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[261640] 6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY, PTPS
8p23.1 MICRODELETION SYNDROME
[305400] AARSKOG-SCOTT SYNDROME
[100800] ACHONDROPLASIA
[254900] ACTION MYOCLONUS-RENAL FAILURE SYNDROME; AMRF
[601626] ACUTE MYELOID LEUKEMIA
[608033] ACUTE NECROTIZING ENCEPHALOPATHY; ANE
[201475] ACYL-CoA DEHYDROGENASE, LONG CHAIN, DEFICIENCY
[100300] ADAMS-OLIVER SYNDROME; AOS
[615511] ADENOSIN MONOPHOSPHATE DEAMINASE DEFICIENCY
[102700] ADENOSINE DEAMINASE
[201910] ADRENAL HYPERPLASIA III
ADULT-ONSET DISTAL MYOPATHY DUE TO VCP MUTATION
[202550] AGANGLIONOSIS, TOTAL INTESTINAL
[304050] AICARDI SYNDROME
[610326] AICARDI-GOUTIERES SYNDROME 2 (RNASEH2B)
[606754] AICARDI-GOUTIERES SYNDROME 5 (SAMHD1)
[118450] ALAGILLE SYNDROME
[615071] ALAZAMI SYNDROME; ALAZS
[203450] ALEXANDER DISEASE
[203500] ALKAPTONURIA
[231550] ALLGROVE SYNDROME
[203700] ALPERS SYNDROME
ALPHA-B CRYSTALLINE DISTAL MYOPATHY
[301040] ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME
ALPORT SYNDROME
[203780] ALPORT SYNDROME
[301050] ALPORT SYNDROME X-LINKED
[104200] ALPORT SYNDROME, AUTOSOMAL DOMINANT
[104300] ALZHEIMER DISEASE
AMYLOIDOSIS
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
[105550] AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA; ALSFTD
AMYOTROPHIC LATERAL SCLEROSIS WITH DEMENTIA
[105400] AMYOTROPHIC LATERAL SCLEROSIS; ALS
[162100] AMYOTROPHY, HEREDITARY NEURALGIC; HNA
[246700] ANDERSON DISEASE; ANDD
[206500] ANENCEPHALY
[105830] ANGELMAN SYNDROME
[106210] ANIRIDIA; AN
ANOMALIA MITOCONDRIALE NON SPECIFICATA
ANORECTAL ANOMALIES
[613780] AORTIC ANEURYSM, FAMILIAL THORACIC
[240300] APECED SYNDROME
[101200] APERT SYNDROME
[207900] ARGINOSUCCINICOACIDURIA
[602086] ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY; ARVD
ARSA PSEUDODEFICIENCY
ARTEROVENOUS MALFORMATION
[108110] ARTHROGRYPOSIS MULTIPLEX CONGENITA
[147900] ARTICULAR HYPERMOBILITY FAMILIAL
[208400] ASPARTYLGLYCOSAMINURIA
ASPECIFIC MYOPATHIC SIGNS
ASPECIFIC NEUROPATHY
[300494] ASPERGER SYNDROME
ATAXIA
[208920] ATAXIA WITH OCULOMOTOR APRAXIA, RECESSIVE
ATAXIA, MYOCLONUS EPILEPSY
[277460] ATAXIA, WITH SELECTIVE VITAMIN E DEFICIENCY
[208900] ATAXIA-TELANGIECTASIA
[300672] ATYPICAL RETT SYNDROME (HANEFELD VARIANT)
[272200] AUSTIN
AUTISM
[616414] AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (ALPS)
AUTOIMMUNE POLVENDOCRINE SYNDROME
AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY
[160150] AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY
AUTOSOMAL DOMINANT CEREBELLAR ATAXIA
[139312] AUTOSOMAL DOMINANT FOCAL DYSTONIA, DYT25, GNAL
[614455] AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE E
[169500] AUTOSOMAL DOMINANT LEUKODYSTROPHY; ADLD
[165500] AUTOSOMAL DOMINANT OPTIC ATROPHY; ADOA, TYPE 1
AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE
[182601] AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 4
AUTOSOMAL RECESSIVE ATAXIA DUE TO COENZYME Q10 DEFICIENCY; ADCK3
[611497] AUTOSOMAL RECESSIVE INTERMEDIATE OSTEOPETROSIS
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY
[611307] AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L
[137200] AUTOSOMAL RECESSIVE NEUROPATHY WITH NEUROMYOTONIA
AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB; GJB2
[263200] AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE
AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA PEOB1; POLG1
AXONAL NEUROPATHY
[608390] AZT MYOPATHY
[153480] BANNAYAN-RILEY-RUVALCABA SYNDROME
BARAITSER-WINTER SYNDROME
[209900] BARDET-BIEDL SYNDROME
BARTTER SYNDROME
[173410] BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 (PDGFRB)
[190040] BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 (PDGFB)
[605237] BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6 (XPR1)
[159050] BECKER MUSCULAR DYSTROPHY; BMD
[300376] BECKER MUSCULAR DYSTROPHY; BMD
[300376] BECKER MUSCULAR DYSTROPHY; BMD - CARRIER
[130650] BECKWITH-WIEDEMANN SYNDROME
[607876] BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY
[600293] BENIGN FAMILIAL CHOREA, ADENILATE CYCLASE 5 ADCY5
[269700] BERARDINELLI-SEIP SYNDROME
[153700] BEST VITELLIFORM MACULAR DYSTROPHY
