Congenital and Genetic Diseases
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
Rabson-Mendenhall syndrome
Radial defect Robin sequence
Radial hypoplasia, triphalangeal thumbs and hypospadias
Radial ray agenesis
Radial ray hypoplasia choanal atresia
Radio renal syndrome
Radioulnar synostosis-microcephaly-scoliosis syndrome
Radius absent anogenital anomalies
Raine syndrome
Ramon Syndrome
Ramos Arroyo Clark syndrome
Rapadilino syndrome
Rapid-onset dystonia-parkinsonism
Rapp-Hodgkin syndrome
Rasmussen Johnsen Thomsen syndrome
Reardon Wilson Cavanagh syndrome
Recessive dystrophic epidermolysis bullosa-generalized other
Recombinant chromosome 8 syndrome
Reducing body myopathy
Refsum disease
Refsum disease, infantile form
REN-related autosomal dominant tubulointerstitial kidney disease
Renal agenesis
Renal coloboma syndrome
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
Renal dysplasia-limb defects syndrome
Renal glycosuria
Renal hypomagnesemia 2
Renal hypomagnesemia-6
Renal hypouricemia
Renal tubular acidosis with deafness
Renal tubular acidosis, distal, autosomal dominant
Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA
Renier Gabreels Jasper syndrome
Renpenning syndrome 1
Reticular dysgenesis
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
Retinal cone dystrophy 1
Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma
Retinal vasculopathy with cerebral leukodystrophy
Retinitis pigmentosa
Retinitis pigmentosa-deafness syndrome
Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
Retinopathy pigmentary mental retardation
Rett syndrome
Revesz syndrome
RFT1-CDG (CDG-In)
Rh deficiency syndrome
Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata type 2 - See Rhizomelic chondrodysplasia punctata
Rhizomelic dysplasia Patterson Lowry type
Rhizomelic syndrome
RHYNS syndrome
Riboflavin transporter deficiency
Richards-Rundle syndrome
Richieri Costa Da Silva syndrome
Richieri Costa Pereira syndrome
Right ventricle hypoplasia
Rigid spine syndrome
Ring chromosome 1
Ring chromosome 10
Ring chromosome 12
Ring chromosome 13
Ring chromosome 14
Ring chromosome 15
Ring chromosome 16
Ring chromosome 17
Ring chromosome 18
Ring chromosome 20
Ring chromosome 21
Ring chromosome 22
Ring chromosome 4
Ring chromosome 6
Ring chromosome 7
Ring chromosome 8
Ring chromosome 9
Rippling muscle disease
RNAse T2-deficient leukoencephalopathy
Roberts syndrome
Robinow syndrome
Roch-Leri mesosomatous lipomatosis
Rodrigues blindness
Roifman syndrome
Rokitansky sequence
Rokitansky-Aschoff sinuses of the gallbladder
Rombo syndrome
Rommen Mueller Sybert syndrome
Rothmund-Thomson syndrome
Rotor syndrome
Roussy Levy syndrome
Rozin Hertz Goodman syndrome
RRM2B-related mitochondrial DNA depletion syndrome
Rud Syndrome
Russell-Silver syndrome
Rutherfurd syndrome
Ruvalcaba syndrome
Ruzicka Goerz Anton syndrome
Sabinas brittle hair syndrome - See Trichothiodystrophy
Saccharopinuria
Sacral defect with anterior meningocele
Sacral hemangiomas multiple congenital abnormalities
Sacral meningocele conotruncal heart defects
Saethre-Chotzen syndrome
Saito Kuba Tsuruta syndrome
Sakati syndrome
Sakoda complex
Salcedo syndrome
Salla disease
Sarcosinemia
Satoyoshi syndrome
Saul Wilkes Stevenson syndrome
Say Barber Miller syndrome
Say Meyer syndrome
Say syndrome
Say-Field-Coldwell syndrome
Scalp defects postaxial polydactyly
Scalp ear nipple syndrome
Scapuloperoneal syndrome, neurogenic, Kaeser type
SCARF syndrome
Schaaf-Yang syndrome
Schaap Taylor Baraitser syndrome
Schaefer Stein Oshman syndrome
Scheie syndrome
Scheuermann disease
Schimke immunoosseous dysplasia
Schindler disease type 1
Schinzel Giedion syndrome
Schisis association
Schizencephaly
Schneckenbecken dysplasia
Scholte syndrome
Schrander-Stumpel Theunissen Hulsmans syndrome
Schwannomatosis
Schwartz Jampel syndrome
Sclerosteosis
SCOT deficiency
Scott Bryant Graham syndrome
Scott syndrome
Sea-Blue histiocytosis
Seaver Cassidy syndrome
Sebaceous gland hyperplasia, familial presenile
Seckel like syndrome Majoor-Krakauer type
Seckel syndrome
Segmentation syndrome 1
Selective IgM deficiency
Semantic dementia
Semmekrot Haraldsson Weemaes syndrome
Sengers syndrome
Senior Loken Syndrome
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sepiapterin reductase deficiency
Septo-optic dysplasia spectrum
Sequeiros Sack syndrome
Seres-Santamaria Arimany Muniz syndrome
SERKAL syndrome
SeSAME syndrome
SETBP1 disorder
Severe achondroplasia with developmental delay and acanthosis nigricans
Severe combined immunodeficiency
Severe combined immunodeficiency due to complete RAG1/2 deficiency
Severe congenital nemaline myopathy
Severe congenital neutropenia autosomal recessive 3
Severe congenital neutropenia X-linked
Severe generalized recessive dystrophic epidermolysis bullosa
Severe intellectual disability-progressive spastic diplegia syndrome
Severe X-linked intellectual disability, Gustavson type
Sheldon-Hall syndrome
Short limb dwarf lethal Colavita Kozlowski type
Short rib-polydactyly syndrome type 3
Short rib-polydactyly syndrome type 1
Short rib-polydactyly syndrome type 2
