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
Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance
Macroglossia
Macrosomia with lethal microphthalmia
Macrozoospermia
Macular dystrophy, corneal type 1
Macules hereditary congenital hypopigmented and hyperpigmented
Madokoro Ohdo Sonoda syndrome
Maffucci syndrome
Majeed syndrome
Male pseudohermaphroditism due to defective LH molecule
Male pseudohermaphroditism intellectual disability syndrome, Verloes type
Malignant hyperthermia
Malignant hyperthermia arthrogryposis torticollis
Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 2
Malignant hyperthermia susceptibility type 3
Malignant hyperthermia susceptibility type 4
Malignant hyperthermia susceptibility type 5
Malignant hyperthermia susceptibility type 6
Malignant migrating partial seizures of infancy
Malonyl-CoA decarboxylase deficiency
MAN1B1-CDG
Mandibuloacral dysplasia with type A lipodystrophy
Mandibuloacral dysplasia with type B lipodystrophy
Mandibulofacial dysostosis with microcephaly
Manitoba oculotrichoanal syndrome
Mannosidosis, beta A, lysosomal
Manouvrier syndrome
Marden Walker like syndrome
Marden-Walker syndrome
Marfan syndrome
Marfanoid habitus-autosomal recessive intellectual disability syndrome
Marie Unna congenital hypotrichosis
Marinesco-Sjogren syndrome
Marshall syndrome
Marshall-Smith syndrome
Martsolf syndrome
Mastocytosis cutaneous with short stature conductive hearing loss and microtia
Maternal hyperphenylalaninemia
Maternally inherited diabetes and deafness
Maturity-onset diabetes of the young
Maturity-onset diabetes of the young, type 1 - See Maturity-onset diabetes of the young
Maturity-onset diabetes of the young, type 2 - See Maturity-onset diabetes of the young
Maturity-onset diabetes of the young, type 3 - See Maturity-onset diabetes of the young
Maturity-onset diabetes of the young, type 4 - See Maturity-onset diabetes of the young
Maturity-onset diabetes of the young, type 5 - See Maturity-onset diabetes of the young
Maturity-onset diabetes of the young, type 6 - See Maturity-onset diabetes of the young
Maturity-onset diabetes of the young, type 7 - See Maturity-onset diabetes of the young
Maturity-onset diabetes of the young, type 8 - See Maturity-onset diabetes of the young
Maturity-onset diabetes of the young, type 9 - See Maturity-onset diabetes of the young
Maxillonasal dysplasia, Binder type
McCune-Albright syndrome
McDonough syndrome
McKusick Kaufman syndrome
McLeod neuroacanthocytosis syndrome
McPherson Clemens syndrome
Meacham Winn Culler syndrome
Meckel syndrome
MECP2 duplication syndrome
Medeira-Dennis-Donnai syndrome
Median cleft of upper lip with polyps of facial skin and nasal mucosa
Median nodule of the upper lip
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medrano Roldan syndrome
Medulloblastoma
Meesmann corneal dystrophy
Megacystis microcolon intestinal hypoperistalsis syndrome
Megaduodenum and/or megacystis
Megaepiphyseal dwarfism
Megalencephalic leukoencephalopathy with subcortical cysts
Megalencephaly-capillary malformation syndrome
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome
Megaloblastic anemia due to dihydrofolate reductase deficiency
Megalocornea - spherophakia - secondary glaucoma
Megalocornea-intellectual disability syndrome
Megarbane Jalkh syndrome
Megarbane syndrome
Mehes syndrome
Mehta Lewis Patton syndrome
Meier-Gorlin syndrome
Meige syndrome
Meleda disease
Melnick-Needles syndrome
Melorheostosis
Melorheostosis with osteopoikilosis
Meningocele
Menkes disease
Mental retardation skeletal dysplasia abducens palsy
Mental retardation Smith Fineman Myers type
Mental retardation X-linked syndromic 7
Mental retardation, keratoconus, febrile seizures, and sinoatrial block
Mental retardation, X-linked 14