[300526] BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION; WDR45
[613985] BETA-THALASSEMIA
[158810] BETHLEM MYOPATHY
BILATERAL STRIOPALLIDODENTATE CALCINOSIS (FAHR DISEASE)
[158378] BILATERAL STRIOPALLIDODENTATE CALCINOSIS (FAHR DISEASE), SLC20A2
BIPOLAR AFFECTIVE DISORDER
BJÖRNSTAD SYNDROME; BCS1L
[113650] BOR SYNDROME
[113620] BRANCHIOOCULOFACIAL SYNDROME
[114480] BREAST CANCER
[601003] BRODY MYOPATHY
BRUGADA SYNDROME
[125310] CADASIL SYNDROME
CAFFEY DISEASE
[114290] CAMPOMELIC DYSPLASIA
[131300] CAMURATI-ENGELMANN DISEASE
[271900] CANAVAN DISEASE
[237300] CARBAMOYLPHOSPHATE SYNTETASE DEFICIENCY
CARCINOMA MIDOLLARE TIROIDE
CARDIOMYOPATHY, DILATED
[613252] CARDIOMYOPATHY, DILATED, 1EE; CMD1EE
[192600] CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1
[608758] CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10; CMH10
[115197] CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4
[600858] CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6; CMH6
CARDIOMYOPATHY, HYPERTROPHIC
[160781] CARDIOMYOPATHY, HYPERTROPHIC 10
[602743] CARDIOMYOPATHY, HYPERTROPHIC 6
[255110] CARNITINE PALMITOYLTRANSFERASE II (CPT II) DEFICIENCY
[255110] CARNITINE PALMITOYLTRANSFERASE II (CPT II) DEFICIENCY
[255120] CARNITINE PALMITOYLTRANSFERASE II (CPT II) DEFICIENCY
[255110] CARNITINE PALMITOYLTRANSFERASE II (CPT II) DEFICIENCY - CARRIER
[115470] CAVANAGH'S SYNDROME (CONGENITAL THENAR HYPOPLASIA)
[212750] CELIAC DISEASE
[117000] CENTRAL CORE DISEASE
CENTRAL HYPOTONIA
CENTRONUCLEAR CONGENITAL MYOPATHY
[125310] CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS
[116860] CEREBRAL CAVERNOUS MALFORMATIONS
CEREBRAL CAVERNOUS MALFORMATIONS
[214200] CEROIDOLIPOFUSCINOSIS
CHARCOT-MARIE-TOOTH DISEASE
[118200] CHARCOT-MARIE-TOOTH DISEASE
[118220] CHARCOT-MARIE-TOOTH DISEASE TYPE 1A
CHARCOT-MARIE-TOOTH DISEASE TYPE 2
[606071] CHARCOT-MARIE-TOOTH DISEASE TYPE 2C
CHARCOT-MARIE-TOOTH NEUROPATHY
[214800] CHARGE SYNDROME
[147480] CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY; ICP
[602347] CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3; PFIC3
[118700] CHOREA, BENIGN HEREDITARY
CHROMOSOMAL REARRANGEMENT
CHROMOSOME DELETION
CHROMOSOME DICENTRIC
CHROMOSOME DOUBLE TRISOMY
CHROMOSOME DUPLICATION
CHROMOSOME INVERSION
CHROMOSOME MARKER
CHROMOSOME MARKER - MOSAICISM
CHROMOSOME MOSAICISM
CHROMOSOME RECIPROCAL TRANSLOCATION
CHRONIC DEGENERATIVE CHANGES
CHRONIC INFLAMMATORY DEMYELINATING POLYRADICULONEUROPATHY; CIDP
CHRONIC INTESTINAL PSEUDOOBSTRUCTION
CHRONIC MYOGENIC CHANGES
CHRONIC MYOPATHIC CHANGES
CHRONIC NEUROGENIC CHANGES
CHRONIC NEUROGENIC CHANGES + MILD MITOCHONDRIAL ALT.
CHRONIC NEUROMYOGENIC CHANGES
CHRONIC NEUROPATHY
[616479] CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA
[215700] CITRULLINEMIA CLASSIC
[602771] CLASSIC MULTIMINICORE MYOPATHY
[616788] CLEFT LIP/PALATE
[119600] CLEIDOCRANIAL DYSPLASIA
[612918] CLOVES SYNDROME
[609855] COASY PROTEIN-ASSOCIATED NEURODEGENERATION
[216400] COCKAYNE SYNDROME
[609412] COCKAYNE SYNDROME, TYPE A (ERCC8)
[609413] COCKAYNE SYNDROME, TYPE B (ERCC6)
[607426] COENZYME Q10 DEFICIENCY
[303600] COFFIN-LOWRY SYNDROME
[135900] COFFIN-SIRIS SYNDROME; CSS
[214150] COFS SYNDROME
[216550] COHEN SYNDROME
[120140] COLLAGEN, TYPE II, ALPHA-1; COL2A1
COLLAGENOPATHY
[608456] COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESS
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 15; MTFMT
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 8; AARS2
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; EARS2
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17; ELAC2
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6; AIFM1
CONGENITAL CARDIOPATHY
CONGENITAL CATARACT
CONGENITAL DISORDER OF GLYCOSYLATION I
[212065] CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A
[607143] CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig; CDG1G
[255310] CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY; CFTDM
CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY; CFTDM
CONGENITAL GLAUCOMA
[231300] CONGENITAL GLAUCOMA
Congenital malformation of skin, unspecified
CONGENITAL MINI CORE
[117000] CONGENITAL MULTI MINI CORE MYOPATHY
CONGENITAL MUSCULAR DYSTROPHY
