domingo, 27 de enero de 2019

Congenital and Genetic Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Congenital and Genetic Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

National Center for Advancing and Translational Sciences

Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Congenital and Genetic Diseases

DK phocomelia syndrome 
Dominant dystrophic epidermolysis bullosa 
Donnai-Barrow syndrome 
DOOR syndrome 
Dopa-responsive dystonia 
Dopamine beta hydroxylase deficiency 
Dopamine transporter deficiency syndrome 
Double inferior vena cava - Not a rare disease 
Dowling-Degos disease 
Drachtman Weinblatt Sitarz syndrome 
Dravet syndrome 
Duane syndrome 
Duane syndrome type 1 
Duane syndrome type 2 
Duane syndrome type 3 
Duane-radial ray syndrome 
Dubin-Johnson syndrome 
Dubowitz syndrome 
Duchenne muscular dystrophy 
Duodenal atresia 
Duplication of urethra 
Dwarfism - Not a rare disease 
Dwarfism familial with muscle spasms 
Dwarfism Levi type 
Dwarfism, low-birth-weight type with unresponsiveness to growth hormone 
Dwarfism, proportionate with hip dislocation 
Dyggve-Melchior-Clausen syndrome 
Dykes Markes Harper syndrome 
Dyschondrosteosis nephritis 
Dyschromatosis symmetrica hereditaria 1 
Dyschromatosis universalis hereditaria 
Dysequilibrium syndrome 
Dyskeratosis congenita 
Dyskeratosis congenita autosomal dominant 
Dyskeratosis congenita autosomal recessive 
Dyskeratosis congenita X-linked 
Dysplasia epiphysealis hemimelica 
Dyssegmental dysplasia and glaucoma 
Dyssegmental dysplasia Rolland-Desbuquois type 
Dyssegmental dysplasia Silverman-Handmaker type 
Dystonia 2, torsion, autosomal recessive 
Early Infantile Epileptic Encephalopathy 
Early infantile epileptic encephalopathy 25 
Early-onset anterior polar cataract 
Early-onset parkinsonism-intellectual disability syndrome 
Early-onset zonular cataract 
Early-onset, autosomal dominant Alzheimer disease 
Ebstein's anomaly 
Ectodermal dysplasia 
Ectodermal dysplasia skin fragility syndrome 
Ectodermal dysplasia trichoodontoonychial type 
Ectodermal dysplasia with natal teeth Turnpenny type 
Ectodermal dysplasia, hidrotic, Christianson-Fourie type 
Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features 
Ectropion inferior cleft lip and or palate 
EEC syndrome 
EEM syndrome 
Ehlers-Danlos syndrome, dysfibronectinemic type 
Eisenmenger syndrome 
Elastosis perforans serpiginosa 
Ellis Yale Winter syndrome 
Ellis-Van Creveld syndrome 
Emanuel syndrome 
Emery-Dreifuss muscular dystrophy, X-linked 
Encephalocraniocutaneous lipomatosis 
Encephalopathy due to prosaposin deficiency - See Sphingolipidosis 
Encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration 
Epidermodysplasia verruciformis 
Epidermolysa bullosa simplex with muscular dystrophy 
Epidermolysis bullosa simplex with mottled pigmentation 
Epidermolysis bullosa simplex, Dowling-Meara type 
Epidermolysis bullosa simplex, localized 
Epidermolysis bullosa simplex, Ogna type 
Epidermolysis bullosa, lethal acantholytic 
Epidermolytic ichthyosis 
Epidermolytic palmoplantar keratoderma 
Epilepsy juvenile absence 
Epilepsy with myoclonic-atonic seizures 
Epiphyseal dysplasia hearing loss dysmorphism 
Epiphyseal dysplasia multiple with early-onset diabetes mellitus 
Episodic ataxia with nystagmus 
Ermine phenotype 
Erythroderma lethal congenital 
Erythropoietic protoporphyria 
Erythropoietic uroporphyria associated with myeloid malignancy 
Escher Hirt syndrome 
Esophageal atresia 
Ethylmalonic encephalopathy 