Mesomelia-synostoses syndrome
Mesomelic dwarfism cleft palate camptodactyly
Mesomelic dwarfism of hypoplastic tibia and radius type
Mesomelic dysplasia Kantaputra type
Mesomelic dysplasia Savarirayan type
Metacarpals 4 and 5 fusion
Metachondromatosis
Metaphyseal acroscyphodysplasia
Metaphyseal chondrodysplasia Schmid type
Metaphyseal chondrodysplasia Spahr type
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
Metaphyseal dysplasia maxillary hypoplasia brachydactyly
Metaphyseal dysplasia without hypotrichosis
Metaphyseal undermodeling, spondylar dysplasia, and overgrowth
Metatropic dysplasia
Methemoglobinemia, beta-globin type
Methimazole antenatal exposure
Methionine adenosyltransferase deficiency
Methylcobalamin deficiency cbl G type
Methylmalonic acidemia and homocysteinemia type cblX
Methylmalonic acidemia with homocystinuria type cblC
Methylmalonic acidemia with homocystinuria type cblD
Methylmalonic acidemia with homocystinuria type cblF
Methylmalonic acidemia with homocystinuria type cblJ
Methylmalonic aciduria, cblA type
Methylmalonic aciduria, cblB type
Mevalonic aciduria
MGAT2-CDG (CDG-IIa)
Michels Caskey syndrome
Micro syndrome
Microbrachycephaly ptosis cleft lip
Microcephalic osteodysplastic primordial dwarfism type 1
Microcephalic osteodysplastic primordial dwarfism type 2
Microcephalic primordial dwarfism Toriello type
Microcephalic primordial dwarfism, Montreal type
Microcephaly autosomal dominant
Microcephaly brain defect spasticity hypernatremia
Microcephaly cervical spine fusion anomalies
Microcephaly deafness syndrome
Microcephaly glomerulonephritis Marfanoid habitus
Microcephaly microcornea syndrome Seemanova type
Microcephaly micropenis convulsions
Microcephaly microphthalmos blindness
Microcephaly nonsyndromal
Microcephaly, seizures, and developmental delay - See Early Infantile Epileptic Encephalopathy
Microcephaly-albinism-digital anomalies syndrome
Microcephaly-cardiomyopathy
Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome
Microcystic lymphatic malformation
Microduplication Xp11.22-p11.23 syndrome
Microgastria limb reduction defect
Microhydranencephaly
Microphthalmia associated with colobomatous cyst
Microphthalmia syndromic 10
Microphthalmia syndromic 4
Microphthalmia syndromic 5
Microphthalmia syndromic 6
Microphthalmia syndromic 8
Microphthalmia syndromic 9
Microphthalmia with linear skin defects syndrome
Microsomia hemifacial radial defects
Microtia eye coloboma and imperforation of the nasolacrimal duct
Microtia, meatal atresia and conductive deafness
Microtia-Anotia
Microvillus inclusion disease
Midphalangeal hair
Mild phenylketonuria
Miller syndrome
Miller-Dieker syndrome
Milner Khallouf Gibson syndrome
Milroy disease
Minicore myopathy with external ophthalmoplegia
Minicore myopathy, antenatal onset, with arthrogryposis
Mitochondrial complex I deficiency
Mitochondrial complex II deficiency
Mitochondrial complex III deficiency
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Mitochondrial DNA-associated Leigh syndrome
Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
Mitochondrial genetic disorders
Mitochondrial Membrane Protein-Associated Neurodegeneration
Mitochondrial myopathy with diabetes
Mitochondrial myopathy with lactic acidosis
Mitochondrial neurogastrointestinal encephalopathy syndrome
Mitochondrial trifunctional protein deficiency
Mitral atresia
Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones
Mitral valve prolapse, familial, autosomal dominant
Miyoshi myopathy
Moebius syndrome
MOGS-CDG (CDG-IIb)
Mohr-Tranebjaerg syndrome
Moloney syndrome
Molybdenum cofactor deficiency
MOMO syndrome
Monilethrix
Monoamine oxidase A deficiency
Morgagni-Stewart-Morel syndrome
MORM syndrome
Morning glory syndrome
Morse-Rawnsley-Sargent syndrome
Mosaic trisomy 14