Short rib-polydactyly syndrome type 4
Short stature deafness neutrophil dysfunction
Short stature syndrome, Brussels type
Short stature wormian bones dextrocardia
Short stature-craniofacial anomalies-genital hypoplasia syndrome
SHORT syndrome
Short-chain acyl-CoA dehydrogenase deficiency
Shoulder girdle defect mental retardation familial
Shprintzen omphalocele syndrome
Shprintzen-Goldberg craniosynostosis syndrome
Shwachman-Diamond syndrome
Sialidosis type I
Sialidosis, type II
Sialuria, French type
Sickle beta thalassemia
Sickle cell - hemoglobin D disease
Sickle cell anemia
Sideroblastic anemia and mitochondrial myopathy
Siegler Brewer Carey syndrome
Silengo Lerone Pelizza syndrome
Sillence syndrome
Simosa cranio facial syndrome
Simpson-Golabi-Behmel syndrome
Single upper central incisor
Singleton-Merten syndrome
Sirenomelia
Sitosterolemia
Situs inversus
Situs inversus totalis with cystic dysplasia of kidneys and pancreas
Sjogren-Larsson syndrome
Skeletal dysplasia, San Diego type
Skeletal dysplasias - Not a rare disease
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
SLC35A1-CDG (CDG-IIf)
SLC35A2-CDG
SLC35C1-CDG (CDG-IIc)
Slow-channel congenital myasthenic syndrome
Small patella syndrome
Smith McCort dysplasia
Smith-Lemli-Opitz syndrome
Smith-Magenis syndrome
Sneddon syndrome
Snowflake vitreoretinal degeneration
Snyder-Robinson syndrome
Sonoda syndrome
Sotos syndrome
Spasmodic dysphonia
Spastic ataxia Charlevoix-Saguenay type
Spastic paraplegia 1
Spastic paraplegia 10
Spastic paraplegia 11
Spastic paraplegia 12
Spastic paraplegia 13
Spastic paraplegia 14
Spastic paraplegia 15
Spastic paraplegia 16
Spastic paraplegia 17
Spastic paraplegia 18
Spastic paraplegia 19
Spastic paraplegia 2
Spastic paraplegia 23
Spastic paraplegia 24
Spastic paraplegia 25
Spastic paraplegia 26
Spastic paraplegia 29
Spastic paraplegia 3
Spastic paraplegia 31
Spastic paraplegia 32
Spastic paraplegia 4
Spastic paraplegia 51
Spastic paraplegia 5A
Spastic paraplegia 6
Spastic paraplegia 7
Spastic paraplegia 8
Spastic paraplegia 9
Spastic paraplegia facial cutaneous lesions
Spastic paraplegia-epilepsy-intellectual disability syndrome
Spastic paraplegia-glaucoma-intellectual disability syndrome
Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Specific antibody deficiency
Spina bifida
Spinal atrophy ophthalmoplegia pyramidal syndrome
Spinal muscular atrophy 1
Spinal muscular atrophy type 2
Spinal muscular atrophy type 3
Spinocerebellar ataxia 1
Spinocerebellar ataxia 10
Spinocerebellar ataxia 11
Spinocerebellar ataxia 12
Spinocerebellar ataxia 13
Spinocerebellar ataxia 14
Spinocerebellar ataxia 15
Spinocerebellar ataxia 17
Spinocerebellar ataxia 18
Spinocerebellar ataxia 19 and 22
Spinocerebellar ataxia 2
Spinocerebellar ataxia 20
Spinocerebellar ataxia 21
Spinocerebellar ataxia 23
Spinocerebellar ataxia 25
Spinocerebellar ataxia 26
Spinocerebellar ataxia 27
Spinocerebellar ataxia 28
Spinocerebellar ataxia 29
Spinocerebellar ataxia 31
Spinocerebellar ataxia 34
Spinocerebellar ataxia 4
Spinocerebellar ataxia 5
Spinocerebellar ataxia 7
Spinocerebellar ataxia 8
Spinocerebellar ataxia autosomal recessive 3
Spinocerebellar ataxia autosomal recessive 4
Spinocerebellar ataxia autosomal recessive 5
Spinocerebellar ataxia autosomal recessive 7
Spinocerebellar ataxia autosomal recessive 8
Spinocerebellar ataxia autosomal recessive with axonal neuropathy
Spinocerebellar ataxia type 6
Spinocerebellar ataxia with dysmorphism
Spinocerebellar ataxia X-linked type 3
Spinocerebellar ataxia X-linked type 4
Spinocerebellar degeneration and corneal dystrophy
Splenogonadal fusion limb defects micrognatia
Split hand foot malformation
Split hand foot malformation 1
Split hand split foot nystagmus
Split hand urinary anomalies spina bifida
Split spinal cord malformation
Spondylocamptodactyly
Spondylocarpotarsal synostosis syndrome
Spondylocostal dysostosis 1 - See Spondylocostal dysostosis
Spondylocostal dysostosis 2 - See Spondylocostal dysostosis
Spondylocostal dysostosis 3 - See Spondylocostal dysostosis
Spondylocostal dysostosis 4 - See Spondylocostal dysostosis
Spondylocostal dysostosis 5 - See Spondylocostal dysostosis
Spondylocostal dysostosis 6 - See Spondylocostal dysostosis
Spondylodysplastic Ehlers-Danlos syndrome
Spondyloenchondrodysplasia
Spondyloepimetaphyseal dysplasia Genevieve type
Spondyloepimetaphyseal dysplasia joint laxity
Spondyloepimetaphyseal dysplasia Matrilin-3 related
Spondyloepimetaphyseal dysplasia micromelic
Spondyloepimetaphyseal dysplasia Missouri type
Spondyloepimetaphyseal dysplasia Shohat type
Spondyloepimetaphyseal dysplasia Sponastrime type
Spondyloepimetaphyseal dysplasia Strudwick type
Spondyloepimetaphyseal dysplasia with hypotrichosis
Spondyloepimetaphyseal dysplasia with multiple dislocations
Spondyloepimetaphyseal dysplasia X-linked
Spondyloepimetaphyseal dysplasia x-linked with mental deterioration
Spondyloepimetaphyseal dysplasia, Aggrecan type
Spondyloepiphyseal dysplasia congenita
Spondyloepiphyseal dysplasia Maroteaux type
Spondyloepiphyseal dysplasia tarda X-linked
Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
Spondylometaepiphyseal dysplasia short limb-hand type
Spondylometaphyseal dysplasia Algerian type
Spondylometaphyseal dysplasia corner fracture type
Spondylometaphyseal dysplasia East-African type
Spondylometaphyseal dysplasia Sedaghatian type
Spondylometaphyseal dysplasia type A4
Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism
Spondylometaphyseal dysplasia with cone-rod dystrophy
Spondylometaphyseal dysplasia with dentinogenesis imperfecta
Spondylometaphyseal dysplasia X-linked
Spondylometaphyseal dysplasia, Kozlowski type
Spondyloperipheral dysplasia
Spondylospinal thoracic dysostosis
Spondylothoracic dysostosis
Sprengel deformity
SRD5A3-CDG (CDG-Iq)
SSR4-CDG
Stalker Chitayat syndrome
STAR syndrome
Stargardt disease
Steatocystoma multiplex
Steatocystoma multiplex with natal teeth
Steinfeld syndrome
Sternal cleft
Stickler syndrome
Stickler syndrome type 1
Stickler syndrome, type 2
Stickler syndrome, type 3
Stiff person syndrome
Stiff skin syndrome
Stocco dos Santos syndrome
Stoll Alembik Finck syndrome
Stomatocytosis I
Striatonigral degeneration infantile
Sturge-Weber syndrome
Stuve-Wiedemann syndrome
Subaortic stenosis short stature syndrome
Subcortical band heterotopia
Succinic semialdehyde dehydrogenase deficiency
Sudden infant death with dysgenesis of the testes syndrome
Sugarman brachydactyly
Supernumerary nipple - Not a rare disease
Supraumbilical midabdominal raphe and facial cavernous hemangiomas
Supravalvular aortic stenosis
Swyer syndrome
Symphalangism with multiple anomalies of hands and feet
Syndactyly Cenani Lenz type
Syndactyly type 1
Syndactyly type 3
Syndactyly type 5
Syndactyly type 9
Syndactyly-polydactyly-earlobe syndrome
Syndromic microphthalmia, type 3
Syngnathia cleft palate
Syngnathia multiple anomalies
Synovial chondromatosis, familial with dwarfism
Syringomyelia
T-cell immunodeficiency, congenital alopecia and nail dystrophy
Tabatznik syndrome
Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals
Talonavicular coalition
Tangier disease
TANGO2-Related Metabolic Encephalopathy and Arrhythmias
TAR syndrome
Tardive dyskinesia - Not a rare disease
TARP syndrome
Tarsal carpal coalition syndrome
Taurodontia, absent teeth, sparse hair syndrome
Taurodontism
Taurodontism, microdontia, and dens invaginatus
Teebi Kaurah syndrome
Teebi Naguib Al Awadi syndrome
Teebi Shaltout syndrome
Teeth noneruption of with maxillary hypoplasia and genu valgum
Tel Hashomer camptodactyly syndrome
Telfer Sugar Jaeger syndrome
Temple syndrome
Temple-Baraitser syndrome
Temporal epilepsy, familial
Temtamy preaxial brachydactyly syndrome
Temtamy syndrome
Tendons, extensor, of fingers, anomalous insertion of
Testotoxicosis
Tethered cord syndrome
Tetra-amelia syndrome
Tetraamelia multiple malformations X-linked
Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities
Tetraamelia with pulmonary hypoplasia
Tetralogy of Fallot
Tetralogy of fallot and glaucoma
Tetramelic monodactyly
Tetraploidy
Tetrasomy 21
Tetrasomy 9p
Tetrasomy X
Thai symphalangism syndrome
Thakker-Donnai syndrome
Thanatophoric dysplasia type 1
Thanatophoric dysplasia type 2
Thiamine responsive megaloblastic anemia syndrome
Thiopurine S methyltranferase deficiency
Thomas syndrome
Thompson Baraitser syndrome
Thoracic dysplasia hydrocephalus syndrome
Thoraco abdominal enteric duplication
Thoracolaryngopelvic dysplasia
Thoracomelic dysplasia
Thrombocytopathy asplenia miosis
Thumb deformity
Thumb deformity, alopecia, pigmentation anomaly
Thumb stiff brachydactyly mental retardation
Thymic-Renal-Anal-Lung dysplasia
Thyroid dysgenesis
Tibia absent polydactyly arachnoid cyst
Tietz syndrome
Tight skin contracture syndrome, lethal
Timothy syndrome
TMEM165-CDG (CDG-IIk)
Tollner Horst Manzke syndrome
Tolosa Hunt syndrome
Tonoki syndrome
Torg Winchester syndrome
Toriello-Carey syndrome
Torticollis keloids cryptorchidism renal dysplasia
Torticollis, familial
Total Hypotrichosis, Mari type
Townes-Brocks syndrome
Tracheal agenesis
Tranebjaerg Svejgaard syndrome
Transaldolase deficiency
Transient bullous dermolysis of the newborn
Transient infantile liver failure
Transient neonatal diabetes mellitus
Treacher Collins syndrome
Treacher Collins syndrome 3
Tricho-dento-osseous syndrome
Trichodental syndrome
Trichohepatoenteric syndrome
Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina
Trichorhinophalangeal syndrome type 1
Trichorhinophalangeal syndrome type 2
Trichorhinophalangeal syndrome type 3
Trichothiodystrophy
Tricuspid atresia
Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet
Trigonocephaly bifid nose acral anomalies
Triosephosphate isomerase deficiency
Triphalangeal thumbs brachyectrodactyly
Triple A syndrome
Triploidy
Trismus-pseudocamptodactyly syndrome
Trisomy 13
Trisomy 17 mosaicism
Trisomy 18
Trisomy 2 mosaicism
Trisomy 3 mosaicism
Troyer syndrome
Tryptophanuria with dwarfism
Tuberous sclerosis
Tubular aggregate myopathy
Tucker syndrome
Tufted angioma
Tufting enteropathy
Tukel syndrome
Tumor necrosis factor receptor-associated periodic syndrome
