Category:Genetic disorders
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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 |