|
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
|
(Orphanet:35701)
|
|
3-methylglutaconic aciduria type 3
|
(Orphanet:67047)
|
|
4-hydroxybutyric aciduria
|
(Orphanet:22)
|
|
46,XX gonadal dysgenesis
|
(Orphanet:243)
|
|
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
|
(Orphanet:752)
|
|
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
|
(Orphanet:753)
|
|
6-@PHOSPHOFRUCTO-2-KINASE/FRUCTOSE-2,6-BISPHOSPHATASE 1
|
(OMIM:311790)
|
|
ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1
|
(OMIM:189980)
|
|
ACETOPHENETIDIN SENSITIVITY
|
(OMIM:200300)
|
|
ACETYLATION, SLOW
|
(OMIM:243400)
|
|
AICA-ribosiduria
|
(Orphanet:250977)
|
|
AL amyloidosis
|
(Orphanet:85443)
|
|
ALOPECIA UNIVERSALIS CONGENITA
|
(OMIM:203655)
|
|
ALPHA-2-DEFICIENT COLLAGEN DISEASE
|
(OMIM:203760)
|
|
AMELOGENESIS IMPERFECTA, TYPE IE
|
(OMIM:301200)
|
|
AMOBARBITAL, DEFICIENT N-HYDROXYLATION OF
|
(OMIM:204800)
|
|
ANEMIA, AUTOIMMUNE HEMOLYTIC
|
(OMIM:205700)
|
|
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, ASSOCIATED WITH ABNORMALITY OF REDCELL MEMBRANE
|
(OMIM:206300)
|
|
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
|
(OMIM:201750)
|
|
APOLIPOPROTEIN(a)
|
(OMIM:152200)
|
|
AREDYLD syndrome
|
(Orphanet:1133)
|
|
Adult polyglucosan body disease
|
(Orphanet:206583)
|
|
Alkaptonuria
|
(Orphanet:56)
|
|
Alopecia - intellectual deficit - hypergonadotropic hypogonadism
|
(Orphanet:1014)
|
|
Alpha-thalassemia - X-linked intellectual deficit syndrome
|
(Orphanet:847)
|
|
Arachnoiditis
|
(Orphanet:137817)
|
|
Aromatase deficiency
|
(Orphanet:91)
|
|
Arterial dissection - lentiginosis
|
(Orphanet:1682)
|
|
Arthrogryposis due to muscular dystrophy
|
(Orphanet:1155)
|
|
Aspartylglucosaminuria
|
(Orphanet:93)
|
|
Ataxia - hypogonadism - choroidal dystrophy
|
(Orphanet:1180)
|
|
Atelosteogenesis type II
|
(Orphanet:56304)
|
|
Autosomal dominant limb-girdle muscular dystrophy type 1F
|
(Orphanet:55595)
|
|
Autosomal recessive malignant osteopetrosis
|
(Orphanet:667)
|
|
BEETURIA
|
(OMIM:109600)
|
|
BLOOD GROUP, DUFFY SYSTEM
|
(OMIM:110700)
|
|
Baraitser-Winter syndrome
|
(Orphanet:2995)
|
|
Bartter syndrome
|
(Orphanet:112)
|
|
Beta-mannosidosis
|
(Orphanet:118)
|
|
CALVARIAL HYPEROSTOSIS
|
(OMIM:302030)
|
|
CARBOXYLESTERASE 1
|
(OMIM:114835)
|
|
CARBOXYPEPTIDASE N DEFICIENCY
|
(OMIM:212070)
|
|
CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 5
|
(OMIM:114890)
|
|
CATECHOL-O-METHYLTRANSFERASE
|
(OMIM:116790)
|
|
CEPHALIN LIPIDOSIS
|
(OMIM:212800)
|
|
CEREBELLOPARENCHYMAL DISORDER V
|
(OMIM:213400)
|
|
CHOROID PLEXUS CALCIFICATION AND MENTAL RETARDATION
|
(OMIM:215480)
|
|
CHOROIDAL OSTEOMA, BILATERAL