[613205] CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION
[607855] CONGENITAL MUSCULAR DYSTROPHY TYPE 1A
[607855] CONGENITAL MUSCULAR DYSTROPHY TYPE 1A - CARRIER
[606612] CONGENITAL MUSCULAR DYSTROPHY WITH CEREBELLAR INVOLVEMENT
[606612] CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY
CONGENITAL MYOPATHY
CONGENITAL MYOPATHY WITH CARDIOMYOPATHY
CONGENITAL MYOTONIC DYSTROPHY
[222900] CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY (CSID)
CONGENITAL UNDERGROWTH OF LEFT LEG
CONNECTIVE TISSUE DISEASE
[605751] CONVULSIONS BENIGN FAMILIAL INFANTILE
CORNEAL DYSTROPHY
CORNELIA DE LANGE SYNDROME
[218040] COSTELLO SYNDROME
COWDEN SYNDROME
[158350] COWDEN SYNDROME 1
[610110] CRANIO-CERVICAL DYSTONIA WITH LARYNGEAL AND UPPER-LIMB INVOLVEMENT, DYT24 (ANO3)
CRANIOFRONTONASAL SYNDROME; CFNS
CRANIOSYNOSTOSIS
[300352] CREATINE DEFICIENCY SYNDROME
[123450] CRI-DU-CHAT SYNDROME
[601378] CRISPONI SYNDROME
CRITICAL ILLNESS MYOPATHY
CRITICAL ILLNESS NEUROPATHY; CIN
[123500] CROUZON SYNDROME
CYLINDRICAL SPYRALS MYOPATHY
[132700] CYLINDROMATOSIS
[219700] CYSTIC FIBROSIS
[219800] CYSTINOSIS
CYTOCHROME C OXIDASE DEFICIENCY; COX6B
[300257] DANON DISEASE
[251850] DAVIDSON DISEASE
DEAFNESS
DEFICIT ALFA DYSTROGLYCAN
DEGENERATIVE NEUROPATHY
DEL 11 Q
DEL 22 (Q 11.2)
DEL 22 Q
DEL CHR 7P
[127750] DEMENTIA WITH LEWY BODIES; DLB
DEMYELINATING NEUROPATHY
[300009] DENT DISEASE 1; DENT1
DERMATOMYOSITIS
[601419] DESMIN-RELATED MYOFIBRILLAR MYOPATHY
DEVELOPMENTAL RETARDATION
DIAGNOSI PRENATALE
[222600] DIASTROPHIC DYSPLASIA
[222700] DIBASICAMINOACIDURIA II
[188400] DIGEORGE SYNDROME; DGS
DISORDERS OF SEX DEVELOPMENT; DSD
DISTAL MYOPATHY
DISTAL MYOPATHY WITH RIMMED VACUOLES
DISTROFIA RETINICA
DISTROPHY
DOMINANT DISTAL MYOPATHY
[128230] DOPA-RESPONSIVE DYSTONIA
[182125] DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY, SPR
[190685] DOWN SYNDROME - TRISOMY 21
[607208] DRAVET SYNDROME
[310200] DUCHENNE MUSCULAR DYSTROPHY; DMD
DUPLICATION/INVERSION 15Q11
[223800] DYGGVE-MELCHIOR-CLAUSEN DISEASE
[305000] DYSKERATOSIS CONGENITA, X-LINKED; DKC
DYSMORPHIC SYNDROME
DYSTONIA
[606834] DYSTONIA 28, CHILDHOOD-ONSET, KMT2B
DYSTROPHIC SIGN
[612067] EARLY-ONSET DYSTONIA PARKINSONISM, DYT16
[128100] EARLY-ONSET GENERALIZED TORSION DYSTONIA, DYT1
ECHOGRAPHIC MALFORMATION
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE
EHLERS-DANLOS SYNDROME
[130000] EHLERS-DANLOS SYNDROME TYPE I
[130050] EHLERS-DANLOS SYNDROME TYPE IV
EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE
EHLERS-DANLOS/OSTEOGENESIS IMPERFECTA SYNDROME
[225500] ELLIS-VAN CREVELD SYNDROME
[181350] EMERY-DREIFUSS MUSCULAR DYSTROPHY AUTOSOMAL DOMINANT (EDMD2)
[159001] EMERY-DREIFUSS MUSCULAR DYSTROPHY AUTOSOMAL DOMINANT (EDMD2)
[310300] EMERY-DREIFUSS MUSCULAR DYSTROPHY X-LINKED (EDMD1)
EMOGLOBINOPATHY
ENCEPHALOPATHY
[166000] ENCHONDROMATOSIS MULTIPLE
ENDOCRINE MYOPATHY
EOSINOPHILIC FASCIITIS
EPIDERMAL NERVUS SYNDROME
EPIDERMOLYSIS BULLOSA
[226670] EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY
[131900] EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE
EPILEPSY
[121200] EPILEPSY BENIGN NEONATAL
[254770] EPILEPSY JUVENILE MYOCLONIC
EPILEPSY PROGRESSIVE MYOCLONIC (ND)
[600512] EPILEPSY, FAMILIAL TEMPORAL LOBE, 1
[600669] EPILEPSY, IDIOPATHIC GENERALIZED; EIG
EPILEPTIC ENCEPHALOPATHY
[308350] EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
[613721] Epileptic encephalopathy, early infantile, 11
[300088] EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9; EIEE9
[132400] EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1
ESSENTIAL HYPERCKEMIA
[190300] ESSENTIAL TREMOR; ET
ETHYLMALONIC ENCEPHALOPATHY; ETHE1
[133700] EXOSTOSES, MULTIPLE, TYPE I
[301500] FABRY DISEASE
FACIOSCAPULOHUMERAL DYSTROPHY
[158900] FACIOSCAPULOHUMERAL DYSTROPHY TYPE 1
[158901] FACIOSCAPULOHUMERAL DYSTROPHY TYPE 2
FACTOR XIII DEFICIENCY
[213600] FAHR DISEASE
FAMILIAL ABDOMINAL AORTIC ANEURYSM
[175100] FAMILIAL ADENOMATOUS POLYPOSIS
FAMILIAL DOLICHOCEPHALY
FAMILIAL ISOLATED HYPOPARATHYROIDISM
[162000] FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY TYPE 1
FAMILIAL MEDITERRANEAN FEVER
FAMILIAL MYOFIBRILLAR MYOPATHY
[173600] FAMILIAL SPONTANEOUS PNEUMOTHORAX