Mosaic trisomy 22
Mosaic trisomy 8
Mosaic trisomy 9
Mosaic variegated aneuploidy syndrome
Mounier-Kuhn syndrome
Mousa Al din Al Nassar syndrome
Mowat-Wilson syndrome
Moyamoya disease
MPDU1-CDG (CDG-If)
MPI-CDG (CDG-Ib)
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
Muckle-Wells syndrome
Mucolipidosis III alpha/beta
Mucolipidosis type 4
Mucopolysaccharidosis type III
Mucopolysaccharidosis type IIIA
Mucopolysaccharidosis type IIIB
Mucopolysaccharidosis type IIIC
Mucopolysaccharidosis type IIID
Mucopolysaccharidosis type IV
Mucopolysaccharidosis type IVA
Mucopolysaccharidosis type VII
Muenke Syndrome
Muir-Torre syndrome
Mulibrey Nanism
Muller Barth Menger syndrome
Multicentric carpotarsal osteolysis syndrome
Multicentric osteolysis nephropathy
Multicystic renal dysplasia, bilateral
Multiple congenital anomalies-hypotonia-seizures syndrome
Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Multiple epiphyseal dysplasia 1
Multiple epiphyseal dysplasia 2
Multiple epiphyseal dysplasia 3
Multiple epiphyseal dysplasia 4
Multiple epiphyseal dysplasia 5
Multiple familial trichoepithelioma
Multiple familial trichoepithelioma 1 - See Multiple familial trichoepithelioma
Multiple familial trichoepithelioma 2 - See Multiple familial trichoepithelioma
Multiple fibrofolliculoma familial
Multiple pterygium syndrome Escobar type
Multiple pterygium syndrome lethal type
Multiple pterygium syndrome X-linked
Multiple sulfatase deficiency
Multiple symmetric lipomatosis
Multiple synostoses syndrome 1
Multiple synostoses syndrome 2
Multiple system atrophy
Multisystemic smooth muscle dysfunction syndrome
Mungan syndrome
MURCS association
Muscle eye brain disease
Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus
Muscular dystrophy white matter spongiosis
Muscular dystrophy, congenital, megaconial type
Muscular phosphorylase kinase deficiency
Musculocontractural Ehlers-Danlos syndrome
MYD88 deficiency
Myelocerebellar disorder
MYH7-related scapuloperoneal myopathy
Myhre syndrome
Myoclonic epilepsy with ragged red fibers
Myoclonus cerebellar ataxia deafness
Myoclonus hereditary progressive distal muscular atrophy
Myoclonus-dystonia
Myoglobinuria recurrent
Myokymia with neonatal epilepsy
Myopathic carnitine deficiency
Myopathy with extrapyramidal signs
Myosin storage myopathy
Myotonia congenita
Myotonic dystrophy type 1
Myotonic dystrophy type 2
N syndrome
N-acetylglutamate synthase deficiency
Nablus mask-like facial syndrome
Naegeli syndrome
Nager acrofacial dysostosis
Naguib-Richieri-Costa syndrome
Nail dysplasia, isolated congenital
Nail-patella syndrome
Nakajo Nishimura syndrome
Nakajo syndrome
Nance-Horan syndrome
Nasodigitoacoustic syndrome
Nathalie syndrome
Native American myopathy
Naxos disease
NBIA/DYT/PARK-PLA2G6
Neonatal adrenoleukodystrophy
Neonatal hemochromatosis
Neonatal intrahepatic cholestasis caused by citrin deficiency
Neonatal Onset Multisystem Inflammatory disease
Neonatal progeroid syndrome
Neonatal severe hyperparathyroidism
Nephrogenic diabetes insipidus
Nephropathic cystinosis
Nephropathy, deafness, and hyperparathyroidism
Nestor-guillermo progeria syndrome
Netherton syndrome
Neu Laxova syndrome
Neural tube defects - Not a rare disease
Neurofaciodigitorenal syndrome
Neuroferritinopathy
Neurofibromatosis type 2
Neurofibromatosis-Noonan syndrome
Neuronal ceroid lipofuscinosis 10
Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis 6
Neuronal ceroid lipofuscinosis 7
Neuronal ceroid lipofuscinosis 9
Neuronal intranuclear inclusion disease
Neuropathy ataxia retinitis pigmentosa syndrome
Neuropathy, congenital, with arthrogryposis multiplex
Neuropathy, distal hereditary motor, Jerash type
Neuropathy, hereditary motor and sensory, Okinawa type
Neuropathy, hereditary motor and sensory, Russe type