|
(OMIM:118865)
|
|
CHROMOSOME 8q12.1-q21.2 DELETION SYNDROME
|
(OMIM:600257)
|
|
CITRULLINE TRANSPORT DEFECT
|
(OMIM:215720)
|
|
CLN1 disease
|
(Orphanet:228329)
|
|
COMPLEMENT COMPONENT 6
|
(OMIM:217050)
|
|
COMPLEMENT FACTOR I
|
(OMIM:217030)
|
|
COMPLEX I, SUBUNIT ND2
|
(OMIM:516001)
|
|
COMPLEX I, SUBUNIT ND5
|
(OMIM:516005)
|
|
COMPLEX I, SUBUNIT ND6
|
(OMIM:516006)
|
|
COMPLEX IV, CYTOCHROME c OXIDASE SUBUNIT I
|
(OMIM:516030)
|
|
CONE DYSTROPHY, X-LINKED, WITH TAPETAL-LIKE SHEEN
|
(OMIM:304030)
|
|
CONE-ROD DYSTROPHY 1
|
(OMIM:600624)
|
|
CONE-ROD DYSTROPHY, X-LINKED, 1
|
(OMIM:304020)
|
|
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE I/IIx
|
(OMIM:212067)
|
|
CORONARY ARTERY DISSECTION, SPONTANEOUS
|
(OMIM:122455)
|
|
COUMARIN RESISTANCE
|
(OMIM:122700)
|
|
CYSTEINE PEPTIDURIA
|
(OMIM:219550)
|
|
CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 2
|
(OMIM:124060)
|
|
CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19
|
(OMIM:124020)
|
|
CYTOCHROME b OF COMPLEX III
|
(OMIM:516020)
|
|
CYTOCHROME c OXIDASE III
|
(OMIM:516050)
|
|
Cardiomyopathy, familial hypertrophic, 1
|
(OMIM:192600)
|
|
Cardiomyopathy, familial restrictive, 1
|
(OMIM:115210)
|
|
Carnitine palmitoyl transferase 1A deficiency
|
(Orphanet:156)
|
|
Celiac disease, epilepsy and cerebral calcification syndrome
|
(Orphanet:1459)
|
|
Central diabetes insipidus
|
(Orphanet:178029)
|
|
Cerebellar ataxia - hypogonadism
|
(Orphanet:1173)
|
|
Choanal atresia - deafness - cardiac defects - dysmorphism
|
(Orphanet:1200)
|
|
Chronic recurrent multifocal osteomyelitis
|
(Orphanet:324964)
|
|
Congenital adrenal hyperplasia
|
(Orphanet:418)
|
|
Congenital intrinsic factor deficiency
|
(Orphanet:332)
|
|
Congenital myasthenic syndromes
|
(Orphanet:590)
|
|
Congenital neuronal ceroid lipofuscinosis
|
(Orphanet:168486)
|
|
Congenital sodium diarrhea
|
(Orphanet:103908)
|
|
Congenital sucrase-isomaltase deficiency
|
(Orphanet:35122)
|
|
Congenital valvular dysplasia
|
(Orphanet:1864)
|
|
Conotruncal heart malformations
|
(Orphanet:2445)
|
|
Corneal-cerebellar syndrome
|
(Orphanet:3177)
|
|
Corticosteroid-binding globulin deficiency
|
(Orphanet:199247)
|
|
Cutis laxa
|
(Orphanet:209)
|
|
DELETED IN AZOOSPERMIA
|
(OMIM:400003)
|
|
DERMATOLEUKODYSTROPHY
|
(OMIM:221790)
|
|
DNA DAMAGE-BINDING PROTEIN 1
|
(OMIM:600045)
|
|
DOPAMINE BETA-HYDROXYLASE, PLASMA, THERMOLABILITY OF
|
(OMIM:223380)
|
|
DRUG METABOLISM, POOR, CYP2D6-RELATEDDRUG METABOLISM, ULTRARAPID, CYP2D6-RELATED, INCLUDED
|
(OMIM:608902)
|
|
Desquamative interstitial pneumonia
|
(Orphanet:98852)
|
|
Diffuse neonatal hemangiomatosis
|
(Orphanet:2123)
|
|
Distal monosomy 10q
