOMAL RECESSIVE 62 |
| 611451 | DEAFNESS, AUTOSOMAL RECESSIVE 63 |
| 610248 | DEAFNESS, AUTOSOMAL RECESSIVE 65 |
| 610265 | DEAFNESS, AUTOSOMAL RECESSIVE 67 |
| 610419 | DEAFNESS, AUTOSOMAL RECESSIVE 68 |
| 600974 | DEAFNESS, AUTOSOMAL RECESSIVE 7 |
| 614934 | DEAFNESS, AUTOSOMAL RECESSIVE 70 |
| 611918 | DEAFNESS, AUTOSOMAL RECESSIVE 72 |
| 613718 | DEAFNESS, AUTOSOMAL RECESSIVE 74 |
| 615540 | DEAFNESS, AUTOSOMAL RECESSIVE 76 |
| 613079 | DEAFNESS, AUTOSOMAL RECESSIVE 77 |
| 613307 | DEAFNESS, AUTOSOMAL RECESSIVE 79 |
| 601072 | DEAFNESS, AUTOSOMAL RECESSIVE 8 |
| 614129 | DEAFNESS, AUTOSOMAL RECESSIVE 81 |
| 613557 | DEAFNESS, AUTOSOMAL RECESSIVE 82 |
| 613391 | DEAFNESS, AUTOSOMAL RECESSIVE 84 |
| 614944 | DEAFNESS, AUTOSOMAL RECESSIVE 84B |
| 614617 | DEAFNESS, AUTOSOMAL RECESSIVE 86 |
| 615429 | DEAFNESS, AUTOSOMAL RECESSIVE 88 |
| 613916 | DEAFNESS, AUTOSOMAL RECESSIVE 89 |
| 601071 | DEAFNESS, AUTOSOMAL RECESSIVE 9 |
| 613453 | DEAFNESS, AUTOSOMAL RECESSIVE 91 |
| 614899 | DEAFNESS, AUTOSOMAL RECESSIVE 93 |
| 614414 | DEAFNESS, AUTOSOMAL RECESSIVE 96 |
| 614861 | DEAFNESS, AUTOSOMAL RECESSIVE 98 |
| 300719 | DEAFNESS, CATARACT, RETINITIS PIGMENTOSA, AND SPERM ABNORMALITIES |
| 124490 | DEAFNESS, CONDUCTIVE STAPEDIAL, WITH EAR MALFORMATION AND FACIAL PALSY |
| 221300 | DEAFNESS, CONDUCTIVE, WITH MALFORMED EXTERNAL EAR |
| 221320 | DEAFNESS, CONDUCTIVE, WITH PTOSIS AND SKELETAL ANOMALIES |
| 220300 | DEAFNESS, CONGENITAL, AND FAMILIAL MYOCLONIC EPILEPSY |
| 124480 | DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT |
| 610706 | DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA |
| 124500 | DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOES |
| 220900 | DEAFNESS, CONGENITAL, WITH TOTAL ALBINISM |
| 221350 | DEAFNESS, CONGENITAL, WITH VITILIGO AND ACHALASIA |
| 124700 | DEAFNESS, MID-TONE NEURAL |
| 221400 | DEAFNESS, NERVE TYPE, WITH MESENTERIC DIVERTICULA OF SMALL BOWEL AND PROGRESSIVE SENSORY NEUROPATHY |
| 221500 | DEAFNESS, NEURAL, CONGENITAL MODERATE |
| 221700 | DEAFNESS, NEURAL, WITH ATYPICAL ATOPIC DERMATITIS |
| 500008 | DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL |
| 220500 | DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, AND MENTAL RETARDATION SYNDROME |
| 601449 | DEAFNESS, PROGRESSIVE, WITH STAPES FIXATION |
| 611102 | DEAFNESS, SENSORINEURAL, AND MALE INFERTILITY |
| 221745 | DEAFNESS, SENSORINEURAL, AUTOSOMAL-MITOCHONDRIAL TYPE |
| 124950 | DEAFNESS, SENSORINEURAL, WITH PERIPHERAL NEUROPATHY AND ARTERIAL DISEASE |
| 221750 | DEAFNESS, SENSORINEURAL, WITH PITUITARY DWARFISM |
| 125000 | DEAFNESS, UNILATERAL |
| 612097 | DEAFNESS, UNILATERAL, WITH DELAYED ENDOLYMPHATIC HYDROPS |
| 304500 | DEAFNESS, X-LINKED 1 |
| 304400 | DEAFNESS, X-LINKED 2 |
| 300030 | DEAFNESS, X-LINKED 3 |
| 300066 | DEAFNESS, X-LINKED 4 |
| 300614 | DEAFNESS, X-LINKED 5 |
| 300914 | DEAFNESS, X-LINKED 6 |
| 400043 | DEAFNESS, Y-LINKED 1 |
| 125230 | DEAFNESS-CRANIOFACIAL SYNDROME |
| 304350 | DEAFNESS-HYPOGONADISM SYNDROME |
| 221740 | DEAFNESS-OLIGODONTIA SYNDROME |
| 125260 | DEFECTIVE INTERFERING PARTICLE INDUCTION, CONTROL OF |
| 194380 | DEHYDRATED HEREDITARY STOMATOCYTOSIS |
| 603528 | DEHYDRATED HEREDITARY STOMATOCYTOSIS, PSEUDOHYPERKALEMIA, AND PERINATAL EDEMA |
| 147892 | DEIODINASE, IODOTHYRONINE, TYPE I |
| 400003 | DELETED IN AZOOSPERMIA |
| 120470 | DELETED IN COLORECTAL CARCINOMA |
| 125270 | DELTA-AMINOLEVULINATE DEHYDRATASE |
| 127750 | DEMENTIA, LEWY BODY |
| 125320 | DEMENTIA/PARKINSONISM WITH NON-ALZHEIMER AMYLOID PLAQUES |
| 614172 | DENDRITIC CELL, MONOCYTE, B LYMPHOCYTE, AND NATURAL KILLER LYMPHOCYTE DEFICIENCY |
| 614371 | DENGUE VIRUS, SUSCEPTIBILITY TO |
| 125280 | DENS EVAGINATUS |
| 125300 | DENS IN DENTE AND PALATAL INVAGINATIONS |
| 300009 | DENT DISEASE 1 |
| 300555 | DENT DISEASE 2 |
| 125370 | DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY |
| 125440 | DENTIN DYSPLASIA WITH SCLEROTIC BONES |
| 125400 | DENTIN DYSPLASIA, TYPE I |
| 125420 | DENTIN DYSPLASIA, TYPE II |
| 125485 | DENTIN SIALOPHOSPHOPROTEIN |
| 125490 | DENTINOGENESIS IMPERFECTA 1 |
| 125500 | DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III |
| 194080 | DENYS-DRASH SYNDROME |
| 125460 | DEOXYRIBOSE-5-PHOSPHATE ALDOLASE DEFICIENCY |
| 125530 | DERMAL RIDGES, NELSON SYNDROME |
| 125540 | DERMAL RIDGES, PATTERNLESS |
| 125550 | DERMAL RIDGES-OFF-THE-END |
| 601230 | DERMATITIS HERPETIFORMIS, FAMILIAL |
| 603165 | DERMATITIS, ATOPIC |
| 607907 | DERMATOFIBROSARCOMA PROTUBERANS |
| 125570 | DERMATOGLYPHICS--ARCH ON ANY DIGIT |
| 125590 | DERMATOGLYPHICS--FINGERPRINT PATTERN |
| 221780 | DERMATOGLYPHICS--HYPOTHENAR RADIAL ARCH |
| 221760 | DERMATOGLYPHICS--PALMAR TRIRADIUS d, ABSENCE OF |
| 221790 | DERMATOLEUKODYSTROPHY |
| 221810 | DERMATOOSTEOLYSIS, KIRGHIZIAN TYPE |
| 125595 | DERMATOPATHIA PIGMENTOSA RETICULARIS |
| 125600 | DERMATOSIS PAPULOSA NIGRA |
| 221800 | DERMOCHONDROCORNEAL DYSTROPHY |
| 125630 | DERMODISTORTIVE URTICARIA |
| 125635 | DERMOGRAPHISM, FAMILIAL |
| 600679 | DERMOID CYSTS, FAMILIAL FRONTONASAL |
| 304730 | DERMOIDS OF CORNEA |
| 125640 | DERMOODONTODYSPLASIA |
| 251450 | DESBUQUOIS DYSPLASIA |
| 135290 | DESMOID DISEASE, HEREDITARY |
| 602398 | DESMOSTEROLOSIS |
| 615612 | DEVELOPMENTAL DYSPLASIA OF THE HIP 2 |
| 221950 | DEXTROCARDIA WITH UNUSUAL FACIES AND MICROPHTHALMIA |
| 520000 | DIABETES AND DEAFNESS, MATERNALLY INHERITED |
| 125800 | DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL |
| 221995 | DIABETES INSIPIDUS, NEPHROGENIC, WITH MENTAL RETARDATION AND INTRACEREBRAL CALCIFICATION |
| 304800 | DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED |
| 125700 | DIABETES INSIPIDUS, NEUROHYPOPHYSEAL |
| 304900 | DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE |
| 222100 | DIABETES MELLITUS, INSULIN-DEPENDENT |
| 601942 | DIABETES MELLITUS, INSULIN-DEPENDENT, 10 |
| 601666 | DIABETES MELLITUS, INSULIN-DEPENDENT, 15 |
| 125852 | DIABETES MELLITUS, INSULIN-DEPENDENT, 2 |
| 612520 | DIABETES MELLITUS, INSULIN-DEPENDENT, 20 |
| 601941 | DIABETES MELLITUS, INSULIN-DEPENDENT, 6 |
| 610549 | DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS |
| 612227 | DIABETES MELLITUS, KETOSIS-PRONE |
| 610199 | DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM |
| 125853 | DIABETES MELLITUS, NONINSULIN-DEPENDENT |
| 606176 | DIABETES MELLITUS, PERMANENT NEONATAL |
| 609069 | DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS |
| 601410 | DIABETES MELLITUS, TRANSIENT NEONATAL, 1 |
| 610374 | DIABETES MELLITUS, TRANSIENT NEONATAL, 2 |
| 610582 | DIABETES MELLITUS, TRANSIENT NEONATAL, 3 |
| 222350 | DIAMINOPENTANURIA |
| 105650 | DIAMOND-BLACKFAN ANEMIA |
| 613309 | DIAMOND-BLACKFAN ANEMIA 10 |
| 614900 | DIAMOND-BLACKFAN ANEMIA 11 |
| 615550 | DIAMOND-BLACKFAN ANEMIA 12 |
| 610629 | DIAMOND-BLACKFAN ANEMIA 3 |
| 612527 | DIAMOND-BLACKFAN ANEMIA 4 |
| 612528 | DIAMOND-BLACKFAN ANEMIA 5 |
| 612561 | DIAMOND-BLACKFAN ANEMIA 6 |
| 612562 | DIAMOND-BLACKFAN ANEMIA 7 |
| 612563 | DIAMOND-BLACKFAN ANEMIA 8 |
| 613308 | DIAMOND-BLACKFAN ANEMIA 9 |
| 606164 | DIAMOND-BLACKFAN ANEMIA WITH MICROTIA AND CLEFT PALATE |
| 608022 | DIAPHANOSPONDYLODYSOSTOSIS |
| 601163 | DIAPHRAGMATIC DEFECTS, LIMB DEFICIENCIES, AND OSSIFICATION DEFECTS OF SKULL |
| 222400 | DIAPHRAGMATIC HERNIA 2 |
| 610187 | DIAPHRAGMATIC HERNIA 3 |
| 142340 | DIAPHRAGMATIC HERNIA, CONGENITAL |
| 112250 | DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA |
| 214700 | DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL |
| 251850 | DIARRHEA 2, WITH MICROVILLOUS ATROPHY |
| 270420 | DIARRHEA 3, SECRETORY SODIUM, CONGENITAL |
| 610370 | DIARRHEA 4, MALABSORPTIVE, CONGENITAL |
| 613217 | DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL |
| 614616 | DIARRHEA 6 |
| 612198 | DIASTASIS RECTI AND WEAKNESS OF THE LINEA ALBA |
| 125900 | DIASTEMA, DENTAL MEDIAL |
| 222500 | DIASTEMATOMYELIA |
| 222600 | DIASTROPHIC DYSPLASIA |
| 222690 | DIBASIC AMINO ACIDURIA I |
| 222730 | DICARBOXYLIC AMINOACIDURIA |
| 188400 | DIGEORGE SYNDROME |
| 601362 | DIGEORGE SYNDROME/VELOCARDIOFACIAL SYNDROME COMPLEX 2 |
| 606835 | DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL |
| 222760 | DIGITORENOCEREBRAL SYNDROME |
| 126050 | DIGITOTALAR DYSMORPHISM |
| 246900 | DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY |
| 222748 | DIHYDROPYRIMIDINASE DEFICIENCY |
| 274270 | DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY |
| 126070 | DILUTION, PIGMENTARY |
| 605850 | DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY |
| 126100 | DIMPLES, FACIAL |
| 179780 | DIPEPTIDASE 1 |
| 190340 | DISCOID FIBROMAS, FAMILIAL MULTIPLE |
| 126180 | DISCRIMINATION, TWO-POINT, REDUCTION IN |
| 601450 | DISLOCATION OF HIP, CONGENITAL, WITH HYPEREXTENSIBILITY OF FINGERS AND FACIAL DYSMORPHISM |
| 613571 | DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY |
| 223200 | DISORGANIZATION, MOUSE, HOMOLOG OF |
| 126190 | DISPROPORTIONATE SHORT STATURE WITH PTOSIS AND VALVULAR HEART LESIONS |
| 223300 | DISSEMINATED SCLEROSIS WITH NARCOLEPSY |
| 126250 | DISTAL OSTEOSCLEROSIS |
| 126300 | DISTICHIASIS |
| 126320 | DISTICHIASIS WITH CONGENITAL ANOMALIES OF THE HEART AND PERIPHERAL VASCULATURE |
| 223330 | DIVERTICULOSIS OF BOWEL, HERNIA, AND RETINAL DETACHMENT |
| 223320 | DIVERTICULOSIS, SMALL-INTESTINAL |
| 223340 | DK PHOCOMELIA SYNDROME |
| 600045 | DNA DAMAGE-BINDING PROTEIN 1 |
| 223350 | DOHLE BODIES AND LEUKEMIA |
| 222448 | DONNAI-BARROW SYNDROME |
| 246200 | DONOHUE SYNDROME |
| 223360 | DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL |
| 223380 | DOPAMINE BETA-HYDROXYLASE, PLASMA, THERMOLABILITY OF |
| 126500 | DOUBLE NAIL FOR FIFTH TOE |
| 300878 | DOUBLESEX- AND MAB3-RELATED TRANSCRIPTION FACTOR C1 |
| 126550 | DOUGHNUT LESIONS OF SKULL, FAMILIAL |
| 179850 | DOWLING-DEGOS DISEASE |
| 615327 | DOWLING-DEGOS DISEASE 2 |
| 615674 | DOWLING-DEGOS DISEASE 3 |
| 615696 | DOWLING-DEGOS DISEASE 4 |
| 190685 | DOWN SYNDROME |
| 126600 | DOYNE HONEYCOMB RETINAL DYSTROPHY |
| 607208 | DRAVET SYNDROME |
| 609535 | DRUG METABOLISM, POOR, CYP2C19-RELATED |
| 608902 | DRUG METABOLISM, POOR, CYP2D6-RELATED |
| 612666 | DUAL SERINE/THREONINE AND TYROSINE PROTEIN KINASE |
| 126800 | DUANE RETRACTION SYNDROME 1 |
| 604356 | DUANE RETRACTION SYNDROME 2 |
| 607323 | DUANE-RADIAL RAY SYNDROME |
| 237500 | DUBIN-JOHNSON SYNDROME |
| 223370 | DUBOWITZ SYNDROME |
| 223400 | DUODENAL ATRESIA |
| 126840 | DUODENAL ULCER DUE TO ANTRAL G-CELL HYPERFUNCTION |
| 126850 | DUODENAL ULCER, HYPERPEPSINOGENEMIC I |
| 126900 | DUPUYTREN CONTRACTURE |
| 613034 | DURSUN SYNDROME |
| 127200 | DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES |
| 126950 | DWARFISM WITH TALL VERTEBRAE |
| 600771 | DWARFISM, FAMILIAL, WITH MUSCLE SPASMS |
| 127100 | DWARFISM, LEVI TYPE |
| 223500 | DWARFISM, LOW-BIRTH-WEIGHT TYPE, WITH UNRESPONSIVENESS TO GROWTH HORMONE |
| 223540 | DWARFISM, MENTAL RETARDATION, AND EYE ABNORMALITY |
| 223550 | DWARFISM, PROPORTIONATE, WITH HIP DISLOCATION |
| 223800 | DYGGVE-MELCHIOR-CLAUSEN DISEASE |
| 304950 | DYGGVE-MELCHIOR-CLAUSEN SYNDROME, X-LINKED |
| 224000 | DYSAUTONOMIA-LIKE DISORDER |
| 127350 | DYSCHONDROSTEOSIS AND NEPHRITIS |
| 127400 | DYSCHROMATOSIS SYMMETRICA HEREDITARIA |
| 127500 | DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1 |
| 615402 | DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 |
| 603529 | DYSERYTHROPOIESIS, CONGENITAL, WITH INTERNUCLEAR CHROMATIN BRIDGES AND ULTRASTRUCTURALLY NORMAL ERYTHROBLAST HETEROCHROMATIN |
| 300367 | DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA |
| 127550 | DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1 |
| 613989 | DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2 |
| 613990 | DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 |
| 224230 | DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 1 |
| 613987 | DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 2 |
| 613988 | DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3 |
| 615190 | DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 5 |
| 305000 | DYSKERATOSIS CONGENITA, X-LINKED |
| 127600 | DYSKERATOSIS, HEREDITARY BENIGN INTRAEPITHELIAL |
| 606703 | DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA |
| 127700 | DYSLEXIA, SUSCEPTIBILITY TO, 1 |
| 600202 | DYSLEXIA, SUSCEPTIBILITY TO, 2 |
| 608995 | DYSLEXIA, SUSCEPTIBILITY TO, 8 |
| 224250 | DYSMYELINATION WITH JAUNDICE |
| 224300 | DYSOSTEOSCLEROSIS |
| 600117 | DYSPHASIA, FAMILIAL DEVELOPMENTAL |
| 127800 | DYSPLASIA EPIPHYSEALIS HEMIMELICA |
| 127820 | DYSPLASIA EPIPHYSEALIS HEMIMELICA WITH CHONDROMAS AND OSTEOCHONDROMAS |
| 601561 | DYSSEGMENTAL DYSPLASIA WITH GLAUCOMA |
| 224400 | DYSSEGMENTAL DYSPLASIA, ROLLAND-DESBUQUOIS TYPE |
| 224410 | DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE |
| 128000 | DYSTELEPHALANGY |
| 128100 | DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT |
| 128235 | DYSTONIA 12 |
| 607671 | DYSTONIA 13, TORSION |
| 607488 | DYSTONIA 15, MYOCLONIC |
| 612067 | DYSTONIA 16 |
| 612406 | DYSTONIA 17, TORSION, AUTOSOMAL RECESSIVE |
| 612126 | DYSTONIA 18 |
| 224500 | DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE |
| 614588 | DYSTONIA 21 |
| 614860 | DYSTONIA 23 |
| 615034 | DYSTONIA 24 |
| 615073 | DYSTONIA 25 |
| 314250 | DYSTONIA 3, TORSION, X-LINKED |
| 128101 | DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT |
| 602629 | DYSTONIA 6, TORSION |
| 602124 | DYSTONIA 7, TORSION |
| 611694 | DYSTONIA WITH CEREBELLAR ATROPHY |
| 224550 | DYSTONIA WITH RINGBINDEN |
| 128230 | DYSTONIA, DOPA-RESPONSIVE |
| 612716 | DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY |
| 611284 | DYSTONIA, FOCAL, TASK-SPECIFIC |
| 607371 | DYSTONIA, JUVENILE-ONSET |
| 612953 | DYSTONIA-PARKINSONISM, ADULT-ONSET |
| 145680 | DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA |
| 160900 | DYSTROPHIA MYOTONICA 1 |
| 602668 | DYSTROPHIA MYOTONICA 2 |
| 128290 | EAR ANTITRAGUS, TAG AT BASE OF |
| 128300 | EAR EXOSTOSES |
| 128400 | EAR FLARE |
| 128500 | EAR FOLDING |
| 128600 | EAR MALFORMATION |
| 128710 | EAR PITS, POSTERIOR HELICAL |
| 128800 | EAR WITHOUT HELIX |
| 128900 | EARLOBE ATTACHMENT, ATTACHED VS UNATTACHED |
| 128950 | EARLOBE CREASE |
| 128980 | EARLOBES, THICKENED, WITH CONDUCTIVE DEAFNESS FROM INCUDOSTAPEDIAL ABNORMALITIES |
| 613601 | EARLY REPOLARIZATION ASSOCIATED WITH VENTRICULAR FIBRILLATION |
| 129000 | EARRING HOLES, NATURAL |
| 129100 | EARS, ABILITY TO MOVE |
| 224700 | EBSTEIN ANOMALY |
| 129150 | ECHO VIRUS 11 SENSITIVITY |
| 165215 | ECOTROPIC VIRAL INTEGRATION SITE 1 |
| 305100 | ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED |
| 129490 | ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT |
| 224900 | ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE |
| 614940 | ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT |
| 614941 | ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE |
| 602032 | ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE |
| 614927 | ECTODERMAL DYSPLASIA 5, HAIR/NAIL TYPE |
| 614928 | ECTODERMAL DYSPLASIA 6, HAIR/NAIL TYPE |
| 614929 | ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE |
| 602401 | ECTODERMAL DYSPLASIA 8, HAIR/TOOTH/NAIL TYPE |
| 614931 | ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE |
| 224800 | ECTODERMAL DYSPLASIA AND NEUROSENSORY DEAFNESS |
| 129540 | ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE AND PREAXIAL POLYDACTYLY OF FEET |
| 129550 | ECTODERMAL DYSPLASIA WITH ADRENAL CYST |
| 600906 | ECTODERMAL DYSPLASIA WITH MENTAL RETARDATION AND SYNDACTYLY |
| 601345 | ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE |
| 300301 | ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS, AND LYMPHEDEMA |
| 612132 | ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT |
| 601375 | ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE |
| 225040 | ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND AGENESIS OF THE CORPUS CALLOSUM |
| 225050 | ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND CILIARY DYSKINESIA |
| 300291 | ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY |
| 609944 | ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVE FACIAL FEATURES |
| 129510 | ECTODERMAL DYSPLASIA, TRICHOODONTOONYCHIAL TYPE |
| 613573 | ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 |
| 613576 | ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 |
| 604536 | ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME |
| 129600 | ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT |
| 225100 | ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE |
| 225200 | ECTOPIA LENTIS ET PUPILLAE |
| 601552 | ECTOPIA LENTIS, SPONTANEOUS FILTERING BLEBS, AND CRANIOFACIAL DYSMORPHISM |
| 129750 | ECTOPIA PUPILLAE |
| 129810 | ECTRODACTYLY AND ECTODERMAL DYSPLASIA WITHOUT CLEFT LIP/PALATE |
| 601348 | ECTRODACTYLY OF LOWER LIMBS, CONGENITAL HEART DEFECT, AND MICROGNATHIA |
| 129900 | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1 |
| 604292 | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 |
| 129830 | ECTRODACTYLY-CLEFT PALATE SYNDROME |
| 225290 | ECTRODACTYLY-POLYDACTYLY |
| 129840 | EDEMA, FAMILIAL IDIOPATHIC, PREPUBERTAL |
| 614303 | EDICT SYNDROME |
| 129850 | EDINBURGH MALFORMATION SYNDROME |
| 225280 | EEM SYNDROME |
| 225310 | EHLERS-DANLOS SYNDROME WITH PLATELET DYSFUNCTION FROM FIBRONECTIN ABNORMALITY |
| 614557 | EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS |
| 130090 | EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED |
| 225320 | EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM |
| 608763 | EHLERS-DANLOS SYNDROME, BEASLEY-COHEN TYPE |
| 615539 | EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2 |
| 130070 | EHLERS-DANLOS SYNDROME, PROGEROID FORM |
| 615349 | EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 |
| 130000 | EHLERS-DANLOS SYNDROME, TYPE I |
| 130010 | EHLERS-DANLOS SYNDROME, TYPE II |
| 130020 | EHLERS-DANLOS SYNDROME, TYPE III |
| 130050 | EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT |
| 305200 | EHLERS-DANLOS SYNDROME, TYPE V |
| 225400 | EHLERS-DANLOS SYNDROME, TYPE VI |
| 130060 | EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT |
| 225410 | EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE |
| 130080 | EHLERS-DANLOS SYNDROME, TYPE VIII |
| 606408 | EHLERS-DANLOS-LIKE SYNDROME DUE TO TENASCIN-X DEFICIENCY |
| 600002 | EIKEN SKELETAL DYSPLASIA |
| 130100 | ELASTOSIS PERFORANS SERPIGINOSA |
| 130180 | ELECTROENCEPHALOGRAM, LOW-VOLTAGE |
| 130190 | ELECTROENCEPHALOGRAPHIC PATTERNS |
| 130200 | ELECTROENCEPHALOGRAPHIC PECULIARITY: 14 AND 6 PER SEC. POSITIVE SPIKE PHENOMENON |
| 130300 | ELECTROENCEPHALOGRAPHIC PECULIARITY: FRONTO-PRECENTRAL BETA WAVE GROUPS |
| 130400 | ELECTROENCEPHALOGRAPHIC PECULIARITY: OCCIPITAL SLOW BETA WAVES |
| 256710 | ELEJALDE DISEASE |
| 311040 | ELK1, MEMBER OF ETS ONCOGENE FAMILY |
| 611804 | ELLIPTOCYTOSIS 1 |
| 130600 | ELLIPTOCYTOSIS 2 |
| 225450 | ELLIPTOCYTOSIS, ATYPICAL |
| 225500 | ELLIS-VAN CREVELD SYNDROME |
| 609029 | EMANUEL SYNDROME |
| 310300 | EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED |
| 181350 | EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT |
| 612998 | EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT |
| 612999 | EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT |
| 614302 | EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT |
| 604929 | EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE |
| 130710 | EMPHYSEMA, CONGENITAL LOBAR |
| 130700 | EMPHYSEMA, HEREDITARY PULMONARY |
| 600907 | ENAMEL HYPOPLASIA, CATARACTS, AND AQUEDUCTAL STENOSIS |
| 204690 | ENAMEL-RENAL SYNDROME |
| 225790 | ENCEPHALOCLASTIC PROLIFERATIVE VASCULOPATHY |
| 613001 | ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS |
| 225700 | ENCEPHALOMALACIA, MULTILOCULAR |
| 614520 | ENCEPHALOMYOPATHY, MITOCHONDRIAL, DUE TO VOLTAGE-DEPENDENT ANION CHANNEL DEFICIENCY |
| 225755 | ENCEPHALOPATHY WITH INTRACRANIAL CALCIFICATION, GROWTH HORMONE DEFICIENCY, MICROCEPHALY, AND RETINAL DEGENERATION |
| 608033 | ENCEPHALOPATHY, ACUTE NECROTIZING 1, SUSCEPTIBILITY TO |
| 614212 | ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO |
| 225740 | ENCEPHALOPATHY, AXONAL, WITH NECROTIZING MYOPATHY, CARDIOMYOPATHY, AND CATARACTS |
| 602473 | ENCEPHALOPATHY, ETHYLMALONIC |
| 604218 | ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES |
| 614388 | ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION |
| 300673 | ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS |
| 130950 | ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD |
| 166000 | ENCHONDROMATOSIS, MULTIPLE |
| 226000 | ENDOCARDIAL FIBROELASTOSIS |
| 305300 | ENDOCARDIAL FIBROELASTOSIS |
| 226100 | ENDOCARDIAL FIBROELASTOSIS AND COARCTATION OF ABDOMINAL AORTA |
| 612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA |
| 608089 | ENDOMETRIAL CANCER |
| 131200 | ENDOMETRIOSIS, SUSCEPTIBILITY TO, 1 |
| 603034 | ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY |
| 268100 | ENHANCED S-CONE SYNDROME |
| 131370 | ENOLASE 3 |
| 226150 | ENTEROCOLITIS |
| 226200 | ENTEROKINASE DEFICIENCY |
| 600351 | ENTEROPATHY, FAMILIAL, WITH VILLOUS EDEMA AND IMMUNOGLOBULIN G2 DEFICIENCY |
| 226300 | ENTEROPATHY, PROTEIN-LOSING |
| 600631 | ENURESIS, NOCTURNAL, 1 |
| 600808 | ENURESIS, NOCTURNAL, 2 |
| 261500 | EOSINOPHIL PEROXIDASE DEFICIENCY |
| 131400 | EOSINOPHILIA, FAMILIAL |
| 226350 | EOSINOPHILIC FASCIITIS |
| 131430 | EOSINOPHILOPENIA |
| 131445 | EPENDYMOMA |
| 131450 | EPIBLEPHARON OF LOWER LID |
| 131460 | EPIBLEPHARON OF UPPER LID |
| 131500 | EPICANTHUS |
| 131550 | EPIDERMAL GROWTH FACTOR RECEPTOR |
| 226400 | EPIDERMODYSPLASIA VERRUCIFORMIS |
| 305350 | EPIDERMODYSPLASIA VERRUCIFORMIS, X-LINKED |
| 131600 | EPIDERMOID CYSTS |
| 226500 | EPIDERMOLYSIS BULLOSA DYSTROPHICA NEUROTROPHICA |
| 131750 | EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT |
| 226600 | EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE |
| 131850 | EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL |
| 226730 | EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA |
| 604129 | EPIDERMOLYSIS BULLOSA PRURIGINOSA |
| 607600 | EPIDERMOLYSIS BULLOSA SIMPLEX SUPERFICIALIS |
| 609352 | EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA |
| 131960 | EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION |
| 226670 | EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY |
| 612138 | EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA |
| 601001 | EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE |
| 615425 | EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 |
| 131760 | EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE |
| 131900 | EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED |
| 131800 | EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED |
| 131950 | EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE |
| 132000 | EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS |
| 131880 | EPIDERMOLYSIS BULLOSA WITH DEFICIENCY OF GALACTOSYLHYDROXYLYSYL GLUCOSYLTRANSFERASE |
| 226735 | EPIDERMOLYSIS BULLOSA WITH DIAPHRAGMATIC HERNIA |
| 226700 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE |
| 226650 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE |
| 226440 | EPIDERMOLYSIS BULLOSA, LATE-ONSET LOCALIZED JUNCTIONAL, WITH MENTAL RETARDATION |
| 609638 | EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC |
| 615028 | EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE |
| 226810 | EPILEPSY WITH BILATERAL OCCIPITAL CALCIFICATIONS |
| 607628 | EPILEPSY WITH GRAND MAL SEIZURES ON AWAKENING |
| 613971 | EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS |
| 121200 | EPILEPSY, BENIGN NEONATAL, 1 |
| 132090 | EPILEPSY, BENIGN OCCIPITAL |
| 612269 | EPILEPSY, CHILDHOOD ABSENCE, 5 |
| 600131 | EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 1 |
| 607681 | EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 |
| 607876 | EPILEPSY, FAMILIAL ADULT MYOCLONIC 2 |
| 601068 | EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1 |
| 613608 | EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3 |
| 615127 | EPILEPSY, FAMILIAL ADULT MYOCLONIC, 4 |
| 615400 | EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5 |
| 604364 | EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI |
| 611630 | EPILEPSY, FAMILIAL MESIAL TEMPORAL LOBE |
| 608096 | EPILEPSY, FAMILIAL TEMPORAL LOBE |
| 600512 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 |
| 611631 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 4 |
| 614417 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 5 |
| 245570 | EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION |
| 613339 | EPILEPSY, HOT WATER, 1 |
| 600669 | EPILEPSY, IDIOPATHIC GENERALIZED |
| 613060 | EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10 |
| 614847 | EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 |
| 608762 | EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 3 |
| 604827 | EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 7 |
| 607682 | EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 |
| 607631 | EPILEPSY, JUVENILE ABSENCE |
| 606904 | EPILEPSY, JUVENILE MYOCLONIC |
| 614280 | EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 9 |
| 254770 | EPILEPSY, MYOCLONIC JUVENILE |
| 600513 | EPILEPSY, NOCTURNAL FRONTAL LOBE, 1 |
| 603204 | EPILEPSY, NOCTURNAL FRONTAL LOBE, 2 |
| 605375 | EPILEPSY, NOCTURNAL FRONTAL LOBE, 3 |
| 610353 | EPILEPSY, NOCTURNAL FRONTAL LOBE, 4 |
| 615005 | EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 |
| 132100 | EPILEPSY, PHOTOGENIC |
| 226800 | EPILEPSY, PHOTOGENIC, WITH SPASTIC DIPLEGIA AND MENTAL RETARDATION |
| 612437 | EPILEPSY, PROGRESSIVE MYOCLONIC 1B |
| 611726 | EPILEPSY, PROGRESSIVE MYOCLONIC 3 |
| 254900 | EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE |
| 613832 | EPILEPSY, PROGRESSIVE MYOCLONIC 5 |
| 614018 | EPILEPSY, PROGRESSIVE MYOCLONIC 6 |
| 266100 | EPILEPSY, PYRIDOXINE-DEPENDENT |
| 132300 | EPILEPSY, READING |
| 608105 | EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER'S CRAMP |
| 300491 | EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS |
| 226850 | EPILEPSY-TELANGIECTASIA |
| 615369 | EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET |
| 308350 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 |
| 613402 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10 |
| 613721 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 |
| 613722 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 |
| 614558 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 |
| 614959 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 |
| 615006 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15 |
| 615338 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 |
| 615473 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17 |
| 615476 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18 |
| 615744 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19 |
| 300672 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 |
| 609304 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3 |
| 612164 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4 |
| 613477 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 |
| 613720 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 |
| 300607 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8 |
| 300088 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9 |
| 606369 | EPILEPTIC ENCEPHALOPATHY, LENNOX-GASTAUT TYPE |
| 226950 | EPIPHYSEAL DYSPLASIA OF FEMORAL HEAD, MYOPIA, AND DEAFNESS |
| 610797 | EPIPHYSEAL DYSPLASIA, BAUMANN TYPE |
| 226960 | EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS |
| 132400 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 |
| 600204 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 2 |
| 600969 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 3 |
| 226900 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 |
| 607078 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 |
| 614135 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 |
| 226980 | EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS |
| 609325 | EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MINIEPIPHYSES |
| 132450 | EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS |
| 609324 | EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH SEVERE PROXIMAL FEMORAL DYSPLASIA |
| 160120 | EPISODIC ATAXIA, TYPE 1 |
| 108500 | EPISODIC ATAXIA, TYPE 2 |
| 606554 | EPISODIC ATAXIA, TYPE 3 |
| 606552 | EPISODIC ATAXIA, TYPE 4 |
| 613855 | EPISODIC ATAXIA, TYPE 5 |
| 612656 | EPISODIC ATAXIA, TYPE 6 |
| 611907 | EPISODIC ATAXIA, TYPE 7 |
| 128200 | EPISODIC KINESIGENIC DYSKINESIA 1 |
| 611031 | EPISODIC KINESIGENIC DYSKINESIA 2 |
| 300211 | EPISODIC MUSCLE WEAKNESS, X-LINKED |
| 615040 | EPISODIC PAIN SYNDROME, FAMILIAL, 1 |
| 615551 | EPISODIC PAIN SYNDROME, FAMILIAL, 2 |
| 615552 | EPISODIC PAIN SYNDROME, FAMILIAL, 3 |
| 132500 | EPISTAXIS, HEREDITARY |
| 132810 | EPOXIDE HYDROLASE 1, MICROSOMAL |
| 300872 | EPSILON-TRIMETHYLLYSINE HYDROXYLASE DEFICIENCY |
| 153650 | EPSTEIN SYNDROME |
| 226990 | EPSTEIN-BARR VIRUS, SUSCEPTIBILITY TO CHRONIC INFECTION BY |
| 227010 | ERMINE PHENOTYPE |
| 132990 | ERYTHEMA NODOSUM, FAMILIAL |
| 227000 | ERYTHEMA OF ACRAL REGIONS |
| 133000 | ERYTHEMA PALMARE HEREDITARIUM |
| 133020 | ERYTHERMALGIA, PRIMARY |
| 245340 | ERYTHROCYTE LACTATE TRANSPORTER DEFECT |
| 133100 | ERYTHROCYTOSIS, FAMILIAL, 1 |
| 263400 | ERYTHROCYTOSIS, FAMILIAL, 2 |
| 609820 | ERYTHROCYTOSIS, FAMILIAL, 3 |
| 611783 | ERYTHROCYTOSIS, FAMILIAL, 4 |
| 615508 | ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE |
| 609165 | ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR |
| 227090 | ERYTHRODERMA, LETHAL CONGENITAL |
| 609313 | ERYTHROKERATODERMIA VARIABILIS 3 |
| 133200 | ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA |
| 133190 | ERYTHROKERATODERMIA WITH ATAXIA |
| 133239 | ESOPHAGEAL CANCER |
| 133240 | ESOPHAGEAL RING, LOWER |
| 610247 | ESOPHAGITIS, EOSINOPHILIC |
| 613412 | ESOPHAGITIS, EOSINOPHILIC, 2 |
| 615363 | ESTROGEN RESISTANCE |
| 227150 | ETHANOLAMINOSIS |
| 600541 | ETS VARIANT GENE 1 |
| 600618 | ETS VARIANT GENE 6 |
| 227200 | EUNUCHOIDISM, FAMILIAL HYPOGONADOTROPIC |
| 607261 | EVC2 GENE |
| 612219 | EWING SARCOMA |
| 133500 | EXCHONDROSIS OF PINNA, POSTERIOR |
| 177650 | EXFOLIATION SYNDROME |
| 607936 | EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE |
| 612714 | EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS |
| 133600 | EXOSTOSES OF HEEL |
| 133690 | EXOSTOSES WITH ANETODERMIA AND BRACHYDACTYLY, TYPE E |
| 133700 | EXOSTOSES, MULTIPLE, TYPE I |
| 133701 | EXOSTOSES, MULTIPLE, TYPE II |
| 600209 | EXOSTOSES, MULTIPLE, TYPE III |
| 608177 | EXOSTOSIN 1 |
| 600057 | EXSTROPHY OF BLADDER |
| 133705 | EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICAL TALUS |
| 133750 | EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATION AND MICROCEPHALY |
| 133780 | EXUDATIVE VITREORETINOPATHY 1 |
| 305390 | EXUDATIVE VITREORETINOPATHY 2, X-LINKED |
| 601813 | EXUDATIVE VITREORETINOPATHY 4 |
| 613310 | EXUDATIVE VITREORETINOPATHY 5 |
| 133800 | EYEBROW, WHORL IN |
| 227210 | EYEBROWS, DUPLICATION OF, WITH STRETCHABLE SKIN AND SYNDACTYLY |