FANCONI ANEMIA
[227650] FANCONI ANEMIA
[227810] FANCONI-BICKEL SYNDROME
[228000] FARBER DISEASE
[226350] FASCIITIS
FEBRILE CONVULSIONS FAMILIAL
[135100] FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP
[228600] FIBROMATOSIS, JUVANILE HYALINE
Fibrous dysplasia of bone
[136140] FLOATING-HARBOR SYNDROME
FOCAL MYOSITIS
[309548] FRAGILE SITE, FOLIC ACID TYPE, RARE, FRA(X)(q28);
[300624] FRAGILE X SYNDROME
[300623] FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS
[193700] FREEMAN-SHELDON SYNDROME
FRIEDREICH ATAXIA
[229300] FRIEDREICH ATAXIA
[305620] FRONTOMETAPHYSEAL DYSPLASIA
[600274] FRONTOTEMPORAL DEMENTIA; FTD
[229700] FRUCTOSE 1,6 DIPHOSPHATE DEFICIENCY
[229600] FRUCTOSE INTOLERANCE
[230000] FUCOSIDOSIS
[228930] FUHRMANN SYNDROME
[230400] GALACTOSEMIA (GALT -)
[230500] GANGLIOSIDOSIS GM 1 TYPE 1
[230600] GANGLIOSIDOSIS GM 1 TYPE 2
GASTROINTESTINAL STROMAL TUMOR
[230800] GAUCHER 1
[230900] GAUCHER 2
[231000] GAUCHER 3
[231050] GELEOPHYSIC DWARFISM
Genetic multiple congenital anomalies/dysmorphic syndrome
[231070] GERODERMA OSTEODYSPLASTICA
[256850] GIANT AXONAL NEUROPATHY
[143500] GILBERT SYNDROME
[263800] GITELMAN SYNDROME
[606657] GLAUCOMA, NORMAL TENSION
[231670] GLUTARICACIDEMIA I
[602744] GLYCERONEPHOSPHATE O-ACYLTRANSFERASE
GLYCOGEN STORAGE DISEASE
GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, LATE-ONSET
[232200] GLYCOGEN STORAGE DISEASE Ia
[232220] GLYCOGEN STORAGE DISEASE IB
[232300] GLYCOGEN STORAGE DISEASE II, POMPE DISEASE
[232400] GLYCOGEN STORAGE DISEASE III
[232500] GLYCOGEN STORAGE DISEASE IV
[306000] GLYCOGEN STORAGE DISEASE IX
[232600] GLYCOGEN STORAGE DISEASE V
[613507] GLYCOGEN STORAGE DISEASE XV
[164210] GOLDENHAR SYNDROME
[228250] GOLLOP-WOLFGAN COMPLEX
[300200] GONADOTROPIN DEFICIENCY
[109400] GORLIN SYNDROME
[175700] GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
[169600] HAILEY-HAILEY DISEASE
HAIR-AN SYNDROME
HEALTHY SUBJECT
HEALTHY SUBJECT (FAMILY MEMBER)
Healthy control
Healthy subject
[235000] HEMIHYPERTROPHY
[231100] HEMOCHROMATOSIS NEONATAL
[235200] HEMOCHROMATOSIS TYPE 1
HEREDITARY BREAST AND OVARIAN CANCER SYNDROME
[134790] HEREDITARY HYPERFERRITINEMIA WITH CONGENITAL CATARACTS; FTL
[605820] HEREDITARY INCLUSION BODY MYOPATHY
[606463] HEREDITARY LATE-ONSET PARKINSON DISEASE (GBA)
HEREDITARY MOTOR AND SENSORY NEUROPATHY
[162500] HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES
[141749] HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN
HEREDITARY SPASTIC PARAPARESIS
HERMAPHRODITISM
[235900] HISTIOCYTOSIS X
[142900] HOLT-ORAM SYNDROME
[236200] HOMOCYSTINURIA
[143100] HUNTINGTON DISEASE; HD
HUNTINGTON DISEASE; HD
HYPERCHOLESTEROLEMIA FAMILIAL
[143890] HYPERCHOLESTEROLEMIA FAMILIAL
[307030] HYPERGLYCEROLEMIA
[238300] HYPERGLYCINEMIA NONKETOTIC
[138130] HYPERINSULINISM-HYPERAMMONEMIA SYNDROME
[238600] HYPERLIPOPROTEINEMIA1 TYPE 1
[145701] HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE
[146000] HYPOCHONDROPLASIA; HCH
[146110] HYPOGONADOTROPIC HYPOGONADISM
[170400] HYPOKALEMIC PERIODIC PARALYSIS; HPP
[300337] HYPOMELANOSIS OF ITO
[610532] HYPOMYELINATION AND CONGENITAL CATARACT
[612438] HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA
Hypophosphatasia
[241510] HYPOPHOSPHATASIA CHILDHOOD
[241500] HYPOPHOSPHATASIA INFANTILE
ICHTHYOSIS
[308100] ICHTHYOSIS X-LINKED
[178500] IDIOPATHIC PULMONARY FIBROSIS
[167320] INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE
[147421] INCLUSION BODY MYOSITIS; IBM
INCLUSION BODY MYOSITIS; IBM
[308300] INCONTINENTIA PIGMENTI
[603604] INFANTILE NEUROAXONAL DYSTROPHY; PLA2G6
INFERTILITY
INFLAMMATORY + NEUROMYOGENIC CHANGES
INFLAMMATORY MYOPATHY
INFLAMMATORY NEUROPATHY
INFLAMMATORY VASCULITIS
[270450] INSULIN LIKE GROWTH FACTOR 1 RECEPTOR - IGF1R
INTELLECTUAL DISABILITY
[156200] INTELLECTUAL DISABILITY
[614748] INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL; ILNEB
INTRAUTERINE FETAL DEATH
[304790] IPEX
ISOLATED COQ-CYTOCHROME C REDUCTASE DEFICIENCY
ISOLATED KLIPPEL-FEIL SYNDROME
ISOLATED MEGALENCEPHALY
ISOLATED MICROPENIS
[166700] ISOLATED OSTEOPOIKILOSIS
[243500] ISOVALERICACIDEMIA
[123150] JACKSON-WEISS SYNDROME
[213300] JOUBERT SYNDROME
