Congenital and Genetic Diseases
DK phocomelia syndrome
DOLK-CDG (CDG-Im)
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
DPAGT1-CDG (CDG-Ij)
DPM1-CDG (CDG-Ie)
DPM2-CDG
DPM3-CDG (CDG-Io)
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
Dysfibrinogenemia
Dyskeratosis congenita
Dyskeratosis congenita autosomal dominant
Dyskeratosis congenita autosomal recessive
Dyskeratosis congenita X-linked
Dysosteosclerosis
Dysplasia epiphysealis hemimelica
Dyssegmental dysplasia and glaucoma
Dyssegmental dysplasia Rolland-Desbuquois type
Dyssegmental dysplasia Silverman-Handmaker type
Dystelephalangy
Dystonia 2, torsion, autosomal recessive
DYT-PRKRA
DYT-THAP1
DYT-TOR1A
DYT-TUBB4A
DYT/PARK-GCH1
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
Encephalocele
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
Erythromelalgia
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
Fibrochondrogenesis
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
Fucosidosis
Fuhrmann syndrome
Fukuyama type muscular dystrophy
Fumarase deficiency
Fused mandibular incisors
Galactokinase deficiency
Galactosemia
Galactosialidosis
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
Gastroschisis
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
Genochondromatosis
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
Globozoospermia
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
Glutathionuria
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
Hawkinsinuria
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
Hemimegalencephaly
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
Heterotaxy
HIBCH deficiency
High molecular weight kininogen deficiency
Hirschsprung disease polydactyly heart disease
Hirschsprung disease type d brachydactyly
Hirschsprung's disease
His bundle tachycardia
Histidinemia
Histiocytosis-lymphadenopathy plus syndrome
HMG CoA lyase deficiency
Holocarboxylase synthetase deficiency
Holoprosencephaly, recurrent infections, and monocytosis
Holt-Oram syndrome
Holzgreve syndrome
Homocarnosinosis
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
Hydranencephaly
Hydrocephalus due to congenital stenosis of aqueduct of sylvius
Hydrocephalus obesity hypogonadism
Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly
Hydrocephalus-cleft palate-joint contractures syndrome
Hydroxykynureninuria
Hyper-IgD syndrome
Hyperbetaalaninemia
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
Hyperlysinemia
Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
Hypermobile Ehlers-Danlos syndrome
Hyperostosis corticalis generalisata
Hyperparathyroidism-jaw tumor syndrome
Hyperphenylalaninemia due to dehydratase deficiency
Hyperprolinemia
Hyperprolinemia type 2
Hypertelorism and tetralogy of Fallot
Hyperthermia induced defects
Hypertrichosis lanuginosa congenita
Hypertrophic neuropathy of Dejerine-Sottas
Hypertryptophanemia
Hypocalcemia, autosomal dominant
Hypochondroplasia
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
Iminoglycinuria
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
Iniencephaly
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
Kernicterus
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
Laryngomalacia
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
Lathosterolosis
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
Leprechaunism
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
Leukodystrophy
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
Lymphangioleiomyomatosis
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
DOLK-CDG (CDG-Im)
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
DPAGT1-CDG (CDG-Ij)
DPM1-CDG (CDG-Ie)
DPM2-CDG
DPM3-CDG (CDG-Io)
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
Dysfibrinogenemia
Dyskeratosis congenita
Dyskeratosis congenita autosomal dominant
Dyskeratosis congenita autosomal recessive
Dyskeratosis congenita X-linked
Dysosteosclerosis
Dysplasia epiphysealis hemimelica
Dyssegmental dysplasia and glaucoma
Dyssegmental dysplasia Rolland-Desbuquois type
Dyssegmental dysplasia Silverman-Handmaker type
Dystelephalangy
Dystonia 2, torsion, autosomal recessive
DYT-PRKRA
DYT-THAP1
DYT-TOR1A
DYT-TUBB4A
DYT/PARK-GCH1
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
Encephalocele
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
Erythromelalgia
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
Fibrochondrogenesis
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
Fucosidosis
Fuhrmann syndrome
Fukuyama type muscular dystrophy
Fumarase deficiency
Fused mandibular incisors
Galactokinase deficiency
Galactosemia
Galactosialidosis
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
Gastroschisis
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
Genochondromatosis
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
Globozoospermia
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
Glutathionuria
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
Hawkinsinuria
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
Hemimegalencephaly
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
Heterotaxy
HIBCH deficiency
High molecular weight kininogen deficiency
Hirschsprung disease polydactyly heart disease
Hirschsprung disease type d brachydactyly
Hirschsprung's disease
His bundle tachycardia
Histidinemia
Histiocytosis-lymphadenopathy plus syndrome
HMG CoA lyase deficiency
Holocarboxylase synthetase deficiency
Holoprosencephaly, recurrent infections, and monocytosis
Holt-Oram syndrome
Holzgreve syndrome
Homocarnosinosis
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
Hydranencephaly
Hydrocephalus due to congenital stenosis of aqueduct of sylvius
Hydrocephalus obesity hypogonadism
Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly
Hydrocephalus-cleft palate-joint contractures syndrome
Hydroxykynureninuria
Hyper-IgD syndrome
Hyperbetaalaninemia
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
Hyperlysinemia
Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
Hypermobile Ehlers-Danlos syndrome
Hyperostosis corticalis generalisata
Hyperparathyroidism-jaw tumor syndrome
Hyperphenylalaninemia due to dehydratase deficiency
Hyperprolinemia
Hyperprolinemia type 2
Hypertelorism and tetralogy of Fallot
Hyperthermia induced defects
Hypertrichosis lanuginosa congenita
Hypertrophic neuropathy of Dejerine-Sottas
Hypertryptophanemia
Hypocalcemia, autosomal dominant
Hypochondroplasia
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
Iminoglycinuria
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
Iniencephaly
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
Kernicterus
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
Laryngomalacia
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
Lathosterolosis
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
Leprechaunism
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
Leukodystrophy
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
Lymphangioleiomyomatosis
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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