| 301500 | FABRY DISEASE |
| 227250 | FACIAL ABNORMALITIES, KYPHOSCOLIOSIS, AND MENTAL RETARDATION |
| 600251 | FACIAL CLEFTING, OBLIQUE, 1 |
| 227255 | FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS |
| 615139 | FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE |
| 227260 | FACIAL ECTODERMAL DYSPLASIA |
| 134000 | FACIAL HYPERTRICHOSIS |
| 134200 | FACIAL PALSY, FAMILIAL RECURRENT PERIPHERAL |
| 601471 | FACIAL PARESIS, HEREDITARY CONGENITAL, 1 |
| 604185 | FACIAL PARESIS, HEREDITARY CONGENITAL, 2 |
| 614744 | FACIAL PARESIS, HEREDITARY CONGENITAL, 3 |
| 134300 | FACIAL SPASM |
| 227270 | FACIOCARDIOMELIC DYSPLASIA, LETHAL |
| 612731 | FACIOCARDIOMELIC SYNDROME |
| 227280 | FACIOCARDIORENAL SYNDROME |
| 227330 | FACIODIGITOGENITAL SYNDROME, AUTOSOMAL RECESSIVE |
| 158900 | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 |
| 158901 | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B |
| 227320 | FACIOTHORACOGENITAL SYNDROME |
| 134540 | FACTOR IX AND FACTOR XI, COMBINED DEFICIENCY OF |
| 227300 | FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF |
| 613625 | FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 |
| 227310 | FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, WITH NORMAL PROTEIN C AND PROTEIN C INHIBITOR |
| 227400 | FACTOR V DEFICIENCY |
| 134400 | FACTOR V EXCESS WITH SPONTANEOUS THROMBOSIS |
| 134430 | FACTOR VII AND FACTOR VIII, COMBINED DEFICIENCY OF |
| 227500 | FACTOR VII DEFICIENCY |
| 134510 | FACTOR VIII AND FACTOR IX, COMBINED DEFICIENCY OF |
| 134500 | FACTOR VIII DEFICIENCY |
| 305424 | FACTOR VIII-ASSOCIATED GENE 2 |
| 227600 | FACTOR X DEFICIENCY |
| 612416 | FACTOR XI DEFICIENCY |
| 234000 | FACTOR XII DEFICIENCY |
| 613225 | FACTOR XIII, A SUBUNIT, DEFICIENCY OF |
| 613235 | FACTOR XIII, B SUBUNIT, DEFICIENCY OF |
| 134520 | FACTORS VIII, IX AND XI, COMBINED DEFICIENCY OF |
| 125350 | FAILURE OF TOOTH ERUPTION, PRIMARY |
| 601127 | FALLOT COMPLEX WITH SEVERE MENTAL AND GROWTH RETARDATION |
| 120100 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 |
| 611762 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2 |
| 614468 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 |
| 174810 | FAMILIAL EXPANSILE OSTEOLYSIS |
| 249100 | FAMILIAL MEDITERRANEAN FEVER |
| 134610 | FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT |
| 613897 | FANCF GENE |
| 602956 | FANCG GENE |
| 608111 | FANCL GENE |
| 609644 | FANCM GENE |
| 227650 | FANCONI ANEMIA |
| 300514 | FANCONI ANEMIA, COMPLEMENTATION GROUP B |
| 227645 | FANCONI ANEMIA, COMPLEMENTATION GROUP C |
| 605724 | FANCONI ANEMIA, COMPLEMENTATION GROUP D1 |
| 227646 | FANCONI ANEMIA, COMPLEMENTATION GROUP D2 |
| 600901 | FANCONI ANEMIA, COMPLEMENTATION GROUP E |
| 603467 | FANCONI ANEMIA, COMPLEMENTATION GROUP F |
| 614082 | FANCONI ANEMIA, COMPLEMENTATION GROUP G |
| 609053 | FANCONI ANEMIA, COMPLEMENTATION GROUP I |
| 609054 | FANCONI ANEMIA, COMPLEMENTATION GROUP J |
| 614083 | FANCONI ANEMIA, COMPLEMENTATION GROUP L |
| 614087 | FANCONI ANEMIA, COMPLEMENTATION GROUP M |
| 610832 | FANCONI ANEMIA, COMPLEMENTATION GROUP N |
| 613390 | FANCONI ANEMIA, COMPLEMENTATION GROUP O |
| 613951 | FANCONI ANEMIA, COMPLEMENTATION GROUP P |
| 615272 | FANCONI ANEMIA, COMPLEMENTATION GROUP Q |
| 134600 | FANCONI RENOTUBULAR SYNDROME |
| 613388 | FANCONI RENOTUBULAR SYNDROME 2 |
| 615605 | FANCONI RENOTUBULAR SYNDROME 3 |
| 227810 | FANCONI-BICKEL SYNDROME |
| 227850 | FANCONI-LIKE SYNDROME |
| 228000 | FARBER LIPOGRANULOMATOSIS |
| 228020 | FASCIAL DYSTROPHY, CONGENITAL |
| 600072 | FATAL FAMILIAL INSOMNIA |
| 613282 | FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 |
| 613387 | FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2 |
| 228100 | FATTY METAMORPHOSIS OF VISCERA |
| 134700 | FAVISM, SUSCEPTIBILITY TO |
| 604403 | FEBRILE CONVULSIONS, FAMILIAL, 3A |
| 611277 | FEBRILE CONVULSIONS, FAMILIAL, 8 |
| 121210 | FEBRILE SEIZURES, FAMILIAL, 1 |
| 614418 | FEBRILE SEIZURES, FAMILIAL, 11 |
| 602477 | FEBRILE SEIZURES, FAMILIAL, 2 |
| 604352 | FEBRILE SEIZURES, FAMILIAL, 4 |
| 609255 | FEBRILE SEIZURES, FAMILIAL, 5 |
| 609253 | FEBRILE SEIZURES, FAMILIAL, 6 |
| 611634 | FEBRILE SEIZURES, FAMILIAL, 9 |
| 153640 | FECHTNER SYNDROME |
| 164280 | FEINGOLD SYNDROME |
| 614326 | FEINGOLD SYNDROME 2 |
| 134750 | FELTY SYNDROME |
| 134780 | FEMORAL-FACIAL SYNDROME |
| 228250 | FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY |
| 228200 | FEMUR-FIBULA-ULNA SYNDROME |
| 228300 | FERTILE EUNUCH SYNDROME |
| 208150 | FETAL AKINESIA DEFORMATION SEQUENCE |
| 300073 | FETAL AKINESIA SYNDROME, X-LINKED |
| 141749 | FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 |
| 142470 | FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 2 |
| 305435 | FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 3 |
| 142335 | FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5 |
| 228355 | FETAL IODINE DEFICIENCY DISORDER |
| 228400 | FEVER, FAMILIAL LIFELONG PERSISTENT |
| 300321 | FG SYNDROME 2 |
| 300422 | FG SYNDROME 4 |
| 134900 | FIBRINOLYTIC DEFECT |
| 134934 | FIBROBLAST GROWTH FACTOR RECEPTOR 3 |
| 228520 | FIBROCHONDROGENESIS |
| 614524 | FIBROCHONDROGENESIS 2 |
| 135100 | FIBRODYSPLASIA OSSIFICANS PROGRESSIVA |
| 228550 | FIBROMATOSIS, CONGENITAL GENERALIZED |
| 135300 | FIBROMATOSIS, GINGIVAL, 1 |
| 228560 | FIBROMATOSIS, GINGIVAL, WITH DISTINCTIVE FACIES |
| 135550 | FIBROMATOSIS, GINGIVAL, WITH PROGRESSIVE DEAFNESS |
| 228600 | FIBROMATOSIS, JUVENILE HYALINE |
| 135580 | FIBROMUSCULAR DYSPLASIA OF ARTERIES |
| 228800 | FIBROSCLEROSIS, MULTIFOCAL |
| 135700 | FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1 |
| 602078 | FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2 |
| 600638 | FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT |
| 609384 | FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3C |
| 609612 | FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, WITH SYNERGISTIC DIVERGENCE |
| 135800 | FIBULA, RECURRENT DISLOCATION OF HEAD OF |
| 228930 | FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY |
| 246570 | FIBULAR APLASIA, TIBIAL CAMPOMELIA, AND OLIGOSYNDACTYLY SYNDROME |
| 228900 | FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY |
| 228940 | FIBULOULNAR APLASIA OR HYPOPLASIA WITH RENAL ABNORMALITIES |
| 102565 | FILAMIN C |
| 135950 | FINGER LOCKING, RECURRENT, WITH INTRAUTERINE GROWTH RETARDATION AND PROPORTIONATE SHORT STATURE |
| 305550 | FINGERPRINT BODY MYOPATHY |
| 136100 | FINGERS, RELATIVE LENGTH OF |
| 136120 | FISH-EYE DISEASE |
| 270710 | FITZSIMMONS-GUILBERT SYNDROME |
| 228990 | FLECK RETINA OF KANDORI |
| 228980 | FLECK RETINA, FAMILIAL BENIGN |
| 136140 | FLOATING-HARBOR SYNDROME |
| 136150 | FLOOD FACTOR DEFICIENCY |
| 136200 | FLUSHING OF EARS AND SOMNOLENCE |
| 136300 | FLYNN-AIRD SYNDROME |
| 607341 | FOCAL CORTICAL DYSPLASIA OF TAYLOR |
| 305600 | FOCAL DERMAL HYPOPLASIA |
| 136400 | FOCAL EPITHELIAL HYPERPLASIA OF THE ORAL MUCOSA |
| 229045 | FOCAL EPITHELIAL HYPERPLASIA, ORAL |
| 614973 | FOCAL FACIAL DERMAL DYSPLASIA 2, BRAUER-SETLEIS TYPE |
| 614974 | FOCAL FACIAL DERMAL DYSPLASIA 4 |
| 603278 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1 |
| 603965 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2 |
| 607832 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO |
| 612551 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO |
| 613237 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5 |
| 614131 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6 |
| 229050 | FOLATE MALABSORPTION, HEREDITARY |
| 229070 | FOLLICLE-STIMULATING HORMONE DEFICIENCY, ISOLATED |
| 613024 | FOLLICULAR LYMPHOMA, SUSCEPTIBILITY TO, 1 |
| 300033 | FORKHEAD BOX O4 |
| 229100 | FORMIMINOTRANSFERASE DEFICIENCY |
| 613606 | FORSYTHE-WAKELING SYNDROME |
| 229120 | FOUNTAIN SYNDROME |
| 136480 | FOURTH CRANIAL NERVE PALSY, FAMILIAL CONGENITAL |
| 609218 | FOVEAL HYPOPLASIA 2 |
| 136520 | FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME |
| 601153 | FRAGILE HISTIDINE TRIAD GENE |
| 136580 | FRAGILE SITE 16q22 |
| 136610 | FRAGILE SITE 2q11 |
| 300624 | FRAGILE X MENTAL RETARDATION SYNDROME |
| 300623 | FRAGILE X TREMOR/ATAXIA SYNDROME |
| 249420 | FRANK-TER HAAR SYNDROME |
| 219000 | FRASER SYNDROME |
| 229230 | FRASER-LIKE SYNDROME |
| 136680 | FRASIER SYNDROME |
| 229250 | FREESIA FLOWERS, INABILITY TO SMELL |
| 609640 | FRIAS SYNDROME |
| 229300 | FRIEDREICH ATAXIA 1 |
| 601992 | FRIEDREICH ATAXIA 2 |
| 229310 | FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA |
| 136600 | FRIEDREICH ATAXIA, SO-CALLED, WITH OPTIC ATROPHY AND SENSORINEURAL DEAFNESS |
| 229400 | FRONTOFACIONASAL DYSOSTOSIS |
| 305620 | FRONTOMETAPHYSEAL DYSPLASIA |
| 136760 | FRONTONASAL DYSPLASIA 1 |
| 613451 | FRONTONASAL DYSPLASIA 2 |
| 613456 | FRONTONASAL DYSPLASIA 3 |
| 203000 | FRONTONASAL DYSPLASIA WITH ALAR CLEFTS |
| 605321 | FRONTOOCULAR SYNDROME |
| 600274 | FRONTOTEMPORAL DEMENTIA |
| 600795 | FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED |
| 607485 | FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED |
| 229500 | FRUCTOSE AND GALACTOSE INTOLERANCE |
| 229600 | FRUCTOSE INTOLERANCE, HEREDITARY |
| 229650 | FRUCTOSE UTILIZATION |
| 229700 | FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY |
| 229800 | FRUCTOSURIA |
| 600302 | FRYNS MACROCEPHALY |
| 600776 | FRYNS MICROPHTHALMIA SYNDROME |
| 229850 | FRYNS SYNDROME |
| 606155 | FRYNS-AFTIMOS SYNDROME |
| 136820 | FUCOSIDASE, ALPHA-L, 2 |
| 230000 | FUCOSIDOSIS |
| 211100 | FUCOSYLTRANSFERASE 1 |
| 606812 | FUMARASE DEFICIENCY |
| 136880 | FUNDUS ALBIPUNCTATUS |
| 136900 | FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY |
| 264420 | FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, RECESSIVE FORM |
| 137000 | FUTCHER LINE |
| 610622 | FUZZY, DROSOPHILA, HOMOLOG OF |
| 607883 | G PROTEIN-COUPLED RECEPTOR 172B |
| 613163 | GABA-TRANSAMINASE DEFICIENCY |
| 230200 | GALACTOKINASE DEFICIENCY |
| 230300 | GALACTORRHEA |
| 230350 | GALACTOSE EPIMERASE DEFICIENCY |
| 230400 | GALACTOSEMIA |
| 256540 | GALACTOSIALIDOSIS |
| 600803 | GALLBLADDER DISEASE 1 |
| 611465 | GALLBLADDER DISEASE 4 |
| 137040 | GALLBLADDER, AGENESIS OF |
| 137050 | GAMMA-A-GLOBULIN, DEFECT IN ASSEMBLY OF |
| 305660 | GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-3 |
| 230450 | GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO |
| 137200 | GAMSTORP-WOHLFART SYNDROME |
| 230740 | GAPO SYNDROME |
| 137215 | GASTRIC CANCER |
| 613659 | GASTRIC CANCER |
| 137130 | GASTRIC SNEEZING |
| 137210 | GASTRIC VOLVULUS, INTRATHORACIC |
| 305670 | GASTRIN-RELEASING PEPTIDE RECEPTOR |
| 137280 | GASTRITIS, FAMILIAL GIANT HYPERTROPHIC |
| 137270 | GASTROCUTANEOUS SYNDROME |
| 109350 | GASTROESOPHAGEAL REFLUX |
| 606764 | GASTROINTESTINAL STROMAL TUMOR |
| 230750 | GASTROSCHISIS |
| 305371 | GATA-BINDING PROTEIN 1 |
| 610539 | GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY |
| 608013 | GAUCHER DISEASE, PERINATAL LETHAL |
| 230800 | GAUCHER DISEASE, TYPE I |
| 230900 | GAUCHER DISEASE, TYPE II |
| 231000 | GAUCHER DISEASE, TYPE III |
| 231005 | GAUCHER DISEASE, TYPE IIIC |
| 607313 | GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS |
| 300104 | GDP DISSOCIATION INHIBITOR 1 |
| 231050 | GELEOPHYSIC DYSPLASIA |
| 614185 | GELEOPHYSIC DYSPLASIA 2 |
| 609446 | GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA |
| 604233 | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 |
| 609800 | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 4 |
| 613863 | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7 |
| 190100 | GENIOSPASM 1 |
| 231060 | GENITOPALATOCARDIAC SYNDROME |
| 606170 | GENITOPATELLAR SYNDROME |
| 305690 | GENITOURINARY TRACT ANOMALIES |
| 137360 | GENOCHONDROMATOSIS |
| 137370 | GENU VALGUM, ST. HELENA FAMILIAL |
| 137400 | GEOGRAPHIC TONGUE AND FISSURED TONGUE |
| 231080 | GERMAN SYNDROME |
| 231070 | GERODERMA OSTEODYSPLASTICUM |
| 137440 | GERSTMANN-STRAUSSLER DISEASE |
| 231095 | GHOSAL HEMATODIAPHYSEAL DYSPLASIA |
| 612917 | GIACHETI SYNDROME |
| 256850 | GIANT AXONAL NEUROPATHY 1 |
| 610100 | GIANT AXONAL NEUROPATHY, AUTOSOMAL DOMINANT |
| 137500 | GIANT NEUTROPHIL LEUKOCYTES |
| 137550 | GIANT PIGMENTED HAIRY NEVUS |
| 137560 | GIANT PLATELET SYNDROME WITH THROMBOCYTOPENIA |
| 137575 | GIGANTIFORM CEMENTOMA, FAMILIAL |
| 143500 | GILBERT SYNDROME |
| 137580 | GILLES DE LA TOURETTE SYNDROME |
| 263800 | GITELMAN SYNDROME |
| 273800 | GLANZMANN THROMBASTHENIA |
| 137750 | GLAUCOMA 1, OPEN ANGLE, A |
| 601682 | GLAUCOMA 1, OPEN ANGLE, C |
| 603383 | GLAUCOMA 1, OPEN ANGLE, F |
| 609887 | GLAUCOMA 1, OPEN ANGLE, G |
| 610535 | GLAUCOMA 1, OPEN ANGLE, M |
| 613100 | GLAUCOMA 1, OPEN ANGLE, O |
| 177700 | GLAUCOMA 1, OPEN ANGLE, P |
| 615141 | GLAUCOMA 1, OPEN ANGLE, P |
| 231300 | GLAUCOMA 3, PRIMARY CONGENITAL, A |
| 613086 | GLAUCOMA 3, PRIMARY CONGENITAL, D |
| 600975 | GLAUCOMA 3, PRIMARY INFANTILE, B |
| 137763 | GLAUCOMA AND SLEEP APNEA |
| 137700 | GLAUCOMA WITH ELEVATED EPISCLERAL VENOUS PRESSURE |
| 137760 | GLAUCOMA, PRIMARY OPEN ANGLE |
| 137765 | GLAUCOMA-LENS ECTOPIA-MICROSPHEROPHAKIA-STIFFNESS-SHORTNESS SYNDROME |
| 600510 | GLAUCOMA-RELATED PIGMENT DISPERSION SYNDROME |
| 137800 | GLIOMA SUSCEPTIBILITY 1 |
| 221820 | GLIOSIS, FAMILIAL PROGRESSIVE SUBCORTICAL |
| 102530 | GLOBOZOOSPERMIA |
| 137900 | GLOBULIN ANOMALY INVOLVING BETA (2A)-GLOBULIN |
| 609886 | GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA |
| 137940 | GLOMERULONEPHRITIS WITH SPARSE HAIR AND TELANGIECTASES |
| 137950 | GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1 |
| 601894 | GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 |
| 138000 | GLOMUVENOUS MALFORMATIONS |
| 202200 | GLUCOCORTICOID DEFICIENCY 1 |
| 607398 | GLUCOCORTICOID DEFICIENCY 2 |
| 609197 | GLUCOCORTICOID DEFICIENCY 3 |
| 614736 | GLUCOCORTICOID DEFICIENCY 4 |
| 138040 | GLUCOCORTICOID RECEPTOR |
| 103900 | GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM |
| 138070 | GLUCOGLYCINURIA |
| 613742 | GLUCOSE-6-PHOSPHATASE, CATALYTIC |
| 606824 | GLUCOSE/GALACTOSE MALABSORPTION |
| 606777 | GLUT1 DEFICIENCY SYNDROME 1 |
| 231630 | GLUTAMATE MONOSODIUM SENSITIVITY |
| 138252 | GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2B |
| 610015 | GLUTAMINE DEFICIENCY, CONGENITAL |
| 231670 | GLUTARIC ACIDEMIA I |
| 231690 | GLUTARIC ACIDURIA III |
| 614164 | GLUTATHIONE PEROXIDASE DEFICIENCY |
| 138300 | GLUTATHIONE REDUCTASE |
| 266130 | GLUTATHIONE SYNTHETASE DEFICIENCY |
| 231900 | GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO |
| 231950 | GLUTATHIONURIA |
| 231970 | GLUTEAL MUSCLES, ABSENCE OF |
| 307030 | GLYCEROL KINASE DEFICIENCY |
| 614411 | GLYCEROL QUANTITATIVE TRAIT LOCUS |
| 605899 | GLYCINE ENCEPHALOPATHY |
| 606664 | GLYCINE N-METHYLTRANSFERASE DEFICIENCY |
| 138500 | GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASIS |
| 613741 | GLYCOGEN PHOSPHORYLASE, LIVER |
| 240600 | GLYCOGEN STORAGE DISEASE 0, LIVER |
| 611556 | GLYCOGEN STORAGE DISEASE 0, MUSCLE |
| 232200 | GLYCOGEN STORAGE DISEASE I |
| 232220 | GLYCOGEN STORAGE DISEASE Ib |
| 232240 | GLYCOGEN STORAGE DISEASE Ic |
| 232300 | GLYCOGEN STORAGE DISEASE II |
| 232400 | GLYCOGEN STORAGE DISEASE III |
| 232500 | GLYCOGEN STORAGE DISEASE IV |
| 306000 | GLYCOGEN STORAGE DISEASE IXa1 |
| 261750 | GLYCOGEN STORAGE DISEASE IXb |
| 613027 | GLYCOGEN STORAGE DISEASE IXc |
| 261740 | GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL |
| 232600 | GLYCOGEN STORAGE DISEASE V |
| 232700 | GLYCOGEN STORAGE DISEASE VI |
| 232800 | GLYCOGEN STORAGE DISEASE VII |
| 261670 | GLYCOGEN STORAGE DISEASE X |
| 612933 | GLYCOGEN STORAGE DISEASE XI |
| 612932 | GLYCOGEN STORAGE DISEASE XIII |
| 612934 | GLYCOGEN STORAGE DISEASE XIV |
| 613507 | GLYCOGEN STORAGE DISEASE XV |
| 300559 | GLYCOGEN STORAGE DISEASE, TYPE IXd |
| 232900 | GLYCOPROTEIN STORAGE DISEASE |
| 610293 | GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY |
| 230500 | GM1-GANGLIOSIDOSIS, TYPE I |
| 230600 | GM1-GANGLIOSIDOSIS, TYPE II |
| 230650 | GM1-GANGLIOSIDOSIS, TYPE III |
| 272750 | GM2-GANGLIOSIDOSIS, AB VARIANT |
| 138770 | GMS SYNDROME |
| 139320 | GNAS COMPLEX LOCUS |
| 166260 | GNATHODIAPHYSEAL DYSPLASIA |
| 138800 | GOITER, MULTINODULAR 1 |
| 300273 | GOITER, MULTINODULAR 2 |
| 138790 | GOITER, MULTINODULAR, CYSTIC RENAL DISEASE AND DIGITAL ANOMALIES |
| 609460 | GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME |
| 606867 | GOLGI REASSEMBLY STACKING PROTEIN 1 |
| 233270 | GOMBO SYNDROME |
| 600171 | GONADAL AGENESIS |
| 233400 | GONADAL DYSGENESIS, XX TYPE, WITH DEAFNESS |
| 233430 | GONADAL DYSGENESIS, XY TYPE, WITH ASSOCIATED ANOMALIES |
| 424500 | GONADOBLASTOMA |
| 233450 | GOODPASTURE SYNDROME |
| 233500 | GORLIN-CHAUDHRY-MOSS SYNDROME |
| 300323 | GOUT, HPRT-RELATED |
| 602361 | GRACILE BONE DYSPLASIA |
| 603358 | GRACILE SYNDROME |
| 138920 | GRANDDAD SYNDROME |
| 138930 | GRANT SYNDROME |
| 138945 | GRANULIN PRECURSOR |
| 425000 | GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR RECEPTOR, ALPHA SUBUNIT, Y-CHROMOSOMAL |
| 233600 | GRANULOCYTOPENIA WITH IMMUNOGLOBULIN ABNORMALITY |
| 306300 | GRANULOMAS, CONGENITAL CEREBRAL |
| 233670 | GRANULOMATOUS DISEASE WITH DEFECT IN NEUTROPHIL CHEMOTAXIS |
| 138990 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL DOMINANT TYPE |
| 233690 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE |
| 233700 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I |
| 233710 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II |
| 613960 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III |
| 306400 | GRANULOMATOUS DISEASE, CHRONIC, X-LINKED |
| 139000 | GRANULOSIS RUBRA NASI |
| 275000 | GRAVES DISEASE |
| 139090 | GRAY PLATELET SYNDROME |
| 139100 | GRAYING OF HAIR, PRECOCIOUS |
| 215140 | GREENBERG DYSPLASIA |
| 175700 | GREIG CEPHALOPOLYSYNDACTYLY SYNDROME |
| 214450 | GRISCELLI SYNDROME, TYPE 1 |
| 607624 | GRISCELLI SYNDROME, TYPE 2 |
| 609227 | GRISCELLI SYNDROME, TYPE 3 |
| 233800 | GROUPED PIGMENTATION OF THE MACULA |
| 610536 | GROWTH AND MENTAL RETARDATION, MANDIBULOFACIAL DYSOSTOSIS, MICROCEPHALY, AND CLEFT PALATE |
| 475000 | GROWTH CONTROL, Y-CHROMOSOME INFLUENCED |
| 605130 | GROWTH DEFICIENCY AND MENTAL RETARDATION WITH FACIAL DYSMORPHISM |
| 233805 | GROWTH FACTORS, COMBINED DEFECT OF |
| 608278 | GROWTH FAILURE, MICROCEPHALY, MENTAL RETARDATION, CATARACTS, LARGE JOINT CONTRACTURES, OSTEOPOROSIS, CORTICAL DYSPLASIA, AND CEREBELLAR ATROPHY |
| 245590 | GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY |
| 601351 | GROWTH RETARDATION, DEAFNESS, FEMORAL EPIPHYSEAL DYSPLASIA, AND LACRIMAL DUCT OBSTRUCTION |
| 612938 | GROWTH RETARDATION, DEVELOPMENTAL DELAY, COARSE FACIES, AND EARLY DEATH |
| 233810 | GROWTH RETARDATION, SMALL AND PUFFY HANDS AND FEET, AND ECZEMA |
| 139210 | GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE |
| 601146 | GROWTH/DIFFERENTIATION FACTOR 5 |
| 139313 | GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-11 |
| 600998 | GUANINE NUCLEOTIDE-BINDING PROTEIN, Q POLYPEPTIDE |
| 139393 | GUILLAIN-BARRE SYNDROME, FAMILIAL |
| 601187 | GURRIERI SYNDROME |
| 306500 | GYNECOMASTIA, FAMILIAL |
| 258870 | GYRATE ATROPHY OF CHOROID AND RETINA |
| 612946 | HADZISELIMOVIC SYNDROME |
| 245010 | HAIM-MUNK SYNDROME |
| 234030 | HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION |
| 139450 | HAIR MORPHOLOGY 2 |
| 139400 | HAIR WHORL |
| 139500 | HAIRY EARS |
| 425500 | HAIRY EARS, Y-LINKED |
| 139600 | HAIRY ELBOWS |
| 139630 | HAIRY NOSE TIP |
| 139650 | HAIRY PALMS AND SOLES |
| 102500 | HAJDU-CHENEY SYNDROME |
| 234250 | HALL-RIGGS MENTAL RETARDATION SYNDROME |
| 234100 | HALLERMANN-STREIFF SYNDROME |
| 234280 | HALLUX VARUS AND PREAXIAL POLYSYNDACTYLY |
| 234350 | HALOTHANE HEPATITIS |
| 611174 | HAMAMY SYNDROME |
| 609808 | HAMARTOMA, PRECALCANEAL CONGENITAL FIBROLIPOMATOUS |
| 139750 | HAND AND FOOT DEFORMITY WITH FLAT FACIES |
| 139900 | HAND SKILL, RELATIVE |
| 140000 | HAND-FOOT-GENITAL SYNDROME |
| 612726 | HARDIKAR SYNDROME |
| 601095 | HARROD SYNDROME |
| 234500 | HARTNUP DISORDER |
| 615465 | HARTSFIELD SYNDROME |
| 140300 | HASHIMOTO THYROIDITIS |
| 140350 | HAWKINSINURIA |
| 234580 | HEARING LOSS, SENSORINEURAL, WITH ENAMEL HYPOPLASIA AND NAIL DEFECTS |
| 234700 | HEART BLOCK, CONGENITAL |
| 140500 | HEART, MALFORMATION OF |
| 234750 | HEART, MALFORMATION OF |
| 610140 | HEART-HAND SYNDROME, SLOVENIAN TYPE |
| 140450 | HEART-HAND SYNDROME, SPANISH TYPE |
| 140700 | HEINZ BODY ANEMIAS |
| 600263 | HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO |
| 602089 | HEMANGIOMA, CAPILLARY INFANTILE |
| 141000 | HEMANGIOMA-THROMBOCYTOPENIA SYNDROME |
| 140900 | HEMANGIOMAS OF SMALL INTESTINE |
| 140850 | HEMANGIOMAS, CAVERNOUS, OF FACE AND SUPRAUMBILICAL MIDLINE RAPHE |
| 234800 | HEMANGIOMATOSIS, CUTANEOUS, WITH ASSOCIATED FEATURES |
| 234810 | HEMANGIOMATOSIS, FAMILIAL PULMONARY CAPILLARY |
| 234820 | HEMANGIOPERICYTOMA, MALIGNANT |
| 141200 | HEMATURIA, BENIGN FAMILIAL |
| 614034 | HEME OXYGENASE 1 DEFICIENCY |
| 141300 | HEMIFACIAL ATROPHY, PROGRESSIVE |
| 133900 | HEMIFACIAL HYPERPLASIA |
| 141350 | HEMIFACIAL HYPERPLASIA WITH STRABISMUS |
| 164210 | HEMIFACIAL MICROSOMIA |
| 141400 | HEMIFACIAL MICROSOMIA WITH RADIAL DEFECTS |
| 141405 | HEMIFACIAL SPASM, FAMILIAL |
| 235000 | HEMIHYPERPLASIA, ISOLATED |
| 235200 | HEMOCHROMATOSIS |
| 231100 | HEMOCHROMATOSIS, NEONATAL |
| 602390 | HEMOCHROMATOSIS, TYPE 2A |
| 613313 | HEMOCHROMATOSIS, TYPE 2B |
| 604250 | HEMOCHROMATOSIS, TYPE 3 |
| 606069 | HEMOCHROMATOSIS, TYPE 4 |
| 615517 | HEMOCHROMATOSIS, TYPE 5 |
| 613978 | HEMOGLOBIN H DISEASE |
| 609070 | HEMOGLOBIN, HIGH OXYGEN SATURATION OF |
| 141800 | HEMOGLOBIN--ALPHA LOCUS 1 |
| 141860 | HEMOGLOBIN--ALPHA LOCUS 3 |
| 141900 | HEMOGLOBIN--BETA LOCUS |
| 142000 | HEMOGLOBIN--DELTA LOCUS |
| 142309 | HEMOGLOBIN--VARIANTS FOR WHICH THE CHAIN CARRYING THE MUTATION IS UNKNOWN OR UNCERTAIN |
| 142310 | HEMOGLOBIN--ZETA LOCUS |
| 235370 | HEMOLYTIC ANEMIA WITH THERMAL SENSITIVITY OF RED CELLS |
| 600461 | HEMOLYTIC ANEMIA, LETHAL CONGENITAL NONSPHEROCYTIC, WITH GENITAL AND OTHER ABNORMALITIES |
| 613470 | HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY |
| 235700 | HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY |
| 141700 | HEMOLYTIC POIKILOCYTIC ANEMIA DUE TO REDUCED ANKYRIN BINDING SITES |
| 235400 | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 |
| 612922 | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 |
| 612923 | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 |
| 612924 | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4 |
| 612925 | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 |
| 612926 | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 |
| 267700 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1 |
| 603553 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 |
| 608898 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 |
| 603552 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4 |
| 613101 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 |
| 306700 | HEMOPHILIA A |
| 306800 | HEMOPHILIA A WITH VASCULAR ABNORMALITY |
| 306900 | HEMOPHILIA B |
| 306930 | HEMOPOIETIC PROLIFERATION |
| 613730 | HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS |
| 235500 | HEMOSIDEROSIS, PULMONARY, WITH DEFICIENCY OF GAMMA-A GLOBULIN |
| 235510 | HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME |
| 612356 | HEPARIN COFACTOR II DEFICIENCY |
| 126150 | HEPARIN-BINDING EGF-LIKE GROWTH FACTOR |
| 142330 | HEPATIC ADENOMAS, FAMILIAL |
| 614025 | HEPATIC LIPASE DEFICIENCY |
| 235550 | HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY |
| 142395 | HEPATITIS B VACCINE, RESPONSE TO |
| 114550 | HEPATOCELLULAR CARCINOMA |
| 150800 | HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER |
| 600361 | HEREDITARY MOTOR AND SENSORY NEUROPATHY V |
| 601152 | HEREDITARY MOTOR AND SENSORY NEUROPATHY VI |
| 604484 | HEREDITARY MOTOR AND SENSORY NEUROPATHY, PROXIMAL TYPE |
| 606071 | HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC |
| 603689 | HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE |
| 203300 | HERMANSKY-PUDLAK SYNDROME |
| 608233 | HERMANSKY-PUDLAK SYNDROME 2 |
| 614072 | HERMANSKY-PUDLAK SYNDROME 3 |
| 614073 | HERMANSKY-PUDLAK SYNDROME 4 |
| 614074 | HERMANSKY-PUDLAK SYNDROME 5 |
| 614075 | HERMANSKY-PUDLAK SYNDROME 6 |
| 614076 | HERMANSKY-PUDLAK SYNDROME 7 |
| 614077 | HERMANSKY-PUDLAK SYNDROME 8 |
| 614171 | HERMANSKY-PUDLAK SYNDROME 9 |
| 306950 | HERNIA, ANTERIOR DIAPHRAGMATIC |
| 142350 | HERNIA, DOUBLE INGUINAL |
| 142400 | HERNIA, HIATUS |
| 610551 | HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1 |
| 613002 | HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2 |
| 614850 | HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 4 |
| 142500 | HETEROCHROMIA IRIDIS |
| 306955 | HETEROTAXY, VISCERAL, 1, X-LINKED |
| 605376 | HETEROTAXY, VISCERAL, 2, AUTOSOMAL |
| 613751 | HETEROTAXY, VISCERAL, 4, AUTOSOMAL |
| 270100 | HETEROTAXY, VISCERAL, 5, AUTOSOMAL |
| 614779 | HETEROTAXY, VISCERAL, 6, AUTOSOMAL |
| 608097 | HETEROTOPIA, PERIVENTRICULAR, AUTOSOMAL RECESSIVE |
| 300537 | HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT |
| 300049 | HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT |
| 613609 | HFE GENE |
| 306960 | HHHH SYNDROME |
| 228960 | HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY |
| 142669 | HIP DYSPLASIA, BEUKES TYPE |
| 235760 | HIRSCHSPRUNG DISEASE WITH HYPOPLASTIC NAILS AND DYSMORPHIC FACIAL FEATURES |
| 235740 | HIRSCHSPRUNG DISEASE WITH POLYDACTYLY, RENAL AGENESIS, AND DEAFNESS |
| 306980 | HIRSCHSPRUNG DISEASE WITH TYPE D BRACHYDACTYLY |
| 235750 | HIRSCHSPRUNG DISEASE WITH ULNAR POLYDACTYLY, POLYSYNDACTYLY OF BIG TOES, AND VENTRICULAR SEPTAL DEFECT |
| 613870 | HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION |
| 142623 | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 |
| 600155 | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2 |
| 600156 | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 5 |
| 142625 | HIRSUTISM--SKELETAL DYSPLASIA--MENTAL RETARDATION SYNDROME |
| 235800 | HISTIDINEMIA |
| 235830 | HISTIDINURIA DUE TO A RENAL TUBULAR DEFECT |
| 612160 | HISTIOCYTOMA, ANGIOMATOID FIBROUS |
| 602782 | HISTIOCYTOSIS WITH JOINT CONTRACTURES AND SENSORINEURAL DEAFNESS |
| 235900 | HISTIOCYTOSIS, FAMILIAL LIPOCHROME |
| 142630 | HISTIOCYTOSIS, PROGRESSIVE MUCINOUS |
| 236000 | HODGKIN LYMPHOMA |
| 253270 | HOLOCARBOXYLASE SYNTHETASE DEFICIENCY |
| 236100 | HOLOPROSENCEPHALY |
| 614226 | HOLOPROSENCEPHALY 11 |
| 157170 | HOLOPROSENCEPHALY 2 |
| 142945 | HOLOPROSENCEPHALY 3 |
| 142946 | HOLOPROSENCEPHALY 4 |
| 609637 | HOLOPROSENCEPHALY 5 |
| 610828 | HOLOPROSENCEPHALY 7 |
| 610829 | HOLOPROSENCEPHALY 9 |
| 306990 | HOLOPROSENCEPHALY WITH FETAL AKINESIA/HYPOKINESIA SEQUENCE |
| 300571 | HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE |
| 610680 | HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS |
| 601370 | HOLOPROSENCEPHALY, SEMILOBAR, WITH CRANIOSYNOSTOSIS |
| 142900 | HOLT-ORAM SYNDROME |
| 236110 | HOLZGREVE SYNDROME |
| 236130 | HOMOCARNOSINOSIS |
| 603174 | HOMOCYSTEINEMIA |
| 236200 | HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY |
| 236250 | HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY |
| 236270 | HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE |
| 250940 | HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE |
| 306995 | HOMOSEXUALITY 1 |
| 606528 | HOMOZYGOUS 11p15-p14 DELETION SYNDROME |
| 236300 | HOOFT DISEASE |
| 143000 | HORNER SYNDROME, CONGENITAL |
| 300240 | HOYERAAL-HREIDARSSON SYNDROME |
| 606118 | HPS3 GENE |
| 607521 | HPS5 GENE |
| 607522 | HPS6 GENE |
| 143050 | HUMERORADIAL SYNOSTOSIS |
| 236400 | HUMERORADIAL SYNOSTOSIS |
| 236410 | HUMERORADIAL SYNOSTOSIS WITH CRANIOFACIAL ANOMALIES |
| 143095 | HUMEROSPINAL DYSOSTOSIS |
| 611962 | HUNTER-MACDONALD SYNDROME |
| 601379 | HUNTER-MCALPINE CRANIOSYNOSTOSIS SYNDROME |
| 143100 | HUNTINGTON DISEASE |
| 603218 | HUNTINGTON DISEASE-LIKE 1 |
| 606438 | HUNTINGTON DISEASE-LIKE 2 |
| 604802 | HUNTINGTON DISEASE-LIKE 3 |
| 607014 | HURLER SYNDROME |
| 607015 | HURLER-SCHEIE SYNDROME |
| 176670 | HUTCHINSON-GILFORD PROGERIA SYNDROME |
| 236450 | HUTTERITE CEREBROOSTEONEPHRODYSPLASIA SYNDROME |
| 236490 | HYALINOSIS, INFANTILE SYSTEMIC |
| 601492 | HYALURONIDASE DEFICIENCY |
| 231090 | HYDATIDIFORM MOLE |
| 614293 | HYDATIDIFORM MOLE, RECURRENT, 2 |
| 236500 | HYDRANENCEPHALY WITH RENAL APLASIA-DYSPLASIA |
| 236600 | HYDROCEPHALUS |
| 236635 | HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS |
| 307000 | HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS |
| 236640 | HYDROCEPHALUS WITH ASSOCIATED MALFORMATIONS |
| 307010 | HYDROCEPHALUS WITH CEREBELLAR AGENESIS |
| 600256 | HYDROCEPHALUS, AUTOSOMAL DOMINANT |
| 600559 | HYDROCEPHALUS, ENDOCARDIAL FIBROELASTOSIS, AND CATARACTS |
| 615219 | HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2 |
| 236690 | HYDROCEPHALUS, NORMAL-PRESSURE |
| 600991 | HYDROCEPHALUS, SKELETAL ANOMALIES, AND MENTAL DISTURBANCE |
| 236660 | HYDROCEPHALUS, TALL STATURE, JOINT LAXITY, AND KYPHOSCOLIOSIS |
| 236680 | HYDROLETHALUS SYNDROME 1 |
| 614120 | HYDROLETHALUS SYNDROME 2 |
| 604916 | HYDRONEPHROSIS, CONGENITAL, WITH CLEFT PALATE, CHARACTERISTIC FACIES, HYPOTONIA, AND MENTAL RETARDATION |
| 236750 | HYDROPS FETALIS, IDIOPATHIC |
| 613124 | HYDROPS FETALIS, NONIMMUNE, WITH GRACILE BONES AND DYSMORPHIC FEATURES |
| 614033 | HYDROXYACYL GLUTATHIONE HYDROLASE DEFICIENCY |
| 236800 | HYDROXYKYNURENINURIA |
| 236900 | HYDROXYLYSINURIA |
| 237000 | HYDROXYPROLINEMIA |
| 237100 | HYMEN, IMPERFORATE |
| 237400 | HYPER-BETA-ALANINEMIA |
| 260920 | HYPER-IgD SYNDROME |
| 147060 | HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT |
| 243700 | HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE |
| 605635 | HYPERALDOSTERONISM, FAMILIAL, TYPE II |
| 613677 | HYPERALDOSTERONISM, FAMILIAL, TYPE III |
| 143470 | HYPERALPHALIPOPROTEINEMIA |
| 614028 | HYPERALPHALIPOPROTEINEMIA 2 |
| 237550 | HYPERBILIRUBINEMIA, CONJUGATED, TYPE III |
| 237450 | HYPERBILIRUBINEMIA, ROTOR TYPE |
| 237800 | HYPERBILIRUBINEMIA, SHUNT |
| 237900 | HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL |
| 614156 | HYPERBILIVERDINEMIA |
| 143880 | HYPERCALCEMIA, IDIOPATHIC, OF INFANCY |
| 143870 | HYPERCALCIURIA, ABSORPTIVE, 2 |
| 115300 | HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT |
| 277350 | HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL RECESSIVE |
| 143860 | HYPERCHLORHIDROSIS, ISOLATED |
| 607748 | HYPERCHOLANEMIA, FAMILIAL |
| 144020 | HYPERCHOLESTEROLEMIA SUPPRESSOR |
| 143890 | HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT |
| 603776 | HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 |
| 144010 | HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B |
| 603813 | HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE |
| 614619 | HYPEREKPLEXIA 2 |
| 614618 | HYPEREKPLEXIA 3 |
| 149400 | HYPEREKPLEXIA, HEREDITARY |
| 607685 | HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC |
| 600886 | HYPERFERRITINEMIA WITH OR WITHOUT CATARACT |
| 241090 | HYPERGONADOTROPIC HYPOGONADISM AND PARTIAL ALOPECIA |