Eunuchoidism familial hypogonadotropic 
Exstrophy of the bladder 
Fabry disease 
FACES syndrome 
Facial ectodermal dysplasia 
Facial onset sensory and motor neuronopathy 
Facio thoraco genital syndrome 
Faciocardiorenal syndrome 
Facioscapulohumeral muscular dystrophy 
Factor V deficiency 
Factor VII deficiency 
Factor X deficiency 
Factor XI deficiency 
Factor XII deficiency 
Factor XIII deficiency 
Fallot complex with severe mental and growth retardation 
Familial amyloidosis, Finnish type 
Familial atrial fibrillation 
Familial atypical multiple mole melanoma syndrome - Not a rare disease 
Familial avascular necrosis of the femoral head 
Familial bilateral striatal necrosis 
Familial breast cancer - Not a rare disease 
Familial caudal dysgenesis 
Familial cold autoinflammatory syndrome 
Familial congenital palsy of trochlear nerve 
Familial cutaneous collagenoma 
Familial cylindromatosis 
Familial dilated cardiomyopathy 
Familial Dupuytren contracture - Not a rare disease 
Familial dysautonomia 
Familial encephalopathy with neuroserpin inclusion bodies 
Familial exudative vitreoretinopathy 
Familial focal epilepsy with variable foci 
Familial glucocorticoid deficiency 
Familial HDL deficiency 
Familial hemiplegic migraine 
Familial hemiplegic migraine type 1 
Familial hemiplegic migraine type 2 
Familial hemiplegic migraine type 3 
Familial hyperaldosteronism type 2 
Familial hyperaldosteronism type III 
Familial hyperthyroidism due to mutations in TSH receptor 
Familial hypocalciuric hypercalcemia type 1 
Familial hypocalciuric hypercalcemia type 2 
Familial hypocalciuric hypercalcemia type 3 
Familial joint instability syndrome 
Familial LCAT deficiency 
Familial lipoprotein lipase deficiency 
Familial Mediterranean fever 
Familial multiple lipomatosis 
Familial osteochondritis dissecans 
Familial pancreatic cancer 
Familial partial lipodystrophy associated with PLIN1 mutations - See Familial partial lipodystrophy 
Familial partial lipodystrophy associated with PPARG mutations 
Familial partial lipodystrophy due to AKT2 mutations - See Familial partial lipodystrophy 
Familial partial lipodystrophy type 2 
Familial partial lipodystrophy type Köbberling 
Familial platelet disorder with associated myeloid malignancy 
Familial porencephaly 
Familial progressive cardiac conduction defect 
Familial prostate cancer 
Familial reactive perforating collagenosis 
Familial thoracic aortic aneurysm and dissection 
Familial thyroglossal duct cyst 
Familial visceral myopathy with external ophthalmoplegia 
Fanconi anemia 
Fanconi Bickel syndrome 
Farber's disease 
Fatal familial insomnia 
Fatty acid hydroxylase-associated neurodegeneration 
Faye-Petersen-Ward-Carey syndrome 
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 
Feigenbaum Bergeron Richardson syndrome 
Feingold syndrome 
Femoral facial syndrome 
Femur bifid with monodactylous ectrodactyly 
Femur fibula ulna syndrome 
Fertile eunuch syndrome 
Fetal akinesia deformation sequence 
Fetal aminopterin syndrome 
Fetal cystic hygroma 
Fetal hydantoin syndrome 
Fetal methylmercury syndrome 
Fetal retinoid syndrome 
Fetal thalidomide syndrome 
Fetal valproate syndrome 
FG syndrome 
FG syndrome 2 
FG syndrome 3 
Fibro-adipose vascular anomaly 
Fibrodysplasia ossificans progressiva 
Fibrous dysplasia 
Fibular aplasia ectrodactyly 
Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome 
Fibular hemimelia 
Fibular hypoplasia and complex brachydactyly 
Filippi syndrome 
Fine-Lubinsky syndrome 