|
(Orphanet:96148)
|
|
Dysequilibrium syndrome
|
(Orphanet:1766)
|
|
ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVEFACIAL FEATURES
|
(OMIM:609944)
|
|
ELLIPTOCYTOSIS, ATYPICAL
|
(OMIM:225450)
|
|
EPILEPSY-TELANGIECTASIA
|
(OMIM:226850)
|
|
EPOXIDE HYDROLASE 1, MICROSOMAL
|
(OMIM:132810)
|
|
ETHANOLAMINOSIS
|
(OMIM:227150)
|
|
ETS VARIANT GENE 1
|
(OMIM:600541)
|
|
Ectodermal dysplasia - intellectual deficit - central nervous system malformation
|
(Orphanet:1812)
|
|
Ehlers-Danlos syndrome, kyphoscoliotic type
|
(Orphanet:1900)
|
|
Emanuel syndrome
|
(Orphanet:96170)
|
|
Encephalopathy due to GLUT1 deficiency
|
(Orphanet:71277)
|
|
Epidermodysplasia verruciformis
|
(Orphanet:302)
|
|
FLOOD FACTOR DEFICIENCY
|
(OMIM:136150)
|
|
FORKHEAD BOX O4
|
(OMIM:300033)
|
|
FRAXE intellectual deficit
|
(Orphanet:100973)
|
|
FUCOSIDASE, ALPHA-L, 2
|
(OMIM:136820)
|
|
Familial adrenal hypoplasia with absent pituitary luteinizing hormone
|
(Orphanet:95700)
|
|
Familial benign copper deficiency
|
(Orphanet:1551)
|
|
Familial hyperthyroidism due to mutations in TSH receptor
|
(Orphanet:424)
|
|
Familial isolated congenital asplenia
|
(Orphanet:101351)
|
|
Familial pseudohyperkalemia
|
(Orphanet:90044)
|
|
Familial reactive perforating collagenosis
|
(Orphanet:79147)
|
|
Fetal iodine syndrome
|
(Orphanet:1910)
|
|
Fingerprint body myopathy
|
(Orphanet:97232)
|
|
Fowler syndrome
|
(Orphanet:221126)
|
|
GAPO syndrome
|
(Orphanet:2067)
|
|
GLUTATHIONE REDUCTASE
|
(OMIM:138300)
|
|
GRANULOMAS, CONGENITAL CEREBRAL
|
(OMIM:306300)
|
|
GRAVES DISEASE, SUSCEPTIBILITY TO, 1
|
(OMIM:275000)
|
|
GYNECOMASTIA, FAMILIAL
|
(OMIM:306500)
|
|
Galactokinase deficiency
|
(Orphanet:79237)
|
|
Galactose epimerase deficiency
|
(Orphanet:79238)
|
|
Galactosemia
|
(Orphanet:352)
|
|
Gamma-glutamyl transpeptidase deficiency
|
(Orphanet:33573)
|
|
Gamma-glutamylcysteine synthetase deficiency
|
(Orphanet:33574)
|
|
Generalized peeling skin syndrome
|
(Orphanet:263543)
|
|
Glomuvenous malformation
|
(Orphanet:83454)
|
|
Glutaryl-CoA dehydrogenase deficiency
|
(Orphanet:25)
|
|
Glutathione synthetase deficiency
|
(Orphanet:32)
|
|
Glycogen storage disease due to acid maltase deficiency
|
(Orphanet:365)
|
|
Glycogen storage disease due to glycogen branching enzyme deficiency
|
(Orphanet:367)
|
|
Glycogen storage disease due to muscle phosphofructokinase deficiency
|
(Orphanet:371)
|
|
Growth delay due to insulin-like growth factor type 1 deficiency
|
(Orphanet:73272)
|
|
Gyrate atrophy of choroid and retina
|
(Orphanet:414)
|
|
HEPARIN-BINDING EGF-LIKE GROWTH FACTOR
|
(OMIM:126150)
|
|
HOOFT DISEASE
|
(OMIM:236300)
|
|