| 144050 | HYPERHEPARINEMIA |
| 144110 | HYPERHIDROSIS PALMARIS ET PLANTARIS |
| 144100 | HYPERHIDROSIS, GUSTATORY |
| 144120 | HYPERIMMUNOGLOBULIN G1(A1) SYNDROME |
| 256450 | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1 |
| 601820 | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2 |
| 602485 | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3 |
| 609975 | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4 |
| 609968 | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5 |
| 606762 | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6 |
| 610021 | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7 |
| 170500 | HYPERKALEMIC PERIODIC PARALYSIS |
| 144150 | HYPERKERATOSIS LENTICULARIS PERSTANS |
| 144190 | HYPERKERATOSIS-HYPERPIGMENTATION SYNDROME |
| 238340 | HYPERLEUCINE-ISOLEUCINEMIA |
| 238350 | HYPERLEXIA |
| 144250 | HYPERLIPIDEMIA, FAMILIAL COMBINED |
| 238600 | HYPERLIPOPROTEINEMIA, TYPE I |
| 144400 | HYPERLIPOPROTEINEMIA, TYPE II |
| 144300 | HYPERLIPOPROTEINEMIA, TYPE II, AND DEAFNESS |
| 144600 | HYPERLIPOPROTEINEMIA, TYPE IV |
| 144650 | HYPERLIPOPROTEINEMIA, TYPE V |
| 238700 | HYPERLYSINEMIA |
| 238710 | HYPERLYSINEMIA DUE TO DEFECT IN LYSINE TRANSPORT INTO MITOCHONDRIA |
| 238750 | HYPERLYSINURIA WITH HYPERAMMONEMIA |
| 613280 | HYPERMANGANESEMIA WITH DYSTONIA, POLYCYTHEMIA, AND CIRRHOSIS |
| 238800 | HYPERMETABOLISM DUE TO DEFECT IN MITOCHONDRIA |
| 614300 | HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY |
| 613752 | HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY |
| 238950 | HYPEROPIA, HIGH |
| 238970 | HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME |
| 239100 | HYPEROSTOSIS CORTICALIS GENERALISATA |
| 144750 | HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS PALATINUS |
| 144755 | HYPEROSTOSIS CRANIALIS INTERNA |
| 144800 | HYPEROSTOSIS FRONTALIS INTERNA |
| 610233 | HYPEROSTOSIS-HYPERPHOSPHATEMIA SYNDROME |
| 259900 | HYPEROXALURIA, PRIMARY, TYPE I |
| 260000 | HYPEROXALURIA, PRIMARY, TYPE II |
| 613616 | HYPEROXALURIA, PRIMARY, TYPE III |
| 145000 | HYPERPARATHYROIDISM 1 |
| 145001 | HYPERPARATHYROIDISM 2 |
| 239199 | HYPERPARATHYROIDISM, NEONATAL SELF-LIMITED PRIMARY, WITH HYPERCALCIURIA |
| 239200 | HYPERPARATHYROIDISM, NEONATAL SEVERE |
| 600166 | HYPERPARATHYROIDISM, PRIMARY, CAUSED BY WATER CLEAR CELL HYPERPLASIA |
| 261640 | HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A |
| 233910 | HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B |
| 261630 | HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C |
| 264070 | HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D |
| 239300 | HYPERPHOSPHATASIA WITH MENTAL RETARDATION |
| 614749 | HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 |
| 614207 | HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 |
| 615716 | HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 |
| 239350 | HYPERPHOSPHATEMIA, POLYURIA, AND SEIZURES |
| 145100 | HYPERPIGMENTATION OF EYELIDS |
| 145200 | HYPERPIGMENTATION OF FULDAUER AND KUIJPERS |
| 612391 | HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY, HEART ANOMALIES, AND HYPOGONADISM WITH OR WITHOUT HEARING LOSS |
| 145250 | HYPERPIGMENTATION, FAMILIAL PROGRESSIVE |
| 145270 | HYPERPROGLUCAGONEMIA |
| 615555 | HYPERPROLACTINEMIA |
| 239500 | HYPERPROLINEMIA, TYPE I |
| 239510 | HYPERPROLINEMIA, TYPE II |
| 145290 | HYPERREFLEXIA |
| 145295 | HYPERSECRETION OF ADRENAL ANDROGENS, FAMILIAL |
| 145300 | HYPERSENSITIVITY PNEUMONITIS, FAMILIAL |
| 145350 | HYPERTAURINURIC CARDIOMYOPATHY |
| 145400 | HYPERTELORISM |
| 614684 | HYPERTELORISM AND OTHER FACIAL DYSMORPHISM, BRACHYDACTYLY, GENITAL ABNORMALITIES, MENTAL RETARDATION, AND RECURRENT INFLAMMATORY EPISODES |
| 239711 | HYPERTELORISM AND TETRALOGY OF FALLOT |
| 239800 | HYPERTELORISM, MICROTIA, FACIAL CLEFTING SYNDROME |
| 614187 | HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS |
| 145420 | HYPERTELORISM, TEEBI TYPE |
| 112410 | HYPERTENSION WITH BRACHYDACTYLY |
| 608622 | HYPERTENSION, DIASTOLIC, RESISTANCE TO |
| 605115 | HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATION IN PREGNANCY |
| 145500 | HYPERTENSION, ESSENTIAL |
| 145590 | HYPERTHERMIA, CUTANEOUS, WITH HEADACHES AND NAUSEA |
| 603373 | HYPERTHYROIDISM, FAMILIAL GESTATIONAL |
| 609152 | HYPERTHYROIDISM, NONAUTOIMMUNE |
| 135400 | HYPERTRICHOSIS TERMINALIS, GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA |
| 145700 | HYPERTRICHOSIS UNIVERSALIS |
| 145701 | HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE |
| 600457 | HYPERTRICHOSIS, ANTERIOR CERVICAL |
| 239840 | HYPERTRICHOSIS, CONGENITAL ANTERIOR CERVICAL, WITH PERIPHERAL SENSORY AND MOTOR NEUROPATHY |
| 307150 | HYPERTRICHOSIS, CONGENITAL GENERALIZED |
| 609943 | HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES |
| 145750 | HYPERTRIGLYCERIDEMIA, FAMILIAL |
| 614480 | HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE |
| 145800 | HYPERTROPHIA MUSCULORUM VERA |
| 239900 | HYPERTROPHIC NEUROPATHY AND CATARACT |
| 145900 | HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS |
| 167100 | HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT |
| 259100 | HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE |
| 614441 | HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2 |
| 113670 | HYPERTROPHY OF THE BREAST, JUVENILE |
| 600627 | HYPERTRYPTOPHANEMIA, FAMILIAL |
| 240000 | HYPERURICEMIA, INFANTILE, WITH ABNORMAL BEHAVIOR AND NORMAL HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE |
| 613845 | HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS |
| 162000 | HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE |
| 613092 | HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2 |
| 614227 | HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3 |
| 240150 | HYPERVITAMINOSIS A, SUSCEPTIBILITY TO |
| 601979 | HYPERZINCEMIA WITH FUNCTIONAL ZINC DEPLETION |
| 240200 | HYPOADRENOCORTICISM, FAMILIAL |
| 604091 | HYPOALPHALIPOPROTEINEMIA, PRIMARY |
| 240400 | HYPOASCORBEMIA |
| 615558 | HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 |
| 605019 | HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2 |
| 601198 | HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 |
| 615361 | HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 |
| 145980 | HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I |
| 145981 | HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II |
| 600740 | HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III |
| 146000 | HYPOCHONDROPLASIA |
| 612776 | HYPOGLOSSIA WITH SITUS INVERSUS |
| 240800 | HYPOGLYCEMIA, LEUCINE-INDUCED |
| 240900 | HYPOGLYCEMIA, NEONATAL, SIMULATING FOETOPATHIA DIABETICA |
| 241000 | HYPOGONADISM WITH LOW-GRADE MENTAL DEFICIENCY AND MICROCEPHALY |
| 241080 | HYPOGONADISM, ALOPECIA, DIABETES MELLITUS, MENTAL RETARDATION, AND EXTRAPYRAMIDAL SYNDROME |
| 241100 | HYPOGONADISM, MALE |
| 307300 | HYPOGONADISM, MALE |
| 307500 | HYPOGONADISM, MALE, WITH MENTAL RETARDATION AND SKELETAL ANOMALIES |
| 240950 | HYPOGONADISM-CATARACT SYNDROME |
| 146110 | HYPOGONADOTROPIC HYPOGONADISM |
| 308700 | HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA |
| 614839 | HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA |
| 614840 | HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA |
| 614842 | HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA |
| 614858 | HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA |
| 614880 | HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA |
| 614897 | HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA |
| 615266 | HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA |
| 615267 | HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA |
| 615269 | HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA |
| 147950 | HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA |
| 615270 | HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA |
| 615271 | HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA |
| 614837 | HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA |
| 614838 | HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA |
| 241120 | HYPOHIDROSIS WITH ABNORMAL PALMAR DERMAL RIDGES |
| 241150 | HYPOKALEMIA, FAMILIAL |
| 170400 | HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 |
| 613345 | HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2 |
| 602014 | HYPOMAGNESEMIA 1, INTESTINAL |
| 154020 | HYPOMAGNESEMIA 2, RENAL |
| 248250 | HYPOMAGNESEMIA 3, RENAL |
| 611718 | HYPOMAGNESEMIA 4, RENAL |
| 248190 | HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT |
| 613882 | HYPOMAGNESEMIA 6, RENAL |
| 241310 | HYPOMANDIBULAR FACIOCRANIAL DYSOSTOSIS |
| 300337 | HYPOMELANOSIS OF ITO |
| 146160 | HYPOMELIA WITH MULLERIAN DUCT ANOMALIES |
| 615281 | HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY |
| 612949 | HYPOMYELINATION, GLOBAL CEREBRAL |
| 146200 | HYPOPARATHYROIDISM, FAMILIAL ISOLATED |
| 146255 | HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE |
| 307700 | HYPOPARATHYROIDISM, X-LINKED |
| 241410 | HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME |
| 146300 | HYPOPHOSPHATASIA, ADULT |
| 241510 | HYPOPHOSPHATASIA, CHILDHOOD |
| 241500 | HYPOPHOSPHATASIA, INFANTILE |
| 241519 | HYPOPHOSPHATEMIA, RENAL, WITH INTRACEREBRAL CALCIFICATIONS |
| 146350 | HYPOPHOSPHATEMIC BONE DISEASE |
| 612089 | HYPOPHOSPHATEMIC RICKETS AND HYPERPARATHYROIDISM |
| 241530 | HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY |
| 193100 | HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT |
| 241520 | HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE |
| 613312 | HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2 |
| 307800 | HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT |
| 300554 | HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE |
| 146400 | HYPOPLASIA OF TEETH ROOTS |
| 241550 | HYPOPLASTIC LEFT HEART SYNDROME |
| 614435 | HYPOPLASTIC LEFT HEART SYNDROME 2 |
| 607236 | HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION |
| 241600 | HYPOPROTEINEMIA, HYPERCATABOLIC |
| 300633 | HYPOSPADIAS 1, X-LINKED |
| 300758 | HYPOSPADIAS 2, X-LINKED |
| 146450 | HYPOSPADIAS 3, AUTOSOMAL |
| 603463 | HYPOSPADIAS, HYPERTELORISM, UPPER LID COLOBOMA, AND MIXED-TYPE HEARING LOSS |
| 241760 | HYPOSPADIAS-MENTAL RETARDATION SYNDROME |
| 146500 | HYPOTENSION, ORTHOSTATIC |
| 241800 | HYPOTHALAMIC HAMARTOMAS |
| 241850 | HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE |
| 300888 | HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT |
| 275200 | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 |
| 218700 | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 |
| 275100 | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4 |
| 225250 | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 |
| 614450 | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 |
| 300184 | HYPOTONIA, CONGENITAL NYSTAGMUS, ATAXIA, AND ABNORMAL AUDITORY BRAINSTEM RESPONSES |
| 615419 | HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES |
| 612777 | HYPOTONIA, SEIZURES, AND PRECOCIOUS PUBERTY |
| 606407 | HYPOTONIA-CYSTINURIA SYNDROME |
| 605389 | HYPOTRICHOSIS 1 |
| 615059 | HYPOTRICHOSIS 11 |
| 146520 | HYPOTRICHOSIS 2 |
| 613981 | HYPOTRICHOSIS 3 |
| 146550 | HYPOTRICHOSIS 4 |
| 612841 | HYPOTRICHOSIS 5 |
| 607903 | HYPOTRICHOSIS 6 |
| 604379 | HYPOTRICHOSIS 7 |
| 278150 | HYPOTRICHOSIS 8 |
| 613102 | HYPOTRICHOSIS AND RECURRENT SKIN VESICLES |
| 601553 | HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY |
| 611452 | HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 3 |
| 609250 | HYPOTRICHOSIS, PROGRESSIVE PATTERNED SCALP, WITH WIRY HAIR, ONYCHOLYSIS, AND CLEFT LIP/PALATE |
| 607823 | HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME |
| 607658 | HYPOTRICHOSIS-OSTEOLYSIS-PERIODONTITIS-PALMOPLANTAR KERATODERMA SYNDROME |
| 307830 | HYPOURICEMIA, FAMILIAL RENAL, DUE TO TUBULAR HYPERSECRETION |
| 242050 | HYPOURICEMIA, HYPERCALCINURIA, AND DECREASED BONE DENSITY |
| 220150 | HYPOURICEMIA, RENAL, 1 |
| 612076 | HYPOURICEMIA, RENAL, 2 |
| 242100 | ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1 |
| 242150 | ICHTHYOSIFORM ERYTHRODERMA, CORNEAL INVOLVEMENT, AND DEAFNESS |
| 308200 | ICHTHYOSIS AND MALE HYPOGONADISM |
| 242500 | ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE |
| 308205 | ICHTHYOSIS FOLLICULARIS, ATRICHIA, AND PHOTOPHOBIA SYNDROME |
| 146600 | ICHTHYOSIS HYSTRIX GRAVIOR |
| 146590 | ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE |
| 608649 | ICHTHYOSIS PREMATURITY SYNDROME |
| 146700 | ICHTHYOSIS VULGARIS |
| 242510 | ICHTHYOSIS WITH ALOPECIA, ECLABION, ECTROPION, AND MENTAL RETARDATION |
| 610765 | ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE |
| 146800 | ICHTHYOSIS, BULLOUS TYPE |
| 242300 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 |
| 615024 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 |
| 602400 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11 |
| 601277 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A |
| 604777 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5 |
| 612281 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 |
| 615022 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 7 |
| 613943 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8 |
| 615023 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9 |
| 607602 | ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS |
| 242520 | ICHTHYOSIS, HEPATOSPLENOMEGALY, AND CEREBELLAR DEGENERATION |
| 602540 | ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS |
| 606545 | ICHTHYOSIS, LAMELLAR, 5 |
| 146750 | ICHTHYOSIS, LAMELLAR, AUTOSOMAL DOMINANT |
| 607626 | ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS |
| 242530 | ICHTHYOSIS, MENTAL RETARDATION, DWARFISM, AND RENAL IMPAIRMENT |
| 604781 | ICHTHYOSIS, NONLAMELLAR AND NONERYTHRODERMIC, CONGENITAL, AUTOSOMAL RECESSIVE |
| 614457 | ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION |
| 242550 | ICHTHYOSIS, SPLIT HAIRS, AND AMINO ACIDURIA |
| 308100 | ICHTHYOSIS, X-LINKED |
| 146720 | ICHTHYOSIS--CHEEK--EYEBROW SYNDROME |
| 601039 | ICHTHYOSIS-MENTAL RETARDATION SYNDROME WITH LARGE KERATOHYALIN GRANULES IN THE SKIN |
| 300823 | IDURONATE 2-SULFATASE |
| 161950 | IgA NEPHROPATHY 1 |
| 613944 | IgA NEPHROPATHY, SUSCEPTIBILITY TO, 2 |
| 147050 | IgE RESPONSIVENESS, ATOPIC |
| 147100 | IgG HEAVY CHAIN LOCUS |
| 615207 | IL21R IMMUNODEFICIENCY |
| 242600 | IMINOGLYCINURIA |
| 242700 | IMMUNE DEFECT DUE TO ABSENCE OF THYMUS |
| 242850 | IMMUNE DEFICIENCY DISEASE |
| 146830 | IMMUNE DEFICIENCY, FAMILIAL VARIABLE |
| 612782 | IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT 1 |
| 612783 | IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT 2 |
| 146850 | IMMUNE SUPPRESSION |
| 615468 | IMMUNODEFICIENCY 12 |
| 615518 | IMMUNODEFICIENCY 13 |
| 615592 | IMMUNODEFICIENCY 15 |
| 615593 | IMMUNODEFICIENCY 16 |
| 615607 | IMMUNODEFICIENCY 17 |
| 615615 | IMMUNODEFICIENCY 18 |
| 615617 | IMMUNODEFICIENCY 19 |
| 615707 | IMMUNODEFICIENCY 20 |
| 615401 | IMMUNODEFICIENCY 8 |
| 610163 | IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA |
| 610798 | IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN |
| 613860 | IMMUNODEFICIENCY DUE TO FICOLIN 3 DEFICIENCY |
| 242840 | IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM |
| 146840 | IMMUNODEFICIENCY WITH DEFECTIVE LEUKOCYTE AND LYMPHOCYTE FUNCTION AND WITH RESPONSE TO HISTAMINE-1 ANTAGONIST |
| 243110 | IMMUNODEFICIENCY WITH DEFECTIVE T-CELL RESPONSE TO INTERLEUKIN 1 |
| 308230 | IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 |
| 605258 | IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2 |
| 606843 | IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3 |
| 608184 | IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 4 |
| 608106 | IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5 |
| 300584 | IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA |
| 607594 | IMMUNODEFICIENCY, COMMON VARIABLE, 1 |
| 615577 | IMMUNODEFICIENCY, COMMON VARIABLE, 10 |
| 613493 | IMMUNODEFICIENCY, COMMON VARIABLE, 3 |
| 613494 | IMMUNODEFICIENCY, COMMON VARIABLE, 4 |
| 613495 | IMMUNODEFICIENCY, COMMON VARIABLE, 5 |
| 613496 | IMMUNODEFICIENCY, COMMON VARIABLE, 6 |
| 614699 | IMMUNODEFICIENCY, COMMON VARIABLE, 7 |
| 614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY |
| 615559 | IMMUNODEFICIENCY, COMMON VARIABLE, 9 |
| 611926 | IMMUNODEFICIENCY, OVARIAN DYSGENESIS, AND PULMONARY FIBROSIS |
| 242870 | IMMUNODEFICIENCY, PARTIAL COMBINED, WITH ABSENCE OF HLA DETERMINANTS AND BETA-2-MICROGLOBULIN FROM LYMPHOCYTES |
| 308220 | IMMUNODEFICIENCY, X-LINKED, WITH DEFICIENCY OF 115,000 DALTON SURFACE GLYCOPROTEIN |
| 300853 | IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA |
| 242860 | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME |
| 614069 | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 |
| 304790 | IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED |
| 242880 | IMMUNOERYTHROMYELOID HYPOPLASIA |
| 137100 | IMMUNOGLOBULIN A DEFICIENCY 1 |
| 609529 | IMMUNOGLOBULIN A DEFICIENCY 2 |
| 242890 | IMMUNOGLOBULIN D LEVEL IN PLASMA, LOW |
| 614102 | IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY |
| 308250 | IMMUNOGLOBULIN M, LEVEL OF |
| 300076 | IMMUNONEUROLOGIC DISORDER, X-LINKED |
| 242900 | IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE |
| 308280 | IMPACTED TEETH, MULTIPLE |
| 147251 | INCISORS, FUSED MANDIBULAR |
| 147300 | INCISORS, LONG UPPER CENTRAL |
| 147330 | INCISORS, LOWER CENTRAL, ABSENCE OF |
| 147350 | INCISORS, ROTATION OF UPPER CENTRAL |
| 147400 | INCISORS, SHOVEL-SHAPED |
| 600737 | INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE |
| 605637 | INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT |
| 167320 | INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA |
| 147421 | INCLUSION BODY MYOSITIS |
| 308300 | INCONTINENTIA PIGMENTI |
| 147430 | INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL DOMINANT |
| 243000 | INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE |
| 243050 | INDOLYLACROYL GLYCINURIA WITH MENTAL RETARDATION |
| 614559 | INFANTILE CEREBELLAR-RETINAL DEGENERATION |
| 615438 | INFANTILE LIVER FAILURE SYNDROME 1 |
| 615486 | INFANTILE LIVER FAILURE SYNDROME 2 |
| 269920 | INFANTILE SIALIC ACID STORAGE DISEASE |
| 613759 | INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS |
| 266600 | INFLAMMATORY BOWEL DISEASE 1 |
| 191390 | INFLAMMATORY BOWEL DISEASE 11 |
| 612244 | INFLAMMATORY BOWEL DISEASE 13 |
| 612278 | INFLAMMATORY BOWEL DISEASE 19 |
| 612567 | INFLAMMATORY BOWEL DISEASE 25 |
| 613148 | INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE |
| 614328 | INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL |
| 600989 | INFUNDIBULOPELVIC DYSGENESIS |
| 243080 | INOSINE PHOSPHORYLASE DEFICIENCY, IMMUNE DEFECT DUE TO |
| 147540 | INSECT STINGS, HYPERSENSITIVITY TO |
| 147530 | INSENSITIVITY TO PAIN WITH HYPERPLASTIC MYELINOPATHY |
| 256800 | INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS |
| 147320 | INSULIN RECEPTORS, FAMILIAL INCREASE IN |
| 608747 | INSULIN-LIKE GROWTH FACTOR I DEFICIENCY |
| 270450 | INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO |
| 606960 | INSULINOMA TUMOR SUPPRESSOR GENE LOCUS |
| 173470 | INTEGRIN, BETA-3 |
| 612852 | INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY |
| 606367 | INTERLEUKIN 2 RECEPTOR, ALPHA, DEFICIENCY OF |
| 308385 | INTERLEUKIN 3 RECEPTOR, ALPHA |
| 430000 | INTERLEUKIN 3 RECEPTOR, Y-CHROMOSOMAL |
| 147620 | INTERLEUKIN 6 |
| 243100 | INTERNAL CAROTID ARTERIES, HYPOPLASIA OF |
| 147820 | INTERNAL CAROTID ARTERY, SPONTANEOUS DISSECTION OF |
| 614748 | INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL |
| 614817 | INTERSTITIAL NEPHRITIS, KARYOMEGALIC |
| 263000 | INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL |
| 243150 | INTESTINAL ATRESIA, MULTIPLE |
| 243185 | INTESTINAL PSEUDOOBSTRUCTION WITH PATENT DUCTUS ARTERIOSUS AND NATAL TEETH |
| 300048 | INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED |
| 243200 | INTRACRANIAL HYPERTENSION, IDIOPATHIC |
| 600546 | INTRAUTERINE GROWTH RETARDATION WITH INCREASED MITOMYCIN C SENSITIVITY |
| 300290 | INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES |
| 614732 | INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES |
| 243320 | INTRINSIC FACTOR AND R BINDER, COMBINED CONGENITAL DEFICIENCY OF |
| 261000 | INTRINSIC FACTOR DEFICIENCY |
| 147710 | INTUSSUSCEPTION |
| 610799 | INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1 |
| 300640 | INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2 |
| 607676 | IRAK4 DEFICIENCY |
| 601631 | IRIDOGONIODYSGENESIS, TYPE 1 |
| 137600 | IRIDOGONIODYSGENESIS, TYPE 2 |
| 308500 | IRIS HYPOPLASIA WITH GLAUCOMA |
| 601616 | IRIS PIGMENT EPITHELIUM ANOMALIES |
| 147610 | IRIS PIGMENT LAYER, CLEAVAGE OF |
| 601195 | IRON OVERLOAD IN AFRICA |
| 206200 | IRON-REFRACTORY IRON DEFICIENCY ANEMIA |
| 147630 | ISLET CELL ADENOMATOSIS |
| 611283 | ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY |
| 262400 | ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA |
| 612781 | ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB |
| 173100 | ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II |
| 307200 | ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III |
| 243440 | ISOTRETINOIN EMBRYOPATHY-LIKE SYNDROME |
| 243450 | ISOVALERIC ACID, INABILITY TO SMELL |
| 243500 | ISOVALERIC ACIDEMIA |
| 147750 | IVIC SYNDROME |
| 123150 | JACKSON-WEISS SYNDROME |
| 147791 | JACOBSEN SYNDROME |
| 217080 | JALILI SYNDROME |
| 308600 | JAUNDICE, FAMILIAL OBSTRUCTIVE, OF INFANCY |
| 251255 | JAWAD SYNDROME |
| 243600 | JEJUNAL ATRESIA |
| 220400 | JERVELL AND LANGE-NIELSEN SYNDROME 1 |
| 612347 | JERVELL AND LANGE-NIELSEN SYNDROME 2 |
| 243800 | JOHANSON-BLIZZARD SYNDROME |
| 147770 | JOHNSON NEUROECTODERMAL SYNDROME |
| 147900 | JOINT LAXITY, FAMILIAL |
| 213300 | JOUBERT SYNDROME |
| 300804 | JOUBERT SYNDROME 10 |
| 614173 | JOUBERT SYNDROME 13 |
| 614424 | JOUBERT SYNDROME 14 |
| 614464 | JOUBERT SYNDROME 15 |
| 614465 | JOUBERT SYNDROME 16 |
| 614615 | JOUBERT SYNDROME 17 |
| 614815 | JOUBERT SYNDROME 18 |
| 608091 | JOUBERT SYNDROME 2 |
| 614970 | JOUBERT SYNDROME 20 |
| 615636 | JOUBERT SYNDROME 21 |
| 615665 | JOUBERT SYNDROME 22 |
| 608629 | JOUBERT SYNDROME 3 |
| 609583 | JOUBERT SYNDROME 4 |
| 610188 | JOUBERT SYNDROME 5 |
| 610688 | JOUBERT SYNDROME 6 |
| 611560 | JOUBERT SYNDROME 7 |
| 612291 | JOUBERT SYNDROME 8 |
| 612285 | JOUBERT SYNDROME 9 |
| 426000 | JUMONJI, AT-RICH INTERACTIVE DOMAIN 1D |
| 244100 | JUMPING FRENCHMAN OF MAINE |
| 607785 | JUVENILE MYELOMONOCYTIC LEUKEMIA |
| 174900 | JUVENILE POLYPOSIS SYNDROME |
| 175050 | JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME |
| 147920 | KABUKI SYNDROME |
| 300867 | KABUKI SYNDROME 2 |
| 612713 | KAHRIZI SYNDROME |
| 244200 | KALLMANN SYNDROME 3 |
| 610628 | KALLMANN SYNDROME 4 |
| 612370 | KALLMANN SYNDROME 5 |
| 612702 | KALLMANN SYNDROME 6 |
| 308750 | KALLMANN SYNDROME WITH SPASTIC PARAPLEGIA |
| 609242 | KANZAKI DISEASE |
| 148000 | KAPOSI SARCOMA |
| 244300 | KAPUR-TORIELLO SYNDROME |
| 244450 | KAUFMAN OCULOCEREBROFACIAL SYNDROME |
| 611775 | KAWASAKI DISEASE |
| 148050 | KBG SYNDROME |
| 530000 | KEARNS-SAYRE SYNDROME |
| 148100 | KELOIDS |
| 244460 | KENNY-CAFFEY SYNDROME, TYPE 1 |
| 127000 | KENNY-CAFFEY SYNDROME, TYPE 2 |
| 614098 | KEPPEN-LUBINSKY SYNDROME |
| 148200 | KERATITIS FUGAX HEREDITARIA |
| 148190 | KERATITIS, HEREDITARY |
| 148210 | KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT |
| 148300 | KERATOCONUS 1 |
| 614622 | KERATOCONUS 5 |
| 614623 | KERATOCONUS 6 |
| 614629 | KERATOCONUS 7 |
| 614628 | KERATOCONUS 8 |
| 244600 | KERATOCONUS POSTICUS CIRCUMSCRIPTUS |
| 244850 | KERATODERMA, PALMOPLANTAR, NORRBOTTEN RECESSIVE TYPE |
| 148600 | KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE I |
| 614936 | KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE IB |
| 175860 | KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE II |
| 148350 | KERATODERMA, PALMOPLANTAR, WITH DEAFNESS |
| 148360 | KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORY NEUROPATHY |
| 148370 | KERATOLYTIC WINTER ERYTHEMA |
| 308800 | KERATOSIS FOLLICULARIS SPINULOSA DECALVANS |
| 612843 | KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT |
| 308830 | KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY |
| 601952 | KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA |
| 148520 | KERATOSIS PALMARIS ET PLANTARIS WITH CLINODACTYLY |
| 148700 | KERATOSIS PALMOPLANTARIS STRIATA I |
| 612908 | KERATOSIS PALMOPLANTARIS STRIATA II |
| 607654 | KERATOSIS PALMOPLANTARIS STRIATA III |
| 604093 | KERATOSIS PILARIS |
| 148390 | KERATOSIS, FAMILIAL ACTINIC |
| 148730 | KERATOSIS, FOCAL PALMOPLANTAR AND GINGIVAL |
| 182000 | KERATOSIS, SEBORRHEIC |
| 245100 | KETOACIDURIA WITH MENTAL DEFICIENCY AND OTHER FEATURES |
| 245130 | KETOADIPICACIDURIA |
| 245150 | KEUTEL SYNDROME |
| 245180 | KIFAFA SEIZURE DISORDER |
| 173650 | KINDLER SYNDROME |
| 148800 | KLEEBLATTSCHAEDEL |
| 610253 | KLEEFSTRA SYNDROME |
| 148840 | KLEINE-LEVIN HIBERNATION SYNDROME |
| 118100 | KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT |
| 214300 | KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE |
| 613702 | KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT |
| 149000 | KLIPPEL-TRENAUNAY-WEBER SYNDROME |
| 156550 | KNIEST DYSPLASIA |
| 245160 | KNIEST-LIKE DYSPLASIA WITH PURSED LIPS AND ECTOPIA LENTIS |
| 245190 | KNIEST-LIKE DYSPLASIA, LETHAL |
| 267750 | KNOBLOCH SYNDROME 1 |
| 608454 | KNOBLOCH SYNDROME 2 |
| 611948 | KNOBLOCH SYNDROME, TYPE III |
| 149100 | KNUCKLE PADS |
| 149200 | KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS |
| 226750 | KOHLSCHUTTER-TONZ SYNDROME |
| 149300 | KOILONYCHIA, HEREDITARY |
| 262650 | KOWARSKI SYNDROME |
| 245200 | KRABBE DISEASE |
| 611722 | KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY |
| 606693 | KUFOR-RAKEB SYNDROME |
| 245300 | KURU, SUSCEPTIBILITY TO |
| 211350 | KYPHOMELIC DYSPLASIA |
| 149500 | KYRLE DISEASE |
| 236792 | L-2-HYDROXYGLUTARIC ACIDURIA |
| 615604 | L-FERRITIN DEFICIENCY |
| 149600 | LABIA MINORA, INCOMPLETE ADHESION OF |
| 149700 | LACRIMAL DUCT DEFECT |
| 149730 | LACRIMOAURICULODENTODIGITAL SYNDROME |
| 223000 | LACTASE DEFICIENCY, CONGENITAL |
| 614128 | LACTATE DEHYDROGENASE B DEFICIENCY |
| 150170 | LACTIC ACIDOSIS, CHRONIC ADULT FORM |
| 245450 | LACTIC ACIDURIA DUE TO D-LACTIC ACID |
| 223100 | LACTOSE INTOLERANCE, ADULT TYPE |
| 245550 | LAMBERT SYNDROME |
| 245552 | LAMBOTTE SYNDROME |
| 249700 | LANGER MESOMELIC DYSPLASIA |
| 262500 | LARON SYNDROME |
| 150250 | LARSEN SYNDROME |
| 245600 | LARSEN SYNDROME, AUTOSOMAL RECESSIVE |
| 608545 | LARSEN-LIKE SYNDROME |
| 245650 | LARSEN-LIKE SYNDROME, LETHAL TYPE |
| 150260 | LARYNGEAL ABDUCTOR PARALYSIS |
| 308850 | LARYNGEAL ABDUCTOR PARALYSIS |
| 606183 | LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY |
| 150270 | LARYNGEAL ADDUCTOR PARALYSIS |
| 150360 | LARYNGEAL WEB, FAMILIAL |
| 150280 | LARYNGOMALACIA |
| 245660 | LARYNGOONYCHOCUTANEOUS SYNDROME |
| 150300 | LARYNX, CONGENITAL PARTIAL ATRESIA OF |
| 605670 | LATE-ONSET RETINAL DEGENERATION |
| 130720 | LATERAL MENINGOCELE SYNDROME |
| 601086 | LATERALITY DEFECTS, AUTOSOMAL DOMINANT |
| 607330 | LATHOSTEROLOSIS |
| 150500 | LATTICE DEGENERATION OF RETINA LEADING TO RETINAL DETACHMENT |
| 245800 | LAURENCE-MOON SYNDROME |
| 135750 | LAURIN-SANDROW SYNDROME |
| 150550 | LAZY LEUKOCYTE SYNDROME |
| 204000 | LEBER CONGENITAL AMAUROSIS 1 |
| 611755 | LEBER CONGENITAL AMAUROSIS 10 |
| 613837 | LEBER CONGENITAL AMAUROSIS 11 |
| 610612 | LEBER CONGENITAL AMAUROSIS 12 |
| 612712 | LEBER CONGENITAL AMAUROSIS 13 |
| 613341 | LEBER CONGENITAL AMAUROSIS 14 |
| 613843 | LEBER CONGENITAL AMAUROSIS 15 |
| 614186 | LEBER CONGENITAL AMAUROSIS 16 |
| 615360 | LEBER CONGENITAL AMAUROSIS 17 |
| 204100 | LEBER CONGENITAL AMAUROSIS 2 |
| 604232 | LEBER CONGENITAL AMAUROSIS 3 |
| 604393 | LEBER CONGENITAL AMAUROSIS 4 |
| 604537 | LEBER CONGENITAL AMAUROSIS 5 |
| 613826 | LEBER CONGENITAL AMAUROSIS 6 |
| 613829 | LEBER CONGENITAL AMAUROSIS 7 |
| 613835 | LEBER CONGENITAL AMAUROSIS 8 |
| 608553 | LEBER CONGENITAL AMAUROSIS 9 |
| 535000 | LEBER OPTIC ATROPHY |
| 500001 | LEBER OPTIC ATROPHY AND DYSTONIA |
| 308905 | LEBER OPTIC ATROPHY, SUSCEPTIBILITY TO |
| 245900 | LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY |
| 604169 | LEFT VENTRICULAR NONCOMPACTION 1 |
| 615396 | LEFT VENTRICULAR NONCOMPACTION 10 |
| 615092 | LEFT VENTRICULAR NONCOMPACTION 7 |
| 615373 | LEFT VENTRICULAR NONCOMPACTION 8 |
| 150590 | LEG ULCERS, FAMILIAL, OF JUVENILE ONSET |
| 246000 | LEG, ABSENCE DEFORMITY OF, WITH CONGENITAL CATARACT |
| 150600 | LEGG-CALVE-PERTHES DISEASE |
| 611431 | LEGIUS SYNDROME |
| 256000 | LEIGH SYNDROME |
| 220111 | LEIGH SYNDROME, FRENCH CANADIAN TYPE |
| 308930 | LEIGH SYNDROME, X-LINKED |
| 150700 | LEIOMYOMA OF VULVA AND ESOPHAGUS |
| 150699 | LEIOMYOMA, UTERINE |
| 605839 | LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY |
| 308940 | LEIOMYOMATOSIS, DIFFUSE, WITH ALPORT SYNDROME |
| 602068 | LEISHMANIASIS, TEGUMENTARY, SUSCEPTIBILITY TO |
| 608290 | LELIS SYNDROME |
| 150900 | LENTIGINES |
| 151000 | LENTIGINOSIS, CENTROFACIAL NEURODYSRAPHIC |
| 151001 | LENTIGINOSIS, INHERITED PATTERNED |
| 151050 | LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM |
| 151100 | LEOPARD SYNDROME 1 |
| 611554 | LEOPARD SYNDROME 2 |
| 613707 | LEOPARD SYNDROME 3 |
| 246300 | LEPROSY, SUSCEPTIBILITY TO, 3 |
| 614962 | LEPTIN DEFICIENCY |
| 614963 | LEPTIN RECEPTOR DEFICIENCY |
| 127300 | LERI-WEILL DYSCHONDROSTEOSIS |
| 308950 | LESCH-NYHAN PHENOTYPE WITH NORMAL HGPRT |
| 300322 | LESCH-NYHAN SYNDROME |
| 611890 | LETHAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE |
| 611369 | LETHAL CONGENITAL CONTRACTURAL SYNDROME 3 |
| 253310 | LETHAL CONGENITAL CONTRACTURE SYNDROME 1 |
| 607598 | LETHAL CONGENITAL CONTRACTURE SYNDROME 2 |
| 614915 | LETHAL CONGENITAL CONTRACTURE SYNDROME 4 |
| 615368 | LETHAL CONGENITAL CONTRACTURE SYNDROME 5 |
| 601356 | LETHAL SHORT-LIMB SKELETAL DYSPLASIA, AL GAZALI TYPE |
| 246400 | LETTERER-SIWE DISEASE |
| 151380 | LEUKEMIA, ACUTE MONOCYTIC |
| 246470 | LEUKEMIA, ACUTE MYELOCYTIC, WITH POLYPOSIS COLI AND COLON CANCER |
| 601626 | LEUKEMIA, ACUTE MYELOID |
| 308960 | LEUKEMIA, ACUTE, ?X-LINKED |
| 151400 | LEUKEMIA, CHRONIC LYMPHOCYTIC |
| 109543 | LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 2 |
| 608232 | LEUKEMIA, CHRONIC MYELOID |
| 151440 | LEUKEMIA, LYMPHOID, 1 |
| 151441 | LEUKEMIA/LYMPHOMA, CHRONIC B-CELL, 5 |
| 116920 | LEUKOCYTE ADHESION DEFICIENCY, TYPE I |
| 612840 | LEUKOCYTE ADHESION DEFICIENCY, TYPE III |
| 151500 | LEUKOCYTE NUCLEAR APPENDAGES, HEREDITARY PREVALENCE OF |
| 169500 | LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT |
| 607694 | LEUKODYSTROPHY, DYSMYELINATING, WITH OLIGODONTIA |
| 608804 | LEUKODYSTROPHY, HYPOMYELINATING, 2 |
| 260600 | LEUKODYSTROPHY, HYPOMYELINATING, 3 |
| 612233 | LEUKODYSTROPHY, HYPOMYELINATING, 4 |
| 610532 | LEUKODYSTROPHY, HYPOMYELINATING, 5 |
| 612438 | LEUKODYSTROPHY, HYPOMYELINATING, 6 |
| 614381 | LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM |
| 615651 | LEUKOENCEPHALOPATHY WITH ATAXIA |
| 611105 | LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION |
| 613724 | LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY |
| 300660 | LEUKOENCEPHALOPATHY WITH METAPHYSEAL CHONDRODYSPLASIA |
| 603896 | LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER |
| 608809 | LEUKOENCEPHALOPATHY, ARTHRITIS, COLITIS, AND HYPOGAMMAGLOBULINEMA |
| 614561 | LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS |
| 612951 | LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY |
| 246500 | LEUKOMELANODERMA, INFANTILISM, MENTAL RETARDATION, HYPODONTIA, HYPOTRICHOSIS |
| 151600 | LEUKONYCHIA TOTALIS |
| 614037 | LEUKOTRIENE C4 SYNTHASE DEFICIENCY |
| 151610 | LEVATOR-MEDIAL RECTUS SYNKINESIS |
| 238320 | LEYDIG CELL HYPOPLASIA, TYPE I |
| 151623 | LI-FRAUMENI SYNDROME 1 |
| 609265 | LI-FRAUMENI SYNDROME 2 |
| 151620 | LICHEN PLANUS, FAMILIAL |
| 151590 | LICHEN SCLEROSUS ET ATROPHICUS |
| 246550 | LICHTENSTEIN SYNDROME |
| 177200 | LIDDLE SYNDROME |
| 186550 | LIEBENBERG SYNDROME |
| 606593 | LIG4 SYNDROME |
| 246555 | LIMB DEFECTS, DISTAL TRANSVERSE, WITH MENTAL RETARDATION AND SPASTICITY |
| 246560 | LIMB DEFICIENCIES, DISTAL, WITH MICROGNATHIA |
| 609115 | LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G |
| 603543 | LIMB-MAMMARY SYNDROME |
| 247150 | LIP PRINTS |
| 151640 | LIP, HAMARTOMATOUS |
| 151630 | LIP, MEDIAN NODULE OF UPPER |
| 613497 | LIPASE A, LYSOSOMAL ACID |
| 247980 | LIPASE B, LYSOSOMAL ACID |
| 246650 | LIPASE DEFICIENCY, COMBINED |
| 614103 | LIPEDEMA |
| 606721 | LIPODYSTROPHY WITH CONGENITAL CATARACTS AND NEURODEGENERATION |
| 608594 | LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 |
| 269700 | LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 |
| 612526 | LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3 |
| 613327 | LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 |
| 608600 | LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 1 |
| 151660 | LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 |
| 604367 | LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3 |
| 613877 | LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4 |
| 615238 | LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5 |
| 608154 | LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT STATURE, AND SLENDER BONES |
| 608709 | LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO |
| 613913 | LIPODYSTROPHY, PARTIAL, ACQUIRED, WITH LOW COMPLEMENT COMPONENT C3, WITH OR WITHOUT GLOMERULONEPHRITIS |
| 201710 | LIPOID CONGENITAL ADRENAL HYPERPLASIA |
| 247100 | LIPOID PROTEINOSIS OF URBACH AND WIETHE |
| 151700 | LIPOMA OF THE CONJUNCTIVA |
| 151900 | LIPOMATOSIS, MULTIPLE |
| 151800 | LIPOMATOSIS, MULTIPLE SYMMETRIC |
| 611771 | LIPOPROTEIN GLOMERULOPATHY |
| 607432 | LISSENCEPHALY 1 |
| 257320 | LISSENCEPHALY 2 |
| 611603 | LISSENCEPHALY 3 |
| 614019 | LISSENCEPHALY 4 |
| 615191 | LISSENCEPHALY 5 |
| 601160 | LISSENCEPHALY TYPE III AND BONE DYSPLASIA |
| 300067 | LISSENCEPHALY, X-LINKED, 1 |
| 300215 | LISSENCEPHALY, X-LINKED, 2 |
| 152420 | LITHIUM TRANSPORT |
| 613070 | LIVER FAILURE, ACUTE INFANTILE |
| 152460 | LOBULAR GLOMERULOPATHY, FAMILIAL |
| 609192 | LOEYS-DIETZ SYNDROME 1 |
| 610168 | LOEYS-DIETZ SYNDROME 2 |
| 613795 | LOEYS-DIETZ SYNDROME 3 |
| 614816 | LOEYS-DIETZ SYNDROME 4 |
| 608967 | LOEYS-DIETZ SYNDROME, TYPE 2A |
| 610380 | LOEYS-DIETZ SYNDROME, TYPE 2B |
| 192500 | LONG QT SYNDROME 1 |
| 611819 | LONG QT SYNDROME 10 |
| 611820 | LONG QT SYNDROME 11 |
| 612955 | LONG QT SYNDROME 12 |
| 613485 | LONG QT SYNDROME 13 |
| 613688 | LONG QT SYNDROME 2 |
| 603830 | LONG QT SYNDROME 3 |
| 613695 | LONG QT SYNDROME 5 |
| 613693 | LONG QT SYNDROME 6 |
| 611818 | LONG QT SYNDROME 9 |
| 609016 | LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY |
| 600628 | LOOSE ANAGEN HAIR SYNDROME |
| 606945 | LOW DENSITY LIPOPROTEIN RECEPTOR |
| 309000 | LOWE OCULOCEREBRORENAL SYNDROME |
| 600252 | LOWRY-MACLEAN SYNDROME |
| 300260 | LUBS X-LINKED MENTAL RETARDATION SYNDROME |
| 309520 | LUJAN-FRYNS SYNDROME |
| 152550 | LUMBAR STENOSIS, FAMILIAL |
| 265430 | LUNG AGENESIS |
| 601612 | LUNG AGENESIS |
| 211980 | LUNG CANCER |
| 152600 | LUNULAE OF FINGERNAILS |
| 152780 | LUTEINIZING HORMONE, BETA POLYPEPTIDE |
| 247420 | LUTHERAN NULL |
| 309050 | LUTHERAN SUPPRESSOR, X-LINKED |
| 152800 | LYMPHANGIECTASIA, INTESTINAL |
| 265300 | LYMPHANGIECTASIA, PULMONARY, CONGENITAL |
| 606690 | LYMPHANGIOLEIOMYOMATOSIS |
| 152900 | LYMPHEDEMA AND CEREBRAL ARTERIOVENOUS ANOMALY |
| 601927 | LYMPHEDEMA, CARDIAC SEPTAL DEFECTS, AND CHARACTERISTIC FACIES |
| 247440 | LYMPHEDEMA, CONGENITAL RECESSIVE |
| 153100 | LYMPHEDEMA, HEREDITARY, IA |
| 611944 | LYMPHEDEMA, HEREDITARY, IB |
| 613480 | LYMPHEDEMA, HEREDITARY, IC |
| 153200 | LYMPHEDEMA, HEREDITARY, II |
| 152950 | LYMPHEDEMA, MICROCEPHALY, CHORIORETINOPATHY SYNDROME |
| 614038 | LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA |
| 153400 | LYMPHEDEMA-DISTICHIASIS SYNDROME |
| 247410 | LYMPHEDEMA-HYPOPARATHYROIDISM SYNDROME |
| 247640 | LYMPHOBLASTIC LEUKEMIA, ACUTE, WITH LYMPHOMATOUS FEATURES |
| 247430 | LYMPHOBLASTIC TRANSFORMATION, INHIBITION OF |
| 247450 | LYMPHOBLASTIC TRANSFORMATION, INTRINSIC DEFECT IN |
| 247610 | LYMPHOID INTERSTITIAL PNEUMONIA |
| 247630 | LYMPHOID SYSTEM DETERIORATION, PROGRESSIVE |
| 247650 | LYMPHOKINE DEFICIENCY |
| 605027 | LYMPHOMA, NON-HODGKIN, FAMILIAL |
| 247800 | LYMPHOPENIC HYPERGAMMAGLOBULINEMIA, ANTIBODY DEFICIENCY, AUTOIMMUNE HEMOLYTIC ANEMIA, AND GLOMERULONEPHRITIS |
| 613011 | LYMPHOPROLIFERATIVE SYNDROME 1 |
| 615122 | LYMPHOPROLIFERATIVE SYNDROME 2 |
| 308240 | LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 |
| 300635 | LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2 |
| 120435 | LYNCH SYNDROME I |
| 247950 | LYSINE MALABSORPTION SYNDROME |
| 159555 | LYSINE-SPECIFIC METHYLTRANSFERASE 2A |
| 602113 | LYSINE-SPECIFIC METHYLTRANSFERASE 2D |
| 222700 | LYSINURIC PROTEIN INTOLERANCE |
| 278000 | LYSOSOMAL ACID LIPASE DEFICIENCY |
| 247990 | MACDERMOT-WINTER SYNDROME |
| 109150 | MACHADO-JOSEPH DISEASE |
| 248000 | MACROCEPHALY |
| 607131 | MACROCEPHALY WITH MULTIPLE EPIPHYSEAL DYSPLASIA AND DISTINCTIVE FACIES |
| 613075 | MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS |
| 153470 | MACROCEPHALY, BENIGN FAMILIAL |
| 614192 | MACROCEPHALY, MACROSOMIA, FACIAL DYSMORPHISM SYNDROME |
| 602501 | MACROCEPHALY-CAPILLARY MALFORMATION |
| 605309 | MACROCEPHALY/AUTISM SYNDROME |
| 600084 | MACROCYTOSIS, FAMILIAL |
| 248010 | MACROEPIPHYSEAL DYSPLASIA WITH OSTEOPOROSIS, WRINKLED SKIN, AND AGED APPEARANCE |
| 153600 | MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1 |
| 153630 | MACROGLOSSIA |
| 248100 | MACROSOMIA ADIPOSA CONGENITA |
| 248110 | MACROSOMIA WITH MICROPHTHALMIA, LETHAL |
| 600208 | MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS |
| 613112 | MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED |
| 611953 | MACULAR DEGENERATION, AGE-RELATED, 11 |
| 615439 | MACULAR DEGENERATION, AGE-RELATED, 13 |
| 153800 | MACULAR DEGENERATION, AGE-RELATED, 2 |
| 608895 | MACULAR DEGENERATION, AGE-RELATED, 3 |
| 610698 | MACULAR DEGENERATION, AGE-RELATED, 4 |
| 613757 | MACULAR DEGENERATION, AGE-RELATED, 6 |
| 300834 | MACULAR DEGENERATION, X-LINKED ATROPHIC |
| 153840 | MACULAR DYSTROPHY, ATYPICAL VITELLIFORM |
| 153870 | MACULAR DYSTROPHY, CONCENTRIC ANNULAR |
| 217800 | MACULAR DYSTROPHY, CORNEAL, 1 |
| 153890 | MACULAR DYSTROPHY, FENESTRATED SHEEN TYPE |
| 136550 | MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE |
| 608051 | MACULAR DYSTROPHY, RETINAL, 2 |
| 153700 | MACULAR DYSTROPHY, VITELLIFORM |
| 608161 | MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET |
| 309100 | MACULAR DYSTROPHY, X-LINKED |
| 153880 | MACULAR EDEMA, CYSTOID |
| 154000 | MACULES, HEREDITARY CONGENITAL HYPOPIGMENTED AND HYPERPIGMENTED |
| 614569 | MAFFUCCI SYNDROME |
| 248260 | MAGNESIUM, ELEVATED RED CELL |
| 266920 | MAINZER-SALDINO SYNDROME |
| 609628 | MAJEED SYNDROME |
| 125480 | MAJOR AFFECTIVE DISORDER 1 |
| 309200 | MAJOR AFFECTIVE DISORDER 2 |
| 248300 | MAL DE MELEDA |
| 309120 | MALE INFERTILITY FROM DEFECT IN MEIOSIS |
| 612997 | MALE INFERTILITY, NONSYNDROMIC, AUTOSOMAL RECESSIVE |
| 600122 | MALE PSEUDOHERMAPHRODITISM/MENTAL RETARDATION SYNDROME, VERLOES TYPE |
| 309150 | MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE |
| 602248 | MALIGNANT ATROPHIC PAPULOSIS |
| 145600 | MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 |
| 154275 | MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2 |
| 600467 | MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 4 |
| 154300 | MALOCCLUSION DUE TO PROTUBERANT UPPER FRONT TEETH |
| 248360 | MALONYL-CoA DECARBOXYLASE DEFICIENCY |
| 189490 | MALPOSITION OF TEETH WITH OR WITHOUT HYPODONTIA/OLIGODONTIA |
| 613689 | MAMMARY-DIGITAL-NAIL SYNDROME |
| 615381 | MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME |
| 248370 | MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY |
| 608612 | MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY |
| 602562 | MANDIBULOFACIAL DYSOSTOSIS WITH MACROBLEPHARON AND MACROSTOMIA |
| 248400 | MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL DEFICIENCY |
| 608257 | MANDIBULOFACIAL DYSOSTOSIS WITH PTOSIS, AUTOSOMAL DOMINANT |
| 248390 | MANDIBULOFACIAL DYSOSTOSIS, TREACHER COLLINS TYPE, AUTOSOMAL RECESSIVE |
| 248450 | MANITOBA OCULOTRICHOANAL SYNDROME |
| 154570 | MANNOSE 6-PHOSPHATE RECEPTOR RECOGNITION DEFECT, LEBANESE TYPE |
| 248500 | MANNOSIDOSIS, ALPHA B, LYSOSOMAL |
| 248510 | MANNOSIDOSIS, BETA A, LYSOSOMAL |
| 248600 | MAPLE SYRUP URINE DISEASE |
| 154600 | MARCUS GUNN PHENOMENON |
| 248700 | MARDEN-WALKER SYNDROME |
| 154700 | MARFAN SYNDROME |
| 248760 | MARFANOID HABITUS WITH MICROCEPHALY AND GLOMERULONEPHRITIS |
| 609008 | MARFANOID HABITUS WITH SITUS INVERSUS |
| 154750 | MARFANOID HYPERMOBILITY SYNDROME |
| 248770 | MARFANOID MENTAL RETARDATION SYNDROME, AUTOSOMAL |
| 248800 | MARINESCO-SJOGREN SYNDROME |
| 154780 | MARSHALL SYNDROME |
| 602535 | MARSHALL-SMITH SYNDROME |
| 300519 | MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME |
| 601346 | MARTINEZ-FRIAS SYNDROME |
| 212720 | MARTSOLF SYNDROME |
| 303350 | MASA SYNDROME |
| 613791 | MASP2 DEFICIENCY |
| 604308 | MASS SYNDROME |
| 154800 | MAST CELL DISEASE |
| 248900 | MAST SYNDROME |
| 154850 | MASTICATORY MUSCLES, HYPERTROPHY OF |
| 125850 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1 |
| 613370 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10 |
| 613375 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11 |
| 125851 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2 |
| 600496 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 |
| 606392 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4 |
| 606394 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6 |
| 610508 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7 |
| 609812 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION |
| 612225 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 |
| 155000 | MAXILLOFACIAL DYSOSTOSIS |
| 155050 | MAXILLONASAL DYSPLASIA, BINDER TYPE |
| 155100 | MAY-HEGGLIN ANOMALY |
| 277000 | MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME |
| 174800 | MCCUNE-ALBRIGHT SYNDROME |
| 248950 | MCDONOUGH SYNDROME |
| 311030 | MCF.2 CELL LINE-DERIVED TRANSFORMING SEQUENCE |
| 236700 | MCKUSICK-KAUFMAN SYNDROME |
| 300842 | MCLEOD SYNDROME |
| 608978 | MEACHAM SYNDROME |
| 155140 | MECKEL DIVERTICULUM |
| 249000 | MECKEL SYNDROME, TYPE 1 |
| 614175 | MECKEL SYNDROME, TYPE 10 |
| 615397 | MECKEL SYNDROME, TYPE 11 |
| 603194 | MECKEL SYNDROME, TYPE 2 |
| 607361 | MECKEL SYNDROME, TYPE 3 |
| 611134 | MECKEL SYNDROME, TYPE 4 |
| 611561 | MECKEL SYNDROME, TYPE 5 |
| 612284 | MECKEL SYNDROME, TYPE 6 |
| 267010 | MECKEL SYNDROME, TYPE 7 |
| 613885 | MECKEL SYNDROME, TYPE 8 |
| 614209 | MECKEL SYNDROME, TYPE 9 |
| 614665 | MECONIUM ILEUS |
| 155150 | MEDIAN-ULNAR NERVE COMMUNICATIONS |
| 155200 | MEDIOSTERNAL DEPIGMENTATION LINE |
| 602199 | MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY |
| 174000 | MEDULLARY CYSTIC KIDNEY DISEASE 1 |
| 603860 | MEDULLARY CYSTIC KIDNEY DISEASE 2 |
| 155255 | MEDULLOBLASTOMA |
| 249210 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME |
| 155310 | MEGADUODENUM AND/OR MEGACYSTIS |
| 249230 | MEGAEPIPHYSEAL DWARFISM |
| 603387 | MEGALANECEPHALY POLYMICROGYRIA-POLYDACTYLY HYDROCEPHALUS SYNDROME |
| 604004 | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 |
| 613925 | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A |
| 613926 | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION |
| 155350 | MEGALENCEPHALY |
| 249240 | MEGALENCEPHALY WITH DYSMYELINATION |
| 261100 | MEGALOBLASTIC ANEMIA 1 |
| 613839 | MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY |
| 249300 | MEGALOCORNEA |
| 309300 | MEGALOCORNEA |
| 249310 | MEGALOCORNEA-MENTAL RETARDATION SYNDROME |
| 155500 | MEGALODACTYLY |
| 224690 | MEIER-GORLIN SYNDROME 1 |
| 613800 | MEIER-GORLIN SYNDROME 2 |
| 613803 | MEIER-GORLIN SYNDROME 3 |
| 613804 | MEIER-GORLIN SYNDROME 4 |
| 613805 | MEIER-GORLIN SYNDROME 5 |
| 155600 | MELANOMA, CUTANEOUS MALIGNANT |
| 155601 | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 |
| 609048 | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 |
| 614456 | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 |
| 155700 | MELANOMA, MALIGNANT FAMILIAL INTRAOCULAR |
| 155720 | MELANOMA, UVEAL |
| 155755 | MELANOMA-ASTROCYTOMA SYNDROME |
| 606719 | MELANOMA-PANCREATIC CANCER SYNDROME |
| 249400 | MELANOSIS, NEUROCUTANEOUS |
| 155800 | MELANOSIS, UNIVERSAL |
| 155900 | MELKERSSON-ROSENTHAL SYNDROME |
| 309350 | MELNICK-NEEDLES SYNDROME |
| 155950 | MELORHEOSTOSIS |
| 305800 | MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS, X-LINKED |
| 155980 | MEMBRANOUS CRANIAL OSSIFICATION, DELAYED |
| 156000 | MENIERE DISEASE |
| 607174 | MENINGIOMA, FAMILIAL |
| 309400 | MENKES DISEASE |
| 300488 | MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 1 |
| 156190 | MENTAL AND GROWTH RETARDATION WITH AMBLYOPIA |
| 603663 | MENTAL HEALTH WELLNESS 1 |
| 300749 | MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA |
| 309480 | MENTAL RETARDATION ASSOCIATED WITH PSORIASIS |
| 249599 | MENTAL RETARDATION SYNDROME, BELGIAN TYPE |
| 249600 | MENTAL RETARDATION SYNDROME, MIETENS-WEBER TYPE |
| 613670 | MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES |
| 309555 | MENTAL RETARDATION WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES |
| 609037 | MENTAL RETARDATION WITH OPTIC ATROPHY, FACIAL DYSMORPHISM, MICROCEPHALY, AND SHORT STATURE |
| 309640 | MENTAL RETARDATION WITH SPASTIC PARAPLEGIA |
| 309560 | MENTAL RETARDATION WITH SPASTIC PARAPLEGIA AND PALMOPLANTAR HYPERKERATOSIS |
| 613671 | MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS |
| 156200 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 |
| 614256 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 10 |
| 614257 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 11 |
| 614562 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 |
| 614563 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 |
| 614607 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 14 |
| 614608 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 |
| 614609 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 16 |
| 615009 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 |
| 615074 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 |
| 615075 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 |
| 614113 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 2 |
| 613443 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 |
| 615502 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 |
| 615761 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 |
| 612580 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 3 |
| 612581 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 4 |
| 612621 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 |
| 613970 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 |
| 614104 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 |
| 614254 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 8 |
| 614255 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 |
| 249500 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 |
| 611090 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 |
| 613192 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 |
| 614020 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14 |
| 614202 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 |
| 614249 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 |
| 607417 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2 |
| 614340 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 |
| 608443 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3 |
| 614329 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 31 |
| 614499 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34 |
| 615162 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 35 |
| 615286 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 |
| 615493 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37 |
| 615516 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 |
| 615541 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 |
| 615599 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 |
| 615637 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 |
| 611091 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 |
| 611092 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 |
| 611093 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 |
| 611095 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 9 |
| 249630 | MENTAL RETARDATION, BUENOS AIRES TYPE |
| 249620 | MENTAL RETARDATION, CONGENITAL HEART DISEASE, BLEPHAROPHIMOSIS, BLEPHAROPTOSIS, AND HYPOPLASTIC TEETH |
| 300148 | MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY |
| 136630 | MENTAL RETARDATION, FRA12A TYPE |
| 612652 | MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH OR WITHOUT METABOLIC ABNORMALITIES |
| 609438 | MENTAL RETARDATION, KERATOCONUS, FEBRILE SEIZURES, AND SINOATRIAL BLOCK |
| 601352 | MENTAL RETARDATION, MICROCEPHALY, EPILEPSY, AND COARSE FACE |
| 606242 | MENTAL RETARDATION, MICROCEPHALY, GROWTH RETARDATION, JOINT CONTRACTURES, AND FACIAL DYSMORPHISM |
| 606772 | MENTAL RETARDATION, OBESITY, MANDIBULAR PROGNATHISM, AND EYE AND SKIN ANOMALIES |
| 309620 | MENTAL RETARDATION, SKELETAL DYSPLASIA, AND ABDUCENS PALSY |
| 610156 | MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS |
| 309530 | MENTAL RETARDATION, X-LINKED 1 |
| 300062 | MENTAL RETARDATION, X-LINKED 14 |
| 300705 | MENTAL RETARDATION, X-LINKED 17 |
| 300844 | MENTAL RETARDATION, X-LINKED 19 |
| 300047 | MENTAL RETARDATION, X-LINKED 20 |
| 300143 | MENTAL RETARDATION, X-LINKED 21 |
| 300046 | MENTAL RETARDATION, X-LINKED 23 |
| 309541 | MENTAL RETARDATION, X-LINKED 3 |
| 300558 | MENTAL RETARDATION, X-LINKED 30 |
| 300849 | MENTAL RETARDATION, X-LINKED 41 |
| 300498 | MENTAL RETARDATION, X-LINKED 45 |
| 300436 | MENTAL RETARDATION, X-LINKED 46 |
| 300114 | MENTAL RETARDATION, X-LINKED 49 |
| 300115 | MENTAL RETARDATION, X-LINKED 50 |
| 300210 | MENTAL RETARDATION, X-LINKED 58 |
| 300387 | MENTAL RETARDATION, X-LINKED 63 |
| 300271 | MENTAL RETARDATION, X-LINKED 72 |
| 300355 | MENTAL RETARDATION, X-LINKED 73 |
| 300852 | MENTAL RETARDATION, X-LINKED 88 |
| 300848 | MENTAL RETARDATION, X-LINKED 89 |
| 309549 | MENTAL RETARDATION, X-LINKED 9 |
| 300850 | MENTAL RETARDATION, X-LINKED 90 |
| 300577 | MENTAL RETARDATION, X-LINKED 91 |
| 300851 | MENTAL RETARDATION, X-LINKED 92 |
| 300659 | MENTAL RETARDATION, X-LINKED 93 |
| 300699 | MENTAL RETARDATION, X-LINKED 94 |
| 300716 | MENTAL RETARDATION, X-LINKED 95 |
| 300802 | MENTAL RETARDATION, X-LINKED 96 |
| 300803 | MENTAL RETARDATION, X-LINKED 97 |
| 300912 | MENTAL RETARDATION, X-LINKED 98 |
| 300919 | MENTAL RETARDATION, X-LINKED 99 |
| 309548 | MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE |
| 309583 | MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE |
| 300220 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 10 |
| 300238 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 11 |
| 309545 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 12 |
| 300055 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 |
| 300676 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 |
| 300858 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 17 |
| 300886 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 32 |
| 300218 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 7 |
| 300709 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 9 |
| 300243 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE |
| 300861 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHUDLEY-SCHWARTZ TYPE |
| 300534 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE |
| 300423 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE |
| 300860 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE |
| 300706 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE |
| 300799 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, ZDHHC9-RELATED |
| 300486 | MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE |
| 300064 | MENTAL RETARDATION, X-LINKED, WITH CRANIOFACIAL DYSMORPHISM |
| 300419 | MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED |
| 300123 | MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISM |
| 300360 | MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE |
| 300354 | MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT |
| 309580 | MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 |
| 156220 | MERALGIA PARAESTHETICA, FAMILIAL |
| 249650 | MERCAPTOLACTATE-CYSTEINE DISULFIDURIA |
| 249660 | MESANGIAL SCLEROSIS, DIFFUSE RENAL, WITH OCULAR ABNORMALITIES |
| 249670 | MESOAXIAL HEXADACTYLY AND CARDIAC MALFORMATION |
| 600383 | MESOMELIA-SYNOSTOSES SYNDROME |
| 156230 | MESOMELIC DWARFISM OF HYPOPLASTIC TIBIA AND RADIUS TYPE |
| 156232 | MESOMELIC DYSPLASIA, KANTAPUTRA TYPE |
| 605274 | MESOMELIC DYSPLASIA, SAVARIRAYAN TYPE |
| 249710 | MESOMELIC LIMB SHORTENING AND BOWING |
| 156240 | MESOTHELIOMA, MALIGNANT |
| 309630 | METACARPAL 4-5 FUSION |
| 156250 | METACHONDROMATOSIS |
| 250100 | METACHROMATIC LEUKODYSTROPHY |
| 249900 | METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY |
| 156310 | METACHROMATIC LEUKODYSTROPHY, ADULT-ONSET, WITH NORMAL ARYLSULFATASE A |
| 250215 | METAPHYSEAL ACROSCYPHODYSPLASIA |
| 309645 | METAPHYSEAL ANADYSPLASIA |
| 613073 | METAPHYSEAL ANADYSPLASIA 2 |
| 250410 | METAPHYSEAL CHONDRODYSPLASIA WITH RETINITIS PIGMENTOSA |
| 156400 | METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE |
| 250230 | METAPHYSEAL CHONDRODYSPLASIA, KAITILA TYPE |
| 250300 | METAPHYSEAL CHONDRODYSPLASIA, PENA TYPE |
| 156500 | METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE |
| 250400 | METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE |
| 250420 | METAPHYSEAL DYSOSTOSIS, MENTAL RETARDATION, AND CONDUCTIVE DEAFNESS |
| 156510 | METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA AND BRACHYDACTYLY |
| 250460 | METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS |
| 250450 | METAPHYSEAL DYSPLASIA, ANETODERMA, AND OPTIC ATROPHY |
| 250500 | METAPHYSEAL MODELING ABNORMALITY, SKIN LESIONS, AND SPASTIC PARAPLEGIA |
| 156520 | METATARSUS VARUS, TYPE I |
| 250600 | METATROPIC DWARFISM |
| 156530 | METATROPIC DYSPLASIA |
| 250650 | METHANE PRODUCTION |
| 250700 | METHEMOGLOBIN REDUCTASE DEFICIENCY |
| 250800 | METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE |
| 250790 | METHEMOGLOBINEMIA TYPE IV |
| 250850 | METHIONINE ADENOSYLTRANSFERASE DEFICIENCY |
| 250900 | METHIONINE MALABSORPTION SYNDROME |
| 614105 | METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY |
| 277400 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE |
| 277410 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE |
| 277380 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE |
| 614857 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE |
| 251000 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY |
| 613646 | METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT |
| 251100 | METHYLMALONIC ACIDURIA, cblA TYPE |
| 251110 | METHYLMALONIC ACIDURIA, cblB TYPE |
| 251120 | METHYLMALONYL-CoA EPIMERASE DEFICIENCY |
| 610377 | MEVALONIC ACIDURIA |
| 609326 | MICRO RNA 1-1 |
| 611774 | MICRO RNA 128-1 |
| 611769 | MICRO RNA 128-2 |
| 610254 | MICRO RNA 133A1 |
| 610255 | MICRO RNA 133A2 |
| 610567 | MICRO RNA 146B |
| 609704 | MICRO RNA 16-1 |
| 612742 | MICRO RNA 181A1 |
| 612743 | MICRO RNA 181A2 |
| 612744 | MICRO RNA 181B1 |
| 612745 | MICRO RNA 181B2 |
| 611607 | MICRO RNA 182 |
| 610718 | MICRO RNA 195 |
| 610942 | MICRO RNA 204 |
| 611116 | MICRO RNA 208 |
| 613613 | MICRO RNA 208B |
| 611020 | MICRO RNA 21 |
| 300865 | MICRO RNA 503 |
| 611606 | MICRO RNA 96 |
| 607561 | MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM WITH TOOTH ABNORMALITIES |
| 210710 | MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I |
| 210720 | MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II |
| 210730 | MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III |
| 251190 | MICROCEPHALIC PRIMORDIAL DWARFISM, TORIELLO TYPE |
| 251200 | MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE |
| 615095 | MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE |
| 615414 | MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE |
| 604317 | MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS |
| 604804 | MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE |
| 604321 | MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE |
| 608716 | MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE |
| 608393 | MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE |
| 612703 | MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE |
| 614673 | MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE |
| 614852 | MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE |
| 251250 | MICROCEPHALY WITH CERVICAL SPINE FUSION ANOMALIES |
| 251240 | MICROCEPHALY WITH CHEMOTACTIC DEFECT AND TRANSIENT HYPOGAMMAGLOBULINEMIA |
| 251270 | MICROCEPHALY WITH CHORIORETINOPATHY, AUTOSOMAL RECESSIVE |
| 251280 | MICROCEPHALY WITH SPASTIC QUADRIPLEGIA |
| 607196 | MICROCEPHALY, AMISH TYPE |
| 156580 | MICROCEPHALY, AUTOSOMAL DOMINANT |
| 614407 | MICROCEPHALY, CEREBELLAR HYPOPLASIA, AND CARDIAC CONDUCTION DEFECT SYNDROME |
| 601355 | MICROCEPHALY, CONGENITAL HEART DISEASE, UNILATERAL RENAL AGENESIS, AND HYPOSEGMENTED LUNGS |
| 601420 | MICROCEPHALY, CORPUS CALLOSUM DYSGENESIS, AND CLEFT LIP/PALATE |
| 614231 | MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME |
| 612947 | MICROCEPHALY, GROWTH RETARDATION, CATARACT, HEARING LOSS, AND UNUSUAL APPEARANCE |
| 251300 | MICROCEPHALY, HIATAL HERNIA, AND NEPHROTIC SYNDROME |
| 613668 | MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY |
| 614261 | MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME |
| 251220 | MICROCEPHALY-CARDIOMYOPATHY |
| 156620 | MICROCEPHALY-DEAFNESS SYNDROME |
| 251230 | MICROCEPHALY-MICROMELIA SYNDROME |
| 251400 | MICROCOLON |
| 156600 | MICROCORIA, CONGENITAL |
| 156700 | MICROCORNEA, GLAUCOMA, AND ABSENT FRONTAL SINUSES |
| 615458 | MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS |
| 156810 | MICROGASTRIA-LIMB REDUCTION DEFECTS ASSOCIATION |
| 605013 | MICROHYDRANENCEPHALY |
| 156830 | MICROMELIC BONE DYSPLASIA WITH CLOVERLEAF SKULL |
| 607597 | MICROPHTHALMIA WITH CYST, BILATERAL FACIAL CLEFTS, AND LIMB ANOMALIES |
| 251700 | MICROPHTHALMIA WITH HYPEROPIA, RETINAL DEGENERATION, MACROPHAKIA, AND DENTAL ANOMALIES |
| 206920 | MICROPHTHALMIA WITH LIMB ANOMALIES |
| 251600 | MICROPHTHALMIA, ISOLATED 1 |
| 610093 | MICROPHTHALMIA, ISOLATED 2 |
| 611038 | MICROPHTHALMIA, ISOLATED 3 |
| 613094 | MICROPHTHALMIA, ISOLATED 4 |
| 611040 | MICROPHTHALMIA, ISOLATED 5 |
| 613517 | MICROPHTHALMIA, ISOLATED 6 |
| 613704 | MICROPHTHALMIA, ISOLATED 7 |
| 615113 | MICROPHTHALMIA, ISOLATED 8 |
| 156850 | MICROPHTHALMIA, ISOLATED, WITH CATARACT 1 |
| 212550 | MICROPHTHALMIA, ISOLATED, WITH CATARACT 2 |
| 302300 | MICROPHTHALMIA, ISOLATED, WITH CATARACT 3 |
| 610092 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3 |
| 251505 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 4 |
| 611638 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 |
| 613703 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 |
| 614497 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 |
| 615145 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 |
| 156900 | MICROPHTHALMIA, ISOLATED, WITH CORECTOPIA |
| 309800 | MICROPHTHALMIA, SYNDROMIC 1 |
| 611222 | MICROPHTHALMIA, SYNDROMIC 10 |
| 614402 | MICROPHTHALMIA, SYNDROMIC 11 |
| 615524 | MICROPHTHALMIA, SYNDROMIC 12 |
| 300915 | MICROPHTHALMIA, SYNDROMIC 13 |
| 300166 | MICROPHTHALMIA, SYNDROMIC 2 |
| 206900 | MICROPHTHALMIA, SYNDROMIC 3 |
| 301590 | MICROPHTHALMIA, SYNDROMIC 4 |
| 610125 | MICROPHTHALMIA, SYNDROMIC 5 |
| 607932 | MICROPHTHALMIA, SYNDROMIC 6 |
| 309801 | MICROPHTHALMIA, SYNDROMIC 7 |
| 601349 | MICROPHTHALMIA, SYNDROMIC 8 |
| 601186 | MICROPHTHALMIA, SYNDROMIC 9 |
| 251750 | MICROSPHEROPHAKIA |
| 157150 | MICROSPHEROPHAKIA WITH HERNIA |
| 157151 | MICROSPHEROPHAKIA-METAPHYSEAL DYSPLASIA |
| 251800 | MICROTIA WITH MEATAL ATRESIA AND CONDUCTIVE DEAFNESS |
| 611863 | MICROTIA WITH NASOLACRIMAL DUCT IMPERFORATION AND EYE COLOBOMA |
| 612290 | MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE |
| 600674 | MICROTIA-ANOTIA |
| 157140 | MICROTUBULE-ASSOCIATED PROTEIN TAU |
| 608624 | MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA |
| 601016 | MIDLINE MALFORMATIONS, MULTIPLE, WITH LIMB ABNORMALITIES AND HYPOPITUITARISM |
| 157200 | MIDPHALANGEAL HAIR |
| 157300 | MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 |
| 610208 | MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 10 |
| 610209 | MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 11 |
| 607498 | MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 3 |
| 607508 | MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 5 |
| 607516 | MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 6 |
| 607501 | MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO, 4 |
| 141500 | MIGRAINE, FAMILIAL HEMIPLEGIC, 1 |
| 602481 | MIGRAINE, FAMILIAL HEMIPLEGIC, 2 |
| 609634 | MIGRAINE, FAMILIAL HEMIPLEGIC, 3 |
| 300125 | MIGRAINE, FAMILIAL TYPICAL, SUSCEPTIBILITY TO, 2 |
| 309605 | MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME |
| 157400 | MILIA, MULTIPLE ERUPTIVE |
| 247200 | MILLER-DIEKER LISSENCEPHALY SYNDROME |
| 600592 | MINICHROMOSOME MAINTENANCE, S. CEREVISIAE, HOMOLOG OF, 7 |
| 255320 | MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA |
| 607552 | MINICORE MYOPATHY, ANTENATAL ONSET, WITH ARTHROGRYPOSIS |
| 157600 | MIRROR MOVEMENTS 1 |
| 614508 | MIRROR MOVEMENTS 2 |
| 276300 | MISMATCH REPAIR CANCER SYNDROME |
| 615710 | MITCHELL-RILEY SYNDROME |
| 252010 | MITOCHONDRIAL COMPLEX I DEFICIENCY |
| 252011 | MITOCHONDRIAL COMPLEX II DEFICIENCY |