Fingerprint body myopathy 
Fish-eye disease 
Fitzsimmons syndrome 
Fitzsimmons Walson Mellor syndrome 
Fitzsimmons-Guilbert syndrome 
Floating-Harbor syndrome 
Flynn Aird syndrome 
Focal cortical dysplasia of Taylor 
Focal dermal hypoplasia 
Focal facial dermal dysplasia 
Focal segmental glomerulosclerosis 
Follicle-stimulating hormone deficiency, isolated 
Fountain syndrome 
FOXG1 syndrome 
Fragile X syndrome 
Fragile XE syndrome 
Frank Ter Haar syndrome 
Fraser syndrome 
Frasier syndrome 
Free sialic acid storage disease 
Freeman Sheldon syndrome 
Frias syndrome 
Friedreich ataxia 
Frints De Smet Fabry Fryns syndrome 
Frontofacionasal dysplasia 
Frontometaphyseal dysplasia 
Frontonasal dysplasia 
Frontonasal dysplasia with alopecia and genital anomaly - See Frontonasal dysplasia 
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome - See Frontonasal dysplasia 
Frontorhiny - See Frontonasal dysplasia 
Frontotemporal dementia, ubiquitin-positive 
Froster-Huch syndrome 
Fructose-1,6-bisphosphatase deficiency 
Fryns Hofkens Fabry syndrome 
Fryns syndrome 
Fuchs endothelial corneal dystrophy - Not a rare disease 
Fuhrmann syndrome 
Fukuyama type muscular dystrophy 
Fumarase deficiency 
Fused mandibular incisors 
Galactokinase deficiency 
Galloway-Mowat syndrome 
Game Friedman Paradice syndrome 
Gamma aminobutyric acid transaminase deficiency 
Gamma-cystathionase deficiency 
GAPO syndrome 
Gardner syndrome 
Garret Tripp syndrome 
Gastrocutaneous syndrome 
Gastrointestinal Stromal Tumors 
GATAD2B-associated neurodevelopmental disorder 
Gaucher disease - ophthalmoplegia - cardiovascular calcification - See Gaucher disease 
Gaucher disease perinatal lethal 
Gaucher disease type 1 
Gaucher disease type 2 
Gaucher disease type 3 
Gay Feinmesser Cohen syndrome 
Geleophysic dwarfism 
Gemignani syndrome 
Generalized junctional epidermolysis bullosa, non-Herlitz type - See Junctional epidermolysis bullosa 
Generalized pustular psoriasis 
Genito palato cardiac syndrome 
Genitopatellar syndrome 
Genoa syndrome 
Genu valgum, st Helena familial 
Genuine diffuse phlebectasia 
Geroderma osteodysplastica 
Gerstmann-Straussler-Scheinker disease 
Gestational trophoblastic tumor 
Ghosal hematodiaphyseal dysplasia syndrome 
Ghose Sachdev Kumar syndrome 
Giant axonal neuropathy 
Giant congenital nevus 
Giant platelet syndrome 
Gillespie syndrome 
Gingival fibromatosis with distinctive facies 
Gingival fibromatosis with hypertrichosis 
Gitelman syndrome 
Glanzmann thrombasthenia 
Glass-Chapman-Hockley syndrome 
Glaucoma sleep apnea 
Glaucoma, Ectopia, Microspherophakia, Stiff joints and Short stature syndrome 
Glomerulonephritis with sparse hair and telangiectases 
Glomerulopathy with fibronectin deposits 1 
Glomerulopathy with fibronectin deposits 2 
Glucocorticoid-remediable aldosteronism 
Glucose transporter type 1 deficiency syndrome 
Glucose-galactose malabsorption 
Glutamate formiminotransferase deficiency 
Glutamine deficiency, congenital 
Glutaric acidemia type I 
Glutaric acidemia type II 
Glutaric acidemia type III 
Glycine N-methyltransferase deficiency 
Glycogen storage disease type 0, liver 
Glycogen storage disease type 12 
Glycogen storage disease type 13 
Glycogen storage disease type 1A 
Glycogen storage disease type 1B 
Glycogen storage disease type 3 
Glycogen storage disease type 4 
Glycogen storage disease type 5 
Glycogen storage disease type 6 
Glycogen storage disease type 7 
Glycoprotein VI deficiency 
GM1 gangliosidosis type 1 
