Category:Genetic disorders

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For more information, see Genetic disorders.

Complete List in Alphabetical Order

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

Pages in category "Genetic disorders"

The following 200 pages are in this category, out of 1,727 total.

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