| 124000 | MITOCHONDRIAL COMPLEX III DEFICIENCY |
| 615157 | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 |
| 615158 | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3 |
| 615159 | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 |
| 615160 | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 |
| 615453 | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 |
| 220110 | MITOCHONDRIAL COMPLEX IV DEFICIENCY |
| 614052 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 |
| 614053 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 |
| 615228 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 |
| 603041 | MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) |
| 615084 | MITOCHONDRIAL DNA DEPLETION SYNDROME 11 |
| 615418 | MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE) |
| 615471 | MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) |
| 609560 | MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) |
| 251880 | MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) |
| 613662 | MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) |
| 612073 | MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH METHYLMALONIC ACIDURIA) |
| 256810 | MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) |
| 271245 | MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) |
| 612075 | MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) |
| 245400 | MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) |
| 251900 | MITOCHONDRIAL MYOPATHY |
| 251945 | MITOCHONDRIAL MYOPATHY WITH A DEFECT IN MITOCHONDRIAL-PROTEIN TRANSPORT |
| 500002 | MITOCHONDRIAL MYOPATHY WITH DIABETES |
| 251950 | MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS |
| 540000 | MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES |
| 500009 | MITOCHONDRIAL MYOPATHY, INFANTILE, DUE TO REVERSIBLE CYTOCHROME C OXIDASE DEFICIENCY |
| 551000 | MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE |
| 610773 | MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY |
| 614741 | MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY |
| 605431 | MITOGEN-ACTIVATED PROTEIN KINASE 8-INTERACTING PROTEIN 3 |
| 157800 | MITRAL REGURGITATION, CONDUCTIVE DEAFNESS, AND FUSION OF CERVICAL VERTEBRAE AND OF CARPAL AND TARSAL BONES |
| 157700 | MITRAL VALVE PROLAPSE, FAMILIAL |
| 607829 | MITRAL VALVE PROLAPSE, MYXOMATOUS 2 |
| 610840 | MITRAL VALVE PROLAPSE, MYXOMATOUS 3 |
| 254130 | MIYOSHI MUSCULAR DYSTROPHY 1 |
| 613319 | MIYOSHI MUSCULAR DYSTROPHY 3 |
| 309840 | MODIFIER, X-LINKED, FOR NEUROFUNCTIONAL DEFECTS |
| 157900 | MOEBIUS SYNDROME |
| 252100 | MOHR SYNDROME |
| 304700 | MOHR-TRANEBJAERG SYNDROME |
| 252150 | MOLYBDENUM COFACTOR DEFICIENCY |
| 252160 | MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B |
| 157980 | MOMO SYNDROME |
| 158000 | MONILETHRIX |
| 252200 | MONILETHRIX |
| 309850 | MONOAMINE OXIDASE A |
| 309860 | MONOAMINE OXIDASE B |
| 614894 | MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE |
| 252250 | MONOCYTE CHEMOTACTIC DISORDER |
| 613353 | MONONEUROPATHY OF THE MEDIAN NERVE, MILD |
| 158100 | MONOPHALANGY OF GREAT TOE |
| 252270 | MONOSOMY 7 OF BONE MARROW |
| 615703 | MORBID OBESITY AND SPERMATOGENIC FAILURE |
| 252300 | MORQUIO SYNDROME C |
| 257300 | MOSAIC VARIEGATED ANEUPLOIDY SYNDROME |
| 614114 | MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 |
| 158280 | MOTION SICKNESS |
| 600333 | MOTOR NEURON DISEASE WITH DEMENTIA AND OPHTHALMOPLEGIA |
| 252320 | MOTOR NEUROPATHY, PERIPHERAL, WITH DYSAUTONOMIA |
| 235730 | MOWAT-WILSON SYNDROME |
| 252350 | MOYAMOYA DISEASE 1 |
| 300845 | MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM |
| 614042 | MOYAMOYA DISEASE 5 |
| 615750 | MOYAMOYA DISEASE 6 WITH ACHALASIA |
| 613342 | MSELENI JOINT DISEASE |
| 191900 | MUCKLE-WELLS SYNDROME |
| 158310 | MUCOEPITHELIAL DYSPLASIA, HEREDITARY |
| 252500 | MUCOLIPIDOSIS II ALPHA/BETA |
| 252600 | MUCOLIPIDOSIS III ALPHA/BETA |
| 252605 | MUCOLIPIDOSIS III GAMMA |
| 252650 | MUCOLIPIDOSIS IV |
| 252700 | MUCOPOLYSACCHARIDOSES, UNCLASSIFIED TYPES |
| 309900 | MUCOPOLYSACCHARIDOSIS TYPE II |
| 252900 | MUCOPOLYSACCHARIDOSIS TYPE IIIA |
| 252920 | MUCOPOLYSACCHARIDOSIS TYPE IIIB |
| 252930 | MUCOPOLYSACCHARIDOSIS TYPE IIIC |
| 252940 | MUCOPOLYSACCHARIDOSIS TYPE IIID |
| 253000 | MUCOPOLYSACCHARIDOSIS TYPE IVA |
| 253010 | MUCOPOLYSACCHARIDOSIS TYPE IVB |
| 253200 | MUCOPOLYSACCHARIDOSIS TYPE VI |
| 253220 | MUCOPOLYSACCHARIDOSIS TYPE VII |
| 253240 | MUCUS INSPISSATION OF RESPIRATORY TRACT |
| 602849 | MUENKE SYNDROME |
| 158320 | MUIR-TORRE SYNDROME |
| 253250 | MULIBREY NANISM |
| 158330 | MULLERIAN APLASIA AND HYPERANDROGENISM |
| 235255 | MULLERIAN DERIVATIVES, PERSISTENCE OF, WITH LYMPHANGIECTASIA AND POSTAXIAL POLYDACTYLY |
| 601076 | MULLERIAN DUCT APLASIA, UNILATERAL RENAL AGENESIS, AND CERVICOTHORACIC SOMITE ANOMALIES |
| 166300 | MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME |
| 259600 | MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY |
| 253320 | MULTICORE MYOPATHY WITH MENTAL RETARDATION, SHORT STATURE, AND HYPOGONADOTROPIC HYPOGONADISM |
| 143400 | MULTICYSTIC RENAL DYSPLASIA, BILATERAL |
| 231680 | MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY |
| 607161 | MULTIPLE CONGENITAL ANOMALIES SYNDROME WITH CLOVERLEAF SKULL |
| 614080 | MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 |
| 300868 | MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 |
| 615398 | MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 |
| 131100 | MULTIPLE ENDOCRINE NEOPLASIA, TYPE I |
| 171400 | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA |
| 162300 | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB |
| 610755 | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV |
| 601560 | MULTIPLE EPIPHYSEAL DYSPLASIA WITH ROBIN PHENOTYPE |
| 158345 | MULTIPLE EXOSTOSES WITH SPASTIC TETRAPARESIS |
| 615554 | MULTIPLE FIBROADENOMAS OF THE BREAST |
| 605711 | MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME |
| 614299 | MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 |
| 615330 | MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 |
| 265000 | MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT |
| 253290 | MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE |
| 312150 | MULTIPLE PTERYGIUM SYNDROME, X-LINKED |
| 126200 | MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO |
| 132800 | MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO |
| 272200 | MULTIPLE SULFATASE DEFICIENCY |
| 186500 | MULTIPLE SYNOSTOSES SYNDROME 1 |
| 610017 | MULTIPLE SYNOSTOSES SYNDROME 2 |
| 612961 | MULTIPLE SYNOSTOSES SYNDROME 3 |
| 613834 | MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME |
| 611376 | MUNGAN SYNDROME |
| 158400 | MUSCLE CRAMPS, FAMILIAL |
| 614160 | MUSCLE HYPERTROPHY |
| 253280 | MUSCLE-EYE-BRAIN DISEASE |
| 158500 | MUSCULAR ATROPHY, ATAXIA, RETINITIS PIGMENTOSA, AND DIABETES MELLITUS |
| 158650 | MUSCULAR ATROPHY, MALIGNANT NEUROGENIC |
| 253590 | MUSCULAR DYSTROPHY, ADULT-ONSET, WITH LEUKOENCEPHALOPATHY |
| 158800 | MUSCULAR DYSTROPHY, BARNES TYPE |
| 300376 | MUSCULAR DYSTROPHY, BECKER TYPE |
| 309930 | MUSCULAR DYSTROPHY, CARDIAC TYPE |
| 607855 | MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A |
| 604801 | MUSCULAR DYSTROPHY, CONGENITAL, 1B |
| 613204 | MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY |
| 613205 | MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED |
| 602541 | MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE |
| 609456 | MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE |
| 253900 | MUSCULAR DYSTROPHY, CONGENITAL, PRODUCING ARTHROGRYPOSIS |
| 254000 | MUSCULAR DYSTROPHY, CONGENITAL, WITH INFANTILE CATARACT AND HYPOGONADISM |
| 254100 | MUSCULAR DYSTROPHY, CONGENITAL, WITH RAPID PROGRESSION |
| 601170 | MUSCULAR DYSTROPHY, CONGENITAL, WITH SEVERE CENTRAL NERVOUS SYSTEM ATROPHY AND ABSENCE OF LARGE MYELINATED FIBERS |
| 310200 | MUSCULAR DYSTROPHY, DUCHENNE TYPE |
| 309950 | MUSCULAR DYSTROPHY, HEMIZYGOUS LETHAL TYPE |
| 159000 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A |
| 159001 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B |
| 607801 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C |
| 603511 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E |
| 608423 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F |
| 613530 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1H |
| 253600 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A |
| 253601 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B |
| 253700 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C |
| 608099 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D |
| 604286 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E |
| 601287 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F |
| 601954 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G |
| 254110 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H |
| 608807 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J |
| 611307 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L |
| 613723 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q |
| 615325 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R |
| 615356 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S |
| 310000 | MUSCULAR DYSTROPHY, MABRY TYPE |
| 310095 | MUSCULAR DYSTROPHY, PROGRESSIVE PECTORODORSAL |
| 159050 | MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC, WITH INTERNALIZED CAPILLARIES |
| 600416 | MUSCULAR DYSTROPHY, SCAPULOHUMERAL |
| 236670 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 |
| 615041 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 |
| 615181 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 |
| 615249 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 |
| 615287 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 |
| 615350 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 |
| 613150 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 |
| 253800 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 |
| 613153 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 |
| 613154 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 |
| 614643 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 |
| 614830 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 |
| 613155 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 |
| 615351 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 |
| 613156 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 |
| 613151 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 |
| 608840 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 |
| 606612 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 |
| 613152 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 |
| 609308 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 |
| 615352 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 |
| 613158 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 |
| 613157 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 |
| 611588 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 |
| 607155 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 |
| 613818 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 |
| 254120 | MUSCULAR HYPERTONIA, LETHAL |
| 159100 | MUSCULAR HYPOPLASIA, CONGENITAL UNIVERSAL, OF KRABBE |
| 159300 | MUSICAL PERFECT PITCH |
| 254150 | MUSK, INABILITY TO SMELL |
| 159350 | MUTATED IN COLORECTAL CANCERS |
| 604933 | MutY, E. COLI, HOMOLOG OF |
| 254200 | MYASTHENIA GRAVIS |
| 254190 | MYASTHENIA, CONGENITAL, REFRACTORY TO ACETYLCHOLINESTERASE INHIBITORS |
| 605809 | MYASTHENIA, FAMILIAL INFANTILE, 1 |
| 159400 | MYASTHENIA, LIMB-GIRDLE, AUTOIMMUNE |
| 254300 | MYASTHENIA, LIMB-GIRDLE, FAMILIAL |
| 610542 | MYASTHENIA, LIMB-GIRDLE, WITH TUBULAR AGGREGATES |
| 608931 | MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY |
| 254210 | MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA |
| 608930 | MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL |
| 601462 | MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL |
| 615120 | MYASTHENIC SYNDROME, CONGENITAL, WITH PRE- AND POSTSYNAPTIC DEFECTS |
| 614750 | MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2 |
| 613796 | MYCOBACTERIAL AND VIRAL INFECTIONS, SUSCEPTIBILITY TO, AUTOSOMAL RECESSIVE |
| 254400 | MYCOSIS FUNGOIDES |
| 612260 | MYD88 DEFICIENCY |
| 159420 | MYDRIASIS, CONGENITAL |
| 159410 | MYDRIATIC RESPONSE TO PHARMACOLOGIC AGENTS |
| 159500 | MYELINATED OPTIC NERVE FIBERS |
| 159550 | MYELOCEREBELLAR DISORDER |
| 600080 | MYELOCYTIC LEUKEMIA-LIKE SYNDROME, FAMILIAL, CHRONIC |
| 601347 | MYELODYSPLASIA, IMMUNODEFICIENCY, FACIAL DYSMORPHISM, SHORT STATURE, AND PSYCHOMOTOR DELAY |
| 254450 | MYELOFIBROSIS |
| 310350 | MYELOLYMPHATIC INSUFFICIENCY |
| 254500 | MYELOMA, MULTIPLE |
| 159580 | MYELOPATHY, HTLV-1-ASSOCIATED |
| 254600 | MYELOPEROXIDASE DEFICIENCY |
| 254700 | MYELOPROLIFERATIVE DISEASE, AUTOSOMAL RECESSIVE |
| 131440 | MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA |
| 159595 | MYELOPROLIFERATIVE SYNDROME, TRANSIENT |
| 608446 | MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO |
| 159900 | MYOCLONIC DYSTONIA |
| 545000 | MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS |
| 254780 | MYOCLONIC EPILEPSY OF LAFORA |
| 254800 | MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG |
| 605021 | MYOCLONIC EPILEPSY, FAMILIAL INFANTILE |
| 159600 | MYOCLONIC EPILEPSY, HARTUNG TYPE |
| 611364 | MYOCLONIC EPILEPSY, JUVENILE, 4 |
| 310370 | MYOCLONIC EPILEPSY, PROGRESSIVE |
| 159700 | MYOCLONUS AND ATAXIA |
| 159800 | MYOCLONUS, CEREBELLAR ATAXIA, AND DEAFNESS |
| 614937 | MYOCLONUS, FAMILIAL CORTICAL |
| 159950 | MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY |
| 615293 | MYOFIBROMATOSIS, INFANTILE, 2 |
| 268200 | MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE |
| 160010 | MYOGLOBINURIA, AUTOSOMAL DOMINANT |
| 550500 | MYOGLOBINURIA, RECURRENT |
| 254960 | MYOPATHY DUE TO MALATE-ASPARTATE SHUTTLE DEFECT |
| 255100 | MYOPATHY WITH ABNORMAL LIPID METABOLISM |
| 255125 | MYOPATHY WITH EXERCISE INTOLERANCE, SWEDISH TYPE |
| 615673 | MYOPATHY WITH EXTRAPYRAMIDAL SIGNS |
| 255140 | MYOPATHY WITH GIANT ABNORMAL MITOCHONDRIA |
| 160570 | MYOPATHY WITH STORAGE OF GLYCOPROTEINS AND GLYCOSAMINOGLYCANS |
| 614399 | MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET |
| 609500 | MYOPATHY, AUTOPHAGIC VACUOLAR, INFANTILE-ONSET |
| 160150 | MYOPATHY, CENTRONUCLEAR, 1 |
| 255200 | MYOPATHY, CENTRONUCLEAR, 2 |
| 614408 | MYOPATHY, CENTRONUCLEAR, 3 |
| 614807 | MYOPATHY, CENTRONUCLEAR, 4 |
| 310400 | MYOPATHY, CENTRONUCLEAR, X-LINKED |
| 255300 | MYOPATHY, CONGENITAL |
| 254940 | MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE |
| 612540 | MYOPATHY, CONGENITAL, COMPTON-NORTH |
| 255310 | MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION |
| 300580 | MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION, X-LINKED |
| 160500 | MYOPATHY, DISTAL 1 |
| 610099 | MYOPATHY, DISTAL 3 |
| 614065 | MYOPATHY, DISTAL, 4 |
| 614321 | MYOPATHY, DISTAL, TATEYAMA TYPE |
| 606768 | MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET |
| 607569 | MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT |
| 160300 | MYOPATHY, DISTAL, WITH ONSET IN INFANCY |
| 611705 | MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY |
| 254950 | MYOPATHY, GRANULOVACUOLAR LOBULAR, WITH ELECTRICAL MYOTONIA |
| 255160 | MYOPATHY, HYALINE BODY, AUTOSOMAL RECESSIVE |
| 600462 | MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 |
| 613561 | MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 |
| 609940 | MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY |
| 613076 | MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT, HEARING LOSS, AND DEVELOPMENTAL DELAY |
| 612954 | MYOPATHY, MYOFIBRILLAR 6, MFM6 |
| 601419 | MYOPATHY, MYOFIBRILLAR, 1 |
| 608810 | MYOPATHY, MYOFIBRILLAR, 2 |
| 609200 | MYOPATHY, MYOFIBRILLAR, 3 |
| 609452 | MYOPATHY, MYOFIBRILLAR, 4 |
| 609524 | MYOPATHY, MYOFIBRILLAR, 5 |
| 613869 | MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED |
| 608358 | MYOPATHY, MYOSIN STORAGE |
| 300718 | MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET |
| 300717 | MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE |
| 182920 | MYOPATHY, SPHEROID BODY |
| 160565 | MYOPATHY, TUBULAR AGGREGATE |
| 310440 | MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY |
| 300696 | MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY |
| 310460 | MYOPIA 1 |
| 609259 | MYOPIA 10 |
| 612717 | MYOPIA 15, AUTOSOMAL DOMINANT |
| 608367 | MYOPIA 17, AUTOSOMAL DOMINANT |
| 255500 | MYOPIA 18, AUTOSOMAL RECESSIVE |
| 613969 | MYOPIA 19, AUTOSOMAL DOMINANT |
| 160700 | MYOPIA 2 |
| 614167 | MYOPIA 21, AUTOSOMAL DOMINANT |
| 615420 | MYOPIA 22, AUTOSOMAL DOMINANT |
| 615431 | MYOPIA 23, AUTOSOMAL RECESSIVE |
| 603221 | MYOPIA 3, AUTOSOMAL DOMINANT |
| 608474 | MYOPIA 5, AUTOSOMAL DOMINANT |
| 608908 | MYOPIA 6 |
| 609256 | MYOPIA 7 |
| 609257 | MYOPIA 8 |
| 609258 | MYOPIA 9 |
| 614292 | MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION |
| 255600 | MYOSCLEROSIS, AUTOSOMAL RECESSIVE |
| 160750 | MYOSITIS |
| 160800 | MYOTONIA CONGENITA, AUTOSOMAL DOMINANT |
| 255700 | MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE |
| 255710 | MYOTONIA WITH SKELETAL ABNORMALITIES AND MENTAL RETARDATION |
| 608390 | MYOTONIA, POTASSIUM-AGGRAVATED |
| 160990 | MYOTONIC MYOPATHY WITH CYLINDRICAL SPIRALS |
| 255900 | MYXEDEMA |
| 613488 | MYXOID LIPOSARCOMA |
| 255960 | MYXOMA, INTRACARDIAC |
| 614063 | N-ACETYLASPARTATE DEFICIENCY |
| 237310 | N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY |
| 613468 | N-ACYLSPHINGOSINE AMIDOHYDROLASE 1 |
| 605270 | N-SULFOGLUCOSAMINE SULFOHYDROLASE |
| 608156 | NABLUS MASK-LIKE FACIAL SYNDROME |
| 161000 | NAEGELI SYNDROME |
| 161050 | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 1 |
| 614157 | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10 |
| 164800 | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 5 |
| 605779 | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 7 |
| 607523 | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8 |
| 614149 | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 |
| 161070 | NAIL HIGH-SULFUR PROTEIN |
| 161080 | NAIL LOW-SULFUR PROTEIN |
| 161200 | NAIL-PATELLA SYNDROME |
| 256020 | NAIL-PATELLA-LIKE RENAL DISEASE |
| 161100 | NAILBEDS, PIGMENTATION OF |
| 302350 | NANCE-HORAN SYNDROME |
| 600165 | NANOPHTHALMOS 1 |
| 609549 | NANOPHTHALMOS 2 |
| 161400 | NARCOLEPSY 1 |
| 609039 | NARCOLEPSY 3 |
| 614250 | NARCOLEPSY 7 |
| 161470 | NASAL ALAR COLLAPSE, BILATERAL |
| 161480 | NASAL BONES, ABSENCE OF |
| 161500 | NASAL GROOVE, FAMILIAL TRANSVERSE |
| 161530 | NASAL HYPERPIGMENTATION, FAMILIAL TRANSVERSE |
| 255980 | NASODIGITOACOUSTIC SYNDROME |
| 161550 | NASOPHARYNGEAL CARCINOMA |
| 607107 | NASOPHARYNGEAL CARCINOMA |
| 255990 | NATHALIE SYNDROME |
| 255995 | NATIVE AMERICAN MYOPATHY |
| 609981 | NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT |
| 161600 | NAVICULAR BONE, ACCESSORY |
| 601214 | NAXOS DISEASE |
| 161700 | NECROTIZING ENCEPHALOMYELOPATHY, SUBACUTE, OF LEIGH, ADULT |
| 609284 | NEMALINE MYOPATHY 1 |
| 256030 | NEMALINE MYOPATHY 2 |
| 161800 | NEMALINE MYOPATHY 3 |
| 609285 | NEMALINE MYOPATHY 4 |
| 605355 | NEMALINE MYOPATHY 5 |
| 609273 | NEMALINE MYOPATHY 6 |
| 610687 | NEMALINE MYOPATHY 7 |
| 615731 | NEMALINE MYOPATHY 9 |
| 300539 | NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS |
| 167030 | NEPHROLITHIASIS, CALCIUM OXALATE |
| 310468 | NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE |
| 612286 | NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1 |
| 612287 | NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2 |
| 256100 | NEPHRONOPHTHISIS 1 |
| 613550 | NEPHRONOPHTHISIS 11 |
| 613820 | NEPHRONOPHTHISIS 12 |
| 614377 | NEPHRONOPHTHISIS 13 |
| 614844 | NEPHRONOPHTHISIS 14 |
| 614845 | NEPHRONOPHTHISIS 15 |
| 615382 | NEPHRONOPHTHISIS 16 |
| 602088 | NEPHRONOPHTHISIS 2 |
| 604387 | NEPHRONOPHTHISIS 3 |
| 606966 | NEPHRONOPHTHISIS 4 |
| 611498 | NEPHRONOPHTHISIS 7 |
| 613824 | NEPHRONOPHTHISIS 9 |
| 613159 | NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 |
| 609057 | NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS |
| 256120 | NEPHROPATHY, DEAFNESS, AND HYPERPARATHYROIDISM |
| 602114 | NEPHROPATHY, PROGRESSIVE TUBULOINTERSTITIAL, WITH CHOLESTATIC LIVER DISEASE |
| 256150 | NEPHROSIALIDOSIS |
| 256300 | NEPHROSIS 1, CONGENITAL, FINNISH TYPE |
| 256200 | NEPHROSIS WITH DEAFNESS AND URINARY TRACT AND DIGITAL MALFORMATIONS |
| 256370 | NEPHROTIC SYNDROME, EARLY-ONSET, WITH DIFFUSE MESANGIAL SCLEROSIS |
| 600995 | NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE |
| 610725 | NEPHROTIC SYNDROME, TYPE 3 |
| 614199 | NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES |
| 614196 | NEPHROTIC SYNDROME, TYPE 6 |
| 615008 | NEPHROTIC SYNDROME, TYPE 7 |
| 615244 | NEPHROTIC SYNDROME, TYPE 8 |
| 615573 | NEPHROTIC SYNDROME, TYPE 9 |
| 614008 | NESTOR-GUILLERMO PROGERIA SYNDROME |
| 256500 | NETHERTON SYNDROME |
| 256520 | NEU-LAXOVA SYNDROME |
| 182940 | NEURAL TUBE DEFECTS |
| 601634 | NEURAL TUBE DEFECTS, FOLATE-SENSITIVE |
| 301410 | NEURAL TUBE DEFECTS, X-LINKED |
| 256550 | NEURAMINIDASE DEFICIENCY |
| 256700 | NEUROBLASTOMA |
| 164790 | NEUROBLASTOMA RAS VIRAL ONCOGENE HOMOLOG |
| 613013 | NEUROBLASTOMA, SUSCEPTIBILITY TO, 2 |
| 613068 | NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY |
| 234200 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 |
| 610217 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 |
| 256600 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A |
| 606159 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 |
| 614298 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 |
| 300894 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 |
| 615643 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 |
| 615491 | NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD-ONSET |
| 603641 | NEUROENDOCRINE CARCINOMA OF SALIVARY GLANDS, SENSORINEURAL HEARING LOSS, AND ENAMEL HYPOPLASIA |
| 256690 | NEUROFACIODIGITORENAL SYNDROME |
| 162210 | NEUROFIBROMATOSIS, FAMILIAL SPINAL |
| 162200 | NEUROFIBROMATOSIS, TYPE I |
| 101000 | NEUROFIBROMATOSIS, TYPE II |
| 162260 | NEUROFIBROMATOSIS, TYPE III, MIXED CENTRAL AND PERIPHERAL |
| 162270 | NEUROFIBROMATOSIS, TYPE IV, OF RICCARDI |
| 601321 | NEUROFIBROMATOSIS-NOONAN SYNDROME |
| 162240 | NEUROFIBROMATOSIS-PHEOCHROMOCYTOMA-DUODENAL CARCINOID SYNDROME |
| 256720 | NEUROLOGIC DISEASE, INFANTILE MULTISYSTEM, WITH OSSEOUS FRAGILITY |
| 601223 | NEURONAL INTESTINAL DYSPLASIA, TYPE B |
| 603472 | NEURONAL INTRANUCLEAR INCLUSION DISEASE |
| 182960 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I |
| 158590 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA |
| 608634 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB |
| 613376 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC |
| 615575 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID |
| 600794 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V |
| 614751 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB |
| 158580 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA |
| 607641 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB |
| 602157 | NEUROONCOLOGIC VENTRAL ANTIGEN 1 |
| 551500 | NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA |
| 605253 | NEUROPATHY, CONGENITAL HYPOMYELINATING |
| 162370 | NEUROPATHY, CONGENITAL, WITH ARTHROGRYPOSIS MULTIPLEX |
| 605285 | NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE |
| 214370 | NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, MENTAL RETARDATION, AND ABSENT SENSORY LARGE MYELINATED FIBERS |
| 162380 | NEUROPATHY, HEREDITARY SENSORIMOTOR, WITH UPPER MOTOR NEURON, VISUAL PATHWAY AND AUTONOMIC DISTURBANCE |
| 608720 | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, ADULT-ONSET, WITH ANOSMIA |
| 162400 | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I |
| 608088 | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, WITH COUGH AND GASTROESOPHAGEAL REFLUX |
| 613640 | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC |
| 201300 | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II |
| 613115 | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB |
| 223900 | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III |
| 608654 | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V |
| 614653 | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI |
| 615548 | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII |
| 256860 | NEUROPATHY, HEREDITARY SENSORY, ATYPICAL |
| 613708 | NEUROPATHY, HEREDITARY SENSORY, TYPE ID |
| 614116 | NEUROPATHY, HEREDITARY SENSORY, TYPE IE |
| 615632 | NEUROPATHY, HEREDITARY SENSORY, TYPE IF |
| 614213 | NEUROPATHY, HEREDITARY SENSORY, TYPE IIC |
| 256840 | NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE |
| 310470 | NEUROPATHY, HEREDITARY SENSORY, X-LINKED |
| 602107 | NEUROPATHY, HEREDITARY THERMOSENSITIVE |
| 162500 | NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES |
| 256870 | NEUROPATHY, PAINFUL |
| 162600 | NEUROPATHY, WITH PARAPROTEIN IN SERUM, CEREBROSPINAL FLUID AND URINE |
| 257000 | NEUROVISCERAL STORAGE DISEASE WITH CURVILINEAR BODIES |
| 610717 | NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY |
| 162700 | NEUTROPENIA, CHRONIC FAMILIAL |
| 257100 | NEUTROPENIA, LETHAL CONGENITAL, WITH EOSINOPHILIA |
| 607847 | NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS |
| 202700 | NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT |
| 613107 | NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT |
| 610738 | NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE |
| 612541 | NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE |
| 615285 | NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE |
| 300299 | NEUTROPENIA, SEVERE CONGENITAL, X-LINKED |
| 257150 | NEUTROPHIL ACTIN DYSFUNCTION |
| 162820 | NEUTROPHIL CHEMOTACTIC RESPONSE |
| 608203 | NEUTROPHIL IMMUNODEFICIENCY SYNDROME |
| 162830 | NEUTROPHILIA, HEREDITARY |
| 608068 | NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE |
| 601451 | NEVO SYNDROME |
| 614323 | NEVOID HYPERMELANOSIS, LINEAR AND WHORLED |
| 163050 | NEVUS ANEMICUS |
| 163100 | NEVUS FLAMMEUS OF NAPE OF NECK |
| 162900 | NEVUS, EPIDERMAL |
| 607476 | NEWFOUNDLAND ROD-CONE DYSTROPHY |
| 601358 | NICOLAIDES-BARAITSER SYNDROME |
| 257200 | NIEMANN-PICK DISEASE, TYPE A |
| 607616 | NIEMANN-PICK DISEASE, TYPE B |
| 257220 | NIEMANN-PICK DISEASE, TYPE C1 |
| 607625 | NIEMANN-PICK DISEASE, TYPE C2 |
| 163400 | NIEVERGELT SYNDROME |
| 610445 | NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1 |
| 163500 | NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2 |
| 610444 | NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3 |
| 310500 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A |
| 257270 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B |
| 613216 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C |
| 613830 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D |
| 614565 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E |
| 615058 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F |
| 300071 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A |
| 610427 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B |
| 251260 | NIJMEGEN BREAKAGE SYNDROME |
| 613078 | NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER |
| 163600 | NIPPLES INVERTED |
| 163700 | NIPPLES, SUPERNUMERARY |
| 163731 | NITRIC OXIDE SYNTHASE 1 |
| 600635 | NK2 HOMEOBOX 1 |
| 163850 | NODULI CUTANEI, MULTIPLE, WITH URINARY TRACT ABNORMALITIES |
| 602991 | NOGGIN, MOUSE, HOMOLOG OF |
| 605820 | NONAKA MYOPATHY |
| 258660 | NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO |
| 158250 | NONDISJUNCTION |
| 163950 | NOONAN SYNDROME 1 |
| 609942 | NOONAN SYNDROME 3 |
| 610733 | NOONAN SYNDROME 4 |
| 611553 | NOONAN SYNDROME 5 |
| 613224 | NOONAN SYNDROME 6 |
| 613706 | NOONAN SYNDROME 7 |
| 615355 | NOONAN SYNDROME 8 |
| 607721 | NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR |
| 613563 | NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA |
| 163955 | NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME |
| 170600 | NORMOKALEMIC PERIODIC PARALYSIS |
| 310600 | NORRIE DISEASE |
| 604901 | NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS |
| 164000 | NOSE, ANOMALOUS SHAPE OF |
| 601696 | NOVELTY SEEKING PERSONALITY TRAIT |
| 257350 | NUCHAL BLEB, FAMILIAL |
| 164050 | NUCLEOSIDE PHOSPHORYLASE |
| 310700 | NYSTAGMUS 1, CONGENITAL, X-LINKED |
| 164100 | NYSTAGMUS 2, CONGENITAL, AUTOSOMAL DOMINANT |
| 608345 | NYSTAGMUS 3, CONGENITAL, AUTOSOMAL DOMINANT |
| 193003 | NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT |
| 300589 | NYSTAGMUS 5, CONGENITAL, X-LINKED |
| 300814 | NYSTAGMUS 6, CONGENITAL, X-LINKED |
| 614826 | NYSTAGMUS 7, CONGENITAL, AUTOSOMAL DOMINANT |
| 257400 | NYSTAGMUS, CONGENITAL, AUTOSOMAL RECESSIVE |
| 164150 | NYSTAGMUS, HEREDITARY VERTICAL |
| 310800 | NYSTAGMUS, MYOCLONIC |
| 164170 | NYSTAGMUS, VOLUNTARY |
| 601665 | OBESITY |
| 613886 | OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY |
| 257500 | OBESITY-HYPOVENTILATION SYNDROME |
| 164230 | OBSESSIVE-COMPULSIVE DISORDER 1 |
| 310900 | OCCIPITAL HAIR, WHITE LOCK OF |
| 304150 | OCCIPITAL HORN SYNDROME |
| 613587 | OCCULT MACULAR DYSTROPHY |
| 164185 | OCULAR CICATRICIAL PEMPHIGOID |
| 164190 | OCULAR DOMINANCE |
| 257550 | OCULAR MOTOR APRAXIA |
| 257600 | OCULAR MYOPATHY WITH CURARE SENSITIVITY |
| 612109 | OCULOAURICULAR SYNDROME |
| 257790 | OCULOCEREBRAL HYPOPIGMENTATION SYNDROME OF PREUS |
| 257800 | OCULOCEREBRAL SYNDROME WITH HYPOPIGMENTATION |
| 164180 | OCULOCEREBROCUTANEOUS SYNDROME |
| 164200 | OCULODENTODIGITAL DYSPLASIA |
| 257850 | OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE |
| 610332 | OCULOOTOFACIAL DYSPLASIA |
| 257910 | OCULOPALATOCEREBRAL SYNDROME |
| 164300 | OCULOPHARYNGEAL MUSCULAR DYSTROPHY |
| 164310 | OCULOPHARYNGODISTAL MYOPATHY |
| 257970 | OCULORENOCEREBELLAR SYNDROME |
| 257960 | OCULOTRICHODYSPLASIA |
| 613628 | ODONTOID HYPOPLASIA |
| 164330 | ODONTOMA-DYSPHAGIA SYNDROME |
| 601319 | ODONTOMICRONYCHIAL DYSPLASIA |
| 257980 | ODONTOONYCHODERMAL DYSPLASIA |
| 601957 | ODONTOTRICHOUNGUAL-DIGITAL-PALMAR SYNDROME |
| 258040 | OEIS COMPLEX |
| 300855 | OGDEN SYNDROME |
| 258100 | OGUCHI DISEASE 1 |
| 613411 | OGUCHI DISEASE 2 |
| 603736 | OHDO SYNDROME, SBBYS VARIANT |
| 300895 | OHDO SYNDROME, X-LINKED |
| 608615 | OLIGODONTIA-COLORECTAL CANCER SYNDROME |
| 258150 | OLIGOSYNAPTIC INFERTILITY |
| 258200 | OLIVER SYNDROME |
| 258300 | OLIVOPONTOCEREBELLAR ATROPHY II, AUTOSOMAL RECESSIVE |
| 164700 | OLIVOPONTOCEREBELLAR ATROPHY V |
| 603554 | OMENN SYNDROME |
| 258315 | OMODYSPLASIA 1 |
| 164745 | OMODYSPLASIA 2 |
| 164750 | OMPHALOCELE |
| 310980 | OMPHALOCELE |
| 258320 | OMPHALOCELE-CLEFT PALATE SYNDROME, LETHAL |
| 553000 | ONCOCYTOMA |
| 164680 | ONYCHOGRYPOSIS, PEDAL, WITH KERATOSIS PLANTARIS AND COARSE HAIR |
| 258360 | ONYCHOTRICHODYSPLASIA AND NEUTROPENIA |
| 164900 | OPHTHALMOMANDIBULOMELIC DYSPLASIA |
| 258400 | OPHTHALMOPLEGIA TOTALIS WITH PTOSIS AND MIOSIS |