GM1 gangliosidosis type 2 
GM1 gangliosidosis type 3 
GM3 synthase deficiency 
GMS syndrome 
Goldberg-Shprintzen megacolon syndrome 
Goldenhar disease 
Goldmann-Favre syndrome 
Gomez Lopez Hernandez syndrome 
Gordon syndrome 
Gorham's disease 
Gorlin Bushkell Jensen syndrome 
Gorlin Chaudhry Moss syndrome 
GOSR2-related progressive myoclonus ataxia 
Gracile bone dysplasia 
GRACILE syndrome 
Graham Boyle Troxell syndrome 
Graham-Cox syndrome 
Graham-Little-Piccardi-Lassueur syndrome 
Grant syndrome 
Gray platelet syndrome 
Greenberg dysplasia 
Greig cephalopolysyndactyly syndrome 
Griscelli syndrome type 1 
Griscelli syndrome type 2 
Griscelli syndrome type 3 
Groll Hirschowitz syndrome 
Growth hormone insensitivity with immunodeficiency 
Grubben de Cock Borghgraef syndrome 
GTP cyclohydrolase I deficiency 
Guanidinoacetate methyltransferase deficiency 
Guizar Vasquez Sanchez Manzano syndrome 
Gurrieri syndrome 
Gyrate atrophy of choroid and retina 
Hailey-Hailey disease 
Haim-Munk syndrome 
Hair defect-photosensitivity-intellectual disability syndrome 
Hairy elbows 
Halal syndrome 
Hall-Riggs syndrome 
Hallermann-Streiff syndrome 
Hamanishi Ueba Tsuji syndrome 
Hand and foot deformity with flat facies 
Hand foot uterus syndrome 
Hanhart syndrome 
Hard skin syndrome Parana type 
Hardikar syndrome 
Harding ataxia 
Harlequin ichthyosis 
Harlequin syndrome 
Harrod Doman Keele syndrome 
Hartnup disease 
Hay-Wells syndrome 
Heart defect, tongue hamartoma and polysyndactyly 
Heart-hand syndrome, Slovenian type 
Heart-hand syndrome, Spanish type 
HEC syndrome 
Hemangioma thrombocytopenia syndrome 
Hemangiomatosis, familial pulmonary capillary 
Hemi 3 syndrome 
Hemifacial hyperplasia strabismus 
Hemifacial microsomia 
Hemiplegic migraine 
Hemochromatosis type 2 
Hemochromatosis type 3 
Hemochromatosis type 4 
Hemoglobin C disease 
Hemoglobin E disease 
Hemoglobin SC disease 
Hemoglobin SE disease - Not a rare disease 
Hemophagocytic lymphohistiocytosis 
Hennekam syndrome 
Hepatic lipase deficiency 
Hepatic venoocclusive disease with immunodeficiency 
Hepatoerythropoietic porphyria 
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome 
Hereditary antithrombin deficiency 
Hereditary congenital facial paresis 
Hereditary coproporphyria 
Hereditary diffuse gastric cancer 
Hereditary diffuse leukoencephalopathy with spheroids 
Hereditary elliptocytosis 
Hereditary endotheliopathy, retinopathy, nephropathy, and stroke 
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis 
Hereditary folate malabsorption 
Hereditary fructose intolerance 
Hereditary geniospasm 
Hereditary hemorrhagic telangiectasia 
Hereditary hemorrhagic telangiectasia type 2 
Hereditary hemorrhagic telangiectasia type 3 
Hereditary hemorrhagic telangiectasia type 4 
Hereditary hyperekplexia 
Hereditary koilonychia 
Hereditary leiomyomatosis and renal cell cancer 
Hereditary lymphedema type II 
Hereditary methemoglobinemia 
Hereditary motor and sensory neuropathy type 5 
Hereditary mucoepithelial dysplasia 
Hereditary multiple osteochondromas 
Hereditary neuralgic amyotrophy 
Hereditary neuropathy with liability to pressure palsies 
Hereditary pancreatitis 
Hereditary paraganglioma-pheochromocytoma 
Hereditary proximal myopathy with early respiratory failure 
Hereditary sensorimotor neuropathy with hyperelastic skin 
Hereditary sensory and autonomic neuropathy type 1E 
Hereditary sensory and autonomic neuropathy type 2 
Hereditary sensory and autonomic neuropathy type 7 