[137750] JUVENILE GLAUCOMA
JUVENILE PAGET DISEASE
[174900] JUVENILE POLYPOSIS SYNDROME
KABUKI SYNDROME
[147920] KABUKI SYNDROME 1; KABUK1
KALLMANN SYNDROME
[244400] KARTAGENER SYNDROME
[530000] KEARNS-SAYRE SYNDROME; KSS
[610253] KLEEFSTRA SYNDROME DUE TO 9q34 MICRODELETION
KLINEFELTER SYNDROME
[149000] KLIPPEL TRENAUNAY WEBWER SYNDROME
Klippel-Feil anomaly-myopathy-facial dysmorphism
[245200] KRABBE DISEASE
[308840] L1 CELL ADHESION MOLECULE - L1CAM
LAMBERT-EATON MYASTHENIC SYNDROME; LEMS
LANGUAGE DELAY
[245600] LARSEN SYNDROME
[245800] LAURENCE-MOON SYNDROME
LEBER HEREDITARY OPTIC NEUROPATHY; LHON
[535000] LEBER OPTIC ATROPHY
LEFT VENTRICULAR NONCOMPACTION
[256000] LEIGH SYNDROME
LEIGH SYNDROME, NDUFAF10
[246200] LEPRECHAUNISM
[127300] LERI-WEILL DYSCHONDROSTEOSIS; LWD
[308950] LESCH-NYHAN SYNDROME
[300322] LESCH-NYHAN SYNDROME
[151400] LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL
LEUKODYSTROPHY
[608804] LEUKODYSTROPHY, HYPOMYELINATING, 2
[607694] LEUKODYSTROPHY, HYPOMYELINATING, 7, W/ OR W/O OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION; DARS2
[603896] LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
[612944] LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY (RNASET2)
LGMD2D ALPHA-SARCOGLYCANOPATHY
LIMB-GIRDLE MUSCULAR DYSTROPHY
LIMB-GIRDLE MUSCULAR DYSTROPHY
[159001] LIMB-GIRDLE MUSCULAR DYSTROPHY 1B
[607801] LIMB-GIRDLE MUSCULAR DYSTROPHY 1C
[603511] LIMB-GIRDLE MUSCULAR DYSTROPHY 1D
[253600] LIMB-GIRDLE MUSCULAR DYSTROPHY 2A
[253600] LIMB-GIRDLE MUSCULAR DYSTROPHY 2A - LGMD2A CARRIER
[253601] LIMB-GIRDLE MUSCULAR DYSTROPHY 2B
[253700] LIMB-GIRDLE MUSCULAR DYSTROPHY 2C
[608099] LIMB-GIRDLE MUSCULAR DYSTROPHY 2D - LGMD2D CARRIER
[604286] LIMB-GIRDLE MUSCULAR DYSTROPHY 2E
[601287] LIMB-GIRDLE MUSCULAR DYSTROPHY 2F
[607155] LIMB-GIRDLE MUSCULAR DYSTROPHY 2I
[608807] LIMB-GIRDLE MUSCULAR DYSTROPHY 2J
[609308] LIMB-GIRDLE MUSCULAR DYSTROPHY 2K
[613158] LIMB-GIRDLE MUSCULAR DYSTROPHY 2N
LIPID RIBOFLAVIN RESPONSIVE MYOPATHY
LIPID STORAGE MYOPATHY
LIPID STORAGE MYOPATHY
LIPID STORAGE MYOPATHY - CARNITINE DEFICIENCY
[212140] LIPID STORAGE MYOPATHY - CARNITINE DEFICIENCY
[192500] LONG QT SYNDROME 1
[309000] LOWE SYNDROME
[226960] LOWRY-WOOD SYNDROME
LUNG ADENOCARCINOMA
[120435] LYNCH SYNDROME I
[605309] MACROCEPHALY-INTELLECTUAL DISABILITY-AUTISM SYNDROME
MADELUNG DEFORMITY
MAFFUCCI SYNDROME
[108420] MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA
[145600] MALIGNANT HYPERTHERMIA
[606761] MALONYL-CoA DECARBOXYLASE - MLYCD
[248500] MANNOSIDOSIS
[248600] MAPLE SYRUP URINE DISEASE
[154700] MARFAN SYNDROME, TYPE I
[174800] MCCUNE-ALBRIGHT SYNDROME
[155255] MEDULLOBLASTOMA; MDB
MELANOMA
[155720] MELANOMA, UVEAL
MELANOMA-PANCREATIC CANCER SYNDROME
[155900] MELKERSSON-ROSENTHAL SYNDROME
[155950] MELORHEOSTOSISMELORHEOSTOSIS WITH OSTEOPOIKILOSIS, INCLUDED
[309400] MENKES DISEASE
MENTAL RETARDATION AND MALFORMATIONS
[300143] MENTAL RETARDATION, X-LINKED 21; MRX21
METABOLIC DISEASE
METABOLIC MYOPATHY
METACHONDROMATOSIS
[250100] METACHROMATIC LEUCODYSTROPHY
[249900] METACHROMATIC LEUCODYSTROPHY SAP B DEF
[250250] METAPHYSEAL CHONDRODYSPLASIA MCKUSICK TYPE
[156500] METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
[156550] METATROPIC DWARFISM
[236250] METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY
[251000] METHYLMALONICOACIDEMIA
[254200] MIASTHENIA GRAVIS
[156610] MICHELIN TIRE BABY SYNDROME
MILD MITOCHONDRIAL CHANGES
MILD MYOPATHIC + CORES
MILD MYOPATHIC + DEGENERATIVE CHANGES
MILD MYOPATHIC + INFLAMMATORY CHANGES
MILD MYOPATHIC + MITOCHONDRIAL CHANGES
MILD MYOPATHIC CHANGES
[613327] MILD MYOPATHY
MILD NEUROGENIC + MITOCHONDRIAL CHANGES
MILD NEUROGENIC CHANGES
MILD NEUROGENIC CHANGES + AUTOPHAGIC VACUOLES
MILD NEUROGENIC SIGNS
MILD NEUROMYOGENIC + MITOCHONDRIAL CHANGES
MILD NEUROMYOGENIC CHANGES
MINICORE MYOPATHY (SEPN1 MUTATED)
MINIMAL MYOPATHIC CHANGES
MINIMAL NEUROGENIC CHANGES
MISCARRIAGE
MITOCHONDRIAL + NEUROGENIC CHANGES
[252010] MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY; ACAD9
MITOCHONDRIAL COMPLEX II DEFICIENCY
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY
MITOCHONDRIAL DISEASE
[251880] MITOCHONDRIAL DNA DEPLETION SYNDROME