HYPERMETABOLISM DUE TO DEFECT IN MITOCHONDRIA
|
(OMIM:238800)
|
|
HYPERPROGLUCAGONEMIA
|
(OMIM:145270)
|
|
HYPOASCORBEMIA
|
(OMIM:240400)
|
|
HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA
|
(OMIM:228300)
|
|
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5
|
(OMIM:225250)
|
|
Heinz body anemia
|
(Orphanet:178330)
|
|
Hemolytic anemia due to diphosphoglycerate mutase deficiency
|
(Orphanet:714)
|
|
Hennekam-Beemer syndrome
|
(Orphanet:2135)
|
|
Hereditary coproporphyria
|
(Orphanet:79273)
|
|
Hereditary hyperferritinemia with congenital cataracts
|
(Orphanet:163)
|
|
Hereditary sensory and autonomic neuropathy type 2
|
(Orphanet:970)
|
|
Hyperleucine-isoleucinemia
|
(OMIM:238340)
|
|
Hypoplasminogenemia
|
(Orphanet:722)
|
|
ICHTHYOSIS AND MALE HYPOGONADISMRUD SYNDROME, INCLUDED
|
(OMIM:308200)
|
|
IMMUNODEFICIENCY WITH DEFECTIVE T-CELL RESPONSE TO INTERLEUKIN 1
|
(OMIM:243110)
|
|
INOSINE PHOSPHORYLASE DEFICIENCY, IMMUNE DEFECT DUE TO
|
(OMIM:243080)
|
|
Ichthyosis hystrix of Curth-Macklin
|
(Orphanet:79503)
|
|
Infantile Refsum disease
|
(Orphanet:772)
|
|
Infantile neuroaxonal dystrophy
|
(Orphanet:35069)
|
|
Infantile osteopetrosis with neuroaxonal dysplasia
|
(Orphanet:85179)
|
|
Intellectual deficit - myopathy - short stature - endocrine defect
|
(Orphanet:3068)
|
|
Intellectual deficit, X-linked, Armfield type
|
(Orphanet:85276)
|
|
Isolated 3-methylcrotonyl-CoA carboxylase deficiency
|
(Orphanet:6)
|
|
Isolated follicle stimulating hormone deficiency
|
(Orphanet:52901)
|
|
Isolated glycerol kinase deficiency
|
(Orphanet:408)
|
|
Isolated thyroid-stimulating hormone deficiency
|
(Orphanet:90674)
|
|
Ito hypomelanosis
|
(Orphanet:435)
|
|
KERATOSIS, FAMILIAL ACTINIC
|
(OMIM:148390)
|
|
Krabbe disease
|
(Orphanet:487)
|
|
LACTOSE INTOLERANCE, ADULT TYPE
|
(OMIM:223100)
|
|
LIPASE B, LYSOSOMAL ACID
|
(OMIM:247980)
|
|
LIPASE DEFICIENCY, COMBINED
|
(OMIM:246650)
|
|
LUBS X-LINKED MENTAL RETARDATION SYNDROME
|
(OMIM:300260)
|
|
LUTHERAN SUPPRESSOR, X-LINKED
|
(OMIM:309050)
|
|
LYMPHOBLASTIC TRANSFORMATION, INHIBITION OF
|
(OMIM:247430)
|
|
LYMPHOBLASTIC TRANSFORMATION, INTRINSIC DEFECT IN
|
(OMIM:247450)
|
|
LYMPHOKINE DEFICIENCY
|
(OMIM:247650)
|
|
Lafora disease
|
(Orphanet:501)
|
|
Laron syndrome
|
(Orphanet:633)
|
|
Larsen-like osseous dysplasia - short stature
|
(Orphanet:2370)
|
|
Lethal Larsen-like syndrome
|
(Orphanet:2371)
|
|
Leukocyte adhesion deficiency type II
|
(Orphanet:99843)
|
|
Lissencephaly type 3 - metacarpal bone dysplasia
|
(Orphanet:86822)
|
|
MACROCYTOSIS, FAMILIAL
|
(OMIM:600084)
|
|
MAGNESIUM, ELEVATED RED CELL
|
(OMIM:248260)
|
|
MCF.2 CELL LINE-DERIVED TRANSFORMING SEQUENCE