Hereditary sensory and autonomic neuropathy type V 
Hereditary sensory neuropathy type 1 
Hereditary spherocytosis 
Hereditary vascular retinopathy 
Hermansky Pudlak syndrome 2 
Hermansky-Pudlak syndrome 
Hernández-Aguirre Negrete syndrome 
Herpes simplex encephalitis 
Heterochromia iridis - Not a rare disease 
HIBCH deficiency 
High molecular weight kininogen deficiency 
Hirschsprung disease polydactyly heart disease 
Hirschsprung disease type d brachydactyly 
Hirschsprung's disease 
His bundle tachycardia 
Histiocytosis-lymphadenopathy plus syndrome 
HMG CoA lyase deficiency 
Holocarboxylase synthetase deficiency 
Holoprosencephaly, recurrent infections, and monocytosis 
Holt-Oram syndrome 
Holzgreve syndrome 
Homocystinuria due to CBS deficiency 
Homocystinuria due to MTHFR deficiency 
Horizontal gaze palsy with progressive scoliosis 
Hoyeraal Hreidarsson syndrome 
Hunter Carpenter Macdonald syndrome 
Hunter Rudd Hoffmann syndrome 
Hunter-McAlpine syndrome 
Huntington disease 
Hurler syndrome 
Hurler–Scheie syndrome 
Hutterite cerebroosteonephrodysplasia syndrome 
Hyaline fibromatosis syndrome 
Hydrocephalus due to congenital stenosis of aqueduct of sylvius 
Hydrocephalus obesity hypogonadism 
Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly 
Hydrocephalus-cleft palate-joint contractures syndrome 
Hyper-IgD syndrome 
Hyperbilirubinemia transient familial neonatal 
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 
Hyperferritinemia cataract syndrome 
Hyperinsulinism due to glucokinase deficiency 
Hyperinsulinism-hyperammonemia syndrome 
Hyperkalemic periodic paralysis 
Hyperkeratosis lenticularis perstans 
Hyperlipidemia type 3 
Hyperlipoproteinemia type 5 
Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency 
Hypermobile Ehlers-Danlos syndrome 
Hyperostosis corticalis generalisata 
Hyperparathyroidism-jaw tumor syndrome 
Hyperphenylalaninemia due to dehydratase deficiency 
Hyperprolinemia type 2 
Hypertelorism and tetralogy of Fallot 
Hyperthermia induced defects 
Hypertrichosis lanuginosa congenita 
Hypertrophic neuropathy of Dejerine-Sottas 
Hypocalcemia, autosomal dominant 
Hypofibrinogenemia, familial 
Hypohidrotic ectodermal dysplasia autosomal recessive 
Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia 
Hypokalemic periodic paralysis 
Hypomandibular faciocranial dysostosis 
Hypomelanosis of Ito 
Hypomyelination and congenital cataract 
Hypomyelination with atrophy of basal ganglia and cerebellum 
Hypoparathyroidism-intellectual disability-dysmorphism syndrome 
Hypophosphatemic rickets 
Hypoplastic left heart syndrome 
Hypospadias familial 
Hypospadias-intellectual disability, Goldblatt type syndrome 
Hypotelorism cleft palate hypospadias 
Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response 
Hypotrichosis simplex 
Hypotrichosis-lymphedema-telangiectasia syndrome 
I cell disease 
IBIDS syndrome - See Trichothiodystrophy 
ICF syndrome 
Ichthyosiform erythroderma, corneal involvement, deafness 
Ichthyosis alopecia eclabion ectropion mental retardation 
Ichthyosis bullosa of Siemens 
Ichthyosis cheek eyebrow syndrome 
Ichthyosis follicularis atrichia photophobia syndrome 
Ichthyosis hystrix gravior 
Ichthyosis hystrix, Curth Macklin type 
Ichthyosis lamellar 1 
Ichthyosis lamellar 2 
Ichthyosis lamellar 3 
Ichthyosis lamellar, autosomal dominant 
Ichthyosis prematurity syndrome 
Ichthyosis tapered fingers midline groove up 
Ichthyosis with hypotrichosis, autosomal recessive 