| 311000 | OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA |
| 165000 | OPHTHALMOPLEGIA, FAMILIAL STATIC |
| 165098 | OPHTHALMOPLEGIA, FAMILIAL TOTAL, WITH IRIS TRANSILLUMINATION |
| 165150 | OPHTHALMOPLEGIA, PROGRESSIVE, WITH SCROTAL TONGUE AND MENTAL DEFICIENCY |
| 258470 | OPHTHALMOPLEGIC NEUROMUSCULAR DISORDER WITH ABNORMAL MITOCHONDRIA |
| 145410 | OPITZ GBBB SYNDROME, AUTOSOMAL DOMINANT |
| 300000 | OPITZ GBBB SYNDROME, X-LINKED |
| 305450 | OPITZ-KAVEGGIA SYNDROME |
| 258480 | OPSISMODYSPLASIA |
| 165500 | OPTIC ATROPHY 1 |
| 125250 | OPTIC ATROPHY 1 AND DEAFNESS |
| 311050 | OPTIC ATROPHY 2 |
| 165300 | OPTIC ATROPHY 3, AUTOSOMAL DOMINANT |
| 610708 | OPTIC ATROPHY 5 |
| 258500 | OPTIC ATROPHY 6 |
| 612989 | OPTIC ATROPHY 7 |
| 165200 | OPTIC ATROPHY WITH DEMYELINATING DISEASE OF CNS |
| 165510 | OPTIC ATROPHY WITH NEGATIVE ELECTRORETINOGRAMS |
| 165199 | OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMAL DOMINANT |
| 258650 | OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE |
| 311100 | OPTIC ATROPHY--SPASTIC PARAPLEGIA SYNDROME |
| 165550 | OPTIC NERVE HYPOPLASIA, BILATERAL |
| 311150 | OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA |
| 258700 | OPTICOCOCHLEODENTATE DEGENERATION |
| 258840 | ORAL AND DIGITAL ANOMALIES WITH ICHTHYOSIS |
| 258800 | ORAL SENSIBILITY, DISTURBANCE OF |
| 165600 | ORBITAL MARGIN, HYPOPLASIA OF |
| 613349 | ORNITHINE AMINOTRANSFERASE |
| 311250 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO |
| 119530 | OROFACIAL CLEFT 1 |
| 613705 | OROFACIAL CLEFT 10 |
| 600625 | OROFACIAL CLEFT 11 |
| 613857 | OROFACIAL CLEFT 13 |
| 600757 | OROFACIAL CLEFT 3 |
| 608874 | OROFACIAL CLEFT 5 |
| 608864 | OROFACIAL CLEFT 6, SUSCEPTIBILITY TO |
| 311200 | OROFACIODIGITAL SYNDROME I |
| 258850 | OROFACIODIGITAL SYNDROME III |
| 258860 | OROFACIODIGITAL SYNDROME IV |
| 258865 | OROFACIODIGITAL SYNDROME IX |
| 174300 | OROFACIODIGITAL SYNDROME V |
| 277170 | OROFACIODIGITAL SYNDROME VI |
| 300484 | OROFACIODIGITAL SYNDROME VIII |
| 165590 | OROFACIODIGITAL SYNDROME X |
| 612913 | OROFACIODIGITAL SYNDROME XI |
| 258900 | OROTIC ACIDURIA |
| 258920 | OROTIC ACIDURIA II |
| 143850 | ORTHOSTATIC HYPOTENSIVE DISORDER, STREETEN TYPE |
| 604715 | ORTHOSTATIC INTOLERANCE |
| 165660 | OSLAM SYNDROME |
| 166350 | OSSEOUS HETEROPLASIA, PROGRESSIVE |
| 165680 | OSSICULAR MALFORMATIONS, FAMILIAL |
| 602475 | OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE |
| 165670 | OSSIFIED EAR CARTILAGES |
| 259050 | OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND BONY CHANGES |
| 165720 | OSTEOARTHRITIS SUSCEPTIBILITY 1 |
| 140600 | OSTEOARTHRITIS SUSCEPTIBILITY 2 |
| 607850 | OSTEOARTHRITIS SUSCEPTIBILITY 3 |
| 604864 | OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA |
| 165700 | OSTEOARTHROPATHY OF FINGERS, FAMILIAL |
| 165800 | OSTEOCHONDRITIS DISSECANS |
| 166990 | OSTEOCHONDRODYSPLASIA, RHIZOMELIC, WITH CALLOSAL AGENESIS, THROMBOCYTOPENIA, HYDROCEPHALUS, AND HYPERTENSION |
| 259200 | OSTEOCHONDROSIS DEFORMANS TIBIAE, FAMILIAL INFANTILE TYPE |
| 259250 | OSTEODYSPLASIA, FAMILIAL, ANDERSON TYPE |
| 259270 | OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI |
| 259410 | OSTEOGENESIS IMPERFECTA CONGENITA, MICROCEPHALY, AND CATARACTS |
| 166240 | OSTEOGENESIS IMPERFECTA WITH OPALESCENT TEETH |
| 166230 | OSTEOGENESIS IMPERFECTA WITH OPALESCENT TEETH, BLUE SCLERAE AND WORMIAN BONES, BUT WITHOUT FRACTURES |
| 259440 | OSTEOGENESIS IMPERFECTA, SILLENCE TYPE II/III, WITHOUT ABNORMALITY OF TYPE I COLLAGEN |
| 166200 | OSTEOGENESIS IMPERFECTA, TYPE I |
| 166210 | OSTEOGENESIS IMPERFECTA, TYPE II |
| 610854 | OSTEOGENESIS IMPERFECTA, TYPE IIB |
| 259420 | OSTEOGENESIS IMPERFECTA, TYPE III |
| 166220 | OSTEOGENESIS IMPERFECTA, TYPE IV |
| 610967 | OSTEOGENESIS IMPERFECTA, TYPE V |
| 610968 | OSTEOGENESIS IMPERFECTA, TYPE VI |
| 610682 | OSTEOGENESIS IMPERFECTA, TYPE VII |
| 610915 | OSTEOGENESIS IMPERFECTA, TYPE VIII |
| 613848 | OSTEOGENESIS IMPERFECTA, TYPE X |
| 613849 | OSTEOGENESIS IMPERFECTA, TYPE XI |
| 613982 | OSTEOGENESIS IMPERFECTA, TYPE XII |
| 614856 | OSTEOGENESIS IMPERFECTA, TYPE XIII |
| 615220 | OSTEOGENESIS IMPERFECTA, TYPE XV |
| 259500 | OSTEOGENIC SARCOMA |
| 166250 | OSTEOGLOPHONIC DYSPLASIA |
| 259550 | OSTEOID OSTEOMA |
| 259610 | OSTEOLYSIS SYNDROME, RECESSIVE |
| 259650 | OSTEOMA OF MIDDLE EAR |
| 259660 | OSTEOMALACIA, SCLEROSING, WITH CEREBRAL CALCIFICATION |
| 166400 | OSTEOMAS OF MANDIBLE |
| 166450 | OSTEOMESOPYKNOSIS |
| 300373 | OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS |
| 259690 | OSTEOPENIA AND SPARSE HAIR |
| 600329 | OSTEOPETROSIS AND INFANTILE NEUROAXONAL DYSTROPHY |
| 607634 | OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 |
| 166600 | OSTEOPETROSIS, AUTOSOMAL DOMINANT 2 |
| 259700 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 |
| 259710 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 |
| 259730 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 |
| 611490 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4 |
| 259720 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 |
| 611497 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6 |
| 612301 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7 |
| 615085 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 |
| 166705 | OSTEOPOIKILOSIS AND DACRYOCYSTITIS |
| 166710 | OSTEOPOROSIS |
| 601220 | OSTEOPOROSIS AND OCULOCUTANEOUS HYPOPIGMENTATION SYNDROME |
| 259750 | OSTEOPOROSIS, JUVENILE |
| 259770 | OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME |
| 166740 | OSTEOSCLEROSIS WITH ICHTHYOSIS AND FRACTURES |
| 609993 | OSTEOSCLEROSIS WITH ICHTHYOSIS AND PREMATURE OVARIAN FAILURE |
| 615198 | OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA |
| 166760 | OTITIS MEDIA, SUSCEPTIBILITY TO |
| 166750 | OTODENTAL DYSPLASIA |
| 166780 | OTOFACIOCERVICAL SYNDROME |
| 615560 | OTOFACIOCERVICAL SYNDROME 2 |
| 601976 | OTOFACIOOSSEOUS-GONADAL SYNDROME |
| 259780 | OTOONYCHOPERONEAL SYNDROME |
| 311300 | OTOPALATODIGITAL SYNDROME, TYPE I |
| 304120 | OTOPALATODIGITAL SYNDROME, TYPE II |
| 166800 | OTOSCLEROSIS |
| 615589 | OTOSCLEROSIS 10 |
| 608244 | OTOSCLEROSIS 3 |
| 611571 | OTOSCLEROSIS 4 |
| 611572 | OTOSCLEROSIS 7 |
| 612096 | OTOSCLEROSIS 8 |
| 215150 | OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA |
| 311350 | OUABAIN RESISTANCE |
| 166900 | OVALOCYTOSIS, HEREDITARY HEMOLYTIC |
| 166910 | OVALOCYTOSIS, HEREDITARY HEMOLYTIC, WITH DEFECTIVE ERYTHROPOIESIS |
| 167000 | OVARIAN CANCER |
| 233300 | OVARIAN DYSGENESIS 1 |
| 300510 | OVARIAN DYSGENESIS 2 |
| 614324 | OVARIAN DYSGENESIS 3 |
| 166970 | OVARIAN FIBROMATA |
| 608115 | OVARIAN HYPERSTIMULATION SYNDROME |
| 185000 | OVERHYDRATED HEREDITARY STOMATOCYTOSIS |
| 260100 | PA POLYMORPHISM OF ALPHA-2-GLOBULIN |
| 600356 | PACHYDERMODACTYLY, FAMILIAL |
| 600176 | PACHYGYRIA WITH MENTAL RETARDATION AND SEIZURES |
| 610279 | PACHYGYRIA, FRONTOTEMPORAL |
| 167200 | PACHYONYCHIA CONGENITA 1 |
| 167210 | PACHYONYCHIA CONGENITA 2 |
| 260130 | PACHYONYCHIA CONGENITA, AUTOSOMAL RECESSIVE |
| 167220 | PACMAN DYSPLASIA |
| 602080 | PAGET DISEASE OF BONE |
| 167250 | PAGET DISEASE OF BONE 1 |
| 167300 | PAGET DISEASE, EXTRAMAMMARY |
| 239000 | PAGET DISEASE, JUVENILE |
| 311400 | PAINE SYNDROME |
| 167409 | PAIRED BOX GENE 2 |
| 260150 | PALANT CLEFT PALATE SYNDROME |
| 167500 | PALATOPHARYNGEAL INCOMPETENCE |
| 260200 | PALLIDAL DEGENERATION, PROGRESSIVE, WITH RETINITIS PIGMENTOSA |
| 311450 | PALLISTER W SYNDROME |
| 146510 | PALLISTER-HALL SYNDROME |
| 601803 | PALLISTER-KILLIAN SYNDROME |
| 167600 | PALMARIS LONGUS MUSCLE, ABSENCE OF |
| 167700 | PALMOMENTAL REFLEX |
| 610644 | PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL |
| 600231 | PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE |
| 144200 | PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC |
| 614594 | PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES |
| 300918 | PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES, X-LINKED |
| 615598 | PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE |
| 600962 | PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC |
| 613000 | PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL |
| 615735 | PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE |
| 167730 | PALPEBRAL COLOBOMA-LIPOMA SYNDROME |
| 604809 | PANBRONCHIOLITIS, DIFFUSE |
| 167750 | PANCREAS, ANNULAR |
| 167755 | PANCREAS, DORSAL, AGENESIS OF |
| 600001 | PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS |
| 260370 | PANCREATIC AGENESIS, CONGENITAL |
| 600089 | PANCREATIC BETA CELL AGENESIS WITH NEONATAL DIABETES MELLITUS |
| 260350 | PANCREATIC CANCER |
| 613347 | PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 |
| 260450 | PANCREATIC INSUFFICIENCY, COMBINED EXOCRINE |
| 614338 | PANCREATIC LIPASE DEFICIENCY |
| 167800 | PANCREATITIS, HEREDITARY |
| 260480 | PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX |
| 167850 | PANCYTOPENIA AND OCCLUSIVE VASCULAR DISEASE |
| 260470 | PANENCEPHALITIS, SUBACUTE SCLEROSING |
| 312000 | PANHYPOPITUITARISM, X-LINKED |
| 167870 | PANIC DISORDER 1 |
| 260500 | PAPILLOMA OF CHOROID PLEXUS |
| 167900 | PAPILLOMATOSIS, CONFLUENT AND RETICULATED |
| 167950 | PAPILLOMATOSIS, FLORID, OF NIPPLE |
| 245000 | PAPILLON-LEFEVRE SYNDROME |
| 120330 | PAPILLORENAL SYNDROME |
| 606864 | PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA |
| 168000 | PARAGANGLIOMAS 1 |
| 601650 | PARAGANGLIOMAS 2 |
| 605373 | PARAGANGLIOMAS 3 |
| 115310 | PARAGANGLIOMAS 4 |
| 614165 | PARAGANGLIOMAS 5 |
| 168100 | PARALYSIS AGITANS, JUVENILE, OF HUNT |
| 168200 | PARAMOLAR TUBERCLE OF BOLK |
| 168300 | PARAMYOTONIA CONGENITA OF VON EULENBURG |
| 260530 | PARANA HARD-SKIN SYNDROME |
| 168820 | PARAOXONASE 1 |
| 606840 | PARASOMNIA, SLEEP BRUXISM TYPE |
| 613938 | PARASOMNIA, SLEEPWALKING TYPE |
| 168400 | PARASTREMMATIC DWARFISM |
| 608266 | PARATHYROID CARCINOMA |
| 600331 | PARC SYNDROME |
| 168500 | PARIETAL FORAMINA |
| 609597 | PARIETAL FORAMINA 2 |
| 609566 | PARIETAL FORAMINA 3 |
| 168550 | PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA |
| 608355 | PARKES WEBER SYNDROME |
| 168601 | PARKINSON DISEASE 1, AUTOSOMAL DOMINANT |
| 607688 | PARKINSON DISEASE 11 |
| 610297 | PARKINSON DISEASE 13 |
| 260300 | PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET |
| 614203 | PARKINSON DISEASE 17 |
| 614251 | PARKINSON DISEASE 18 |
| 615528 | PARKINSON DISEASE 19, JUVENILE-ONSET |
| 600116 | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE |
| 615530 | PARKINSON DISEASE 20, EARLY-ONSET |
| 605543 | PARKINSON DISEASE 4, AUTOSOMAL DOMINANT |
| 605909 | PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET |
| 606324 | PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET |
| 607060 | PARKINSON DISEASE 8, AUTOSOMAL DOMINANT |
| 168600 | PARKINSON DISEASE, LATE-ONSET |
| 260540 | PARKINSON-DEMENTIA SYNDROME |
| 300911 | PARKINSONISM WITH SPASTICITY, X-LINKED |
| 311510 | PARKINSONISM, EARLY-ONSET, WITH MENTAL RETARDATION |
| 613135 | PARKINSONISM-DYSTONIA, INFANTILE |
| 600343 | PAROTID SALIVARY GLANDS, POLYCYSTIC DISEASE OF |
| 168800 | PAROTIDOMEGALY, HEREDITARY BILATERAL |
| 603588 | PAROTITIS, JUVENILE RECURRENT |
| 167400 | PAROXYSMAL EXTREME PAIN DISORDER |
| 300818 | PAROXYSMAL NOCTURNAL HEMOGLOBINURIA |
| 615399 | PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2 |
| 118800 | PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 |
| 611147 | PAROXYSMAL NONKINESIGENIC DYSKINESIA 2 |
| 168885 | PAROXYSMAL TONIC UPGAZE, BENIGN CHILDHOOD, WITH ATAXIA |
| 606177 | PARS PLANITIS |
| 309510 | PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME |
| 168830 | PASSOVOY FACTOR DEFECT |
| 601309 | PATCHED, DROSOPHILA, HOMOLOG OF, 1 |
| 168850 | PATELLA APLASIA, COXA VARA, AND TARSAL SYNOSTOSIS |
| 168860 | PATELLA APLASIA-HYPOPLASIA |
| 168900 | PATELLA, CHONDROMALACIA OF |
| 169000 | PATELLA, FAMILIAL RECURRENT DISLOCATION OF |
| 607411 | PATENT DUCTUS ARTERIOSUS |
| 604381 | PATENT DUCTUS ARTERIOSUS AND BICUSPID AORTIC VALVE WITH HAND ANOMALIES |
| 601466 | PATENT DUCTUS VENOSUS |
| 169150 | PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUM |
| 169170 | PATTERSON PSEUDOLEPRECHAUNISM SYNDROME |
| 557000 | PEARSON MARROW-PANCREAS SYNDROME |
| 169200 | PECHET FACTOR DEFICIENCY |
| 169300 | PECTUS EXCAVATUM |
| 600399 | PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, AND DYSPLASTIC NAILS |
| 270300 | PEELING SKIN SYNDROME |
| 609796 | PEELING SKIN SYNDROME, ACRAL TYPE |
| 260565 | PEHO SYNDROME |
| 169400 | PELGER-HUET ANOMALY |
| 260570 | PELGER-HUET-LIKE ANOMALY AND EPISODIC FEVER WITH ABDOMINAL PAIN |
| 312080 | PELIZAEUS-MERZBACHER DISEASE |
| 260650 | PELLAGRA-LIKE SYNDROME |
| 602484 | PELVIC HYPOPLASIA WITH LOWER-LIMB ARTHROGRYPOSIS |
| 169545 | PELVIC LIPOMATOSIS WITH CROSSED RENAL ECTOPIA |
| 176780 | PELVIC ORGAN PROLAPSE |
| 169550 | PELVIS-SHOULDER DYSPLASIA |
| 169610 | PEMPHIGUS VULGARIS, FAMILIAL |
| 274600 | PENDRED SYNDROME |
| 260800 | PENTOSURIA |
| 170100 | PEPTIDASE D |
| 613230 | PEPTIDASE D |
| 260900 | PERICARDIAL EFFUSION, CHRONIC |
| 605925 | PERICENTRIN |
| 260910 | PERIFOLLICULITIS CAPITIS ABSCEDENS ET SUFFODIENS, FAMILIAL |
| 142680 | PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT |
| 614674 | PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT |
| 170650 | PERIODONTITIS, AGGRESSIVE, 1 |
| 260950 | PERIODONTITIS, CHRONIC |
| 609021 | PERIPHERAL CONE DYSTROPHY |
| 609136 | PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE |
| 170700 | PERIPHERAL DYSOSTOSIS |
| 260970 | PERIPHERAL NEUROPATHY, ATAXIA, FOCAL NECROTIZING ENCEPHALOPATHY, AND SPONGY DEGENERATION OF BRAIN |
| 614369 | PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS |
| 615544 | PERIVENTRICULAR NODULAR HETEROTOPIA 6 |
| 267000 | PERLMAN SYNDROME |
| 157950 | PERMANENT MOLARS, SECONDARY RETENTION OF |
| 170900 | PERNICIOUS ANEMIA |
| 170980 | PERONEAL NERVE, ACCESSORY DEEP |
| 261400 | PERONEUS TERTIUS MUSCLE, ABSENCE OF |
| 264470 | PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY |
| 614882 | PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) |
| 614883 | PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) |
| 614885 | PEROXISOME BIOGENESIS DISORDER 11B |
| 614886 | PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) |
| 614887 | PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) |
| 614920 | PEROXISOME BIOGENESIS DISORDER 14B |
| 214100 | PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) |
| 601539 | PEROXISOME BIOGENESIS DISORDER 1B |
| 614859 | PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) |
| 266510 | PEROXISOME BIOGENESIS DISORDER 3B |
| 614862 | PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) |
| 614863 | PEROXISOME BIOGENESIS DISORDER 4B |
| 614866 | PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) |
| 614867 | PEROXISOME BIOGENESIS DISORDER 5B |
| 614870 | PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) |
| 614871 | PEROXISOME BIOGENESIS DISORDER 6B |
| 614872 | PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER) |
| 614873 | PEROXISOME BIOGENESIS DISORDER 7B |
| 614876 | PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER) |
| 614877 | PEROXISOME BIOGENESIS DISORDER 8B |
| 614879 | PEROXISOME BIOGENESIS DISORDER 9B |
| 614926 | PERRAULT SYNDROME 2 |
| 615300 | PERRAULT SYNDROME 4 |
| 168605 | PERRY SYNDROME |
| 261550 | PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II |
| 606445 | PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS |
| 604229 | PETERS ANOMALY |
| 261540 | PETERS-PLUS SYNDROME |
| 175200 | PEUTZ-JEGHERS SYNDROME |
| 171000 | PEYRONIE DISEASE |
| 101600 | PFEIFFER SYNDROME |
| 261560 | PFEIFFER-PALM-TELLER SYNDROME |
| 606519 | PHACE ASSOCIATION |
| 171100 | PHAGOCYTOSIS, PLASMA-RELATED DEFECT IN |
| 261575 | PHAVER SYNDROME |
| 261590 | PHENFORMIN 4-HYDROXYLATION |
| 261600 | PHENYLKETONURIA |
| 171300 | PHEOCHROMOCYTOMA |
| 171420 | PHEOCHROMOCYTOMA--ISLET CELL TUMOR SYNDROME |
| 171450 | PHLEBECTASIA OF LIPS |
| 171480 | PHOCOMELIA-ECTRODACTYLY, EAR MALFORMATION, DEAFNESS, AND SINUS ARRHYTHMIA |
| 601728 | PHOSPHATASE AND TENSIN HOMOLOG |
| 311770 | PHOSPHATIDYLINOSITOL GLYCAN, CLASS A |
| 261680 | PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC |
| 261650 | PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, MITOCHONDRIAL |
| 601815 | PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY |
| 300653 | PHOSPHOGLYCERATE KINASE 1 DEFICIENCY |
| 600522 | PHOSPHOLIPASE A2, GROUP IVA |
| 607120 | PHOSPHOLIPASE C, BETA-1 |
| 300661 | PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY |
| 300798 | PHOSPHORYLASE KINASE, LIVER, ALPHA-2 SUBUNIT |
| 610992 | PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY |
| 614023 | PHOSPHOSERINE PHOSPHATASE DEFICIENCY |
| 172500 | PHOTOMYOCLONUS, DIABETES MELLITUS, DEAFNESS, NEPHROPATHY, AND CEREBRAL DYSFUNCTION |
| 609569 | PHOTOPAROXYSMAL RESPONSE |
| 172700 | PICK DISEASE OF BRAIN |
| 172800 | PIEBALD TRAIT |
| 172850 | PIEBALD TRAIT WITH NEUROLOGIC DEFECTS |
| 311895 | PIERRE ROBIN SEQUENCE WITH FACIAL AND DIGITAL ANOMALIES |
| 602196 | PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES |
| 261800 | PIERRE ROBIN SYNDROME |
| 172880 | PIERRE ROBIN SYNDROME AND OLIGODACTYLY |
| 609049 | PIERSON SYNDROME |
| 301220 | PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS |
| 610489 | PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 |
| 610475 | PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2 |
| 614190 | PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3 |
| 172870 | PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY |
| 172900 | PIGMENTED PURPURIC ERUPTION |
| 261900 | PILI TORTI |
| 261990 | PILI TORTI AND DEVELOPMENTAL DELAY |
| 262020 | PILODENTAL DYSPLASIA WITH REFRACTIVE ERRORS |
| 132600 | PILOMATRIXOMA |
| 173000 | PILONIDAL SINUS |
| 262190 | PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES |
| 610954 | PITT-HOPKINS SYNDROME |
| 614325 | PITT-HOPKINS-LIKE SYNDROME 2 |
| 102200 | PITUITARY ADENOMA, GROWTH HORMONE-SECRETING |
| 600634 | PITUITARY ADENOMA, PROLACTIN-SECRETING |
| 262600 | PITUITARY DWARFISM III |
| 262710 | PITUITARY DWARFISM WITH LARGE SELLA TURCICA |
| 613038 | PITUITARY HORMONE DEFICIENCY, COMBINED, 1 |
| 262700 | PITUITARY HORMONE DEFICIENCY, COMBINED, 4 |
| 613986 | PITUITARY HORMONE DEFICIENCY, COMBINED, 6 |
| 173200 | PITYRIASIS RUBRA PILARIS |
| 602342 | PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY |
| 262800 | PLASMA CLOT RETRACTION FACTOR, DEFICIENCY OF |
| 613329 | PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY |
| 217090 | PLASMINOGEN DEFICIENCY, TYPE I |
| 248310 | PLASMODIUM FALCIPARUM BLOOD INFECTION LEVEL |
| 173400 | PLATELET AGGREGATION, SPONTANEOUS |
| 601399 | PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY |
| 173420 | PLATELET DISORDER, UNDEFINED |
| 173450 | PLATELET FACTOR 3 DEFICIENCY |
| 608404 | PLATELET GLYCOPROTEIN IV DEFICIENCY |
| 262875 | PLATELET PROSTACYCLIN RECEPTOR DEFECT |
| 173580 | PLATELET RESPONSIVENESS TO ADRENALINE, DEPRESSED |
| 173590 | PLATELET SIGNAL PROCESSING DEFECT |
| 173410 | PLATELET-DERIVED GROWTH FACTOR RECEPTOR, BETA |
| 604584 | PLATELET-DERIVED GROWTH FACTOR RECEPTOR-LIKE |
| 151210 | PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE |
| 601216 | PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA |
| 262900 | PLEOCONIAL MYOPATHY WITH SALT CRAVING |
| 601200 | PLEUROPULMONARY BLASTOMA |
| 173600 | PNEUMOTHORAX, PRIMARY SPONTANEOUS |
| 604173 | POIKILODERMA WITH NEUTROPENIA |
| 615704 | POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS |
| 173700 | POIKILODERMA, HEREDITARY SCLEROSING |
| 173800 | POLAND SYNDROME |
| 173850 | POLIOVIRUS RECEPTOR |
| 615688 | POLYARTERITIS NODOSA |
| 173900 | POLYCYSTIC KIDNEY DISEASE 1 |
| 613095 | POLYCYSTIC KIDNEY DISEASE 2 |
| 600666 | POLYCYSTIC KIDNEY DISEASE 3, AUTOSOMAL DOMINANT |
| 263200 | POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE |
| 600273 | POLYCYSTIC KIDNEY DISEASE, INFANTILE SEVERE, WITH TUBEROUS SCLEROSIS |
| 263210 | POLYCYSTIC KIDNEY DISEASE, POTTER TYPE I, WITH MICROBRACHYCEPHALY, HYPERTELORISM, AND BRACHYMELIA |
| 263100 | POLYCYSTIC KIDNEY, CATARACT, AND CONGENITAL BLINDNESS |
| 221770 | POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY |
| 174050 | POLYCYSTIC LIVER DISEASE |
| 184700 | POLYCYSTIC OVARY SYNDROME 1 |
| 263300 | POLYCYTHEMIA VERA |
| 603596 | POLYDACTYLY |
| 263450 | POLYDACTYLY, POSTAXIAL |
| 174200 | POLYDACTYLY, POSTAXIAL, TYPE A1 |
| 602085 | POLYDACTYLY, POSTAXIAL, TYPE A2 |
| 615226 | POLYDACTYLY, POSTAXIAL, TYPE A6 |
| 263540 | POLYDACTYLY, POSTAXIAL, WITH DENTAL AND VERTEBRAL ANOMALIES |
| 174310 | POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA |
| 174400 | POLYDACTYLY, PREAXIAL I |
| 174500 | POLYDACTYLY, PREAXIAL II |
| 174600 | POLYDACTYLY, PREAXIAL III |
| 174700 | POLYDACTYLY, PREAXIAL IV |
| 263570 | POLYGLUCOSAN BODY DISEASE, ADULT FORM |
| 263610 | POLYHYDRAMNIOS, CHRONIC IDIOPATHIC |
| 611087 | POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY |
| 613180 | POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA |
| 614833 | POLYMICROGYRIA WITH SEIZURES |
| 610031 | POLYMICROGYRIA, ASYMMETRIC |
| 606854 | POLYMICROGYRIA, BILATERAL FRONTOPARIETAL |
| 612691 | POLYMICROGYRIA, BILATERAL OCCIPITAL |
| 300388 | POLYMICROGYRIA, BILATERAL PERISYLVIAN |
| 263550 | POLYMYOCLONUS, INFANTILE |
| 612674 | POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT |
| 175505 | POLYPOSIS OF GASTRIC FUNDUS WITHOUT POLYPOSIS COLI |
| 601228 | POLYPOSIS SYNDROME, HEREDITARY MIXED, 1 |
| 610069 | POLYPOSIS SYNDROME, HEREDITARY MIXED, 2 |
| 175020 | POLYPOSIS, GASTRIC |
| 175400 | POLYPOSIS, INTESTINAL, SCATTERED AND DISCRETE |
| 175450 | POLYPOSIS, INTESTINAL, WITH MULTIPLE EXOSTOSES |
| 175500 | POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES |
| 175510 | POLYPS, MULTIPLE AND RECURRENT INFLAMMATORY FIBROID, GASTROINTESTINAL |
| 263600 | POLYSACCHARIDE, STORAGE OF UNUSUAL |
| 263630 | POLYSYNDACTYLY WITH CARDIAC MALFORMATION |
| 175690 | POLYSYNDACTYLY, CROSSED |
| 614688 | PONTINE TEGMENTAL CAP DYSPLASIA |
| 612389 | PONTOCEREBELLAR HYPOPLASIA TYPE 2B |
| 612390 | PONTOCEREBELLAR HYPOPLASIA TYPE 2C |
| 225753 | PONTOCEREBELLAR HYPOPLASIA TYPE 4 |
| 611523 | PONTOCEREBELLAR HYPOPLASIA TYPE 6 |
| 607596 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1 |
| 614678 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1B |
| 277470 | PONTOCEREBELLAR HYPOPLASIA, TYPE 2A |
| 613811 | PONTOCEREBELLAR HYPOPLASIA, TYPE 2D |
| 608027 | PONTOCEREBELLAR HYPOPLASIA, TYPE 3 |
| 610204 | PONTOCEREBELLAR HYPOPLASIA, TYPE 5 |
| 614969 | PONTOCEREBELLAR HYPOPLASIA, TYPE 7 |
| 614961 | PONTOCEREBELLAR HYPOPLASIA, TYPE 8 |
| 175750 | POPLITEAL CYST |
| 119500 | POPLITEAL PTERYGIUM SYNDROME |
| 263650 | POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE |
| 175780 | PORENCEPHALY 1 |
| 614483 | PORENCEPHALY 2 |
| 601322 | PORENCEPHALY, CEREBELLAR HYPOPLASIA, AND INTERNAL MALFORMATIONS |
| 175800 | POROKERATOSIS 1, MIBELLI TYPE |
| 175850 | POROKERATOSIS 2, PALMAR, PLANTAR, AND DISSEMINATED TYPE |
| 175900 | POROKERATOSIS 3, DISSEMINATED SUPERFICIAL ACTINIC TYPE |
| 612353 | POROKERATOSIS 6, DISSEMINATED SUPERFICIAL ACTINIC TYPE |
| 614714 | POROKERATOSIS 7, DISSEMINATED SUPERFICIAL ACTINIC TYPE |
| 176100 | PORPHYRIA CUTANEA TARDA |
| 176090 | PORPHYRIA CUTANEA TARDA, TYPE I |
| 176200 | PORPHYRIA VARIEGATA |
| 612740 | PORPHYRIA, ACUTE HEPATIC |
| 176000 | PORPHYRIA, ACUTE INTERMITTENT |
| 263700 | PORPHYRIA, CONGENITAL ERYTHROPOIETIC |
| 601004 | PORTAL VEIN, CAVERNOUS TRANSFORMATION OF |
| 263750 | POSTAXIAL ACROFACIAL DYSOSTOSIS |
| 176240 | POSTAXIAL OLIGODACTYLY, TETRAMELIC |
| 176250 | POSTERIOR COLUMN ATAXIA |
| 609033 | POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA |
| 176261 | POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 1 |
| 603796 | POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 2 |
| 152427 | POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2 |
| 610883 | POTOCKI-LUPSKI SYNDROME |
| 601224 | POTOCKI-SHAFFER SYNDROME |
| 264010 | PRADER-WILLI HABITUS, OSTEOPENIA, AND CAMPTODACTYLY |
| 176270 | PRADER-WILLI SYNDROME |
| 615547 | PRADER-WILLI-LIKE SYNDROME |
| 176310 | PRE-B-CELL LEUKEMIA TRANSCRIPTION FACTOR 1 |
| 128700 | PREAURICULAR FISTULAE, CONGENITAL |
| 610420 | PREAURICULAR TAG, ISOLATED, AUTOSOMAL DOMINANT, 1 |
| 176305 | PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS |
| 601759 | PREAXIAL HALLUCAL POLYDACTYLY |
| 176400 | PRECOCIOUS PUBERTY, CENTRAL |
| 615346 | PRECOCIOUS PUBERTY, CENTRAL, 2 |
| 176410 | PRECOCIOUS PUBERTY, MALE-LIMITED |
| 189800 | PREECLAMPSIA/ECLAMPSIA 1 |
| 609404 | PREECLAMPSIA/ECLAMPSIA 4 |
| 614595 | PREECLAMPSIA/ECLAMPSIA 5 |
| 614389 | PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1 |
| 614390 | PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2 |
| 614391 | PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3 |
| 176390 | PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 1 |
| 612423 | PREKALLIKREIN DEFICIENCY |
| 601811 | PREMATURE AGING SYNDROME, OKAMOTO TYPE |
| 601812 | PREMATURE AGING SYNDROME, PENTTINEN TYPE |
| 212790 | PREMATURE CENTROMERE DIVISION |
| 176430 | PREMATURE CHROMATID SEPARATION TRAIT |
| 300511 | PREMATURE OVARIAN FAILURE 2A |
| 300604 | PREMATURE OVARIAN FAILURE 2B |
| 608996 | PREMATURE OVARIAN FAILURE 3 |
| 611548 | PREMATURE OVARIAN FAILURE 5 |
| 612310 | PREMATURE OVARIAN FAILURE 6 |
| 612964 | PREMATURE OVARIAN FAILURE 7 |
| 615723 | PREMATURE OVARIAN FAILURE 8 |
| 615724 | PREMATURE OVARIAN FAILURE 9 |
| 264050 | PRENATAL BOWING |
| 264060 | PREPAPILLARY VASCULAR LOOPS |
| 176600 | PRESENILE DEMENTIA, KRAEPELIN TYPE |
| 104311 | PRESENILIN 1 |
| 600759 | PRESENILIN 2 |
| 610504 | PRETERM PREMATURE RUPTURE OF THE MEMBRANES |
| 176620 | PRIAPISM, FAMILIAL IDIOPATHIC |
| 309610 | PRIETO X-LINKED MENTAL RETARDATION SYNDROME |
| 615474 | PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES |
| 611637 | PRIMARY LATERAL SCLEROSIS, ADULT, 1 |
| 606353 | PRIMARY LATERAL SCLEROSIS, JUVENILE |
| 176630 | PRIMARY RELEASE DISORDER OF PLATELETS |
| 602249 | PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES |
| 176690 | PROGEROID SHORT STATURE WITH PIGMENTED NEVI |
| 612289 | PROGEROID SYNDROME, CONGENITAL, PETTY TYPE |
| 264090 | PROGEROID SYNDROME, NEONATAL |
| 264080 | PROGESTERONE RESISTANCE |
| 176700 | PROGNATHISM, MANDIBULAR |
| 157640 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1 |
| 609283 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 2 |
| 609286 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3 |
| 610131 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 4 |
| 613077 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 5 |
| 615156 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 6 |
| 258450 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE |
| 113900 | PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA |
| 604559 | PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB |
| 140400 | PROGRESSIVE FAMILIAL HEART BLOCK, TYPE II |
| 264120 | PROLACTIN DEFICIENCY WITH OBESITY AND ENLARGED TESTES |
| 264110 | PROLACTIN DEFICIENCY, ISOLATED |
| 608415 | PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION |
| 176800 | PRONATION-SUPINATION OF THE FOREARM, IMPAIRMENT OF |
| 609734 | PROOPIOMELANOCORTIN DEFICIENCY |
| 312060 | PROPERDIN DEFICIENCY, X-LINKED |
| 606054 | PROPIONIC ACIDEMIA |
| 600955 | PROPROTEIN CONVERTASE 1/3 DEFICIENCY |
| 610382 | PROSOPAGNOSIA, HEREDITARY |
| 176807 | PROSTATE CANCER |
| 601518 | PROSTATE CANCER, HEREDITARY, 1 |
| 300147 | PROSTATE CANCER, HEREDITARY, X-LINKED 1 |
| 603688 | PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY |
| 600082 | PROSTATIC HYPERPLASIA, BENIGN |
| 107400 | PROTEASE INHIBITOR 1 |
| 176960 | PROTEIN KINASE C, ALPHA |
| 312090 | PROTEIN P3 |
| 611521 | PROTEIN-TYROSINE KINASE 2 DEFICIENCY |
| 308990 | PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS |
| 176920 | PROTEUS SYNDROME |
| 613679 | PROTHROMBIN DEFICIENCY, CONGENITAL |
| 177000 | PROTOPORPHYRIA, ERYTHROPOIETIC |
| 300752 | PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED |
| 177050 | PROTRUSIO ACETABULI |
| 600706 | PROXIMAL MYOPATHY WITH FOCAL DEPLETION OF MITOCHONDRIA |
| 264140 | PRUNE BELLY SYNDROME WITH PULMONIC STENOSIS, MENTAL RETARDATION, AND DEAFNESS |
| 178995 | PRURITIC URTICARIAL PAPULES AND PLAQUES OF PREGNANCY |
| 177100 | PRURITUS, HEREDITARY LOCALIZED |
| 177820 | PSEUDO-VON WILLEBRAND DISEASE |
| 177170 | PSEUDOACHONDROPLASIA |
| 177300 | PSEUDOARTHROGRYPOSIS |
| 177350 | PSEUDOATROPHODERMA COLLI |
| 177600 | PSEUDOCHOLINESTERASE, INCREASE IN PLASMA LEVEL OF |
| 264180 | PSEUDODIASTROPHIC DYSPLASIA |
| 264270 | PSEUDOHERMAPHRODITISM, FEMALE, WITH SKELETAL ANOMALIES |
| 312100 | PSEUDOHERMAPHRODITISM, INCOMPLETE MALE, TYPE I |
| 185020 | PSEUDOHYPERKALEMIA CARDIFF |
| 609153 | PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK |
| 177735 | PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT |
| 264350 | PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE |
| 145260 | PSEUDOHYPOALDOSTERONISM, TYPE II |
| 614491 | PSEUDOHYPOALDOSTERONISM, TYPE IIB |
| 614492 | PSEUDOHYPOALDOSTERONISM, TYPE IIC |
| 614495 | PSEUDOHYPOALDOSTERONISM, TYPE IID |
| 614496 | PSEUDOHYPOALDOSTERONISM, TYPE IIE |
| 103580 | PSEUDOHYPOPARATHYROIDISM, TYPE IA |
| 603233 | PSEUDOHYPOPARATHYROIDISM, TYPE IB |
| 612462 | PSEUDOHYPOPARATHYROIDISM, TYPE IC |
| 203330 | PSEUDOHYPOPARATHYROIDISM, TYPE II |
| 264475 | PSEUDOPAPILLEDEMA, OCULAR HYPOTELORISM, BLEPHAROPHIMOSIS, AND HAND ANOMALIES |
| 613241 | PSEUDOPILI ANNULATI |
| 612463 | PSEUDOPSEUDOHYPOPARATHYROIDISM |
| 264480 | PSEUDOTRISOMY 13 SYNDROME |
| 264500 | PSEUDOURIDINURIA AND MENTAL DEFECT |
| 264600 | PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS |
| 264800 | PSEUDOXANTHOMA ELASTICUM |
| 177850 | PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE |
| 610842 | PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY |
| 177900 | PSORIASIS SUSCEPTIBILITY 1 |
| 614501 | PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM |
| 177980 | PTERYGIA, MENTAL RETARDATION, AND DISTINCTIVE CRANIOFACIAL FEATURES |
| 600159 | PTERYGIUM COLLI AND MENTAL RETARDATION WITH FACIAL AND DIGITAL ANOMALIES |
| 177990 | PTERYGIUM COLLI, ISOLATED |
| 178000 | PTERYGIUM OF CONJUNCTIVA AND CORNEA |
| 178200 | PTERYGIUM, ANTECUBITAL |
| 178300 | PTOSIS, HEREDITARY CONGENITAL 1 |
| 300245 | PTOSIS, HEREDITARY CONGENITAL 2 |
| 178330 | PTOSIS, STRABISMUS, AND ECTOPIC PUPILS |
| 178350 | PUBIC BONE DYSPLASIA |
| 600096 | PUERTO RICAN INFANT HYPOTONIA SYNDROME |
| 265100 | PULMONARY ALVEOLAR MICROLITHIASIS |
| 610910 | PULMONARY ALVEOLAR PROTEINOSIS, ACQUIRED |
| 265140 | PULMONARY ARTERIOVENOUS FISTULAS |
| 265150 | PULMONARY ATRESIA WITH INTACT VENTRICULAR SEPTUM |
| 178370 | PULMONARY ATRESIA WITH VENTRICULAR SEPTAL DEFECT |
| 265200 | PULMONARY BULLAE CAUSING PNEUMOTHORAX |
| 178400 | PULMONARY EDEMA OF MOUNTAINEERS |
| 614742 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 |
| 614743 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2 |