|
(OMIM:311030)
|
|
METAPHYSEAL CHONDRODYSPLASIA, PENA TYPE
|
(OMIM:250300)
|
|
METHEMOGLOBINEMIA TYPE IV
|
(OMIM:250790)
|
|
MICROPHTHALMIA, SYNDROMIC 7
|
(OMIM:309801)
|
|
MITOCHONDRIAL MYOPATHY
|
(OMIM:251900)
|
|
MITOCHONDRIAL MYOPATHY WITH A DEFECT IN MITOCHONDRIAL-PROTEIN TRANSPORT
|
(OMIM:251945)
|
|
MONOAMINE OXIDASE B
|
(OMIM:309860)
|
|
MOTOR NEURON DISEASE WITH DEMENTIA AND OPHTHALMOPLEGIA
|
(OMIM:600333)
|
|
MUCUS INSPISSATION OF RESPIRATORY TRACT
|
(OMIM:253240)
|
|
MUSCULAR DYSTROPHY, SCAPULOHUMERAL
|
(OMIM:600416)
|
|
MYOPATHY WITH GIANT ABNORMAL MITOCHONDRIA
|
(OMIM:255140)
|
|
MYOPATHY, GRANULOVACUOLAR LOBULAR, WITH ELECTRICAL MYOTONIA
|
(OMIM:254950)
|
|
MYOTONIC MYOPATHY WITH CYLINDRICAL SPIRALS
|
(OMIM:160990)
|
|
Macular corneal dystrophy
|
(Orphanet:98969)
|
|
Microcephaly - brain defect - spasticity - hypernatremia
|
(Orphanet:2523)
|
|
Microcytic anemia with liver iron overload
|
(Orphanet:83642)
|
|
Miller-Dieker syndrome
|
(Orphanet:531)
|
|
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency
|
(Orphanet:1194)
|
|
Mitochondrial myopathy - lactic acidosis - deafness
|
(Orphanet:2597)
|
|
Mitochondrial myopathy and sideroblastic anemia
|
(Orphanet:2598)
|
|
Monilethrix
|
(Orphanet:573)
|
|
Mowat-Wilson syndrome
|
(Orphanet:2152)
|
|
Muckle-Wells syndrome
|
(Orphanet:575)
|
|
Multiple myeloma
|
(Orphanet:29073)
|
|
Myeloperoxidase deficiency
|
(Orphanet:2587)
|
|
NEURAL TUBE DEFECTS, FOLATE-SENSITIVE
|
(OMIM:601634)
|
|
NEUROLOGIC DISEASE, INFANTILE MULTISYSTEM, WITH OSSEOUS FRAGILITY
|
(OMIM:256720)
|
|
NEURONAL INTESTINAL DYSPLASIA, TYPE B
|
(OMIM:601223)
|
|
NEUROVISCERAL STORAGE DISEASE WITH CURVILINEAR BODIES
|
(OMIM:257000)
|
|
NEUTROPHIL ACTIN DYSFUNCTION
|
(OMIM:257150)
|
|
NK2 HOMEOBOX 1
|
(OMIM:600635)
|
|
NORMOKALEMIC PERIODIC PARALYSIS
|
(OMIM:170600)
|
|
Neonatal acute respiratory distress with surfactant metabolism deficiency
|
(Orphanet:217563)
|
|
Neonatal adrenoleukodystrophy
|
(Orphanet:44)
|
|
Neonatal hemochromatosis
|
(Orphanet:446)
|
|
Nephrogenic diabetes insipidus - intracranial calcification
|
(Orphanet:3145)
|
|
Neurofaciodigitorenal syndrome
|
(Orphanet:2673)
|
|
Neuronal ceroid lipofuscinosis
|
(Orphanet:216)
|
|
OCULAR MYOPATHY WITH CURARE SENSITIVITY
|
(OMIM:257600)
|
|
OCULORENOCEREBELLAR SYNDROME
|
(OMIM:257970)
|
|
ONCOCYTOMA
|
(OMIM:553000)
|
|
OSTEOPETROSIS AND INFANTILE NEUROAXONAL DYSTROPHY
|
(OMIM:600329)
|
|
OVARIAN CANCEROVARIAN CANCER, EPITHELIAL, INCLUDED
|
(OMIM:167000)
|
|
Obesity due to melanocortin 4 receptor deficiency
|
(Orphanet:71529)
|
|
Oculogastrointestinal muscular dystrophy
|
(Orphanet:1876)
|
|