MITOCHONDRIAL ENCEPHALOMYOPATHY
[220110] MITOCHONDRIAL ENCEPHALOMYOPATHY - COX DEFICIENCY (COX1, MTCO1)
[614297] MITOCHONDRIAL MEMBRANE PROTEIN-ASSOCIATED NEURODEGENERATION; C19ORF12
MITOCHONDRIAL MYOPATHY
[602473] MITOCHONDRIAL MYOPATHY (ETHE1)
[615084] MITOCHONDRIAL MYOPATHY (PEO)
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA 1; PUS1
[540000] MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS
MIYOSHI MYOPATHY
[605908] MLC1 - MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SU
[236270] MMA-HOMOCYSTINURIA
MODY
[157900] MOEBIUS SYNDROME
[252150] MOLYBDENUM COFACTOR DEFICIENCY
[300523] MONOCARBOXYLATE TRASPORTER 8 DEFICIENCY
MORRIS SYNDROME
MOTOR NEURON DISEASE
MOTOR NEURON DISEASE, PRIMARY LATERAL SCLEROSIS; PLS
[235730] MOWAT-WILSON SYNDROME
[252500] MUCOLIPIDOSIS II ALPHA/BETA
[252600] MUCOLIPIDOSIS III ALPHA/BETA
[252605] MUCOLIPIDOSIS III GAMMA
[252650] MUCOLIPIDOSIS IV
[607015] MUCOPOLYSACCHARIDOSIS I
[309900] MUCOPOLYSACCHARIDOSIS II
[252900] MUCOPOLYSACCHARIDOSIS IIIA
[252920] MUCOPOLYSACCHARIDOSIS IIIB
[252930] MUCOPOLYSACCHARIDOSIS IIIC
[252940] MUCOPOLYSACCHARIDOSIS IIID
[253000] MUCOPOLYSACCHARIDOSIS IVA
[253010] MUCOPOLYSACCHARIDOSIS IVB
[253200] MUCOPOLYSACCHARIDOSIS VI
[253220] MUCOPOLYSACCHARIDOSIS VII
[602849] MUENKE SYNDROME
[253260] MULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET
[253270] MULTIPLE CARBOXYLASE DEFICIENCY, NEONATAL FORM
MULTIPLE CONGENITAL ANOMALIES/DYSMORPHIC SYNDROME
MULTIPLE CONGENITAL ANOMALIES/DYSMORPHIC SYNDROME-INTELLECTUAL DISABILITY
[131100] MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1
MULTIPLE EPIPHYSEAL DYSPLASIA
MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4
MULTIPLE MITOCHONDRIAL DNA DELETION SYNDROME
MULTIPLE OSTEOCHONDROMAS
MULTIPLE OSTEOCHONDROMATOSIS
[146500] MULTIPLE SYSTEM ATROPHY TYPE C (MSA-C)
[146500] MULTIPLE SYSTEM ATROPHY-TYPE P (MSA-P)
MULTISYSTEMIC DISORDER
[253280] MUSCLE-EYE-BRAIN DISEASE
MUSCULAR DYSTROPHY
MUSCULAR FIBERS DISPROPORTION
MUSCULAR GLYCOGENOSIS
MYASTHENIA GRAVIS
[254300] MYASTHENIC SYNDROME, CONGENITAL
[254500] MYELOMA MULTIPLE
[102770] MYOADENILATE DEAMINASE DEFICIENCY
[159900] MYOCLONIC DYSTONIA
[609304] MYOCLONIC ENCEPHALOPATHY
[545000] MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF
[254800] MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG
[605021] MYOCLONIC EPILEPSY, FAMILIAL INFANTILE; FIME
[604149] MYOCLONUS-DYSTONIA SYNDROME; SGCE, DYT11
MYOFIBRILLAR MYOPATHY
[612954] MYOFIBRILLAR MYOPATHY TYPE MFM3, BAG3
MYOPATHIC + DEGENERATIVE CHANGES
MYOPATHIC + INFLAMMATORY CHANGES
MYOPATHIC + MITOCHONDRIAL CHANGES
MYOPATHIC CHANGES
MYOPATHIC CHANGES + CORES
MYOPATHIC CHANGES + LIPIDS
MYOPATHIC CHANGES + MITOCHONDRIAL ALTERATIONS
MYOPATHIC CHANGES + TYPE II HYPOTROPHY
MYOPATHIC DEGENERATIVE CHANGES
MYOPATHY
MYOPATHY / HYPERTROPHIC CARDIOMYOPATHY
MYOPATHY / MARFAN SYNDROME
[608358] MYOPATHY, HYALINE BODY
MYOPATHY-GROWTH DELAY-INTELLECTUAL DISABILITY-HYPOSPADIAS SYNDROME
MYOTONIA CONGENITA
[255700] MYOTONIA CONGENITA, AUTOSOMAL-RECESSIVE
[160800] MYOTONIA CONGENITA, THOMSEN DISEASE
[160900] MYOTONIC DYSTROPHY TYPE 1
[602668] MYOTONIC DYSTROPHY TYPE 2
[310400] MYOTUBULAR MYOPATHY 1
NAIL-PATELLA SYNDROME
[302350] NANCE-HORAN SYNDROME; NHS
[551500] NARP SYNDROME
NECROTIZING MYOPATHY
[161800] NEMALINE MYOPATHY
[256030] NEMALINE MYOPATHY 2; NEM2
[161800] NEMALINIC MYOPATHY
NEPHROPATHY
[182940] NEURAL TUBE DEFECT
[256550] NEURAMINIDASE DEFICENCY
[256540] NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY
NEUROAXONAL DYSTROPHY
[256600] NEUROAXONAL DYSTROPHY, INFANTILE
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; NBIA
NEURODEGENERATIVE DISEASE
[613675] NEUROFIBROMATOSIS
[162200] NEUROFIBROMATOSIS TYPE I; NF1
[101000] NEUROFIBROMATOSIS TYPE II; NF2
NEUROGENIC + INFLAMMATORY CHANGES
NEUROGENIC + MITOCHONDRIAL CHANGES
NEUROGENIC + MYOFIBRILLAR CHANGES
NEUROGENIC ATROPHY
NEUROGENIC CHANGES
NEUROGENIC CHANGES + NEMALIN BODIES
NEUROGENIC MYOPATHY
NEUROMUSCULAR DISEASE
NEUROMYOGENIC + AUTOPHAGIC CHANGES
NEUROMYOGENIC + MITOCHONDRIAL CHANGES
NEUROMYOGENIC CHANGES
NEUROMYOGENIC CHANGES + AUTOPHAGIC VACUOLES
NEUROMYOGENIC CHANGES + INFLAMMATION AND DEGENER.