Twenty-nail dystrophy
Tylosis with esophageal cancer
Type 1 plasminogen deficiency
Typical congenital nemaline myopathy
Tyrosine hydroxylase deficiency
Tyrosine-oxidase temporary deficiency
Tyrosinemia type 1
Tyrosinemia type 2
Tyrosinemia type 3
Ulerythema ophryogenesis
Ullrich congenital muscular dystrophy
Ulna and fibula, hypoplasia of
Ulna hypoplasia-intellectual disability syndrome
Ulna metaphyseal dysplasia syndrome
Ulnar hypoplasia lobster claw deformity of feet
Ulnar-mammary syndrome
UMOD-related autosomal dominant tubulointerstitial kidney disease
Uncombable hair syndrome
Unverricht-Lundborg disease
Upington disease
Urachal cyst
Urogenital adysplasia
Uropathy distal obstructive polydactyly
Usher syndrome type 2A
Usher syndrome, type 1
UV sensitive syndrome
VACTERL association
VACTERL association with hydrocephaly, X-linked
VACTERL hydrocephaly
Vagina, absence of
Vagneur Triolle Ripert syndrome
Van Benthem-Driessen-Hanveld syndrome
Van Buchem disease type 2
Van Den Bosch syndrome
Van der Woude syndrome
Van der Woude syndrome 2
Variegate porphyria
Vascular Ehlers-Danlos syndrome
Vascular hyalinosis
Vein of Galen aneurysm
Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence
Verloes Bourguignon syndrome
Verloes Van Maldergem Marneffe syndrome
Verloove Vanhorick Brubakk syndrome
Vibratory urticaria
Vici syndrome
Viljoen Kallis Voges syndrome
VLCAD deficiency
Vocal cord dysfunction familial
Vohwinkel syndrome
Von Hippel-Lindau disease
Waardenburg syndrome type 1
Waardenburg syndrome type 2
Waardenburg syndrome type 3
Waardenburg syndrome type 4
Wagner syndrome
WAGR syndrome
Walker-Warburg syndrome
Warfarin syndrome
Warman Mulliken Hayward syndrome
Watson syndrome
Weaver syndrome
Weill-Marchesani syndrome
Weinstein Kliman Scully syndrome
Weissenbacher-Zweymuller syndrome
Welander distal myopathy, Swedish type
Wells-Jankovic syndrome
Werner's syndrome
West syndrome
Weyers acrofacial dysostosis
Weyers ulnar ray/oligodactyly syndrome
WHIM syndrome
Whistling face syndrome, recessive form
White forelock with malformations
White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
White sponge nevus of cannon
Wiedemann Oldigs Oppermann syndrome
Wildervanck syndrome
Williams syndrome
Wilms' tumor
Wilson disease
Wilson-Turner syndrome
Wiskott Aldrich syndrome
Witkop syndrome
Wolf-Hirschhorn syndrome
Wolff-Parkinson-White syndrome - Not a rare disease
Wolfram syndrome
Wolman disease
Woodhouse Sakati syndrome
Woods Black Norbury syndrome
Woolly hair hypotrichosis everted lower lip and outstanding ears
Woolly hair syndrome
Worth type autosomal dominant osteosclerosis
Wrinkly skin syndrome
WT limb blood syndrome
Wyburn-Mason syndrome
X-linked adrenal hypoplasia congenita
X-linked agammaglobulinemia
X-linked Charcot-Marie-Tooth disease type 1 - See Charcot-Marie-Tooth disease
X-linked Charcot-Marie-Tooth disease type 2 - See Charcot-Marie-Tooth disease
X-linked Charcot-Marie-Tooth disease type 3 - See Charcot-Marie-Tooth disease
X-linked Charcot-Marie-Tooth disease type 4 - See Charcot-Marie-Tooth disease
X-linked Charcot-Marie-Tooth disease type 5 - See Charcot-Marie-Tooth disease
X-linked Charcot-Marie-Tooth disease type 6 - See Charcot-Marie-Tooth disease
X-linked complicated corpus callosum agenesis - See L1 syndrome
X-linked complicated spastic paraplegia type 1 - See L1 syndrome
X-linked congenital generalized hypertrichosis
X-linked congenital stationary night blindness
X-linked creatine deficiency
X-linked dominant chondrodysplasia punctata 2
X-linked dystonia-parkinsonism/Lubag
X-linked hereditary sensory and autonomic neuropathy with deafness
X-linked hypohidrotic ectodermal dysplasia
X-linked hypophosphatemia
X-linked ichthyosis
X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis
X-linked intellectual disability - short stature – obesity
X-linked intellectual disability, Abidi type
X-linked intellectual disability, Najm type
X-linked intellectual disability, Schimke type
X-linked intellectual disability, Siderius type
X-linked intellectual disability, Turner type
X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
X-linked intellectual disability-plagiocephaly syndrome
X-linked lissencephaly with abnormal genitalia
X-linked lymphoproliferative syndrome
X-linked lymphoproliferative syndrome 1
X-linked myopathy with excessive autophagy
X-linked myotubular myopathy
X-linked non-specific intellectual disability
X-linked periventricular heterotopia
X-linked severe combined immunodeficiency
X-linked sideroblastic anemia
X-linked susceptibility to autism-4
X-linked thrombocytopenia
Xanthinuria type 1
Xanthinuria type 2
Xeroderma pigmentosum
XFE progeroid syndrome
Xia-Gibbs syndrome
XK aprosencephaly
Xp22.3 microdeletion syndrome
Yellow nail syndrome
Yemenite deaf-blind hypopigmentation syndrome
Yorifuji Okuno syndrome
Young syndrome
Yunis-Varon syndrome
Zadik Barak Levin syndrome
ZAP-70 deficiency
Zazam Sheriff Phillips syndrome
Zechi Ceide syndrome
Zellweger syndrome
Zlotogora syndrome
Zori Stalker Williams syndrome
ZTTK syndrome
Zunich neuroectodermal syndrome