Neutral lipid storage disease with myopathy
Neutrophil-specific granule deficiency
Nevoid basal cell carcinoma syndrome
Nevus comedonicus syndrome
Nguyen syndrome
Nicolaides-Baraitser syndrome
Niemann-Pick disease type A
Niemann-Pick disease type B
Niemann-Pick disease type C1
Niemann-Pick disease type C2
Nievergelt syndrome
Night blindness-skeletal anomalies-dysmorphism syndrome
Nijmegen breakage syndrome
Non-involuting congenital hemangioma
Nonbullous congenital ichthyosiform erythroderma
Nonspherocytic hemolytic anemia due to hexokinase deficiency
Nonsyndromic hereditary sensorineural hearing loss
Noonan syndrome
Noonan syndrome 1 - See Noonan syndrome
Noonan syndrome 2 - See Noonan syndrome
Noonan syndrome 3 - See Noonan syndrome
Noonan syndrome 4 - See Noonan syndrome
Noonan syndrome 5 - See Noonan syndrome
Noonan syndrome 6 - See Noonan syndrome
Noonan-like syndrome with loose anagen hair
Norrie disease
North Carolina macular dystrophy
Northern epilepsy
Not otherwise specified 3-MGA-uria type
Novak syndrome
Obesity due to congenital leptin deficiency
Occipital horn syndrome
Ochoa syndrome
Ocular albinism type 1
Oculo skeletal renal syndrome
Oculoauriculofrontonasal syndrome
Oculocerebral syndrome with hypopigmentation
Oculocerebrocutaneous syndrome
Oculocutaneous albinism type 1
Oculocutaneous albinism type 1B
Oculocutaneous albinism type 2
Oculocutaneous albinism type 3
Oculodentodigital dysplasia
Oculoectodermal syndrome
Oculofaciocardiodental syndrome
Oculomaxillofacial dysostosis
Oculomotor apraxia Cogan type
Oculopharyngeal muscular dystrophy
Oculopharyngodistal myopathy
Oculorenocerebellar syndrome
Odonto onycho dysplasia with alopecia
Odontoma dysphagia syndrome
Odontomicronychial dysplasia
Odontoonychodermal dysplasia
Odontotrichomelic syndrome
Oguchi disease
Okamoto syndrome
Oligodactyly tetramelic postaxial
Oligomeganephronic renal hypoplasia
Oliver syndrome
Olivopontocerebellar atrophy deafness
Ollier disease
Olmsted syndrome
Omenn syndrome
Omodysplasia 1
Omodysplasia 2
Omphalocele cleft palate syndrome lethal
Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex
Omphalomesenteric cyst
Onychodystrophy-anonychia
Onychotrichodysplasia and neutropenia
OPA3 defect
OPHN1 syndrome
Opsismodysplasia
Optic atrophy 1
Optic atrophy 1 and deafness
Optic atrophy 2
Optic atrophy polyneuropathy deafness
Ornithine transcarbamylase deficiency
Ornithine translocase deficiency syndrome
Orofaciodigital syndrome 1
Orofaciodigital syndrome 10
Orofaciodigital syndrome 11
Orofaciodigital syndrome 12
Orofaciodigital syndrome 13
Orofaciodigital syndrome 2
Orofaciodigital syndrome 3
Orofaciodigital syndrome 4
Orofaciodigital syndrome 5
Orofaciodigital syndrome 6
Orofaciodigital syndrome 8
Orofaciodigital syndrome 9
Orofaciodigital syndromes
Orotic aciduria type 1
Orstavik Lindemann Solberg syndrome
Orthostatic intolerance due to NET deficiency
Oslam syndrome
OSMED Syndrome
Ossicular Malformations, familial
Osteoarthropathy of fingers familial
Osteodysplasia familial Anderson type
Osteofibrous dysplasia
Osteogenesis imperfecta
Osteogenesis imperfecta Levin type
Osteogenesis imperfecta type I
Osteogenesis imperfecta type II
Osteogenesis imperfecta type III
Osteogenesis imperfecta type IV
Osteogenesis imperfecta type IX
Osteogenesis imperfecta type V
Osteogenesis imperfecta type VI
Osteogenesis imperfecta type VII
Osteogenesis imperfecta type VIII
Osteoglophonic dysplasia
Osteolysis syndrome recessive
Osteomesopyknosis
Osteopathia striata cranial sclerosis
Osteopathia striata with pigmentary dermopathy including white forelock
Osteopenia and sparse hair
Osteopetrosis
Osteopetrosis and infantile neuroaxonal dystrophy
Osteopetrosis autosomal dominant type 1
Osteopetrosis autosomal dominant type 2
Osteopetrosis autosomal recessive 1