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 
Ichthyosis, mental retardation, dwarfism and renal impairment 
Idiopathic basal ganglia calcification childhood-onset 
Idiopathic CD4 positive T-lymphocytopenia 
Iida Kannari syndrome 
IL12RB1 deficiency 
IMAGe syndrome 
Imerslund-Grasbeck syndrome 
Immune defect due to absence of thymus 
Immunodeficiency with hyper IgM type 1 
Immunodeficiency with hyper IgM type 2 
Immunodeficiency with hyper IgM type 3 
Immunodeficiency with hyper IgM type 4 
Immunodeficiency with hyper IgM type 5 
Immunodysregulation, polyendocrinopathy and enteropathy X-linked 
Imperforate oropharynx-costo vetebral anomalies 
Inclusion body myopathy 2 
Inclusion body myopathy 3 
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 
Incontinentia pigmenti 
Infantile axonal neuropathy 
Infantile cerebellar retinal degeneration 
Infantile choroidocerebral calcification syndrome 
Infantile convulsions and paroxysmal choreoathetosis, familial 
Infantile histiocytoid cardiomyopathy 
Infantile liver failure syndrome 1 
Infantile myofibromatosis 
Infantile neuroaxonal dystrophy 
Infantile onset spinocerebellar ataxia 
Infantile spasms broad thumbs 
Infantile-onset ascending hereditary spastic paralysis 
Infection-induced acute encephalopathy 3 
Insulin-like growth factor 1 resistance to 
Insulin-like growth factor I deficiency 
Insulin-resistance type B 
Intellectual deficit - short stature - hypertelorism 
Intellectual deficit Buenos-Aires type 
Intellectual disability - athetosis - microphthalmia 
Intellectual disability - hypoplastic corpus callosum - preauricular tag 
Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity 
Intellectual disability-developmental delay-contractures syndrome 
Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome 
Intellectual disability-severe speech delay-mild dysmorphism syndrome 
Intellectual disability-spasticity-ectrodactyly syndrome 
Intermediate congenital nemaline myopathy 
Intermediate severe Salla disease 
Internal carotid agenesis 
Intestinal atresia multiple 
Intrauterine growth retardation with increased mitomycin C sensitivity 
Intrinsic factor deficiency 
IRAK-4 deficiency 
Iridogoniodysgenesis and skeletal anomalies 
Iris hypoplasia and glaucoma 
Iron-refractory iron deficiency anemia 
Irons Bhan syndrome 
IRVAN syndrome 
Isobutyryl-CoA dehydrogenase deficiency 
Isodicentric chromosome 15 syndrome 
Isolated ACTH deficiency 
Isolated anterior cervical hypertrichosis 
Isolated congenital megalocornea 
Isolated ectopia lentis 
Isolated growth hormone deficiency type 1A 
Isolated growth hormone deficiency type 1B 
Isolated growth hormone deficiency type 2 
Isolated growth hormone deficiency type 3 
Isotretinoin embryopathy like syndrome 
Isovaleric acidemia 
Ivemark syndrome 
IVIC syndrome 
Jackson-Weiss syndrome 
Jacobsen syndrome 
Jansen type metaphyseal chondrodysplasia 
Jejunal atresia 
Jejunal atresia with renal adysplasia 
Jervell Lange-Nielsen syndrome 
Jeune syndrome 
Johanson-Blizzard syndrome 
Johnson Munson syndrome 
Johnson neuroectodermal syndrome 
Johnston Aarons Schelley syndrome 
Jones syndrome 
Joubert syndrome 
Joubert syndrome with oculorenal anomalies 
Juberg Marsidi syndrome 
Juberg-Hayward syndrome 
Junctional epidermolysis bullosa, Herlitz type - See Epidermolysis bullosa 
Junctional epidermolysis bullosa, non-Herlitz type - See Epidermolysis bullosa 
Juvenile amyotrophic lateral sclerosis 
Juvenile osteoporosis 
Juvenile Paget disease 
Juvenile polyposis syndrome 