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
Rabson-Mendenhall syndrome
Radial defect Robin sequence
Radial hypoplasia, triphalangeal thumbs and hypospadias
Radial ray agenesis
Radial ray hypoplasia choanal atresia
Radio renal syndrome
Radioulnar synostosis-microcephaly-scoliosis syndrome
Radius absent anogenital anomalies
Raine syndrome
Ramon Syndrome
Ramos Arroyo Clark syndrome
Rapadilino syndrome
Rapid-onset dystonia-parkinsonism
Rapp-Hodgkin syndrome
Rasmussen Johnsen Thomsen syndrome
Reardon Wilson Cavanagh syndrome
Recessive dystrophic epidermolysis bullosa-generalized other
Recombinant chromosome 8 syndrome
Reducing body myopathy
Refsum disease
Refsum disease, infantile form
REN-related autosomal dominant tubulointerstitial kidney disease
Renal agenesis
Renal coloboma syndrome
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
Renal dysplasia-limb defects syndrome
Renal glycosuria
Renal hypomagnesemia 2
Renal hypomagnesemia-6
Renal hypouricemia
Renal tubular acidosis with deafness
Renal tubular acidosis, distal, autosomal dominant
Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA
Renier Gabreels Jasper syndrome
Renpenning syndrome 1
Reticular dysgenesis
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
Retinal cone dystrophy 1
Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma
Retinal vasculopathy with cerebral leukodystrophy
Retinitis pigmentosa
Retinitis pigmentosa-deafness syndrome
Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
Retinopathy pigmentary mental retardation
Rett syndrome
Revesz syndrome
RFT1-CDG (CDG-In)
Rh deficiency syndrome
Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata type 2 - See Rhizomelic chondrodysplasia punctata
Rhizomelic dysplasia Patterson Lowry type
Rhizomelic syndrome
RHYNS syndrome
Riboflavin transporter deficiency
Richards-Rundle syndrome
Richieri Costa Da Silva syndrome
Richieri Costa Pereira syndrome
Right ventricle hypoplasia
Rigid spine syndrome
Ring chromosome 1
Ring chromosome 10
Ring chromosome 12
Ring chromosome 13
Ring chromosome 14
Ring chromosome 15
Ring chromosome 16
Ring chromosome 17
Ring chromosome 18
Ring chromosome 20
Ring chromosome 21
Ring chromosome 22
Ring chromosome 4
Ring chromosome 6
Ring chromosome 7
Ring chromosome 8
Ring chromosome 9
Rippling muscle disease
RNAse T2-deficient leukoencephalopathy
Roberts syndrome
Robinow syndrome
Roch-Leri mesosomatous lipomatosis
Rodrigues blindness
Roifman syndrome
Rokitansky sequence
Rokitansky-Aschoff sinuses of the gallbladder
Rombo syndrome
Rommen Mueller Sybert syndrome
Rothmund-Thomson syndrome
Rotor syndrome
Roussy Levy syndrome
Rozin Hertz Goodman syndrome
RRM2B-related mitochondrial DNA depletion syndrome
Rud Syndrome
Russell-Silver syndrome
Rutherfurd syndrome
Ruvalcaba syndrome
Ruzicka Goerz Anton syndrome
Sabinas brittle hair syndrome - See Trichothiodystrophy
Saccharopinuria
Sacral defect with anterior meningocele
Sacral hemangiomas multiple congenital abnormalities
Sacral meningocele conotruncal heart defects
Saethre-Chotzen syndrome
Saito Kuba Tsuruta syndrome
Sakati syndrome
Sakoda complex
Salcedo syndrome
Salla disease
Sarcosinemia
Satoyoshi syndrome
Saul Wilkes Stevenson syndrome
Say Barber Miller syndrome
Say Meyer syndrome
Say syndrome
Say-Field-Coldwell syndrome
Scalp defects postaxial polydactyly
Scalp ear nipple syndrome
Scapuloperoneal syndrome, neurogenic, Kaeser type
SCARF syndrome
Schaaf-Yang syndrome
Schaap Taylor Baraitser syndrome
Schaefer Stein Oshman syndrome
Scheie syndrome
Scheuermann disease
Schimke immunoosseous dysplasia
Schindler disease type 1
Schinzel Giedion syndrome
Schisis association
Schizencephaly
Schneckenbecken dysplasia
Scholte syndrome
Schrander-Stumpel Theunissen Hulsmans syndrome
Schwannomatosis
Schwartz Jampel syndrome
Sclerosteosis
SCOT deficiency
Scott Bryant Graham syndrome
Scott syndrome
Sea-Blue histiocytosis
Seaver Cassidy syndrome
Sebaceous gland hyperplasia, familial presenile
Seckel like syndrome Majoor-Krakauer type
Seckel syndrome
Segmentation syndrome 1
Selective IgM deficiency
Semantic dementia
Semmekrot Haraldsson Weemaes syndrome
Sengers syndrome
Senior Loken Syndrome
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sepiapterin reductase deficiency
Septo-optic dysplasia spectrum
Sequeiros Sack syndrome
Seres-Santamaria Arimany Muniz syndrome
SERKAL syndrome
SeSAME syndrome
SETBP1 disorder
Severe achondroplasia with developmental delay and acanthosis nigricans
Severe combined immunodeficiency
Severe combined immunodeficiency due to complete RAG1/2 deficiency
Severe congenital nemaline myopathy
Severe congenital neutropenia autosomal recessive 3
Severe congenital neutropenia X-linked
Severe generalized recessive dystrophic epidermolysis bullosa
Severe intellectual disability-progressive spastic diplegia syndrome
Severe X-linked intellectual disability, Gustavson type
Sheldon-Hall syndrome
Short limb dwarf lethal Colavita Kozlowski type
Short rib-polydactyly syndrome type 3
Short rib-polydactyly syndrome type 1
Short rib-polydactyly syndrome type 2
Short rib-polydactyly syndrome type 4