Osteopetrosis autosomal recessive 2
Osteopetrosis autosomal recessive 3
Osteopetrosis autosomal recessive 4
Osteopetrosis autosomal recessive 5
Osteopetrosis autosomal recessive 6
Osteopetrosis autosomal recessive 7
Osteopoikilosis and dacryocystitis
Osteoporosis oculocutaneous hypopigmentation syndrome
Osteoporosis-pseudoglioma syndrome
Ostium secundum atrial septal defect
Oto-palato-digital syndrome type 1
Oto-palato-digital syndrome type 2
Otodental dysplasia
Otofaciocervical syndrome
Otoonychoperoneal syndrome
Ouvrier Billson syndrome
Pachydermoperiostosis
Pachygyria
Pachygyria, frontotemporal
Pachygyria-intellectual disability-epilepsy syndrome
Pachyonychia congenita
Pacman dysplasia
PACS1-related syndrome
PAGOD syndrome
Pagon Stephan syndrome
Paine syndrome
Palant cleft palate syndrome
Palatopharyngeal incompetence
Pallidopyramidal syndrome
Pallister W syndrome
Pallister-Hall syndrome
Pallister-Killian mosaic syndrome
Palmer Pagon syndrome
Palmoplantar keratoderma-sclerodactyly syndrome
Pancreatic cancer - Not a rare disease
Panhypopituitarism X-linked
Panostotic fibrous dysplasia
Papillary renal cell carcinoma
Papillon Lefevre syndrome
Paraganglioma and gastric stromal sarcoma
Paramyotonia congenita
Parastremmatic dwarfism
PARC syndrome
Paris-Trousseau thrombocytopenia
Parkes Weber syndrome
Parkinson disease type 9
Paroxysmal exertion-induced dyskinesia
Paroxysmal extreme pain disorder
Paroxysmal kinesigenic choreoathetosis
Paroxysmal nocturnal hemoglobinuria
Paroxysmal ventricular fibrillation
Paroxysomal nonkinesigenic dyskinesia
Partial androgen insensitivity syndrome
Partington syndrome
PASLI disease
Passos-Bueno syndrome
Paternal uniparental disomy of chromosome 14
Patterson-Stevenson-Fontaine syndrome
PCDH19-related female-limited epilepsy
Pearson syndrome
Pectus carinatum
PEHO syndrome
Pelger-Huet anomaly
Pelvic dysplasia arthrogryposis of lower limbs
Pendred syndrome
Pentalogy of Cantrell
Pentosuria
Periodic fever, aphthous stomatitis, pharyngitis and adenitis
Periodontal Ehlers-Danlos syndrome
Peripheral resistance to thyroid hormones
Periventricular heterotopia
Perlman syndrome
Permanent neonatal diabetes mellitus
Peroxisomal biogenesis disorders
Perrault syndrome
Perry syndrome
Persistent Mullerian duct syndrome
Peters plus syndrome
Petit-Fryns syndrome
Peutz-Jeghers syndrome
Pfeiffer Mayer syndrome
Pfeiffer Palm Teller syndrome
Pfeiffer syndrome
Pfeiffer Tietze Welte syndrome
PGM1-CDG
PGM3-CDG
PHACE syndrome
PHAVER syndrome
Phenobarbital antenatal exposure
Pheochromocytoma
Phocomelia ectrodactyly deafness sinus arrhythmia
Phosphoglycerate kinase deficiency
Phosphoglycerate mutase deficiency
Phosphoserine aminotransferase deficiency
Piebaldism
Pierre Robin sequence
Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
Pierson syndrome
Pili annulati
Pili torti
Pili torti developmental delay neurological abnormalities
Pillay syndrome
Pilodental dysplasia with refractive errors
Pinheiro Freire-Maia Miranda syndrome
Pitt-Hopkins syndrome
Pitt-Hopkins-like syndrome
Pituitary dwarfism with large sella turcica
Pituitary hormone deficiency, combined 3
Pituitary hormone deficiency, combined 4
Pituitary stalk interruption syndrome
Pityriasis rubra pilaris
Plagiocephaly
Plasminogen activator inhibitor type 1 deficiency
Platyspondylic lethal skeletal dysplasia Torrance type
PMM2-CDG (CDG-Ia)
Poikiloderma with neutropenia
Poland syndrome
POLR3-Related Leukodystrophy
Polycystic kidney disease - Not a rare disease
Polycystic kidneys, severe infantile with tuberous sclerosis
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Polycystic liver disease
Polydactyly
Polydactyly myopia syndrome
Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
Polyosteolysis/hyperostosis syndrome