[610127] NEURONAL CEROID LIPOFUSCINOSIS 10 - CLN10
[256731] NEURONAL CEROID LIPOFUSCINOSIS 5 - CLN5
[610951] NEURONAL CEROID LIPOFUSCINOSIS 7 - CLN7
[600143] NEURONAL CEROID LIPOFUSCINOSIS 8 - CLN8
[256730] NEURONAL CEROID LIPOFUSCINOSIS INFANTILE TYPE - CLN1
[204200] NEURONAL CEROID LIPOFUSCINOSIS JUVENILE TYPE - CLN3
[204500] NEURONAL CEROID LIPOFUSCINOSIS LATE INFANTILE - CLN2
[601780] NEURONAL CEROID LIPOFUSCINOSIS LATE INFANTILE - CLN6
NEURONAL CEROID LIPOFUSCINOSIS; NCL
[600794] NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA
NEUROPATHY
[162400] NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA; HSAN1A
[609059] NEUTRAL LIPID STORAGE MYOPATHY
[601358] NICOLAIDES BARAITSER SYNDROME; NCBRS
[257200] NIEMANN-PICK DISEASE TYPE A
[607616] NIEMANN-PICK DISEASE TYPE B
[257220] NIEMANN-PICK DISEASE TYPE C
NON-SPECIFIC PATHOLOGIC ALTERATIONS
[163950] NOONAN SYNDROME 1
[616564] NOONAN SYNDROME 10; NS10
NORMAL CONTROL
NORMAL MUSCLE BIOPSY
NORMAL NERVE BIOPSY
NORMAL SKIN BIOPSY
NOT POSSIBLE
Not Specified
[120200] OCULAR COLOBOMA
[203200] OCULOCUTANEOUS ALBINISM
[164300] OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD
[258040] OEIS COMPLEX (CLOACAL EXSTROPHY)
OLLIER DISEASE
OPITZ SYNDROME
OPTIC ATROPHY
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY; OPA1
[311250] ORNITHINE-TRANSCARBAMYLASE DEFICIENCY
[604864] OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA; OSCDP; (MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS)
OSTEOGENESIS IMPERFECTA
[166200] OSTEOGENESIS IMPERFECTA TYPE I
OSTEOGENESIS IMPERFECTA TYPE I - NEUROFIBR.
[166210] OSTEOGENESIS IMPERFECTA TYPE II
[259420] OSTEOGENESIS IMPERFECTA TYPE III
[166220] OSTEOGENESIS IMPERFECTA TYPE IV
[166350] OSTEOMA CUTIS (MULTIPLE)
[259680] OSTEOMYELITIS CHRONIC MULTIFOCAL
[259700] OSTEOPETROSIS
[259750] OSTEOPOROSIS JUVENILE
[259770] OSTEOPOROSIS PSEUDOGLIOMA
OTHER DISORDERS
OTHER MOVEMENT DISORDERS
PAGET DISEASE OF BONE
[167250] PAGET DISEASE OF BONE 3; PDB3
[616833] PAGET DISEASE OF BONE 6; PDB6
[601803] PALLISTER-KILLIAN SYNDROME
[260350] PANCREATIC CARCINOMA
[606157] PANTOTHENATE KINASE 2
[234200] PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN
[168300] PARAMYOTONIA CONGENITA
PARAPARESIS / ATAXIA
[300557] PARKINSON DISEASE
[168600] PARKINSON DISEASE
PARKINSON DISEASE
[600116] PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2
[605909] PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6
[607060] PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8
[128200] PAROXYSMAL KINESIGENIC DYSKINESIA (PKD-DYT10), PRRT2
[118800] PAROXYSMAL NON-KINESIGENIC DYSKINESIA (DYT8), MR1
PARTIAL DUPLICATION OF CHROMOSOME 1P
PARTIAL MONOSOMY OF CHROMOSOME 14q
PARTIAL MONOSOMY CHROMOSOME 22q
PEARSON SYNDROME
[312080] PELIZAEUS-MERZBACHER DISEASE
[274600] PENDRED SYNDROME
PERIODIC PARALYSIS -MYOGENIC CHANGES
PERVASIVE DEVELOPMENTAL DISORDER
[261540] PETERS PLUS SYNDROME
[101600] PFEIFFER SYNDROME
[606519] PHACE ASSOCIATION
[261600] PHENYLKETONURIA
[261630] PHENYLKETONURIA II
[610954] PITT-HOPKINS SYNDROME
[610042] PITT-HOPKINS-SIMILE SYNDROME
[173800] POLAND SYNDROME
[173900] POLYCYSTIC KIDNEYS
[603596] POLYDACTYLY
[174700] POLYDACTYLY, PREAXIAL IV; PPD4
[263570] POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM
POLYMALFORMATIVE SYNDROME
POLYMYOSITIS
POLYNEUROPATHY
Polyostotic fibrous dysplasia
[614678] PONTOCEREBELLAR HYPOPLASIA TYPE 1B
[176000] PORPHIRIA, ACUTA INTERMITTET
[176270] PRADER-WILLI SYNDROME
PRADER-WILLI SYNDROME
PREMATURE OVARIAN FAILURE
[300511] PREMATURE OVARIAN FAILURE
PRENYL DIPHOSPHATE SYNTHASE, SUBUNIT 1
PRIMARY ANGLE-CLOSURE GLAUCOMA
[602629] PRIMARY DYSTONIA, DYT6 TYPE
[137760] PRIMARY OPEN ANGLE GLAUCOMA
PRIMARY OVARIAN FAILURE
[157640] PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; PEO
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; PEO
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; PEO
[232000] PROPIONICACIDEMIA
PROSTATIC CARCINOMA
[177170] PSEUDOACHONDROPLASIA
[264800] PSEUDOXANTHOMA ELASTICUM
PSYCHOMOTOR RETARDATION
PULMONARY FIBROSIS
PURE DYSTONIA
[265800] PYCNODYSOSTOSIS
[312170] PYRUVATE DEHYDROGENASE COMPLEX
[245349] PYRUVATE DEHYDROGENASE DEFICIENCY
[608782] PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY; PDH
[128235] RAPID-ONSET DYSTONIA-PARKINSONISM (DYT12), ATP1A3
RARE GENETIC DYSTONIC DISORDER
Rare hereditary connective tissue disease
RARE SYNDROME WITH CARDIAC MALFORMATIONS
RECURRENT TRIPLOIDY
[120330] RENAL COLOBOMA SYNDROME
RETINITIS PIGMENTOSA
[180200] RETINOBLASTOMA
[312700] RETINOSCHISIS X-LINKED