Short stature deafness neutrophil dysfunction
Short stature syndrome, Brussels type
Short stature wormian bones dextrocardia
Short stature-craniofacial anomalies-genital hypoplasia syndrome
SHORT syndrome
Short-chain acyl-CoA dehydrogenase deficiency
Shoulder girdle defect mental retardation familial
Shprintzen omphalocele syndrome
Shprintzen-Goldberg craniosynostosis syndrome
Shwachman-Diamond syndrome
Sialidosis type I
Sialidosis, type II
Sialuria, French type
Sickle beta thalassemia
Sickle cell - hemoglobin D disease
Sickle cell anemia
Sideroblastic anemia and mitochondrial myopathy
Siegler Brewer Carey syndrome
Silengo Lerone Pelizza syndrome
Sillence syndrome
Simosa cranio facial syndrome
Simpson-Golabi-Behmel syndrome
Single upper central incisor
Singleton-Merten syndrome
Sirenomelia
Sitosterolemia
Situs inversus
Situs inversus totalis with cystic dysplasia of kidneys and pancreas
Sjogren-Larsson syndrome
Skeletal dysplasia, San Diego type
Skeletal dysplasias - Not a rare disease
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
SLC35A1-CDG (CDG-IIf)
SLC35A2-CDG
SLC35C1-CDG (CDG-IIc)
Slow-channel congenital myasthenic syndrome
Small patella syndrome
Smith McCort dysplasia
Smith-Lemli-Opitz syndrome
Smith-Magenis syndrome
Sneddon syndrome
Snowflake vitreoretinal degeneration
Snyder-Robinson syndrome
Sonoda syndrome
Sotos syndrome
Spasmodic dysphonia
Spastic ataxia Charlevoix-Saguenay type
Spastic paraplegia 1
Spastic paraplegia 10
Spastic paraplegia 11
Spastic paraplegia 12
Spastic paraplegia 13
Spastic paraplegia 14
Spastic paraplegia 15
Spastic paraplegia 16
Spastic paraplegia 17
Spastic paraplegia 18
Spastic paraplegia 19
Spastic paraplegia 2
Spastic paraplegia 23
Spastic paraplegia 24
Spastic paraplegia 25
Spastic paraplegia 26
Spastic paraplegia 29
Spastic paraplegia 3
Spastic paraplegia 31
Spastic paraplegia 32
Spastic paraplegia 4
Spastic paraplegia 51
Spastic paraplegia 5A
Spastic paraplegia 6
Spastic paraplegia 7
Spastic paraplegia 8
Spastic paraplegia 9
Spastic paraplegia facial cutaneous lesions
Spastic paraplegia-epilepsy-intellectual disability syndrome
Spastic paraplegia-glaucoma-intellectual disability syndrome
Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Specific antibody deficiency
Spina bifida
Spinal atrophy ophthalmoplegia pyramidal syndrome
Spinal muscular atrophy 1
Spinal muscular atrophy type 2
Spinal muscular atrophy type 3
Spinocerebellar ataxia 1
Spinocerebellar ataxia 10
Spinocerebellar ataxia 11
Spinocerebellar ataxia 12
Spinocerebellar ataxia 13
Spinocerebellar ataxia 14
Spinocerebellar ataxia 15
Spinocerebellar ataxia 17
Spinocerebellar ataxia 18
Spinocerebellar ataxia 19 and 22
Spinocerebellar ataxia 2
Spinocerebellar ataxia 20
Spinocerebellar ataxia 21
Spinocerebellar ataxia 23
Spinocerebellar ataxia 25
Spinocerebellar ataxia 26
Spinocerebellar ataxia 27
Spinocerebellar ataxia 28
Spinocerebellar ataxia 29
Spinocerebellar ataxia 31
Spinocerebellar ataxia 34
Spinocerebellar ataxia 4
Spinocerebellar ataxia 5
Spinocerebellar ataxia 7
Spinocerebellar ataxia 8
Spinocerebellar ataxia autosomal recessive 3
Spinocerebellar ataxia autosomal recessive 4
Spinocerebellar ataxia autosomal recessive 5
Spinocerebellar ataxia autosomal recessive 7
Spinocerebellar ataxia autosomal recessive 8
Spinocerebellar ataxia autosomal recessive with axonal neuropathy
Spinocerebellar ataxia type 6
Spinocerebellar ataxia with dysmorphism
Spinocerebellar ataxia X-linked type 3
Spinocerebellar ataxia X-linked type 4
Spinocerebellar degeneration and corneal dystrophy
Splenogonadal fusion limb defects micrognatia
Split hand foot malformation
Split hand foot malformation 1
Split hand split foot nystagmus
Split hand urinary anomalies spina bifida
Split spinal cord malformation
Spondylocamptodactyly
Spondylocarpotarsal synostosis syndrome
Spondylocostal dysostosis 1 - See Spondylocostal dysostosis
Spondylocostal dysostosis 2 - See Spondylocostal dysostosis
Spondylocostal dysostosis 3 - See Spondylocostal dysostosis
Spondylocostal dysostosis 4 - See Spondylocostal dysostosis
Spondylocostal dysostosis 5 - See Spondylocostal dysostosis
Spondylocostal dysostosis 6 - See Spondylocostal dysostosis
Spondylodysplastic Ehlers-Danlos syndrome
Spondyloenchondrodysplasia
Spondyloepimetaphyseal dysplasia Genevieve type
Spondyloepimetaphyseal dysplasia joint laxity
Spondyloepimetaphyseal dysplasia Matrilin-3 related
Spondyloepimetaphyseal dysplasia micromelic
Spondyloepimetaphyseal dysplasia Missouri type
Spondyloepimetaphyseal dysplasia Shohat type
Spondyloepimetaphyseal dysplasia Sponastrime type
Spondyloepimetaphyseal dysplasia Strudwick type
Spondyloepimetaphyseal dysplasia with hypotrichosis
Spondyloepimetaphyseal dysplasia with multiple dislocations
Spondyloepimetaphyseal dysplasia X-linked
Spondyloepimetaphyseal dysplasia x-linked with mental deterioration
Spondyloepimetaphyseal dysplasia, Aggrecan type
Spondyloepiphyseal dysplasia congenita
Spondyloepiphyseal dysplasia Maroteaux type
Spondyloepiphyseal dysplasia tarda X-linked
Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
