Category:Genetic disorders
Complete List in Alphabetical Order
| 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 |
Subcategories
This category has the following 10 subcategories, out of 10 total.
Pages in category "Genetic disorders"
The following 200 pages are in this category, out of 1,743 total.
(previous page) (next page)1
- 11β-hydroxylase deficiency historical perspective
- 11β-hydroxylase deficiency overview
- 13q deletion syndrome
- 17 alpha-hydroxylase deficiency epidemiology and demographics
- 17 alpha-hydroxylase deficiency laboratory findings
- 17-beta-hydroxysteroid dehydrogenase deficiency
- 17-beta-hydroxysteroid dehydrogenase deficiency (patient information)
- 17-beta-hydroxysteroid dehydrogenase deficiency case study one
- 17-beta-hydroxysteroid dehydrogenase deficiency causes
- 17-beta-hydroxysteroid dehydrogenase deficiency classification
- 17-beta-hydroxysteroid dehydrogenase deficiency cost-effectiveness of therapy
- 17-beta-hydroxysteroid dehydrogenase deficiency CT
- 17-beta-hydroxysteroid dehydrogenase deficiency differential diagnosis
- 17-beta-hydroxysteroid dehydrogenase deficiency epidemiology and demographics
- 17-beta-hydroxysteroid dehydrogenase deficiency future or investigational therapies
- 17-beta-hydroxysteroid dehydrogenase deficiency genotyping
- 17-beta-hydroxysteroid dehydrogenase deficiency historical perspective
- 17-beta-hydroxysteroid dehydrogenase deficiency history and symptoms
- 17-beta-hydroxysteroid dehydrogenase deficiency laboratory findings
- 17-beta-hydroxysteroid dehydrogenase deficiency medical therapy
- 17-beta-hydroxysteroid dehydrogenase deficiency molecular genetic studies
- 17-beta-hydroxysteroid dehydrogenase deficiency natural history, complications and prognosis
- 17-beta-hydroxysteroid dehydrogenase deficiency other diagnostic studies
- 17-beta-hydroxysteroid dehydrogenase deficiency other imaging findings
- 17-beta-hydroxysteroid dehydrogenase deficiency overview
- 17-beta-hydroxysteroid dehydrogenase deficiency pathophysiology
- 17-beta-hydroxysteroid dehydrogenase deficiency pelvic x ray
- 17-beta-hydroxysteroid dehydrogenase deficiency physical examination
- 17-beta-hydroxysteroid dehydrogenase deficiency primary prevention
- 17-beta-hydroxysteroid dehydrogenase deficiency risk factors
- 17-beta-hydroxysteroid dehydrogenase deficiency screening
- 17-beta-hydroxysteroid dehydrogenase deficiency secondary prevention
- 17-beta-hydroxysteroid dehydrogenase deficiency surgical therapy
- 17-beta-hydroxysteroid dehydrogenase deficiency ultrasound
- 17-beta-hydroxysteroid dehydrogenase deficiency x ray
- 1p36 deletion syndrome
2
- 2,8 dihydroxy-adenine urolithiasis
- 2-Hydroxyglutaric aciduria
- 2-Hydroxyglutaricaciduria
- 2-Methylbutyryl-CoA dehydrogenase deficiency
- 21-hydroxylase deficiency
- 21-hydroxylase deficiency (patient information)
- 21-Hydroxylase Deficiency (patient information)
- 21-Hydroxylase Deficiency case study one
- 21-Hydroxylase Deficiency causes
- 21-hydroxylase deficiency causes
- 21-Hydroxylase Deficiency classification
- 21-hydroxylase deficiency classification
- 21-Hydroxylase Deficiency cost-effectiveness of therapy
- 21-Hydroxylase Deficiency CT
- 21-hydroxylase deficiency CT
- 21-Hydroxylase Deficiency differential diagnosis
- 21-hydroxylase deficiency differential diagnosis
- 21-hydroxylase deficiency electrocardiogram
- 21-Hydroxylase Deficiency epidemiology and demographics
- 21-hydroxylase deficiency epidemiology and demographics
- 21-Hydroxylase Deficiency future or investigational therapies
- 21-Hydroxylase Deficiency genotyping
- 21-Hydroxylase Deficiency historical perspective
- 21-hydroxylase deficiency historical perspective
- 21-Hydroxylase Deficiency history and symptoms
- 21-hydroxylase deficiency history and symptoms
- 21-Hydroxylase Deficiency laboratory findings
- 21-hydroxylase deficiency laboratory findings
- 21-Hydroxylase Deficiency medical therapy
- 21-hydroxylase deficiency medical therapy
- 21-Hydroxylase Deficiency molecular genetic studies
- 21-hydroxylase deficiency MRI
- 21-Hydroxylase Deficiency natural history, complications and prognosis
- 21-hydroxylase deficiency natural history, complications and prognosis
- 21-Hydroxylase Deficiency other diagnostic studies
- 21-hydroxylase deficiency other diagnostic studies
- 21-Hydroxylase Deficiency other imaging findings
- 21-hydroxylase deficiency other imaging findings
- 21-Hydroxylase Deficiency overview
- 21-hydroxylase deficiency overview
- 21-Hydroxylase Deficiency pathophysiology
- 21-hydroxylase deficiency pathophysiology