Oculotrichodysplasia
|
(Orphanet:2718)
|
|
Osteogenesis imperfecta type 5
|
(Orphanet:216828)
|
|
Osteomesopyknosis
|
(Orphanet:2777)
|
|
Osteosarcoma
|
(Orphanet:668)
|
|
Ovarian gonadoblastoma
|
(Orphanet:206484)
|
|
PARAOXONASE 1
|
(OMIM:168820)
|
|
PELVIC LIPOMATOSIS WITH CROSSED RENAL ECTOPIA
|
(OMIM:169545)
|
|
PHAGOCYTOSIS, PLASMA-RELATED DEFECT IN
|
(OMIM:171100)
|
|
PLATELET PROSTACYCLIN RECEPTOR DEFECT
|
(OMIM:262875)
|
|
POLYCYSTIC OVARY SYNDROME 1
|
(OMIM:184700)
|
|
PREMATURE CENTROMERE DIVISION
|
(OMIM:212790)
|
|
PREMATURE OVARIAN FAILURE 1
|
(OMIM:311360)
|
|
PROGESTERONE RESISTANCE
|
(OMIM:264080)
|
|
PSEUDOCHOLINESTERASE, INCREASE IN PLASMA LEVEL OF
|
(OMIM:177600)
|
|
PSEUDOURIDINURIA AND MENTAL DEFECT
|
(OMIM:264500)
|
|
PYGMY
|
(OMIM:265850)
|
|
Pacman dysplasia
|
(Orphanet:1952)
|
|
Papillary or follicular thyroid carcinoma
|
(Orphanet:146)
|
|
Parkinsonian-pyramidal syndrome
|
(Orphanet:171695)
|
|
Pelizaeus-Merzbacher disease
|
(Orphanet:702)
|
|
Pendred syndrome
|
(Orphanet:705)
|
|
Peroxisomal acyl-CoA oxidase deficiency
|
(Orphanet:2971)
|
|
Perry syndrome
|
(Orphanet:178509)
|
|
Pleuropulmonary blastoma family tumor susceptibility syndrome
|
(Orphanet:284343)
|
|
Pontocerebellar hypoplasia type 4
|
(Orphanet:166063)
|
|
Posterior fusion of lumbosacral vertebrae - blepharoptosis
|
(Orphanet:2064)
|
|
Primary ciliary dyskinesia
|
(Orphanet:244)
|
|
Primary hyperoxaluria
|
(Orphanet:416)
|
|
Primary membranoproliferative glomerulonephritis
|
(Orphanet:54370)
|
|
Prolidase deficiency
|
(Orphanet:742)
|
|
Properdin deficiency
|
(Orphanet:2966)
|
|
Protein R deficiency
|
(Orphanet:2967)
|
|
Pyridoxine-dependent epilepsy
|
(Orphanet:3006)
|
|
Qazi-Markouizos syndrome
|
(Orphanet:3010)
|
|
REGENERATING ISLET-DERIVED 1-ALPHA
|
(OMIM:167770)
|
|
RENIN
|
(OMIM:179820)
|
|
Recurrent infections - inflammatory syndrome due to zinc metabolism disorder
|
(Orphanet:251523)
|
|
Refsum disease
|
(Orphanet:773)
|
|
Retinal degeneration - nanophthalmos - glaucoma
|
(Orphanet:1574)
|
|
Retinopathy - anemia- central nervous system anomalies
|
(Orphanet:3088)
|
|
Rhizomelic chondrodysplasia punctata
|
(Orphanet:177)
|
|
Ribose 5-phosphate isomerase deficiency
|
(OMIM:608611)
|
|
Richards-Rundle syndrome
|
(Orphanet:1399)
|
|
SCHIZOPHRENIA 4
|
(OMIM:600850)
|
|
SJOGREN SYNDROME
|
(OMIM:270150)
|
|
SODIUM-POTASSIUM-ATPase ACTIVITY OF RED CELL
|
(OMIM:270425)
|
|
SPERMATOGENIC FAILURE 1
|
(OMIM:258150)
|
|
SPERMATOGENIC FAILURE 4
|
(OMIM:270960)
|
|
SPERMATOGENIC FAILURE, X-LINKED, 1
|
(OMIM:305700)
|
|
SPERMATOGENIC FAILURE, X-LINKED, 2
|
(OMIM:309120)
|
|
SPINOCEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS
|
(OMIM:271322)
|
|
SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 2
|
(OMIM:183840)
|
|
SPONDYLOEPIPHYSEAL DYSPLASIA WITH PUNCTATE CORNEAL DYSTROPHY
|
(OMIM:183850)
|
|
SUCROSURIA, HIATUS HERNIA AND MENTAL RETARDATION
|
(OMIM:272000)
|
|
Salla disease
|
(Orphanet:309334)
|
|
Sandhoff disease
|
(Orphanet:796)
|
|
Short stature due to growth hormone qualitative anomaly
|
(Orphanet:629)
|
|
Short stature, Brussels type
|
(Orphanet:2867)
|
|
Sialidosis type 2
|
(Orphanet:87876)
|
|
Sialuria
|
(Orphanet:3166)
|
|
Spastic paraplegia - precocious puberty
|
(Orphanet:2826)
|
|
Sudden infant death - dysgenesis of the testes
|
(Orphanet:168593)
|
|
Syndromic X-linked ichthyosis
|
(Orphanet:281090)
|
|
T-CELL LEUKEMIA, HOMEOBOX 1
|
(OMIM:186770)
|
|
T-CELL LEUKEMIA/LYMPHOMA 4
|
(OMIM:186860)
|
|
T-SUBSTANCE ANOMALY
|
(OMIM:276200)
|
|
TETRAAMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES
|
(OMIM:273390)
|
|
THANATOPHORIC DYSPLASIA, GLASGOW VARIANT
|
(OMIM:273680)
|
|
THYROID DYSHORMONOGENESIS 2A
|
(OMIM:274500)
|
|
THYROID DYSHORMONOGENESIS 5
|
(OMIM:274900)
|
|
TINEA IMBRICATA, SUSCEPTIBILITY TO
|
(OMIM:275240)
|
|
TRANSSEXUALITY
|
(OMIM:600952)
|
|
TREMOR OF INTENTION, ATAXIA, AND LIPOFUSCINOSIS
|
(OMIM:190200)
|
|
TRICHORRHEXIS NODOSA SYNDROME
|
(OMIM:275550)
|
|
TRISOMY 18-LIKE SYNDROME
|
(OMIM:601161)
|
|
TUMOR NECROSIS FACTOR
|
(OMIM:191160)
|
|
Testicular teratoma
|
(Orphanet:363483)
|
|
Thiopurine S-methyltransferase deficiency
|
(Orphanet:3315)
|
|
Thymic-renal-anal-lung dysplasia
|
(Orphanet:3326)
|
|
Transcobalamin deficiency
|
(Orphanet:859)
|
|
Transient bullous dermolysis of the newborn
|
(Orphanet:79411)
|
|
URATE-BINDING GLOBULIN, DECREASE IN
|
(OMIM:191530)
|
|
V-MYB AVIAN MYELOBLASTOSIS VIRAL ONCOGENE HOMOLOG
|
(OMIM:189990)
|
|
V-RAF MURINE SARCOMA 3611 VIRAL ONCOGENE HOMOLOG 1
|
(OMIM:311010)
|
|
VASCULITIS, LYMPHOCYTIC, NODULAR
|
(OMIM:192310)
|
|
VENTRICULAR TACHYCARDIA, FAMILIAL
|
(OMIM:192605)
|
|
VITILIGO, PROGRESSIVE, WITH MENTAL RETARDATION AND URETHRAL DUPLICATION
|
(OMIM:277465)
|
|
White sponge nevus
|
(Orphanet:171723)
|
|
X-linked creatine transporter deficiency
|
(Orphanet:52503)
|
|
X-linked distal arthrogryposis multiplex congenita
|
(Orphanet:1145)
|
|
X-linked reticulate pigmentary disorder with systemic manifestations
|
(Orphanet:85453)
|
|
X-linked sideroblastic anemia - ataxia
|
(Orphanet:2802)
|
|
XM SYSTEM
|
(OMIM:314900)
|
|
XYLOSIDASE DEFICIENCY
|
(OMIM:278900)
|
|
ZINC FINGER PROTEIN, Y-LINKED
|
(OMIM:490000)
|
|
[DEL] Familial restrictive cardiomyopathy type 1
|
(Orphanet:99985)
|
|
Åland Islands eye disease
|
(Orphanet:178333)
|