Juvenile primary lateral sclerosis 
Juvenile retinoschisis 
Juvenile-onset dystonia 
Kabuki syndrome 
Kallmann syndrome 
Kallmann syndrome 1 
Kallmann syndrome 2 
Kanzaki disease 
Kaplan Plauchu Fitch syndrome 
Kaposi sarcoma 
Kaposiform Hemangioendothelioma 
Kapur Toriello syndrome 
Karak syndrome 
Kartagener syndrome 
Kaufman oculocerebrofacial syndrome 
KBG syndrome 
KCNQ2-Related Disorders 
Kearns-Sayre syndrome 
Kennedy disease 
Kenny-Caffey syndrome type 1 
Kenny-Caffey syndrome type 2 
Keratitis, hereditary 
Keratoderma palmoplantar deafness 
Keratoderma palmoplantar spastic paralysis 
Keratoderma palmoplantaris transgrediens 
Keratolytic winter erythema 
Keratosis follicularis dwarfism and cerebral atrophy 
Keratosis follicularis spinulosa decalvans 
Keutel syndrome 
KID syndrome 
Kindler syndrome 
King Denborough syndrome 
Kleeblattschaedel syndrome 
Kleine Levin syndrome 
Kleiner Holmes syndrome 
Klinefelter syndrome - Not a rare disease 
Klippel Feil syndrome 
Klippel-Trenaunay syndrome 
Kniest dysplasia 
Kniest like dysplasia lethal 
Kniest-like dysplasia with pursed lips and ectopia lentis 
Knobloch syndrome 
Knuckle pads, leuconychia and sensorineural deafness 
Kohlschutter Tonz syndrome 
Koolen de Vries syndrome 
Koone Rizzo Elias syndrome 
Kosztolanyi syndrome 
Kotzot-Richter syndrome 
Kowarski syndrome 
Kozlowski Warren Fisher syndrome 
Kozlowski-Krajewska syndrome 
Kuskokwim disease 
Kyphomelic dysplasia 
Kyphoscoliotic Ehlers-Danlos syndrome 
L-2-hydroxyglutaric aciduria 
L-arginine:glycine amidinotransferase deficiency 
Laband syndrome 
Lachiewicz Sibley syndrome 
Lacrimo-auriculo-dento-digital syndrome 
Lafora disease 
Laing distal myopathy 
Lambdoid synostosis 
Lambert syndrome 
Lamellar ichthyosis 
Landau-Kleffner syndrome 
Langer mesomelic dysplasia 
Laron syndrome 
Larsen syndrome 
Larsen-like syndrome 
Laryngoonychocutaneous syndrome - See Epidermolysis bullosa 
Larynx atresia 
Larynx, congenital partial atresia of 
Late-onset distal myopathy, Markesbery-Griggs type 
Late-onset junctional epidermolysis bullosa - See Junctional epidermolysis bullosa 
Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome 
Late-onset retinal degeneration 
Lateral meningocele syndrome 
Lateral semicircular canal malformation, familial, with external and middle ear abnormalities 
Lattice corneal dystrophy type 1 
Laurence-Moon syndrome 
Laurin-Sandrow syndrome 
LCHAD deficiency 
Le Marec Bracq Picaud syndrome 
Leber congenital amaurosis 
Leber congenital amaurosis 5 - See Leber congenital amaurosis 
Leber hereditary optic neuropathy 
Leber hereditary optic neuropathy with dystonia 
Left ventricular noncompaction 
Left-sided gallbladder 
Legg-Calve-Perthes disease 
Legius syndrome 
Leigh syndrome 
Leigh syndrome, French Canadian type 
Leisti Hollister Rimoin syndrome 
Lelis syndrome 
Lennox-Gastaut syndrome 
Lenz Majewski hyperostotic dwarfism 
Lenz microphthalmia syndrome 
LEOPARD syndrome 
Leri pleonosteosis 
Leri Weill dyschondrosteosis 
Lesch Nyhan syndrome 
Lethal chondrodysplasia Moerman type 
Lethal chondrodysplasia Seller type 
Lethal congenital contracture syndrome 1 
Lethal congenital contracture syndrome 2 
Lethal congenital contracture syndrome 3 - See Lethal congenital contracture syndrome 
Lethal short limb skeletal dysplasia Al Gazali type 
Leukocyte adhesion deficiency type 1 
Leukoencephalopathy - dystonia - motor neuropathy 
Leukoencephalopathy palmoplantar keratoderma 
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation 