[312750] RETT SYNDROME
[312750] RETT SYNDROME - CLASSIC RETT
[613454] RETT SYNDROME - CONGENITAL
RETT SYNDROME - EARLY SEIZURES VARIANT
RETT SYNDROME - FROME FRUSTE
RETT SYNDROME - ND (AGE LESS THAN 4 YEARS)
[312750] RETT SYNDROME - SUSPECT
RETT SYNDROME - ZAPPELLA VARIANT
RETT-LIKE SYNDROME
[215100] RHIZOMELIC CHONDRODYSPLASIA PUNCTATA
[180500] RIEGER SYNDROME TYPE 1
[616606] RING CHROMOSOME 14 SYNDROME
RIPPLING MUSCLE DISEASE
[268300] ROBERTS SYNDROME; RBS
[277000] ROKITANSKY-KUSTER-HAUSER SYNDROME
[268400] ROTHMUND-THOMSON SYNDROME
[180849] RUBINSTEIN-TAYBI SYNDROME
[613684] RUBINSTEIN-TAYBI SYNDROME 2
[101400] SAETHRE-CHOTZEN SYNDROME
[604369] SALLA DISEASE
[268800] SANDHOFF DISEASE
SARCOGLYCAN, DELTA; SGCD
SARCOGLYCANOPATHY
[181000] SARCOIDOSIS
SCHWANNOMA
SECKEL SYNDROME
[184095] SED, MAROTEAUX TYPE (PSEUDO-MORQUIO SYNDROME TYPE 2)
SENGERS SYNDROME, AGK
[607459] SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME; SANDO
SEVERE COMBINED IMMUNODEFICIENCY; SCID
SEVERE MYOPATHIC CHANGES
SEVERE NEUROGENIC CHANGES
SEVERE NEUROMYOGENIC CHANGES
SEX CHROMOSOME ANEUPLOIDY
SHORT STATURE
[260400] SHWACHMAN-BODIAN SYNDROME
[269920] SIALIC ACID STORAGE DISEASE
[603903] SICKLE CELL ANEMIA
[300263] SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME
[272120] SIDS
[123550] SIMPLE CRYOGLOBULINEMIA
[270200] SJOGREN-LARSSON SYNDROME
SKELETAL DYSPLASIA
[182290] SMITH-MAGENIS SYNDROME; SMS
[117550] SOTOS SYNDROME
[270550] SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS - CARRIER
[604360] SPASTIC PARAPLEGIA 11 - SPG11
[270685] SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT; SPG17
[610670] SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE (CYP2U1)
[313200] SPINAL BULBAR MUSCULAR ATROPHY (KENNEDY DISEASE)
[253300] SPINAL MUSCULAR ATROPHY
SPINAL MUSCULAR ATROPHY
[253300] SPINAL MUSCULAR ATROPHY TYPE I
[253550] SPINAL MUSCULAR ATROPHY TYPE II
[253400] SPINAL MUSCULAR ATROPHY TYPE III
[164400] SPINOCEREBELLAR ATAXIA 1; SCA1
SPINOCEREBELLAR ATAXIA; SCA
[183600] SPLIT-HAND/FOOT MALFORMATION
[271510] SPONASTRIME DYSPLASIA
[272460] SPONDYLOCARPOTARSAL SYNDROME; SCT
[277300] SPONDYLOCOSTAL DYSOSTOSIS
[300106] SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED
[183900] SPONDYLOEPIPHYSEAL DYSPLASIA
[208230] SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY; SEDT-PA
[149400] STARTLE SYNDROME - HYPEREKPLEXIA
STATIN MYOPATHY
STICKLER SYNDROME
[615934] STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET; SAVI
[601559] STUVE-WIEDEMANN SYNDROME
SUBACUTE COMBINED SCLEROSIS, HYPOCALCEMIA
[271980] SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
[185620] SURF1
SYNDACTYLY, TYPE II
[163890] SYNUCLEIN, ALPHA; SNCA
[272800] TAY-SACHS DISEASE
[313700] TESTICULAR FEMINIZATION
TETRAPLOIDY
[187601] THANATOPHORIC DYSPLASIA TYPE II
[187600] THANATOPHORIC DYSPLASIA TYPE I
[606152] THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE ENCEPHALOPATHY TYPE 2) (SLC19A3)
[154500] TREACHER-COLLINS SYNDROME
[601675] TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS
[609015] TRIFUNCTIONAL PROTEIN DEFICIENCY
[275630] TRIGLYCERIDE STORAGE
TRIPLOIDY
TRISOMY 13
TRISOMY 18
[191100] TUBEROUS SCLEROSIS; TS
[160565] TUBULAR AGGREGATE MYOPATHY
TURNER MOSAIC
TURNER SYNDROME
[191290] TYROSINE HYDROXYLASE DEFICIENCY, TH
[276600] TYROSINEMIA TYPE II
[254090] ULLRICH CONGENITAL MUSCULAR DYSTROPHY
Undiagnosed
[276900] USHER SYNDROME TYPE I
VACUOLAR MYOPATHY
[192350] VATER/VACTERL ASSOCIATION
[192430] VELOCARDIO FACIAL SYNDROME
[193300] VON HIPPEL-LINDAU SYNDROME
WAARDENBURG SYNDROME
[194072] WAGR SYNDROME
[236670] WALKER-WARBURG SYNDROME
[277590] WEAVER SYNDROME
[609757] WILLIAMS-BEUREN REGION DUPLICATION SYNDROME
[194050] WILLIAMS-BEUREN SYNDROME
[277900] WILSON DISEASE
[301000] WISKOTT-ALDRICH SYNDROME
[194190] WOLF-HIRSCHHORN SYNDROME
[222300] WOLFRAM SYNDROME 1
[278000] WOLMAN DISEASE
X DUPLICATION
[310440] X-LINKED MYOPATY WITH EXCESSIVE AUTOPHAGY; XMEA
[300500] X-LINKED RECESSIVE OCULAR ALBINISM
[312700] X-LINKED RETINOSCHISIS
[278700] XERODERMA PIGMENTOSUM I
[278800] XERODERMIC IDIOCY OF DE SANCTIS AND CACCHIONE
[603736] YOUNG-SIMPSON SYNDROME
ID
Sample type
Gender
Phenotype
Diagnosis
Diagnosis type
20239
Fibroblast cell line
Female
Not Affected
ADENOSINE DEAMINASE
Enzymatic
View
20240
Fibroblast cell line
Male
Not Affected
ADENOSINE DEAMINASE
Enzymatic
View
20693
Fibroblast cell line
Male
Not Affected
ADENOSINE DEAMINASE
Enzymatic
View
24115
EBV-Lymphoblast cell line
Male
Affected
ADENOSINE DEAMINASE
Clinical
View
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