Spondylometaepiphyseal dysplasia short limb-hand type
Spondylometaphyseal dysplasia Algerian type
Spondylometaphyseal dysplasia corner fracture type
Spondylometaphyseal dysplasia East-African type
Spondylometaphyseal dysplasia Sedaghatian type
Spondylometaphyseal dysplasia type A4
Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism
Spondylometaphyseal dysplasia with cone-rod dystrophy
Spondylometaphyseal dysplasia with dentinogenesis imperfecta
Spondylometaphyseal dysplasia X-linked
Spondylometaphyseal dysplasia, Kozlowski type
Spondyloperipheral dysplasia
Spondylospinal thoracic dysostosis
Spondylothoracic dysostosis
Sprengel deformity
SRD5A3-CDG (CDG-Iq)
SSR4-CDG
Stalker Chitayat syndrome
STAR syndrome
Stargardt disease
Steatocystoma multiplex
Steatocystoma multiplex with natal teeth
Steinfeld syndrome
Sternal cleft
Stickler syndrome
Stickler syndrome type 1
Stickler syndrome, type 2
Stickler syndrome, type 3
Stiff person syndrome
Stiff skin syndrome
Stocco dos Santos syndrome
Stoll Alembik Finck syndrome
Stomatocytosis I
Striatonigral degeneration infantile
Sturge-Weber syndrome
Stuve-Wiedemann syndrome
Subaortic stenosis short stature syndrome
Subcortical band heterotopia
Succinic semialdehyde dehydrogenase deficiency
Sudden infant death with dysgenesis of the testes syndrome
Sugarman brachydactyly
Supernumerary nipple - Not a rare disease
Supraumbilical midabdominal raphe and facial cavernous hemangiomas
Supravalvular aortic stenosis
Swyer syndrome
Symphalangism with multiple anomalies of hands and feet
Syndactyly Cenani Lenz type
Syndactyly type 1
Syndactyly type 3
Syndactyly type 5
Syndactyly type 9
Syndactyly-polydactyly-earlobe syndrome
Syndromic microphthalmia, type 3
Syngnathia cleft palate
Syngnathia multiple anomalies
Synovial chondromatosis, familial with dwarfism
Syringomyelia
T-cell immunodeficiency, congenital alopecia and nail dystrophy
Tabatznik syndrome
Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals
Talonavicular coalition
Tangier disease
TANGO2-Related Metabolic Encephalopathy and Arrhythmias
TAR syndrome
Tardive dyskinesia - Not a rare disease
TARP syndrome
Tarsal carpal coalition syndrome
Taurodontia, absent teeth, sparse hair syndrome
Taurodontism
Taurodontism, microdontia, and dens invaginatus
Teebi Kaurah syndrome
Teebi Naguib Al Awadi syndrome
Teebi Shaltout syndrome
Teeth noneruption of with maxillary hypoplasia and genu valgum
Tel Hashomer camptodactyly syndrome
Telfer Sugar Jaeger syndrome
Temple syndrome
Temple-Baraitser syndrome
Temporal epilepsy, familial
Temtamy preaxial brachydactyly syndrome
Temtamy syndrome
Tendons, extensor, of fingers, anomalous insertion of
Testotoxicosis
Tethered cord syndrome
Tetra-amelia syndrome
Tetraamelia multiple malformations X-linked
Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities
Tetraamelia with pulmonary hypoplasia
Tetralogy of Fallot
Tetralogy of fallot and glaucoma
Tetramelic monodactyly
Tetraploidy
Tetrasomy 21
Tetrasomy 9p
Tetrasomy X
Thai symphalangism syndrome
Thakker-Donnai syndrome
Thanatophoric dysplasia type 1
Thanatophoric dysplasia type 2
Thiamine responsive megaloblastic anemia syndrome
Thiopurine S methyltranferase deficiency
Thomas syndrome
Thompson Baraitser syndrome
Thoracic dysplasia hydrocephalus syndrome
Thoraco abdominal enteric duplication
Thoracolaryngopelvic dysplasia
Thoracomelic dysplasia
Thrombocytopathy asplenia miosis
Thumb deformity
Thumb deformity, alopecia, pigmentation anomaly
Thumb stiff brachydactyly mental retardation
Thymic-Renal-Anal-Lung dysplasia
Thyroid dysgenesis
Tibia absent polydactyly arachnoid cyst
Tietz syndrome
Tight skin contracture syndrome, lethal
Timothy syndrome
TMEM165-CDG (CDG-IIk)
Tollner Horst Manzke syndrome
Tolosa Hunt syndrome
Tonoki syndrome
Torg Winchester syndrome
Toriello-Carey syndrome
Torticollis keloids cryptorchidism renal dysplasia
Torticollis, familial
Total Hypotrichosis, Mari type
Townes-Brocks syndrome
Tracheal agenesis
Tranebjaerg Svejgaard syndrome
Transaldolase deficiency
Transient bullous dermolysis of the newborn
Transient infantile liver failure
Transient neonatal diabetes mellitus
Treacher Collins syndrome
Treacher Collins syndrome 3
Tricho-dento-osseous syndrome
Trichodental syndrome
Trichohepatoenteric syndrome
Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina
Trichorhinophalangeal syndrome type 1
Trichorhinophalangeal syndrome type 2
Trichorhinophalangeal syndrome type 3
Trichothiodystrophy
Tricuspid atresia
Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet
Trigonocephaly bifid nose acral anomalies
Triosephosphate isomerase deficiency
Triphalangeal thumbs brachyectrodactyly
Triple A syndrome
Triploidy
Trismus-pseudocamptodactyly syndrome
Trisomy 13
Trisomy 17 mosaicism
Trisomy 18
Trisomy 2 mosaicism
Trisomy 3 mosaicism
Troyer syndrome
Tryptophanuria with dwarfism
Tuberous sclerosis
Tubular aggregate myopathy
Tucker syndrome
Tufted angioma
Tufting enteropathy
Tukel syndrome
Tumor necrosis factor receptor-associated periodic syndrome
Twenty-nail dystrophy
Tylosis with esophageal cancer