| 178500 | PULMONARY FIBROSIS, IDIOPATHIC |
| 178550 | PULMONARY HEMOSIDEROSIS |
| 178600 | PULMONARY HYPERTENSION, PRIMARY, 1 |
| 615342 | PULMONARY HYPERTENSION, PRIMARY, 2 |
| 615343 | PULMONARY HYPERTENSION, PRIMARY, 3 |
| 265400 | PULMONARY HYPERTENSION, PRIMARY, AUTOSOMAL RECESSIVE |
| 178610 | PULMONARY NODULAR LYMPHOID HYPERPLASIA, FAMILIAL |
| 265450 | PULMONARY VENOOCCLUSIVE DISEASE |
| 265500 | PULMONIC STENOSIS |
| 178651 | PULMONIC STENOSIS AND DEAFNESS |
| 178650 | PULMONIC STENOSIS, ATRIAL SEPTAL DEFECT, AND UNIQUE ELECTROCARDIOGRAPHIC ABNORMALITIES |
| 178800 | PUPIL, EGG-SHAPED |
| 178900 | PUPILLARY MEMBRANE, PERSISTENCE OF |
| 613179 | PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY |
| 600845 | PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 1 |
| 179000 | PURPURA SIMPLEX |
| 614204 | PUSTULAR PSORIASIS, GENERALIZED |
| 265800 | PYCNODYSOSTOSIS |
| 265850 | PYGMY |
| 265880 | PYKNOACHONDROGENESIS |
| 265900 | PYLE DISEASE |
| 265950 | PYLORIC ATRESIA |
| 179010 | PYLORIC STENOSIS, INFANTILE HYPERTROPHIC 1 |
| 604416 | PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE |
| 610090 | PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY |
| 266140 | PYROPOIKILOCYTOSIS, HEREDITARY |
| 266150 | PYRUVATE CARBOXYLASE DEFICIENCY |
| 312170 | PYRUVATE DECARBOXYLASE DEFICIENCY |
| 614111 | PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY |
| 245348 | PYRUVATE DEHYDROGENASE E2 DEFICIENCY |
| 245349 | PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY |
| 614462 | PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY |
| 608782 | PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY |
| 266200 | PYRUVATE KINASE DEFICIENCY OF RED CELLS |
| 601709 | QUEBEC PLATELET DISORDER |
| 612798 | QUESTION MARK EARS, ISOLATED |
| 312190 | RADIAL APLASIA, X-LINKED |
| 179200 | RADIAL HEADS, POSTERIOR DISLOCATION OF |
| 179250 | RADIAL HYPOPLASIA, TRIPHALANGEAL THUMBS, HYPOSPADIAS, AND MAXILLARY DIASTEMA |
| 312200 | RADIAL LOOP, PLAIN, ON RIGHT INDEX FINGER |
| 179270 | RADIAL RAY HYPOPLASIA WITH CHOANAL ATRESIA |
| 179280 | RADIAL-RENAL SYNDROME |
| 312210 | RADIATION SENSITIVITY OF NATURAL KILLER ACTIVITY |
| 266250 | RADICULONEUROPATHY, FATAL NEONATAL |
| 111620 | RADIN BLOOD GROUP ANTIGEN |
| 614416 | RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES |
| 179300 | RADIOULNAR SYNOSTOSIS |
| 605432 | RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA |
| 603438 | RADIOULNAR SYNOSTOSIS WITH MICROCEPHALY, SHORT STATURE, SCOLIOSIS, AND MENTAL RETARDATION |
| 266255 | RADIOULNAR SYNOSTOSIS, UNILATERAL, WITH DEVELOPMENTAL RETARDATION AND HYPOTONIA |
| 179400 | RADIUS, APLASIA OF, WITH CLEFT LIP/PALATE |
| 179450 | RAGWEED SENSITIVITY |
| 179500 | RAINDROP HYPOPIGMENTATION |
| 259775 | RAINE SYNDROME |
| 613658 | RAJAB SYNDROME |
| 266270 | RAMON SYNDROME |
| 266280 | RAPADILINO SYNDROME |
| 129400 | RAPP-HODGKIN SYNDROME |
| 179600 | RAYNAUD DISEASE |
| 614041 | RB1 GENE |
| 601592 | RECEPTOR-ASSOCIATED PROTEIN OF THE SYNAPSE, 43-KD |
| 179613 | RECOMBINANT CHROMOSOME 8 SYNDROME |
| 179618 | RECOVERIN |
| 179650 | RED CELL PERMEABILITY DEFECT |
| 179700 | RED CELL PHOSPHOLIPID DEFECT WITH HEMOLYSIS |
| 266350 | RED SKIN PIGMENT ANOMALY OF NEW GUINEA |
| 266400 | REESE RETINAL DYSPLASIA |
| 266500 | REFSUM DISEASE |
| 167770 | REGENERATING ISLET-DERIVED 1-ALPHA |
| 191830 | RENAL ADYSPLASIA |
| 266810 | RENAL AND MULLERIAN DUCT HYPOPLASIA |
| 144700 | RENAL CELL CARCINOMA |
| 605074 | RENAL CELL CARCINOMA, PAPILLARY |
| 300854 | RENAL CELL CARCINOMA, Xp11-ASSOCIATED |
| 137920 | RENAL CYSTS AND DIABETES SYNDROME |
| 601331 | RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO |
| 266910 | RENAL DYSPLASIA-LIMB DEFECTS SYNDROME |
| 161900 | RENAL FAILURE, PROGRESSIVE, WITH HYPERTENSION |
| 233100 | RENAL GLUCOSURIA |
| 615721 | RENAL HYPODYSPLASIA/APLASIA 2 |
| 267200 | RENAL TUBULAR ACIDOSIS III |
| 179800 | RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT |
| 602722 | RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE |
| 611590 | RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA |
| 267300 | RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS |
| 179830 | RENAL TUBULAR ACIDOSIS, PROXIMAL |
| 604278 | RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION |
| 267430 | RENAL TUBULAR DYSGENESIS |
| 560000 | RENAL TUBULOPATHY, DIABETES MELLITUS, AND CEREBELLAR ATAXIA |
| 267400 | RENAL, GENITAL, AND MIDDLE EAR ANOMALIES |
| 208540 | RENAL-HEPATIC-PANCREATIC DYSPLASIA |
| 615415 | RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 |
| 179820 | RENIN |
| 312420 | RENIN-BINDING PROTEIN |
| 309500 | RENPENNING SYNDROME 1 |
| 267450 | RESPIRATORY DISTRESS SYNDROME IN PREMATURE INFANTS |
| 267480 | RESPIRATORY UNDERRESPONSIVENESS TO HYPOXIA AND HYPERCAPNIA |
| 102300 | RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1 |
| 275210 | RESTRICTIVE DERMOPATHY, LETHAL |
| 267500 | RETICULAR DYSGENESIS |
| 179840 | RETICULAR DYSTROPHY OF RETINAL PIGMENT EPITHELIUM |
| 615537 | RETICULATE ACROPIGMENTATION OF KITAMURA |
| 312500 | RETICULOENDOTHELIOSIS, X-LINKED |
| 267730 | RETICULUM CELL SARCOMA |
| 179900 | RETINAL APLASIA |
| 614224 | RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS |
| 180000 | RETINAL ARTERIES, TORTUOSITY OF |
| 180020 | RETINAL CONE DYSTROPHY 1 |
| 610024 | RETINAL CONE DYSTROPHY 3A |
| 610356 | RETINAL CONE DYSTROPHY 3B |
| 610478 | RETINAL CONE DYSTROPHY 4 |
| 267740 | RETINAL DEGENERATION AND EPILEPSY |
| 267760 | RETINAL DEGENERATION WITH NANOPHTHALMOS, CYSTIC MACULAR DEGENERATION, AND ANGLE CLOSURE GLAUCOMA |
| 180050 | RETINAL DETACHMENT |
| 312530 | RETINAL DETACHMENT |
| 312550 | RETINAL DYSPLASIA, PRIMARY |
| 615147 | RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME |
| 267800 | RETINAL DYSTROPHY, RETICULAR PIGMENTARY, OF POSTERIOR POLE |
| 180070 | RETINAL NONATTACHMENT AND FALCIFORM DETACHMENT |
| 221900 | RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL |
| 267900 | RETINAL TELANGIECTASIA AND HYPOGAMMAGLOBULINEMIA |
| 180080 | RETINAL VENOUS BEADING |
| 268000 | RETINITIS PIGMENTOSA |
| 180100 | RETINITIS PIGMENTOSA 1 |
| 180105 | RETINITIS PIGMENTOSA 10 |
| 600138 | RETINITIS PIGMENTOSA 11 |
| 600105 | RETINITIS PIGMENTOSA 12 |
| 600059 | RETINITIS PIGMENTOSA 13 |
| 600132 | RETINITIS PIGMENTOSA 14 |
| 300029 | RETINITIS PIGMENTOSA 15 |
| 600852 | RETINITIS PIGMENTOSA 17 |
| 601414 | RETINITIS PIGMENTOSA 18 |
| 601718 | RETINITIS PIGMENTOSA 19 |
| 312600 | RETINITIS PIGMENTOSA 2 |
| 613794 | RETINITIS PIGMENTOSA 20 |
| 300424 | RETINITIS PIGMENTOSA 23 |
| 300155 | RETINITIS PIGMENTOSA 24 |
| 602772 | RETINITIS PIGMENTOSA 25 |
| 608380 | RETINITIS PIGMENTOSA 26 |
| 613750 | RETINITIS PIGMENTOSA 27 |
| 606068 | RETINITIS PIGMENTOSA 28 |
| 612165 | RETINITIS PIGMENTOSA 29 |
| 607921 | RETINITIS PIGMENTOSA 30 |
| 609923 | RETINITIS PIGMENTOSA 31 |
| 610359 | RETINITIS PIGMENTOSA 33 |
| 300605 | RETINITIS PIGMENTOSA 34 |
| 610282 | RETINITIS PIGMENTOSA 35 |
| 610599 | RETINITIS PIGMENTOSA 36 |
| 611131 | RETINITIS PIGMENTOSA 37 |
| 613862 | RETINITIS PIGMENTOSA 38 |
| 613809 | RETINITIS PIGMENTOSA 39 |
| 613731 | RETINITIS PIGMENTOSA 4 |
| 613801 | RETINITIS PIGMENTOSA 40 |
| 612095 | RETINITIS PIGMENTOSA 41 |
| 612943 | RETINITIS PIGMENTOSA 42 |
| 613810 | RETINITIS PIGMENTOSA 43 |
| 613769 | RETINITIS PIGMENTOSA 44 |
| 613767 | RETINITIS PIGMENTOSA 45 |
| 612572 | RETINITIS PIGMENTOSA 46 |
| 613758 | RETINITIS PIGMENTOSA 47 |
| 613827 | RETINITIS PIGMENTOSA 48 |
| 613756 | RETINITIS PIGMENTOSA 49 |
| 613194 | RETINITIS PIGMENTOSA 50 |
| 613464 | RETINITIS PIGMENTOSA 51 |
| 613428 | RETINITIS PIGMENTOSA 54 |
| 613575 | RETINITIS PIGMENTOSA 55 |
| 613581 | RETINITIS PIGMENTOSA 56 |
| 613582 | RETINITIS PIGMENTOSA 57 |
| 613617 | RETINITIS PIGMENTOSA 58 |
| 613861 | RETINITIS PIGMENTOSA 59 |
| 312612 | RETINITIS PIGMENTOSA 6 |
| 613983 | RETINITIS PIGMENTOSA 60 |
| 614180 | RETINITIS PIGMENTOSA 61 |
| 614181 | RETINITIS PIGMENTOSA 62 |
| 614494 | RETINITIS PIGMENTOSA 63 |
| 615233 | RETINITIS PIGMENTOSA 66 |
| 615565 | RETINITIS PIGMENTOSA 67 |
| 615725 | RETINITIS PIGMENTOSA 68 |
| 608133 | RETINITIS PIGMENTOSA 7 |
| 180104 | RETINITIS PIGMENTOSA 9 |
| 268010 | RETINITIS PIGMENTOSA INVERSA WITH DEAFNESS |
| 615434 | RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS |
| 268020 | RETINITIS PIGMENTOSA, DEAFNESS, MENTAL RETARDATION, AND HYPOGONADISM |
| 268025 | RETINITIS PIGMENTOSA, LATE-ADULT ONSET |
| 300455 | RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS |
| 500004 | RETINITIS PIGMENTOSA-DEAFNESS SYNDROME |
| 180200 | RETINOBLASTOMA |
| 268040 | RETINOHEPATOENDOCRINOLOGIC SYNDROME |
| 268060 | RETINOPATHY, PERICENTRAL PIGMENTARY, AUTOSOMAL RECESSIVE |
| 180210 | RETINOPATHY, PERICENTRAL PIGMENTARY, DOMINANT |
| 268050 | RETINOPATHY, PIGMENTARY, AND MENTAL RETARDATION |
| 300839 | RETINOSCHISIN |
| 312700 | RETINOSCHISIS 1, X-LINKED, JUVENILE |
| 268080 | RETINOSCHISIS OF FOVEA |
| 180270 | RETINOSCHISIS, AUTOSOMAL DOMINANT |
| 312750 | RETT SYNDROME |
| 613454 | RETT SYNDROME, CONGENITAL VARIANT |
| 268130 | REVESZ SYNDROME |
| 613471 | REYNOLDS SYNDROME |
| 268150 | RH-NULL, REGULATOR TYPE |
| 609322 | RHABDOID TUMOR PREDISPOSITION SYNDROME 1 |
| 613325 | RHABDOID TUMOR PREDISPOSITION SYNDROME 2 |
| 268210 | RHABDOMYOSARCOMA 1 |
| 268220 | RHABDOMYOSARCOMA 2 |
| 111700 | RHESUS BLOOD GROUP, CcEe ANTIGENS |
| 180300 | RHEUMATOID ARTHRITIS |
| 604302 | RHEUMATOID ARTHRITIS, SYSTEMIC JUVENILE |
| 180350 | RHEUMATOID NODULOSIS |
| 180360 | RHINY |
| 215100 | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 |
| 222765 | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 |
| 600121 | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3 |
| 601438 | RHIZOMELIC DYSPLASIA, PATTERSON-LOWRY TYPE |
| 610319 | RHIZOMELIC DYSPLASIA, SCOLIOSIS, AND RETINITIS PIGMENTOSA |
| 268250 | RHIZOMELIC SYNDROME |
| 602152 | RHYNS SYNDROME |
| 601477 | RIBBING DISEASE |
| 615026 | RIBOFLAVIN DEFICIENCY |
| 608611 | RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY |
| 312760 | RIBOSOMAL PROTEIN S4, X-LINKED |
| 470000 | RIBOSOMAL PROTEIN S4, Y-LINKED, 1 |
| 268850 | RICHIERI-COSTA/GUION-ALMEIDA SYNDROME |
| 611943 | RIDDLE SYNDROME |
| 615582 | RIENHOFF SYNDROME |
| 610338 | RIGHT PULMONARY ARTERY, ANOMALOUS ORIGIN OF, FAMILIAL |
| 277200 | RIGHT VENTRICULAR HYPOPLASIA, ISOLATED |
| 602771 | RIGID SPINE MUSCULAR DYSTROPHY 1 |
| 614498 | RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL |
| 180550 | RING DERMOID OF CORNEA |
| 180600 | RINGED HAIR |
| 606072 | RIPPLING MUSCLE DISEASE |
| 600332 | RIPPLING MUSCLE DISEASE 1 |
| 268300 | ROBERTS SYNDROME |
| 268305 | ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES |
| 180700 | ROBINOW SYNDROME, AUTOSOMAL DOMINANT |
| 268310 | ROBINOW SYNDROME, AUTOSOMAL RECESSIVE |
| 180750 | ROBINOW-SORAUF SYNDROME |
| 268320 | RODRIGUES BLINDNESS |
| 300258 | ROIFMAN SYNDROME |
| 613328 | ROIFMAN-CHITAYAT SYNDROME |
| 601085 | ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, AUTOSOMAL DOMINANT |
| 300643 | ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED |
| 180730 | ROMBO SYNDROME |
| 225000 | ROSSELLI-GULIENETTI SYNDROME |
| 268400 | ROTHMUND-THOMSON SYNDROME |
| 180800 | ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA |
| 268500 | ROWLEY-ROSENBERG SYNDROME |
| 180849 | RUBINSTEIN-TAYBI SYNDROME 1 |
| 613684 | RUBINSTEIN-TAYBI SYNDROME 2 |
| 268650 | RUDIGER SYNDROME |
| 312780 | RUSSELL-SILVER SYNDROME, X-LINKED |
| 180900 | RUTHERFURD SYNDROME |
| 180870 | RUVALCABA SYNDROME |
| 603114 | S100 CALCIUM-BINDING PROTEIN A11 |
| 211390 | SABINAS BRITTLE HAIR SYNDROME |
| 268700 | SACCHAROPINURIA |
| 615709 | SACRAL AGENESIS WITH VERTEBRAL ANOMALIES |
| 600145 | SACRAL DEFECT WITH ANTERIOR MENINGOCELE |
| 101400 | SAETHRE-CHOTZEN SYNDROME |
| 181010 | SALIVARY DUCT CALCULI |
| 181030 | SALIVARY GLAND ADENOMA, PLEOMORPHIC |
| 604369 | SALLA DISEASE |
| 268800 | SANDHOFF DISEASE |
| 613005 | SANTOS SYNDROME |
| 609464 | SARCOIDOSIS, EARLY-ONSET |
| 181000 | SARCOIDOSIS, SUSCEPTIBILITY TO, 1 |
| 300813 | SARCOMA, SYNOVIAL |
| 268900 | SARCOSINEMIA |
| 600705 | SATOYOSHI SYNDROME |
| 181180 | SAY SYNDROME |
| 269000 | SC PHOCOMELIA SYNDROME |
| 181250 | SCALP DEFECTS AND POSTAXIAL POLYDACTYLY |
| 181270 | SCALP-EAR-NIPPLE SYNDROME |
| 609579 | SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION |
| 181300 | SCAPULA, CONTOUR OF VERTEBRAL BORDER OF |
| 181430 | SCAPULOPERONEAL MYOPATHY, MYH7-RELATED |
| 300695 | SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT |
| 181400 | SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE |
| 312830 | SCARF SYNDROME |
| 607016 | SCHEIE SYNDROME |
| 181440 | SCHEUERMANN DISEASE |
| 164220 | SCHILBACH-ROTT SYNDROME |
| 312840 | SCHIMKE X-LINKED MENTAL RETARDATION SYNDROME |
| 163200 | SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME |
| 609241 | SCHINDLER DISEASE, TYPE I |
| 269150 | SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME |
| 181460 | SCHISTOSOMA MANSONI INFECTION, SUSCEPTIBILITY/RESISTANCE TO |
| 269160 | SCHIZENCEPHALY |
| 181500 | SCHIZOPHRENIA |
| 181510 | SCHIZOPHRENIA 1 |
| 605419 | SCHIZOPHRENIA 10 |
| 613950 | SCHIZOPHRENIA 15 |
| 600511 | SCHIZOPHRENIA 3 |
| 600850 | SCHIZOPHRENIA 4 |
| 269250 | SCHNECKENBECKEN DYSPLASIA |
| 181515 | SCHOLTE SYNDROME |
| 224750 | SCHOPF-SCHULZ-PASSARGE SYNDROME |
| 162091 | SCHWANNOMATOSIS |
| 615670 | SCHWANNOMATOSIS 2 |
| 255800 | SCHWARTZ-JAMPEL SYNDROME, TYPE 1 |
| 269300 | SCHWARTZ-LELEK SYNDROME |
| 269400 | SCLEROCORNEA |
| 181700 | SCLEROCORNEA, AUTOSOMAL DOMINANT |
| 181750 | SCLERODERMA, FAMILIAL PROGRESSIVE |
| 269500 | SCLEROSTEOSIS |
| 614305 | SCLEROSTEOSIS 2 |
| 181600 | SCLEROTYLOSIS |
| 612445 | SCOLIOSIS, ARACHNODACTYLY, AND BLINDNESS |
| 181800 | SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 1 |
| 312860 | SCOTT CRANIODIGITAL SYNDROME WITH MENTAL RETARDATION |
| 262890 | SCOTT SYNDROME |
| 269600 | SEA-BLUE HISTIOCYTE DISEASE |
| 601700 | SEBACEOUS GLAND HYPERPLASIA, FAMILIAL PRESENILE |
| 605249 | SEBASTIAN SYNDROME |
| 610227 | SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS |
| 210600 | SECKEL SYNDROME 1 |
| 606744 | SECKEL SYNDROME 2 |
| 613676 | SECKEL SYNDROME 4 |
| 613823 | SECKEL SYNDROME 5 |
| 614728 | SECKEL SYNDROME 6 |
| 614851 | SECKEL SYNDROME 7 |
| 269630 | SECOND METATARSAL-METACARPAL SYNDROME |
| 269650 | SECRETORY COMPONENT DEFICIENCY |
| 605407 | SEGAWA SYNDROME, AUTOSOMAL RECESSIVE |
| 148900 | SEGMENTATION SYNDROME 1 |
| 601764 | SEIZURES, BENIGN FAMILIAL INFANTILE, 1 |
| 605751 | SEIZURES, BENIGN FAMILIAL INFANTILE, 2 |
| 607745 | SEIZURES, BENIGN FAMILIAL INFANTILE, 3 |
| 121201 | SEIZURES, BENIGN FAMILIAL NEONATAL, 2 |
| 608217 | SEIZURES, BENIGN FAMILIAL NEONATAL, 3 |
| 269720 | SEIZURES, BENIGN FAMILIAL NEONATAL, AUTOSOMAL RECESSIVE |
| 612780 | SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE |
| 269840 | SELECTIVE T-CELL DEFECT |
| 182200 | SELLA TURCICA, BRIDGED |
| 606156 | SENER SYNDROME |
| 269800 | SENILE PLAQUE FORMATION |
| 266900 | SENIOR-LOKEN SYNDROME 1 |
| 606995 | SENIOR-LOKEN SYNDROME 3 |
| 606996 | SENIOR-LOKEN SYNDROME 4 |
| 609254 | SENIOR-LOKEN SYNDROME 5 |
| 610189 | SENIOR-LOKEN SYNDROME 6 |
| 613615 | SENIOR-LOKEN SYNDROME 7 |
| 607459 | SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS |
| 182230 | SEPTOOPTIC DYSPLASIA |
| 107300 | SERPIN PEPTIDASE INHIBITOR, CLADE C (ANTITHROMBIN), MEMBER 1 |
| 305700 | SERTOLI CELL-ONLY SYNDROME |
| 600960 | SET TRANSLOCATION, MYELOID LEUKEMIA-ASSOCIATED |
| 600598 | SETTING-SUN PHENOMENON, FAMILIAL BENIGN |
| 611291 | SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION |
| 602450 | SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION |
| 102700 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY |
| 601457 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE |
| 600802 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE |
| 608971 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE |
| 300400 | SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED |
| 608579 | SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO |
| 480000 | SEX-DETERMINING REGION Y |
| 615328 | SHAHEEN SYNDROME |
| 609620 | SHORT QT SYNDROME 1 |
| 609621 | SHORT QT SYNDROME 2 |
| 609622 | SHORT QT SYNDROME 3 |
| 263530 | SHORT RIB-POLYDACTYLY SYNDROME, TYPE I |
| 263520 | SHORT RIB-POLYDACTYLY SYNDROME, TYPE II |
| 615087 | SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIB |
| 263510 | SHORT RIB-POLYDACTYLY SYNDROME, TYPE III |
| 269860 | SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV |
| 614091 | SHORT RIB-POLYDACTYLY SYNDROME, TYPE V |
| 612975 | SHORT SLEEPER |
| 609654 | SHORT STATURE AND FACIOAURICULOTHORACIC MALFORMATIONS |
| 601350 | SHORT STATURE SYNDROME, BRUSSELS TYPE |
| 602471 | SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES |
| 604271 | SHORT STATURE, IDIOPATHIC, AUTOSOMAL |
| 300582 | SHORT STATURE, IDIOPATHIC, X-LINKED |
| 614813 | SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS |
| 614800 | SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY |
| 269870 | SHORT STATURE-OBESITY SYNDROME |
| 269880 | SHORT SYNDROME |
| 600269 | SHORT TARSUS WITH ABSENCE OF LOWER EYELASHES |
| 615630 | SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY |
| 615633 | SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY |
| 615503 | SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY |
| 182210 | SHPRINTZEN OMPHALOCELE SYNDROME |
| 182212 | SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME |
| 260400 | SHWACHMAN-DIAMOND SYNDROME |
| 269921 | SIALURIA |
| 608567 | SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE |
| 163800 | SICK SINUS SYNDROME 2, AUTOSOMAL DOMINANT |
| 603903 | SICKLE CELL ANEMIA |
| 300263 | SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME |
| 180860 | SILVER-RUSSELL SYNDROME |
| 182090 | SIMIAN SARCOMA-ASSOCIATED VIRUS-1/GIBBON APE LEUKEMIA VIRUS |
| 182150 | SIMOSA CRANIOFACIAL SYNDROME |
| 312870 | SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 |
| 300209 | SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 |
| 182250 | SINGLETON-MERTEN SYNDROME |
| 614896 | SINOATRIAL NODE DYSFUNCTION AND DEAFNESS |
| 182190 | SINUS NODE DISEASE AND MYOPIA |
| 210250 | SITOSTEROLEMIA |
| 270150 | SJOGREN SYNDROME |
| 270200 | SJOGREN-LARSSON SYNDROME |
| 270220 | SJOGREN-LARSSON-LIKE ICHTHYOSIS WITHOUT CNS OR EYE INVOLVEMENT |
| 612447 | SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION |
| 602613 | SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION, LETHAL |
| 182255 | SKELETAL DYSPLASIA WITH DELAYED EPIPHYSEAL AND CARPAL BONE OSSIFICATION |
| 156610 | SKIN CREASES, MULTIPLE BENIGN RING-SHAPED, OF LIMBS |
| 607655 | SKIN FRAGILITY-WOOLLY HAIR SYNDROME |
| 227220 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1 |
| 612271 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 11 |
| 266300 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 |
| 113750 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 4 |
| 227240 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5 |
| 210750 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 6 |
| 270350 | SKUNK N-BUTYLMERCAPTAN, INABILITY TO SMELL |
| 182260 | SLIPPED FEMORAL CAPITAL EPIPHYSES |
| 608236 | SLOWED NERVE CONDUCTION VELOCITY, AUTOSOMAL DOMINANT |
| 182280 | SMALL CELL CANCER OF THE LUNG |
| 147891 | SMALL PATELLA SYNDROME |
| 270400 | SMITH-LEMLI-OPITZ SYNDROME |
| 182290 | SMITH-MAGENIS SYNDROME |
| 607326 | SMITH-MCCORT DYSPLASIA |
| 615222 | SMITH-MCCORT DYSPLASIA 2 |
| 182410 | SNEDDON SYNDROME |
| 182390 | SODIUM CHANNEL, VOLTAGE-GATED, TYPE II, ALPHA SUBUNIT |
| 613508 | SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1 |
| 270425 | SODIUM-POTASSIUM-ATPase ACTIVITY OF RED CELL |
| 147250 | SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR |
| 109270 | SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1 |
| 270460 | SONODA SYNDROME |
| 117550 | SOTOS SYNDROME |
| 614753 | SOTOS SYNDROME 2 |
| 607223 | SPARC-RELATED MODULAR CALCIUM-BINDING PROTEIN 2 |
| 614487 | SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE |
| 270550 | SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE |
| 270600 | SPASTIC DIPLEGIA, INFANTILE TYPE |
| 607225 | SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING |
| 312910 | SPASTIC PARAPARESIS AND DEAFNESS |
| 604187 | SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT |
| 604360 | SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE |
| 604805 | SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT |
| 605280 | SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT |
| 605229 | SPASTIC PARAPLEGIA 14, AUTOSOMAL RECESSIVE |
| 270700 | SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE |
| 300266 | SPASTIC PARAPLEGIA 16, X-LINKED |
| 270685 | SPASTIC PARAPLEGIA 17 |
| 611225 | SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE |
| 607152 | SPASTIC PARAPLEGIA 19, AUTOSOMAL DOMINANT |
| 312920 | SPASTIC PARAPLEGIA 2, X-LINKED |
| 275900 | SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE |
| 270750 | SPASTIC PARAPLEGIA 23 |
| 607584 | SPASTIC PARAPLEGIA 24, AUTOSOMAL RECESSIVE |
| 608220 | SPASTIC PARAPLEGIA 25, AUTOSOMAL RECESSIVE |
| 609195 | SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE |
| 609041 | SPASTIC PARAPLEGIA 27, AUTOSOMAL RECESSIVE |
| 609340 | SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE |
| 609727 | SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT |
| 182600 | SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT |
| 610357 | SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE |
| 610250 | SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT |
| 611252 | SPASTIC PARAPLEGIA 32, AUTOSOMAL RECESSIVE |
| 610244 | SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT |
| 300750 | SPASTIC PARAPLEGIA 34, X-LINKED |
| 612319 | SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE |
| 613096 | SPASTIC PARAPLEGIA 36, AUTOSOMAL DOMINANT |
| 611945 | SPASTIC PARAPLEGIA 37, AUTOSOMAL DOMINANT |
| 612335 | SPASTIC PARAPLEGIA 38, AUTOSOMAL DOMINANT |
| 612020 | SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE |
| 182601 | SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT |
| 613364 | SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT |
| 612539 | SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT |
| 615043 | SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE |
| 613206 | SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE |
| 613162 | SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE |
| 614409 | SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE |
| 614066 | SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE |
| 613647 | SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE |
| 615031 | SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE |
| 614067 | SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE |
| 614898 | SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE |
| 615033 | SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE |
| 615035 | SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE |
| 615030 | SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE |
| 615658 | SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE |
| 270800 | SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE |
| 600146 | SPASTIC PARAPLEGIA 5B, AUTOSOMAL RECESSIVE |
| 600363 | SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT |
| 615683 | SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE |
| 607259 | SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE |
| 615625 | SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE |
| 603563 | SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT |
| 601162 | SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT |
| 601608 | SPASTIC PARAPLEGIA AND EVANS SYNDROME |
| 182800 | SPASTIC PARAPLEGIA WITH ASSOCIATED EXTRAPYRAMIDAL SIGNS |
| 182815 | SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA |
| 182820 | SPASTIC PARAPLEGIA WITH PRECOCIOUS PUBERTY |
| 607565 | SPASTIC PARAPLEGIA, ATAXIA, AND MENTAL RETARDATION |
| 182610 | SPASTIC PARAPLEGIA, EPILEPSY, AND MENTAL RETARDATION |
| 182830 | SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND DEMENTIA |
| 609541 | SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY |
| 182690 | SPASTIC PARAPLEGIA, SENSORINEURAL DEAFNESS, MENTAL RETARDATION, AND PROGRESSIVE NEPHROPATHY |
| 270850 | SPASTIC PARESIS, GLAUCOMA, AND MENTAL RETARDATION |
| 270900 | SPASTIC PSEUDOSCLEROSIS |
| 270950 | SPASTIC QUADRIPLEGIA, RETINITIS PIGMENTOSA, AND MENTAL RETARDATION |
| 313000 | SPATIAL VISUALIZATION, APTITUDE FOR |
| 245480 | SPECIFIC GRANULE DEFICIENCY |
| 606711 | SPECIFIC LANGUAGE IMPAIRMENT 1 |
| 606712 | SPECIFIC LANGUAGE IMPAIRMENT 2 |
| 615432 | SPECIFIC LANGUAGE IMPAIRMENT 5 |
| 182810 | SPECTRIN, ALPHA, NONERYTHROCYTIC 1 |
| 182870 | SPECTRIN, BETA, ERYTHROCYTIC |
| 182875 | SPEECH DEVELOPMENT, DELAYED, WITH FACIAL ASYMMETRY, STRABISMUS, AND TRANSVERSE EARLOBE CREASE |
| 602081 | SPEECH-LANGUAGE DISORDER 1 |
| 609856 | SPERMATOGENESIS-ASSOCIATED PROTEIN 16 |
| 614822 | SPERMATOGENIC FAILURE 10 |
| 615081 | SPERMATOGENIC FAILURE 11 |
| 615413 | SPERMATOGENIC FAILURE 12 |
| 243060 | SPERMATOGENIC FAILURE 5 |
| 613957 | SPERMATOGENIC FAILURE 8 |
| 613958 | SPERMATOGENIC FAILURE 9 |
| 415000 | SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED |
| 182900 | SPHEROCYTOSIS, TYPE 1 |
| 270970 | SPHEROCYTOSIS, TYPE 3 |
| 612653 | SPHEROCYTOSIS, TYPE 4 |
| 612690 | SPHEROCYTOSIS, TYPE 5 |
| 313200 | SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1 |
| 182950 | SPINAL ARACHNOIDITIS |
| 601344 | SPINAL DYSPLASIA, ANHALT TYPE |
| 182990 | SPINAL INTRADURAL ARACHNOID CYSTS |
| 271109 | SPINAL MUSCULAR ATROPHY WITH MENTAL RETARDATION |
| 271110 | SPINAL MUSCULAR ATROPHY WITH MICROCEPHALY AND MENTAL SUBNORMALITY |
| 604320 | SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 |
| 605726 | SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2 |
| 607088 | SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 3 |
| 611067 | SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4 |
| 614881 | SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 |
| 600175 | SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE |
| 300489 | SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 |
| 182970 | SPINAL MUSCULAR ATROPHY, FACIOSCAPULOHUMERAL TYPE |
| 615048 | SPINAL MUSCULAR ATROPHY, JOKELA TYPE |
| 182980 | SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE |
| 158600 | SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL DOMINANT |
| 615290 | SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AUTOSOMAL DOMINANT |
| 271200 | SPINAL MUSCULAR ATROPHY, RYUKYUAN TYPE |
| 271220 | SPINAL MUSCULAR ATROPHY, SCAPULOPERONEAL |
| 183020 | SPINAL MUSCULAR ATROPHY, SEGMENTAL |
| 253300 | SPINAL MUSCULAR ATROPHY, TYPE I |
| 271225 | SPINAL MUSCULAR ATROPHY, TYPE I, WITH CONGENITAL BONE FRACTURES |
| 253550 | SPINAL MUSCULAR ATROPHY, TYPE II |
| 253400 | SPINAL MUSCULAR ATROPHY, TYPE III |
| 271150 | SPINAL MUSCULAR ATROPHY, TYPE IV |
| 301830 | SPINAL MUSCULAR ATROPHY, X-LINKED 2 |
| 164400 | SPINOCEREBELLAR ATAXIA 1 |
| 603516 | SPINOCEREBELLAR ATAXIA 10 |
| 604432 | SPINOCEREBELLAR ATAXIA 11 |
| 604326 | SPINOCEREBELLAR ATAXIA 12 |
| 605259 | SPINOCEREBELLAR ATAXIA 13 |
| 605361 | SPINOCEREBELLAR ATAXIA 14 |
| 606658 | SPINOCEREBELLAR ATAXIA 15 |
| 607136 | SPINOCEREBELLAR ATAXIA 17 |
| 607458 | SPINOCEREBELLAR ATAXIA 18 |
| 607346 | SPINOCEREBELLAR ATAXIA 19 |
| 183090 | SPINOCEREBELLAR ATAXIA 2 |
| 608687 | SPINOCEREBELLAR ATAXIA 20 |
| 607454 | SPINOCEREBELLAR ATAXIA 21 |
| 610245 | SPINOCEREBELLAR ATAXIA 23 |
| 608703 | SPINOCEREBELLAR ATAXIA 25 |
| 609306 | SPINOCEREBELLAR ATAXIA 26 |
| 609307 | SPINOCEREBELLAR ATAXIA 27 |
| 610246 | SPINOCEREBELLAR ATAXIA 28 |
| 117360 | SPINOCEREBELLAR ATAXIA 29 |
| 613371 | SPINOCEREBELLAR ATAXIA 30 |
| 117210 | SPINOCEREBELLAR ATAXIA 31 |
| 613909 | SPINOCEREBELLAR ATAXIA 32 |
| 613908 | SPINOCEREBELLAR ATAXIA 35 |
| 614153 | SPINOCEREBELLAR ATAXIA 36 |
| 600223 | SPINOCEREBELLAR ATAXIA 4 |
| 600224 | SPINOCEREBELLAR ATAXIA 5 |
| 183086 | SPINOCEREBELLAR ATAXIA 6 |
| 164500 | SPINOCEREBELLAR ATAXIA 7 |
| 608768 | SPINOCEREBELLAR ATAXIA 8 |
| 183000 | SPINOCEREBELLAR ATAXIA AND PLAQUE-LIKE DEPOSITS |
| 271270 | SPINOCEREBELLAR ATAXIA WITH DYSMORPHISM |
| 183050 | SPINOCEREBELLAR ATAXIA WITH RIGIDITY AND PERIPHERAL NEUROPATHY |
| 606002 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 |
| 613728 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 |
| 614229 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11 |
| 614322 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 |
| 614831 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 |
| 615386 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 |
| 615705 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 |
| 213200 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 |
| 271250 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3 |
| 607317 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 |
| 606937 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5 |
| 608029 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 6 |
| 609270 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 |
| 610743 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 |
| 607250 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY |
| 302500 | SPINOCEREBELLAR ATAXIA, X-LINKED 1 |
| 302600 | SPINOCEREBELLAR ATAXIA, X-LINKED 2 |
| 301790 | SPINOCEREBELLAR ATAXIA, X-LINKED 3 |
| 301840 | SPINOCEREBELLAR ATAXIA, X-LINKED 4 |
| 300703 | SPINOCEREBELLAR ATAXIA, X-LINKED 5 |
| 183100 | SPINOCEREBELLAR ATROPHY WITH PUPILLARY PARALYSIS |
| 271310 | SPINOCEREBELLAR DEGENERATION AND CORNEAL DYSTROPHY |
| 271320 | SPINOCEREBELLAR DEGENERATION WITH MACULAR CORNEAL DYSTROPHY, CONGENITAL CATARACTS, AND MYOPIA |
| 271322 | SPINOCEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS |
| 183300 | SPLENOGONADAL FUSION WITH LIMB DEFECTS AND MICROGNATHIA |
| 183350 | SPLENOMEGALY SYNDROME WITH SPLENIC GERMINAL CENTER HYPOPLASIA AND REDUCED CIRCULATING T-HELPER CELLS |
| 614979 | SPLENOMEGALY, CYTOPENIA, AND VISION LOSS |
| 271500 | SPLENOPORTAL VASCULAR ANOMALIES |
| 183400 | SPLIT LOWER LIP |
| 183700 | SPLIT-FOOT DEFORMITY WITH MANDIBULOFACIAL DYSOSTOSIS |
| 183500 | SPLIT-HAND AND SPLIT-FOOT WITH HYPODONTIA |
| 183800 | SPLIT-HAND WITH CONGENITAL NYSTAGMUS, FUNDAL CHANGES, AND CATARACTS |
| 183802 | SPLIT-HAND WITH OBSTRUCTIVE UROPATHY, SPINA BIFIDA, AND DIAPHRAGMATIC DEFECTS |
| 183600 | SPLIT-HAND/FOOT MALFORMATION 1 |
| 220600 | SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS |
| 313350 | SPLIT-HAND/FOOT MALFORMATION 2 |
| 600095 | SPLIT-HAND/FOOT MALFORMATION 3 |
| 605289 | SPLIT-HAND/FOOT MALFORMATION 4 |
| 225300 | SPLIT-HAND/FOOT MALFORMATION 6 |
| 119100 | SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1 |
| 613330 | SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA |
| 106300 | SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 |
| 183840 | SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 2 |