Polyostotic osteolytic dysplasia, hereditary expansile
Polysyndactyly cardiac malformation
Pontine tegmental cap dysplasia
Pontocerebellar hypoplasia type 1
Pontocerebellar hypoplasia type 2
Pontocerebellar hypoplasia type 3
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 5
Pontocerebellar hypoplasia type 6
Popliteal pterygium syndrome
Popliteal pterygium syndrome, Bartsocas-Papas type
Porokeratosis of Mibelli
Porokeratosis, disseminated superficial actinic 2
Porphyria cutanea tarda
Posterior column ataxia with retinitis pigmentosa
Postnatal progressive microcephaly, seizures, and brain atrophy
Potassium aggravated myotonia
Potato nose
Potocki-Lupski syndrome
Potocki-Shaffer syndrome
Potter sequence
PPM-X syndrome
Prader-Willi habitus, osteopenia, and camptodactyly
Prader-Willi syndrome
Preaxial deficiency, postaxial polydactyly and hypospadias
Preaxial polydactyly type 1
Preaxial polydactyly type 2
Preaxial polydactyly type 3
Preaxial polydactyly type 4
Prekallikrein deficiency, congenital
Pretibial epidermolysis bullosa
Primary angiitis of the central nervous system
Primary basilar impression
Primary carnitine deficiency
Primary ciliary dyskinesia
Primary familial and congenital polycythemia
Primary Familial Brain Calcification
Primary Fanconi syndrome
Primary hyperoxaluria type 1
Primary hyperoxaluria type 2
Primary hypomagnesemia with secondary hypocalcemia
Primary intestinal lymphangiectasia
Primary lateral sclerosis
Primary open angle glaucoma juvenile onset 1
Primary pigmented nodular adrenocortical disease
Primrose syndrome
Progeria
Progeroid short stature with pigmented nevi
Progeroid syndrome Petty type
Prognathism mandibular
Progressive bifocal chorioretinal atrophy
Progressive deafness with stapes fixation
Progressive external ophthalmoplegia, autosomal recessive 1
Progressive familial heart block type 1A
Progressive familial heart block type 1B
Progressive familial heart block type 2
Progressive familial intrahepatic cholestasis 1
Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 3
Progressive non-fluent aphasia
Progressive osseous heteroplasia
Progressive pseudorheumatoid dysplasia
Prolidase deficiency
Proopiomelanocortin deficiency
Propionic acidemia
Protein C deficiency - Not a rare disease
Proteus syndrome
Proteus-like syndrome
Prothrombin deficiency
Proud syndrome
Proximal chromosome 18q deletion syndrome
Proximal symphalangism
Prune belly syndrome
Pseudo Pelger-Huet anomaly
Pseudo-Von Willebrand disease
Pseudoachondroplasia
Pseudoaminopterin syndrome
Pseudocholinesterase deficiency
Pseudodiastrophic dysplasia
Pseudohypoaldosteronism type 2
Pseudohypoparathyroidism type 1A
Pseudohypoparathyroidism type 1B
Pseudohypoparathyroidism type 1C
Pseudohypoparathyroidism type 2
Pseudomarfanism
Pseudoneonatal adrenoleukodystrophy
Pseudoprogeria syndrome
Pseudopseudohypoparathyroidism
Pseudotrisomy 13 syndrome
Pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Pterygium colli mental retardation digital anomalies
Ptosis strabismus ectopic pupils
Pulmonary alveolar microlithiasis
Pulmonary arterio-veinous fistula
Pulmonary atresia with intact ventricular septum
Pulmonary atresia with ventricular septal defect
Pulmonary vein stenosis
Pulmonary venoocclusive disease
Punctate palmoplantar keratoderma type 2
Punctate palmoplantar keratoderma type I
Purine nucleoside phosphorylase deficiency
Pustulosis palmaris et plantaris
Pycnodysostosis
Pyknoachondrogenesis
Pyle disease
Pyogenic arthritis, pyoderma gangrenosum and acne
Pyridoxal 5'-phosphate-dependent epilepsy
Pyridoxine-dependent epilepsy
Pyropoikilocytosis hereditary
Pyruvate dehydrogenase phosphatase deficiency
Pyruvate kinase deficiency
Qazi Markouizos syndrome
Quebec platelet disorder
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