Type 1 plasminogen deficiency
Typical congenital nemaline myopathy
Tyrosine hydroxylase deficiency
Tyrosine-oxidase temporary deficiency
Tyrosinemia type 1
Tyrosinemia type 2
Tyrosinemia type 3
Ulerythema ophryogenesis
Ullrich congenital muscular dystrophy
Ulna and fibula, hypoplasia of
Ulna hypoplasia-intellectual disability syndrome
Ulna metaphyseal dysplasia syndrome
Ulnar hypoplasia lobster claw deformity of feet
Ulnar-mammary syndrome
UMOD-related autosomal dominant tubulointerstitial kidney disease
Uncombable hair syndrome
Unverricht-Lundborg disease
Upington disease
Urachal cyst
Urogenital adysplasia
Uropathy distal obstructive polydactyly
Usher syndrome type 2A
Usher syndrome, type 1
UV sensitive syndrome
VACTERL association
VACTERL association with hydrocephaly, X-linked
VACTERL hydrocephaly
Vagina, absence of
Vagneur Triolle Ripert syndrome
Van Benthem-Driessen-Hanveld syndrome
Van Buchem disease type 2
Van Den Bosch syndrome
Van der Woude syndrome
Van der Woude syndrome 2
Variegate porphyria
Vascular Ehlers-Danlos syndrome
Vascular hyalinosis
Vein of Galen aneurysm
Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence
Verloes Bourguignon syndrome
Verloes Van Maldergem Marneffe syndrome
Verloove Vanhorick Brubakk syndrome
Vibratory urticaria
Vici syndrome
Viljoen Kallis Voges syndrome
VLCAD deficiency
Vocal cord dysfunction familial
Vohwinkel syndrome
Von Hippel-Lindau disease
Waardenburg syndrome type 1
Waardenburg syndrome type 2
Waardenburg syndrome type 3
Waardenburg syndrome type 4
Wagner syndrome
WAGR syndrome
Walker-Warburg syndrome
Warfarin syndrome
Warman Mulliken Hayward syndrome
Watson syndrome
Weaver syndrome
Weill-Marchesani syndrome
Weinstein Kliman Scully syndrome
Weissenbacher-Zweymuller syndrome
Welander distal myopathy, Swedish type
Wells-Jankovic syndrome
Werner's syndrome
West syndrome
Weyers acrofacial dysostosis
Weyers ulnar ray/oligodactyly syndrome
WHIM syndrome
Whistling face syndrome, recessive form
White forelock with malformations
White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
White sponge nevus of cannon
Wiedemann Oldigs Oppermann syndrome
Wildervanck syndrome
Williams syndrome
Wilms' tumor
Wilson disease
Wilson-Turner syndrome
Wiskott Aldrich syndrome
Witkop syndrome
Wolf-Hirschhorn syndrome
Wolff-Parkinson-White syndrome - Not a rare disease
Wolfram syndrome
Wolman disease
Woodhouse Sakati syndrome
Woods Black Norbury syndrome
Woolly hair hypotrichosis everted lower lip and outstanding ears
Woolly hair syndrome
Worth type autosomal dominant osteosclerosis
Wrinkly skin syndrome
WT limb blood syndrome
Wyburn-Mason syndrome
X-linked adrenal hypoplasia congenita
X-linked agammaglobulinemia
X-linked Charcot-Marie-Tooth disease type 1 - See Charcot-Marie-Tooth disease
X-linked Charcot-Marie-Tooth disease type 2 - See Charcot-Marie-Tooth disease
X-linked Charcot-Marie-Tooth disease type 3 - See Charcot-Marie-Tooth disease
X-linked Charcot-Marie-Tooth disease type 4 - See Charcot-Marie-Tooth disease
X-linked Charcot-Marie-Tooth disease type 5 - See Charcot-Marie-Tooth disease
X-linked Charcot-Marie-Tooth disease type 6 - See Charcot-Marie-Tooth disease
X-linked complicated corpus callosum agenesis - See L1 syndrome
X-linked complicated spastic paraplegia type 1 - See L1 syndrome
X-linked congenital generalized hypertrichosis
X-linked congenital stationary night blindness
X-linked creatine deficiency
X-linked dominant chondrodysplasia punctata 2
X-linked dystonia-parkinsonism/Lubag
X-linked hereditary sensory and autonomic neuropathy with deafness
X-linked hypohidrotic ectodermal dysplasia
X-linked hypophosphatemia
X-linked ichthyosis
X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis
X-linked intellectual disability - short stature – obesity
X-linked intellectual disability, Abidi type
X-linked intellectual disability, Najm type
X-linked intellectual disability, Schimke type
X-linked intellectual disability, Siderius type
X-linked intellectual disability, Turner type
X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
X-linked intellectual disability-plagiocephaly syndrome
X-linked lissencephaly with abnormal genitalia
X-linked lymphoproliferative syndrome
X-linked lymphoproliferative syndrome 1
X-linked myopathy with excessive autophagy
X-linked myotubular myopathy
X-linked non-specific intellectual disability
X-linked periventricular heterotopia
X-linked severe combined immunodeficiency
X-linked sideroblastic anemia
X-linked susceptibility to autism-4
X-linked thrombocytopenia
Xanthinuria type 1
Xanthinuria type 2
Xeroderma pigmentosum
XFE progeroid syndrome
Xia-Gibbs syndrome
XK aprosencephaly
Xp22.3 microdeletion syndrome
Yellow nail syndrome
Yemenite deaf-blind hypopigmentation syndrome
Yorifuji Okuno syndrome
Young syndrome
Yunis-Varon syndrome
Zadik Barak Levin syndrome
ZAP-70 deficiency
Zazam Sheriff Phillips syndrome
Zechi Ceide syndrome
Zellweger syndrome
Zlotogora syndrome
Zori Stalker Williams syndrome
ZTTK syndrome
Zunich neuroectodermal syndrome
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