| 600000 | SPONDYLOCAMPTODACTYLY |
| 272460 | SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME |
| 612350 | SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE |
| 277300 | SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE |
| 608681 | SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE |
| 609813 | SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE |
| 613686 | SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE |
| 271520 | SPONDYLOCOSTAL DYSOSTOSIS WITH ANAL ATRESIA AND UROGENITAL ANOMALIES |
| 271550 | SPONDYLOENCHONDRODYSPLASIA |
| 607944 | SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION |
| 601668 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION |
| 183849 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS |
| 271640 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY |
| 603546 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 2 |
| 612813 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE |
| 610442 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE |
| 271650 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, IRAPA TYPE |
| 608728 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED |
| 601096 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MICROMELIC |
| 602111 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE |
| 602557 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE |
| 271510 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE |
| 184250 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE |
| 300106 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED |
| 300232 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH MENTAL DETERIORATION |
| 183900 | SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA |
| 600093 | SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH CHARACTERISTIC FACIES |
| 271620 | SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH MENTAL RETARDATION |
| 184100 | SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL DOMINANT |
| 271600 | SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE |
| 609223 | SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE, LEROY-SPRANGER TYPE |
| 313400 | SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED |
| 600561 | SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY |
| 602611 | SPONDYLOEPIPHYSEAL DYSPLASIA WITH CORONAL CRANIOSYNOSTOSIS, CATARACTS, CLEFT PALATE, AND MENTAL RETARDATION |
| 183850 | SPONDYLOEPIPHYSEAL DYSPLASIA WITH PUNCTATE CORNEAL DYSTROPHY |
| 608637 | SPONDYLOEPIPHYSEAL DYSPLASIA, CHST3-RELATED |
| 608361 | SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE |
| 184000 | SPONDYLOEPIPHYSEAL DYSPLASIA, MYOPIA, AND SENSORINEURAL DEAFNESS |
| 611717 | SPONDYLOEPIPHYSEAL DYSPLASIA-BRACHYDACTYLY AND DISTINCTIVE SPEECH |
| 184200 | SPONDYLOLISTHESIS |
| 609616 | SPONDYLOMEGAEPIPHYSEAL DYSPLASIA WITH UPPER LIMB MESOMELIA, PUNCTATE CALCIFICATIONS, AND DEAFNESS |
| 271665 | SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE |
| 607543 | SPONDYLOMETAPHYSEAL DYSPLASIA WITH BOWED FOREARMS AND FACIAL DYSMORPHISM |
| 608940 | SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY |
| 184260 | SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA |
| 184253 | SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE |
| 602271 | SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL |
| 184255 | SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE |
| 611702 | SPONDYLOMETAPHYSEAL DYSPLASIA, EAST AFRICAN TYPE |
| 184252 | SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE |
| 250220 | SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE |
| 609052 | SPONDYLOMETAPHYSEAL DYSPLASIA, TYPE A4 |
| 313420 | SPONDYLOMETAPHYSEAL DYSPLASIA, X-LINKED |
| 605822 | SPONDYLOOCULAR SYNDROME, AUTOSOMAL RECESSIVE |
| 271700 | SPONDYLOPERIPHERAL DYSPLASIA |
| 184300 | SPONDYLOSIS, CERVICAL |
| 601809 | SPONDYLOSPINAL THORACIC DYSOSTOSIS |
| 606688 | SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES |
| 184400 | SPRENGEL DEFORMITY |
| 275355 | SQUAMOUS CELL CARCINOMA, HEAD AND NECK |
| 606494 | ST3 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 3 |
| 184460 | STAPES ANKYLOSIS WITH BROAD THUMB AND TOES |
| 248200 | STARGARDT DISEASE 1 |
| 600110 | STARGARDT DISEASE 3 |
| 603786 | STARGARDT DISEASE 4 |
| 612948 | STARGARDT MACULAR DEGENERATION, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, MENTAL RETARDATION, AND DYSMORPHIC FEATURES |
| 184500 | STEATOCYSTOMA MULTIPLEX |
| 184510 | STEATOCYSTOMA MULTIPLEX WITH NATAL TEETH |
| 615155 | STEEL SYNDROME |
| 184705 | STEINFELD SYNDROME |
| 184800 | STERNUM, PREMATURE OBLITERATION OF SUTURES OF |
| 611961 | STEVENSON-CAREY SYNDROME |
| 108300 | STICKLER SYNDROME, TYPE I |
| 609508 | STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR |
| 604841 | STICKLER SYNDROME, TYPE II |
| 184840 | STICKLER SYNDROME, TYPE III |
| 614284 | STICKLER SYNDROME, TYPE V |
| 184900 | STIFF SKIN SYNDROME |
| 184850 | STIFF-PERSON SYNDROME |
| 300434 | STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME |
| 185010 | STOMATOCYTOSIS II |
| 185050 | STORAGE POOL PLATELET DISEASE |
| 185069 | STORM SYNDROME |
| 185070 | STORMORKEN SYNDROME |
| 185100 | STRABISMUS, SUSCEPTIBILITY TO |
| 185120 | STRATTON-PARKER SYNDROME |
| 185200 | STRIAE DISTENSAE, FAMILIAL |
| 609161 | STRIATAL DEGENERATION, AUTOSOMAL DOMINANT |
| 613710 | STRIATAL NECROSIS, BILATERAL, AND PROGRESSIVE POLYNEUROPATHY |
| 271930 | STRIATONIGRAL DEGENERATION, INFANTILE |
| 500003 | STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL |
| 601367 | STROKE, ISCHEMIC |
| 185300 | STURGE-WEBER SYNDROME |
| 184450 | STUTTERING, FAMILIAL PERSISTENT 1 |
| 601559 | STUVE-WIEDEMANN SYNDROME |
| 271950 | SUBAORTIC STENOSIS, MEMBRANOUS |
| 271960 | SUBAORTIC STENOSIS--SHORT STATURE SYNDROME |
| 600139 | SUBEPENDYMOMA |
| 600335 | SUCCINIC ACIDEMIA |
| 271980 | SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY |
| 245050 | SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY |
| 222900 | SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL |
| 272000 | SUCROSURIA, HIATUS HERNIA AND MENTAL RETARDATION |
| 272100 | SUDANOPHILIC CEREBRAL SCLEROSIS |
| 272120 | SUDDEN INFANT DEATH SYNDROME |
| 608800 | SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME |
| 272150 | SUGARMAN BRACHYDACTYLY |
| 185460 | SULFHEMOGLOBINEMIA, CONGENITAL |
| 272300 | SULFOCYSTEINURIA |
| 272350 | SUMMITT SYNDROME |
| 601708 | SUPERIOR TRANSVERSE SCAPULAR LIGAMENT, CALCIFICATION OF, FAMILIAL |
| 185480 | SUPRABULBAR PARESIS, CONGENITAL |
| 601104 | SUPRANUCLEAR PALSY, PROGRESSIVE, 1 |
| 609454 | SUPRANUCLEAR PALSY, PROGRESSIVE, 2 |
| 185500 | SUPRAVALVULAR AORTIC STENOSIS |
| 265120 | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1 |
| 610913 | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 |
| 610921 | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 |
| 300770 | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4 |
| 614370 | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5 |
| 178635 | SURFACTANT, PULMONARY-ASSOCIATED PROTEIN D |
| 272370 | SUSCEPTIBILITY TO LYSIS BY ALLOREACTIVE NATURAL KILLER CELLS |
| 108985 | SVEINSSON CHORIORETINAL ATROPHY |
| 185600 | SYMPHALANGISM OF TOES |
| 185750 | SYMPHALANGISM WITH MULTIPLE ANOMALIES OF HANDS AND FEET |
| 185650 | SYMPHALANGISM, C. S. LEWIS TYPE |
| 185700 | SYMPHALANGISM, DISTAL |
| 606895 | SYMPHALANGISM, DISTAL, WITH MICRODONTIA, DENTAL PULP STONES, AND NARROWED ZYGOMATIC ARCH |
| 185800 | SYMPHALANGISM, PROXIMAL |
| 609289 | SYNCOPE, FAMILIAL NEUROCARDIOGENIC |
| 609432 | SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION |
| 272440 | SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION |
| 186100 | SYNDACTYLY, TYPE III |
| 186200 | SYNDACTYLY, TYPE IV |
| 186300 | SYNDACTYLY, TYPE V |
| 186350 | SYNDACTYLY-POLYDACTYLY-EARLOBE SYNDROME |
| 272450 | SYNDESMODYSPLASIC DWARFISM |
| 186400 | SYNOSTOSES, TARSAL, CARPAL, AND DIGITAL |
| 186575 | SYNOVIAL CHONDROMATOSIS, FAMILIAL, WITH DWARFISM |
| 186000 | SYNPOLYDACTYLY 1 |
| 608180 | SYNPOLYDACTYLY 2 |
| 186600 | SYRINGOMAS, MULTIPLE |
| 186700 | SYRINGOMYELIA, ISOLATED |
| 152700 | SYSTEMIC LUPUS ERYTHEMATOSUS |
| 614420 | SYSTEMIC LUPUS ERYTHEMATOSUS 16 |
| 609939 | SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 6 |
| 601397 | T BRACHYURY, MOUSE, HOMOLOG OF |
| 187040 | T-CELL ACUTE LYMPHOCYTIC LEUKEMIA 1 |
| 601705 | T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY |
| 614868 | T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS |
| 186770 | T-CELL LEUKEMIA, HOMEOBOX 1 |
| 186960 | T-CELL LEUKEMIA/LYMPHOMA 1A |
| 186860 | T-CELL LEUKEMIA/LYMPHOMA 4 |
| 615387 | T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY |
| 276200 | T-SUBSTANCE ANOMALY |
| 207600 | TAKAYASU ARTERITIS |
| 609655 | TALO-PATELLO-SCAPHOID OSTEOLYSIS, SYNOVITIS, AND SHORT FOURTH METACARPALS |
| 186750 | TALONAVICULAR COALITION |
| 205400 | TANGIER DISEASE |
| 272600 | TAPETORETINAL DEGENERATION WITH ATAXIA |
| 272620 | TARDIVE DYSKINESIA |
| 311900 | TARP SYNDROME |
| 186850 | TARSAL FUSION |
| 186570 | TARSAL-CARPAL COALITION SYNDROME |
| 272650 | TATSUMI FACTOR DEFICIENCY |
| 272700 | TAURODONTISM |
| 313490 | TAURODONTISM, MICRODONTIA, AND DENS INVAGINATUS |
| 272800 | TAY-SACHS DISEASE |
| 613846 | TECTONIC FAMILY, MEMBER 2 |
| 272950 | TEEBI-SHALTOUT SYNDROME |
| 187050 | TEETH PRESENT AT BIRTH |
| 272980 | TEETH, CONGENITAL ABSENCE OF, WITH TAURODONTIA AND SPARSE HAIR |
| 273000 | TEETH, FUSED |
| 273050 | TEETH, NONERUPTION OF, WITH MAXILLARY HYPOPLASIA AND GENU VALGUM |
| 187000 | TEETH, ODD SHAPES OF |
| 187100 | TEETH, SUPERNUMERARY |
| 187260 | TELANGIECTASIA, HEREDITARY BENIGN |
| 187300 | TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER |
| 600376 | TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 |
| 610655 | TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 4 |
| 615506 | TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5 |
| 187350 | TELECANTHUS |
| 116950 | TEMPERATURE-SENSITIVE AF8 COMPLEMENT |
| 611816 | TEMPLE-BARAITSER SYNDROME |
| 187360 | TEMPORAL ARTERITIS |
| 605282 | TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME |
| 187390 | TENDONS, EXTENSOR, OF FINGERS, ANOMALOUS INSERTION OF |
| 611426 | TENTED EYEBROWS |
| 187395 | TERATOCARCINOMA-DERIVED GROWTH FACTOR 1 |
| 166950 | TERATOMA, OVARIAN |
| 273120 | TERATOMA, PINEAL |
| 300244 | TERMINAL OSSEOUS DYSPLASIA |
| 273150 | TESTES, RUDIMENTARY |
| 615542 | TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE |
| 273300 | TESTICULAR GERM CELL TUMOR |
| 300228 | TESTICULAR GERM CELL TUMOR 1 |
| 610441 | TESTICULAR MICROLITHIASIS |
| 273250 | TESTICULAR REGRESSION SYNDROME |
| 187400 | TESTICULAR TORSION |
| 273390 | TETRAAMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES |
| 273395 | TETRAAMELIA, AUTOSOMAL RECESSIVE |
| 187500 | TETRALOGY OF FALLOT |
| 187501 | TETRALOGY OF FALLOT AND GLAUCOMA |
| 273400 | TETRAMELIC DEFICIENCIES, ECTODERMAL DYSPLASIA, DEFORMED EARS, AND OTHER ABNORMALITIES |
| 187510 | TETRAMELIC MONODACTYLY |
| 614290 | TETRASOMY 18p |
| 608028 | THAI SYMPHALANGISM SYNDROME |
| 273490 | THALAMIC DEGENERATION, SYMMETRIC INFANTILE |
| 187550 | THALASSEMIA, BETA+, SILENT ALLELE |
| 273600 | THALIDOMIDE SUSCEPTIBILITY |
| 273680 | THANATOPHORIC DYSPLASIA, GLASGOW VARIANT |
| 187600 | THANATOPHORIC DYSPLASIA, TYPE I |
| 187601 | THANATOPHORIC DYSPLASIA, TYPE II |
| 187650 | THEOPHYLLINE BIOTRANSFORMATION |
| 614458 | THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) |
| 249270 | THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME |
| 610460 | THIOPURINE S-METHYLTRANSFERASE DEFICIENCY |
| 171200 | THIOUREA TASTING |
| 187750 | THORACIC DYSOSTOSIS, ISOLATED |
| 273730 | THORACIC DYSPLASIA-HYDROCEPHALUS SYNDROME |
| 313850 | THORACOABDOMINAL SYNDROME |
| 187760 | THORACOLARYNGOPELVIC DYSPLASIA |
| 273740 | THORACOMELIC DYSPLASIA |
| 187770 | THORACOPELVIC DYSOSTOSIS |
| 273750 | THREE M SYNDROME 1 |
| 612921 | THREE M SYNDROME 2 |
| 614205 | THREE M SYNDROME 3 |
| 273770 | THREONINEMIA |
| 187950 | THROMBOCYTHEMIA 1 |
| 601977 | THROMBOCYTHEMIA 2 |
| 614521 | THROMBOCYTHEMIA 3 |
| 300331 | THROMBOCYTHEMIA, X-LINKED |
| 313900 | THROMBOCYTOPENIA 1 |
| 188000 | THROMBOCYTOPENIA 2 |
| 273900 | THROMBOCYTOPENIA 3 |
| 612004 | THROMBOCYTOPENIA 4 |
| 314050 | THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED |
| 314000 | THROMBOCYTOPENIA WITH ELEVATED SERUM IgA AND RENAL DISEASE |
| 188020 | THROMBOCYTOPENIA, CYCLIC |
| 188025 | THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE |
| 188030 | THROMBOCYTOPENIC PURPURA, AUTOIMMUNE |
| 188050 | THROMBOPHILIA |
| 188055 | THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE |
| 613116 | THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY |
| 176860 | THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT |
| 612304 | THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE |
| 612336 | THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT |
| 614514 | THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE |
| 612348 | THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR |
| 300807 | THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT |
| 274150 | THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL |
| 274190 | THUMB AGENESIS, SHORT STATURE, AND IMMUNODEFICIENCY |
| 188100 | THUMB DEFORMITY |
| 188150 | THUMB DEFORMITY AND ALOPECIA |
| 274200 | THUMB, DISTAL HYPEREXTENSIBILITY OF |
| 274205 | THUMB, HYPOPLASTIC, WITH CHOROID COLOBOMA, POORLY DEVELOPED ANTIHELIX, AND DEAFNESS |
| 314100 | THUMBS, CONGENITAL CLASPED |
| 188201 | THUMBS, STIFF, WITH BRACHYDACTYLY TYPE A1 AND DEVELOPMENTAL DELAY |
| 274210 | THYMIC APLASIA WITH FETAL DEATH |
| 274265 | THYMIC-RENAL-ANAL-LUNG DYSPLASIA |
| 274230 | THYMOMA, FAMILIAL |
| 274240 | THYROCEREBRORETINAL SYNDROME |
| 188455 | THYROGLOSSAL DUCT CYST, FAMILIAL |
| 155240 | THYROID CARCINOMA, FAMILIAL MEDULLARY |
| 188470 | THYROID CARCINOMA, FOLLICULAR |
| 188550 | THYROID CARCINOMA, PAPILLARY |
| 274400 | THYROID DYSHORMONOGENESIS 1 |
| 274500 | THYROID DYSHORMONOGENESIS 2A |
| 274700 | THYROID DYSHORMONOGENESIS 3 |
| 274800 | THYROID DYSHORMONOGENESIS 4 |
| 274900 | THYROID DYSHORMONOGENESIS 5 |
| 607200 | THYROID DYSHORMONOGENESIS 6 |
| 609698 | THYROID HORMONE METABOLISM, ABNORMAL |
| 188560 | THYROID HORMONE PLASMA MEMBRANE TRANSPORT DEFECT |
| 188570 | THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT |
| 274300 | THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE |
| 145650 | THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY |
| 188580 | THYROTOXIC PERIODIC PARALYSIS |
| 613239 | THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2 |
| 188600 | THYROXINE-BINDING GLOBULIN OF SERUM |
| 314200 | THYROXINE-BINDING GLOBULIN OF SERUM |
| 188700 | TIBIA VARA |
| 275230 | TIBIA, ABSENCE OF, WITH CONGENITAL DEAFNESS |
| 188740 | TIBIA, ABSENCE OF, WITH POLYDACTYLY |
| 601027 | TIBIA, ABSENCE OR HYPOPLASIA OF, WITH POLYDACTYLY, RETROCEREBELLAR ARACHNOID CYST, AND OTHER ANOMALIES |
| 188770 | TIBIA, HYPOPLASIA OF, WITH POLYDACTYLY |
| 275220 | TIBIAL HEMIMELIA |
| 600334 | TIBIAL MUSCULAR DYSTROPHY, TARDIVE |
| 188800 | TIBIAL TORSION, BILATERAL MEDIAL |
| 103500 | TIETZ SYNDROME |
| 275190 | TIGLIC ACIDEMIA |
| 601005 | TIMOTHY SYNDROME |
| 275240 | TINEA IMBRICATA, SUSCEPTIBILITY TO |
| 300622 | TN POLYAGGLUTINATION SYNDROME |
| 300707 | TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS |
| 189000 | TOE, FIFTH, NUMBER OF PHALANGES IN |
| 189100 | TOE, MISSHAPEN |
| 189150 | TOE, ROTATED FIFTH |
| 189200 | TOES, RELATIVE LENGTH OF FIRST AND SECOND |
| 189230 | TOES, SPACE BETWEEN FIRST AND SECOND |
| 189300 | TONGUE CURLING, FOLDING, OR ROLLING |
| 275250 | TONGUE, PIGMENTED FUNGIFORM PAPILLAE OF |
| 106600 | TOOTH AGENESIS, SELECTIVE, 1 |
| 604625 | TOOTH AGENESIS, SELECTIVE, 3 |
| 150400 | TOOTH AGENESIS, SELECTIVE, 4 |
| 613097 | TOOTH AGENESIS, SELECTIVE, 6 |
| 313500 | TOOTH AGENESIS, SELECTIVE, X-LINKED, 1 |
| 314240 | TOOTH SIZE |
| 602554 | TORSION DYSTONIA WITH ONSET IN INFANCY |
| 189600 | TORTICOLLIS |
| 314300 | TORTICOLLIS, KELOIDS, CRYPTORCHIDISM, AND RENAL DYSPLASIA |
| 189700 | TORUS PALATINUS AND TORUS MANDIBULARIS |
| 106700 | TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1 |
| 107480 | TOWNES-BROCKS SYNDROME |
| 275300 | TRACHEOBRONCHOMEGALY |
| 189960 | TRACHEOESOPHAGEAL FISTULA WITH OR WITHOUT ESOPHAGEAL ATRESIA |
| 189961 | TRACHEOPATHIA OSTEOPLASTICA |
| 606003 | TRANSALDOLASE DEFICIENCY |
| 193090 | TRANSCOBALAMIN I DEFICIENCY |
| 613441 | TRANSCOBALAMIN II |
| 275350 | TRANSCOBALAMIN II DEFICIENCY |
| 613900 | TRANSGLUTAMINASE 6 |
| 131705 | TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN |
| 227050 | TRANSIENT ERYTHROBLASTOPENIA OF CHILDHOOD |
| 608808 | TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1 |
| 613853 | TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 2 |
| 613854 | TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 3 |
| 600952 | TRANSSEXUALITY |
| 154500 | TREACHER COLLINS SYNDROME 1 |
| 613717 | TREACHER COLLINS SYNDROME 2 |
| 612119 | TREHALASE DEFICIENCY |
| 190200 | TREMOR OF INTENTION, ATAXIA, AND LIPOFUSCINOSIS |
| 190300 | TREMOR, HEREDITARY ESSENTIAL, 1 |
| 602134 | TREMOR, HEREDITARY ESSENTIAL, 2 |
| 614782 | TREMOR, HEREDITARY ESSENTIAL, 4 |
| 611808 | TREMOR, HEREDITARY ESSENTIAL, AND IDIOPATHIC NORMAL PRESSURE HYDROCEPHALUS |
| 190310 | TREMOR, NYSTAGMUS, AND DUODENAL ULCER |
| 275370 | TRICARBOXYLIC ACID CYCLE, DEFECT OF |
| 609649 | TRICHILEMMAL CYST 1 |
| 601453 | TRICHODENTAL DYSPLASIA |
| 190320 | TRICHODENTOOSSEOUS SYNDROME |
| 190360 | TRICHODYSPLASIA-XERODERMA |
| 601606 | TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1 |
| 190345 | TRICHOEPITHELIOMAS, MULTIPLE DESMOPLASTIC |
| 222470 | TRICHOHEPATOENTERIC SYNDROME |
| 614602 | TRICHOHEPATOENTERIC SYNDROME 2 |
| 190330 | TRICHOMEGALY |
| 275400 | TRICHOMEGALY WITH MENTAL RETARDATION, DWARFISM, AND PIGMENTARY DEGENERATION OF RETINA |
| 275450 | TRICHOODONTOONYCHIAL DYSPLASIA |
| 190350 | TRICHORHINOPHALANGEAL SYNDROME, TYPE I |
| 150230 | TRICHORHINOPHALANGEAL SYNDROME, TYPE II |
| 190351 | TRICHORHINOPHALANGEAL SYNDROME, TYPE III |
| 275550 | TRICHORRHEXIS NODOSA SYNDROME |
| 234050 | TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1 |
| 601675 | TRICHOTHIODYSTROPHY, PHOTOSENSITIVE |
| 613229 | TRICHOTILLOMANIA |
| 609015 | TRIFUNCTIONAL PROTEIN DEFICIENCY |
| 190400 | TRIGEMINAL NEURALGIA |
| 190410 | TRIGGER THUMB |
| 605086 | TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS 2 |
| 190420 | TRIGLYCERIDE STORAGE DISEASE, TYPE I |
| 190430 | TRIGLYCERIDE STORAGE DISEASE, TYPE II |
| 275595 | TRIGONOBRACHYCEPHALY, BULBOUS BIFID NOSE, MICROGNATHIA, AND ABNORMALITIES OF THE HANDS AND FEET |
| 190440 | TRIGONOCEPHALY 1 |
| 614485 | TRIGONOCEPHALY 2 |
| 314320 | TRIGONOCEPHALY WITH SHORT STATURE AND DEVELOPMENTAL DELAY |
| 602079 | TRIMETHYLAMINURIA |
| 615512 | TRIOSEPHOSPHATE ISOMERASE DEFICIENCY |
| 190500 | TRIPHALANGEAL THUMB WITH DOUBLE PHALANGES |
| 190600 | TRIPHALANGEAL THUMB, NONOPPOSABLE |
| 190650 | TRIPHALANGEAL THUMBS AND DISLOCATION OF PATELLA |
| 190680 | TRIPHALANGEAL THUMBS WITH BRACHYECTRODACTYLY |
| 601161 | TRISOMY 18-LIKE SYNDROME |
| 190800 | TRISTICHIASIS |
| 191000 | TROCHLEA OF THE HUMERUS, APLASIA OF |
| 608189 | TROPICAL CALCIFIC PANCREATITIS |
| 614044 | TRYPSINOGEN DEFICIENCY |
| 276100 | TRYPTOPHANURIA WITH DWARFISM |
| 191100 | TUBEROUS SCLEROSIS |
| 613254 | TUBEROUS SCLEROSIS 2 |
| 607665 | TUBULOINTERSTITIAL NEPHRITIS WITH UVEITIS |
| 191150 | TUFTSIN DEFICIENCY |
| 609428 | TUKEL SYNDROME |
| 191160 | TUMOR NECROSIS FACTOR |
| 614327 | TUMOR PREDISPOSITION SYNDROME |
| 191170 | TUMOR PROTEIN p53 |
| 211900 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL |
| 610455 | TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL |
| 191200 | TUNE DEAFNESS |
| 191250 | TWINNING DUE TO SUPERFETATION |
| 148500 | TYLOSIS WITH ESOPHAGEAL CANCER |
| 276700 | TYROSINEMIA, TYPE I |
| 276600 | TYROSINEMIA, TYPE II |
| 276710 | TYROSINEMIA, TYPE III |
| 276800 | TYROSINOSIS |
| 615102 | TYSHCHENKO SYNDROME |
| 615133 | UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE-LIKE 5 |
| 254090 | ULLRICH CONGENITAL MUSCULAR DYSTROPHY |
| 276820 | ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY |
| 191400 | ULNA AND FIBULA, HYPOPLASIA OF |
| 191420 | ULNA METAPHYSEAL DYSPLASIA SYNDROME |
| 276822 | ULNAR AGENESIS AND ENDOCARDIAL FIBROELASTOSIS |
| 191440 | ULNAR HYPOPLASIA |
| 314360 | ULNAR HYPOPLASIA WITH LOBSTER-CLAW DEFORMITY OF FEET |
| 276821 | ULNAR HYPOPLASIA WITH MENTAL RETARDATION |
| 181450 | ULNAR-MAMMARY SYNDROME |
| 608571 | ULNAR/FIBULAR RAY DEFECT AND BRACHYDACTYLY |
| 191480 | UNCOMBABLE HAIR SYNDROME |
| 191482 | UNCOMBABLE HAIR, RETINAL PIGMENTARY DYSTROPHY, DENTAL ANOMALIES, AND BRACHYDACTYLY |
| 191500 | UNDRITZ ANOMALY |
| 608149 | UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 |
| 314380 | UNIQUE GREEN PHENOMENON |
| 191520 | UPINGTON DISEASE |
| 191540 | URATE OXIDASE |
| 191530 | URATE-BINDING GLOBULIN, DECREASE IN |
| 191550 | URETER, BIFID OR DOUBLE |
| 191600 | URETER, CANCER OF |
| 191650 | URETEROCELE |
| 138900 | URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1 |
| 612671 | URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 3 |
| 266120 | URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO |
| 191800 | URINARY BLADDER, ATONY OF |
| 276880 | UROCANASE DEFICIENCY |
| 236730 | UROFACIAL SYNDROME |
| 615112 | UROFACIAL SYNDROME 2 |
| 191700 | UROLITHIASIS, URIC ACID, AUTOSOMAL DOMINANT |
| 613521 | UROPORPHYRINOGEN DECARBOXYLASE |
| 191850 | URTICARIA, AQUAGENIC |
| 191950 | URTICARIA, FAMILIAL LOCALIZED HEAT |
| 300280 | URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME |
| 276900 | USHER SYNDROME, TYPE I |
| 276904 | USHER SYNDROME, TYPE IC |
| 601067 | USHER SYNDROME, TYPE ID |
| 602097 | USHER SYNDROME, TYPE IE |
| 602083 | USHER SYNDROME, TYPE IF |
| 606943 | USHER SYNDROME, TYPE IG |
| 276901 | USHER SYNDROME, TYPE IIA |
| 605472 | USHER SYNDROME, TYPE IIC |
| 611383 | USHER SYNDROME, TYPE IID |
| 276902 | USHER SYNDROME, TYPE III |
| 614504 | USHER SYNDROME, TYPE IIIB |
| 614869 | USHER SYNDROME, TYPE IJ |
| 614990 | USHER SYNDROME, TYPE IK |
| 192000 | UTERINE ANOMALIES |
| 192050 | UTERUS BICORNIS BICOLLIS WITH PARTIAL VAGINAL SEPTUM AND UNILATERAL HEMATOCOLPOS WITH IPSILATERAL RENAL AGENESIS |
| 600630 | UV-SENSITIVE SYNDROME |
| 614621 | UV-SENSITIVE SYNDROME 2 |
| 614640 | UV-SENSITIVE SYNDROME 3 |
| 192100 | UVULA, BIFID |
| 164690 | V-ABL ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 2 |
| 164870 | V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 2 |
| 190070 | V-KI-RAS2 KIRSTEN RAT SARCOMA VIRAL ONCOGENE HOMOLOG |
| 189990 | V-MYB AVIAN MYELOBLASTOSIS VIRAL ONCOGENE HOMOLOG |
| 190080 | V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG |
| 164850 | V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG 1, LUNG CARCINOMA-DERIVED |
| 164840 | V-MYC AVIAN MYELOCYTOMATOSIS VIRAL-RELATED ONCOGENE, NEUROBLASTOMA-DERIVED |
| 311010 | V-RAF MURINE SARCOMA 3611 VIRAL ONCOGENE HOMOLOG 1 |
| 164757 | V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1 |
| 276950 | VACTERL ASSOCIATION WITH HYDROCEPHALUS |
| 314390 | VACTERL ASSOCIATION WITH HYDROCEPHALUS, X-LINKED |
| 601846 | VACUOLAR NEUROMYOPATHY |
| 277100 | VALINEMIA |
| 601023 | VALOSIN-CONTAINING PROTEIN |
| 609442 | VALPROATE EMBRYOPATHY, SUSCEPTIBILITY TO |
| 277150 | VAN BOGAERT-HOZAY SYNDROME |
| 607636 | VAN BUCHEM DISEASE, TYPE 2 |
| 314500 | VAN DEN BOSCH SYNDROME |
| 600920 | VAN DEN ENDE-GUPTA SYNDROME |
| 119300 | VAN DER WOUDE SYNDROME 1 |
| 606713 | VAN DER WOUDE SYNDROME 2 |
| 615546 | VAN MALDERGEM SYNDROME 2 |
| 610132 | VANG-LIKE 1 |
| 600533 | VANG-LIKE 2 |
| 600670 | VARICELLA, SEVERE RECURRENT |
| 192200 | VARICOSE VEINS |
| 277180 | VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF |
| 277175 | VASCULAR HYALINOSIS |
| 192310 | VASCULITIS, LYMPHOCYTIC, NODULAR |
| 192315 | VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY |
| 192350 | VATER ASSOCIATION |
| 608406 | VATER-LIKE DEFECTS WITH PULMONARY HYPERTENSION, LARYNGEAL WEBS, AND GROWTH DEFICIENCY |
| 192430 | VELOCARDIOFACIAL SYNDROME |
| 600736 | VELOFACIOSKELETAL SYNDROME |
| 600195 | VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL |
| 192445 | VENTRICULAR EXTRASYSTOLES WITH SYNCOPE, PERODACTYLY, AND ROBIN SEQUENCE |
| 603829 | VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL |
| 612956 | VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2 |
| 614429 | VENTRICULAR SEPTAL DEFECT 1 |
| 614431 | VENTRICULAR SEPTAL DEFECT 2 |
| 614432 | VENTRICULAR SEPTAL DEFECT 3 |
| 604772 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 |
| 611938 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2 |
| 614021 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3 |
| 614916 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 |
| 615441 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS |
| 192605 | VENTRICULAR TACHYCARDIA, FAMILIAL |
| 602200 | VENTRICULOMEGALY WITH DEFECTS OF THE RADIUS AND KIDNEY |
| 192700 | VENULAR INSUFFICIENCY, SYSTEMIC |
| 615583 | VERHEIJ SYNDROME |
| 192800 | VERTEBRAL FUSION, POSTERIOR LUMBOSACRAL, WITH BLEPHAROPTOSIS |
| 192900 | VERTEBRAL HYPOPLASIA WITH LUMBAR KYPHOSIS |
| 192950 | VERTICAL TALUS, CONGENITAL |
| 193007 | VERTIGO, BENIGN RECURRENT |
| 193000 | VESICOURETERAL REFLUX 1 |
| 610878 | VESICOURETERAL REFLUX 2 |
| 613674 | VESICOURETERAL REFLUX 3 |
| 314550 | VESICOURETERAL REFLUX, X-LINKED |
| 193005 | VESTIBULOCOCHLEAR DYSFUNCTION, PROGRESSIVE |
| 608537 | VHL GENE |
| 193050 | VIBRATORY ANGIOEDEMA |
| 277320 | VISCERAL MYOPATHY, FAMILIAL, WITH EXTERNAL OPHTHALMOPLEGIA |
| 243180 | VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE |
| 264700 | VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A |
| 600081 | VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B |
| 277440 | VITAMIN D-DEPENDENT RICKETS, TYPE 2A |
| 600785 | VITAMIN D-DEPENDENT RICKETS, TYPE 2B, WITH NORMAL VITAMIN D RECEPTOR |
| 277460 | VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF |
| 277450 | VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 |
| 607473 | VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 |
| 193200 | VITILIGO |
| 277465 | VITILIGO, PROGRESSIVE, WITH MENTAL RETARDATION AND URETHRAL DUPLICATION |
| 606579 | VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 |
| 193230 | VITREORETINAL DEGENERATION, SNOWFLAKE TYPE |
| 193220 | VITREORETINOCHOROIDOPATHY |
| 193235 | VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY |
| 193240 | VOCAL CORD PARALYSIS AND PTOSIS |
| 604117 | VOHWINKEL SYNDROME, VARIANT FORM |
| 193250 | VOLVULUS OF MIDGUT |
| 193300 | VON HIPPEL-LINDAU SYNDROME |
| 277480 | VON WILLEBRAND DISEASE, RECESSIVE FORM |
| 193400 | VON WILLEBRAND DISEASE, TYPE 1 |
| 613554 | VON WILLEBRAND DISEASE, TYPE 2 |
| 314560 | VON WILLEBRAND DISEASE, X-LINKED FORM |
| 193450 | VULVOVAGINITIS, ALLERGIC SEMINAL |
| 193500 | WAARDENBURG SYNDROME, TYPE 1 |
| 193510 | WAARDENBURG SYNDROME, TYPE 2A |
| 600193 | WAARDENBURG SYNDROME, TYPE 2B |
| 608890 | WAARDENBURG SYNDROME, TYPE 2D |
| 611584 | WAARDENBURG SYNDROME, TYPE 2E |
| 148820 | WAARDENBURG SYNDROME, TYPE 3 |
| 277580 | WAARDENBURG SYNDROME, TYPE 4A |
| 613265 | WAARDENBURG SYNDROME, TYPE 4B |
| 613266 | WAARDENBURG SYNDROME, TYPE 4C |
| 143200 | WAGNER SYNDROME 1 |
| 615170 | WAHAB SYNDROME |
| 600118 | WARBURG MICRO SYNDROME |
| 614225 | WARBURG MICRO SYNDROME 2 |
| 614222 | WARBURG MICRO SYNDROME 3 |
| 615663 | WARBURG MICRO SYNDROME 4 |
| 613398 | WARSAW BREAKAGE SYNDROME |
| 193520 | WATSON SYNDROME |
| 277590 | WEAVER SYNDROME |
| 614421 | WEAVER SYNDROME 2 |
| 608710 | WEGENER GRANULOMATOSIS |
| 277600 | WEILL-MARCHESANI SYNDROME 1 |
| 608328 | WEILL-MARCHESANI SYNDROME 2 |
| 614819 | WEILL-MARCHESANI SYNDROME 3 |
| 613195 | WEILL-MARCHESANI-LIKE SYNDROME |
| 277610 | WEISSENBACHER-ZWEYMULLER SYNDROME |
| 604454 | WELANDER DISTAL MYOPATHY |
| 277700 | WERNER SYNDROME |
| 277730 | WERNICKE-KORSAKOFF SYNDROME |
| 193530 | WEYERS ACROFACIAL DYSOSTOSIS |
| 602418 | WEYERS ULNAR RAY/OLIGODACTYLY SYNDROME |
| 193670 | WHIM SYNDROME |
| 193680 | WHISPERING DYSPHONIA, HEREDITARY |
| 277720 | WHISTLING FACE SYNDROME, RECESSIVE FORM |
| 277740 | WHITE FORELOCK WITH MALFORMATIONS |
| 193900 | WHITE SPONGE NEVUS |
| 194000 | WIDOW'S PEAK |
| 314570 | WIDOW'S PEAK SYNDROME |
| 314580 | WIEACKER SYNDROME |
| 314600 | WILDERVANCK SYNDROME |
| 194050 | WILLIAMS-BEUREN SYNDROME |
| 194070 | WILMS TUMOR 1 |
| 194071 | WILMS TUMOR 2 |
| 194090 | WILMS TUMOR 3 |
| 601363 | WILMS TUMOR 4 |
| 601583 | WILMS TUMOR 5 |
| 194072 | WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME |
| 277900 | WILSON DISEASE |
| 309585 | WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME |
| 277950 | WINCHESTER SYNDROME |
| 606268 | WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 10A |
| 604663 | WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 6 |
| 277970 | WISKOTT-ALDRICH SYNDROME |
| 301000 | WISKOTT-ALDRICH SYNDROME |
| 614493 | WISKOTT-ALDRICH SYNDROME 2 |
| 600903 | WISKOTT-ALDRICH SYNDROME, AUTOSOMAL DOMINANT FORM |
| 189500 | WITKOP SYNDROME |
| 300421 | WITTWER SYNDROME |
| 194190 | WOLF-HIRSCHHORN SYNDROME |
| 277990 | WOLFF MENTAL RETARDATION SYNDROME |
| 194200 | WOLFF-PARKINSON-WHITE SYNDROME |
| 222300 | WOLFRAM SYNDROME 1 |
| 604928 | WOLFRAM SYNDROME 2 |
| 598500 | WOLFRAM SYNDROME, MITOCHONDRIAL FORM |
| 614296 | WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT |
| 278100 | WOLMAN DISEASE WITH HYPOLIPOPROTEINEMIA AND ACANTHOCYTOSIS |
| 615236 | WOODS SYNDROME |
| 194300 | WOOLLY HAIR, AUTOSOMAL DOMINANT |
| 278200 | WOOLLY HAIR, HYPOTRICHOSIS, EVERTED LOWER LIP, AND OUTSTANDING EARS |
| 194320 | WORONETS TRAIT |
| 278250 | WRINKLY SKIN SYNDROME |
| 194350 | WT LIMB-BLOOD SYNDROME |
| 300087 | X INACTIVATION, FAMILIAL SKEWED, 1 |
| 278300 | XANTHINURIA, TYPE I |
| 602247 | XANTHOMATOSIS, SUSCEPTIBILITY TO |
| 194400 | XERODERMA PIGMENTOSUM, AUTOSOMAL DOMINANT, MILD |
| 610651 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B |
| 278720 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C |
| 278730 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D |
| 278740 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E |
| 278760 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F |
| 278780 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G |
| 278750 | XERODERMA PIGMENTOSUM, VARIANT TYPE |
| 610965 | XFE PROGEROID SYNDROME |
| 489500 | XG REGULATOR |
| 314900 | XM SYSTEM |
| 278900 | XYLOSIDASE DEFICIENCY |
| 153300 | YELLOW NAIL SYNDROME |
| 601706 | YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME |
| 279000 | YOUNG SYNDROME |
| 612916 | ZECHI-CEIDE SYNDROME |
| 135500 | ZIMMERMANN-LABAND SYNDROME |
| 608118 | ZINC DEFICIENCY, TRANSIENT NEONATAL |
| 194533 | ZINC FINGER PROTEIN 35 |
| 314980 | ZINC FINGER PROTEIN, X-LINKED |
| 490000 | ZINC FINGER PROTEIN, Y-LINKED |
| 194470 | ZINC, ELEVATED PLASMA |
| 315000 | ZONULAR CATARACT AND NYSTAGMUS |
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