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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
[203450] ALEXANDER DISEASE
[203500] ALKAPTONURIA
[231550] ALLGROVE SYNDROME
[203700] ALPERS SYNDROME
ALPHA-B CRYSTALLINE DISTAL MYOPATHY
[301040] ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME
[203780] ALPORT SYNDROME
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
ANGIOEDEMA
[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
[160150] AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY
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
[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)
[300376] BECKER MUSCULAR DYSTROPHY; BMD
[159050] 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
CEREBRAL CAVERNOUS MALFORMATIONS
[116860] 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
[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 DISORDER OF GLYCOSYLATION I
[212065] CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A
[607143] CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig; CDG1G
CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY; CFTDM
[255310] 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
[159001] EMERY-DREIFUSS MUSCULAR DYSTROPHY AUTOSOMAL DOMINANT (EDMD2)
[181350] 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
[308350] EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
[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
[227650] FANCONI ANEMIA
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
[229300] FRIEDREICH ATAXIA
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
HUNTINGTON DISEASE; HD
[143100] 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
INCLUSION BODY MYOSITIS; IBM
[147421] 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
[156200] INTELLECTUAL DISABILITY
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
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
[247200] MILLER-DIEKER LISSENCEPHALY SYNDROME
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 DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) MPV17
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 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 / 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
PARKINSON DISEASE
[168600] PARKINSON DISEASE
[300557] 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 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
[263570] POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM
POLYMALFORMATIVE SYNDROME
POLYMYOSITIS
POLYNEUROPATHY
Polyostotic fibrous dysplasia
[614678] PONTOCEREBELLAR HYPOPLASIA TYPE 1B
[176000] PORPHIRIA, ACUTA INTERMITTET
PRADER-WILLI SYNDROME
[176270] PRADER-WILLI SYNDROME
[300511] PREMATURE OVARIAN FAILURE
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
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; PEO
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; PEO
[157640] 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)
SPINAL MUSCULAR ATROPHY
[253300] 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
[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
88011
DNA
Affected
6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY, PTPS
Molecular
View
88012
Fibroblast cell line
Affected
6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY, PTPS
Molecular
View
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