domingo, 27 de enero de 2019

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

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

National Center for Advancing and Translational Sciences

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

Congenital and Genetic Diseases

Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance 
Macrosomia with lethal microphthalmia 
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 
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 
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 with osteopoikilosis 
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 
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 
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-intellectual disability-phalangeal and neurological anomalies syndrome 
Microcystic lymphatic malformation 
Microduplication Xp11.22-p11.23 syndrome 
Microgastria limb reduction defect 
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 
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 
Mohr-Tranebjaerg syndrome 
Moloney syndrome 
Molybdenum cofactor deficiency 
MOMO syndrome 
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 
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 
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 
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 
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 
Onychotrichodysplasia and neutropenia 
OPA3 defect 
OPHN1 syndrome 
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 
Osteopathia striata cranial sclerosis 
Osteopathia striata with pigmentary dermopathy including white forelock 
Osteopenia and sparse hair 
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 
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 
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 
PHACE syndrome 
PHAVER syndrome 
Phenobarbital antenatal exposure 
Phocomelia ectrodactyly deafness sinus arrhythmia 
Phosphoglycerate kinase deficiency 
Phosphoglycerate mutase deficiency 
Phosphoserine aminotransferase deficiency 
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 
Plasminogen activator inhibitor type 1 deficiency 
Platyspondylic lethal skeletal dysplasia Torrance type 
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 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 
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 
Pseudoaminopterin syndrome 
Pseudocholinesterase deficiency 
Pseudodiastrophic dysplasia 
Pseudohypoaldosteronism type 2 
Pseudohypoparathyroidism type 1A 
Pseudohypoparathyroidism type 1B 
Pseudohypoparathyroidism type 1C 
Pseudohypoparathyroidism type 2 
Pseudoneonatal adrenoleukodystrophy 
Pseudoprogeria syndrome 
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 
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 
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 
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 
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 
Schneckenbecken dysplasia 
Scholte syndrome 
Schrander-Stumpel Theunissen Hulsmans syndrome 
Schwartz Jampel syndrome 
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 
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 
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 
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 
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 
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 
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, 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 
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 
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 
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 
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 
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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