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 
Leukoencephalopathy with vanishing white matter 
Leukonychia totalis 
Levic Stefanovic Nikolic syndrome 
Levy-Yeboa syndrome 
Lhermitte-Duclos disease 
Li-Fraumeni syndrome 
Lichtenstein syndrome 
Liddle syndrome 
Ligneous conjunctivitis 
Limb deficiencies distal with micrognathia 
Limb-body wall complex 
Limb-girdle muscular dystrophy type 1A 
Limb-girdle muscular dystrophy type 1B 
Limb-girdle muscular dystrophy type 1C - See Limb-girdle muscular dystrophy 
Limb-girdle muscular dystrophy type 1D - See Limb-girdle muscular dystrophy 
Limb-girdle muscular dystrophy type 1E - See Limb-girdle muscular dystrophy 
Limb-girdle muscular dystrophy type 1F - See Limb-girdle muscular dystrophy 
Limb-girdle muscular dystrophy type 1G - See Limb-girdle muscular dystrophy 
Limb-girdle muscular dystrophy type 1H - See Limb-girdle muscular dystrophy 
Limb-girdle muscular dystrophy type 2A 
Limb-girdle muscular dystrophy type 2B 
Limb-girdle muscular dystrophy type 2E 
Limb-girdle muscular dystrophy type 2F 
Limb-girdle muscular dystrophy type 2H 
Limb-girdle muscular dystrophy type 2I 
Limb-girdle muscular dystrophy type 2J - See Limb-girdle muscular dystrophy 
Limb-girdle muscular dystrophy type 2K - See Limb-girdle muscular dystrophy 
Limb-girdle muscular dystrophy type 2L - See Limb-girdle muscular dystrophy 
Limb-girdle muscular dystrophy type 2M - See Limb-girdle muscular dystrophy 
Limb-girdle muscular dystrophy type 2N - See Limb-girdle muscular dystrophy 
Limb-girdle muscular dystrophy type 2O - See Limb-girdle muscular dystrophy 
Limb-girdle muscular dystrophy type 2P - See Limb-girdle muscular dystrophy type 1A 
Limb-girdle muscular dystrophy type 2Q - See Limb-girdle muscular dystrophy 
Limb-girdle muscular dystrophy type 2S - See Limb-girdle muscular dystrophy 
Limb-girdle muscular dystrophy type 2T - See Limb-girdle muscular dystrophy 
Limb-girdle muscular dystrophy, type 2C 
Limb-girdle muscular dystrophy, type 2D 
Limb-girdle muscular dystrophy, type 2G 
Limb-mammary syndrome 
Lin-Gettig syndrome 
Linear and whorled nevoid hypermelanosis 
Linear nevus sebaceous syndrome 
LIPE-related familial partial lipodystrophy - See Familial partial lipodystrophy 
Lipedema - Not a rare disease 
Lipodystrophy due to peptidic growth factors deficiency 
Lipodystrophy, familial partial, type 5 - See Familial partial lipodystrophy 
Lipoic acid synthetase deficiency 
Lipoid proteinosis of Urbach and Wiethe 
Lissencephaly 2 
Localized junctional epidermolysis bullosa, non-Herlitz type - See Junctional epidermolysis bullosa 
Loeys-Dietz syndrome 
Loeys-Dietz syndrome type 1 
Loeys-Dietz syndrome type 2 
Loeys-Dietz syndrome type 3 
Loeys-Dietz syndrome type 4 
Long QT syndrome 1 
Loose anagen hair syndrome 
Lopes Gorlin syndrome 
Lowe oculocerebrorenal syndrome 
Lowry Maclean syndrome 
Lowry Wood syndrome 
LRBA deficiency 
Lubinsky syndrome 
Lucey-Driscoll syndrome 
Lujan syndrome 
Lumbar malsegmentation short stature 
Lung agenesis 
Lymphedema and cerebral arteriovenous anomaly 
Lymphedema, microcephaly and chorioretinopathy syndrome 
Lymphedema-distichiasis syndrome 
Lynch syndrome - Not a rare disease 
Lysinuric protein intolerance 
Mac Dermot Winter syndrome 
Macrocephaly mesodermal hamartoma spectrum 
Macrocephaly, benign familial 
Macrocephaly-short stature-paraplegia syndrome 
Macrodactyly of the foot 
Macrodactyly of the hand 

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