- 21-Hydroxylase Deficiency pelvic x ray
- 21-Hydroxylase Deficiency physical examination
- 21-hydroxylase deficiency physical examination
- 21-Hydroxylase Deficiency primary prevention
- 21-hydroxylase deficiency primary prevention
- 21-Hydroxylase Deficiency risk factors
- 21-hydroxylase deficiency risk factors
- 21-Hydroxylase Deficiency screening
- 21-hydroxylase deficiency screening
- 21-Hydroxylase Deficiency secondary prevention
- 21-hydroxylase deficiency secondary prevention
- 21-Hydroxylase Deficiency social issues
- 21-Hydroxylase Deficiency surgery
- 21-hydroxylase deficiency surgery
- 21-Hydroxylase Deficiency ultrasound
- 21-hydroxylase deficiency ultrasound
- 21-hydroxylase deficiency x ray
- 22q13 deletion syndrome
3
5
- 5-alpha-reductase deficiency case study one
- 5-alpha-reductase deficiency causes
- 5-alpha-reductase deficiency classification
- 5-alpha-reductase deficiency cost-effectiveness of therapy
- 5-alpha-reductase deficiency CT
- 5-alpha-reductase deficiency differential diagnosis
- 5-alpha-reductase deficiency electrocardiogram
- 5-alpha-reductase deficiency epidemiology and demographics
- 5-alpha-reductase deficiency future or investigational therapies
- 5-alpha-reductase deficiency genotyping
- 5-alpha-reductase deficiency historical perspective
- 5-alpha-reductase deficiency history and symptoms
- 5-alpha-reductase deficiency laboratory findings
- 5-alpha-reductase deficiency medical therapy
- 5-alpha-reductase deficiency molecular genetic studies
- 5-alpha-reductase deficiency natural history, complications and prognosis
- 5-alpha-reductase deficiency other diagnostic studies
- 5-alpha-reductase deficiency other imaging findings
- 5-alpha-reductase deficiency overview
- 5-alpha-reductase deficiency pathophysiology
- 5-alpha-reductase deficiency pelvic x ray
- 5-alpha-reductase deficiency physical examination
- 5-alpha-reductase deficiency primary prevention
- 5-alpha-reductase deficiency risk factors
- 5-alpha-reductase deficiency screening
- 5-alpha-reductase deficiency secondary prevention
- 5-alpha-reductase deficiency surgery
- 5-alpha-reductase deficiency ultrasound
A
- Aarskog-Scott syndrome
- Aarskog-Scott syndrome (patient information)
- Aase syndrome
- ABCD syndrome
- Abdallat Davis Farrage syndrome
- Abderhalden-Kaufmann-Lignac syndrome
- Abderhalden-Kaufmann-Lignac syndrome historical perspective
- Abderhalden-Kaufmann-Lignac syndrome history and symptoms
- Abderhalden-Kaufmann-Lignac syndrome overview
- Ablepharon macrostomia syndrome
- Absent radius
- Acatalasemia
- Aceruloplasminemia
- Acheiropodia
- Achondroplasia
- Achondroplasia (patient information)
- Acrocallosal syndrome
- Acrodermatitis enteropathica
- Acrofacial dysostosis
- Acromegaly case study one
- Acromegaly cost-effectiveness of therapy
- Acromegaly future or investigational therapies
- Acute intermittant porphyria
- Adducted thumb syndrome
- Adenoma of the thyroid (patient information)
- Adenoma of the thyroid case study one
- Adenoma of the thyroid fine-needle aspiration biopsy (FNAB)
- Adenoma of the thyroid overview
- Adenoma of the thyroid pathophysiology
- Adenoma of the thyroid radionuclide imaging
- Adenylosuccinate lyase deficiency
- Adiposogenital dystrophy case study one
- Adiposogenital dystrophy causes
- Adiposogenital dystrophy classification
- Adiposogenital dystrophy cost-effectiveness of therapy
- Adiposogenital dystrophy CT
- Adiposogenital dystrophy differential diagnosis
- Adiposogenital dystrophy electrocardiogram
- Adiposogenital dystrophy epidemiology and demographics
- Adiposogenital dystrophy future or investigational therapies
- Adiposogenital dystrophy head x ray
- Adiposogenital dystrophy historical perspective
- Adiposogenital dystrophy history and symptoms
- Adiposogenital dystrophy laboratory findings
- Adiposogenital dystrophy medical therapy
- Adiposogenital dystrophy MRI
- Adiposogenital dystrophy natural history, complications and prognosis
- Adiposogenital dystrophy other diagnostic studies
- Adiposogenital dystrophy other imaging findings
- Adiposogenital dystrophy overview
- Adiposogenital dystrophy pathophysiology
- Adiposogenital dystrophy physical examination
- Adiposogenital dystrophy primary prevention
- Adiposogenital dystrophy risk factors
- Adiposogenital dystrophy screening
- Adiposogenital dystrophy secondary prevention
- Adiposogenital dystrophy surgery
- Adiposogenital dystrophy vision test
- Adrenal atrophy case study one
- Adrenal atrophy causes
- Adrenal atrophy classification
- Adrenal atrophy cost-effectiveness of therapy