Rare Disease Directory P - R
- Pachygyria
- Pachygyria with mental retardation and seizures
- Pachygyria, frontotemporal
- Pachyonychia congenita Jackson Lawler type
- Pachyonychia congenita recessive
- Pacman dysplasia
- Paget disease
- Paget's disease of the breast
- Paget's disease, type 1
- Pagon Stephan syndrome
- Paine syndrome
- Palant cleft palate syndrome
- Palindromic rheumatism
- Pallidopyramidal syndrome
- Pallister Killian syndrome
- Pallister W syndrome
- Pallister-Hall syndrome
- Palmer Pagon syndrome
- Palmoplantar Keratoderma
- Palmoplantar keratoderma, epidermolytic
- Pancreas agenesis, dorsal
- Pancreatic adenoma
- Pancreatic beta cell agenesis with neonatal diabetes mellitus
- Pancreatic cancer, adult
- Pancreatic cancer, childhood
- Pancreatic carcinoma, familial
- Pancreatic islet cell tumors
- Pancreatic lipomatosis duodenal stenosis
- Pancreatitis, pediatric
- Pancreatoblastoma
- PANDAS
- Panhypopituitarism
- Panostotic fibrous dysplasia
- Panuveitis
- Papillary cystadenocarcinoma
- Papillary eccrine adenoma
- Papillary renal cell carcinoma
- Papilledema
- Papillitis
- Papilloma of choroid plexus
- Papillorenal syndrome
- Papular mucinosis
- Papular urticaria
- Paracoccidioidomycosis
- Paraganglioma
- Paragonimiasis
- Parainfluenza virus type 3
- Paralysis agitans, juvenile, of Hunt
- Paramyotonia congenita
- Paranasal sinus cancer, adult
- Paranasal sinus cancer, childhood
- Paraneoplastic cerebellar degeneration
- Paraneoplastic Neurologic Disorders
- Paraomphalocele
- Paraplegia
- Parapsoriasis
- Paraquat lung
- Parastremmatic dwarfism
- Parathyroid cancer, adult
- Parathyroid cancer, childhood
- PARC syndrome
- Parenchymatous cortical degeneration of cerebellum
- Paris-Trousseau thrombocytopenia
- Parkes Weber syndrome
- Parkinson disease 3
- Parkinson disease 9
- Parkinson disease, juvenile, autosomal recessive
- Parkinsonism, early onset with mental retardation
- Paroxysmal cold hemoglobinuria
- Paroxysmal kinesigenic choreoathetosis
- Paroxysmal nocturnal hemoglobinuria
- Paroxysmal nonkinesigenic dyskinesia
- Paroxysmal ventricular fibrillation
- Pars planitis
- Parsonage Turner syndrome
- Partial agenesis of corpus callosum
- Partial atrioventricular canal
- Partial deletion of Y
- Partial lissencephaly
- Partington Anderson syndrome
- Partington X-linked mental retardation syndrome
- Parvovirus antenatal infection
- Pascual Castroviejo syndrome
- Pashayan syndrome
- Passos-Bueno syndrome
- Pasteurella multocida infection
- Patau syndrome
- Patel Bixler syndrome
- Patella aplasia, coxa vara, tarsal synostosis
- Patella hypoplasia mental retardation
- Patent ductus arteriosus
- Patterned dystrophy of retinal pigment epithelium
- Patterson pseudoleprechaunism syndrome
- Patterson Stevenson syndrome
- Pauciarticular chronic arthritis
- Pavone Fiumara Rizzo syndrome
- Pearson syndrome
- Pectus carinatum
- Pediatric multiple sclerosis
- Pediatric T-cell leukemia
- Pediatric ulcerative colitis
- Peeling skin syndrome, acral type
- PEHO syndrome
- Pelger-Huet anomaly
- Pelizaeus-Merzbacher disease
- Pelizaeus-Merzbacher like brain sclerosis
- Pelizaeus-Merzbacher-like disease, autosomal recessive, 2
- Pellagra
- Pellagra like syndrome
- Pelvic dysplasia arthrogryposis of lower limbs
- Pelvic lipomatosis
- Pelviscapular dysplasia
- Pemphigus
- Pemphigus and fogo selvagem
- Pemphigus foliaceus
- Pemphigus vulgaris
- Pemphigus vulgaris, familial
- Pena Shokeir syndrome Type 2
- Pena Shokeir syndrome, type 1
- Pendred syndrome
- Penile cancer, adult
- Penile cancer, childhood
- Penis agenesis
- Penoscrotal transposition
- Pentalogy of Cantrell
- Pentosuria
- Penttinen-Aula syndrome
- PEPCK 1 deficiency
- PEPCK 2 deficiency
- Peptidic growth factors deficiency
- Pericardium absent mental retardation short stature
- Perilymphatic fistula
- Perimyositis
- Periodic fever, aphthous stomatitis, pharyngitis and adenitis
- Periodic fever, familial, autosomal dominant
- Peripartum cardiomyopathy
- Peripheral neuroectodermal tumor
- Peripheral T-cell lymphoma
- Peripheral type neurofibromatosis
- Perisylvian syndrome
- Periventricular laminar heterotopia
- Periventricular leukomalacia
- Permanent neonatal diabetes mellitus
- Perniola Krajewska Carnevale syndrome
- Perniosis
- Peroxisomal ACYL-COA oxidase deficiency
- Peroxisomal bifunctional enzyme deficiency
- Peroxisome biogenesis disorders
- Perry syndrome
- Persistent hyperinsulinemic hypoglycemia of infancy
- Persistent Mullerian duct syndrome
- Persistent parvovirus infection
- Persistent truncus arteriosus
- Peters anomaly
- Peters anomaly with cataract
- Peters congenital glaucoma
- Peters plus syndrome
- Petit Fryns syndrome
- Petty Laxova Wiedemann syndrome
- Peutz Jeghers syndrome
- Peyronie disease
- Pfeiffer Kapferer syndrome
- Pfeiffer Mayer syndrome
- Pfeiffer Palm Teller syndrome
- Pfeiffer Rockelein syndrome
- Pfeiffer syndrome
- Pfeiffer Tietze Welte syndrome
- PHACE association
- Phacomatosis fourth
- Phacomatosis pigmentokeratotica
- Phacomatosis pigmentovascularis
- Phelan-McDermid syndrome
- Phenobarbital antenatal infection
- Phenobarbital embryopathy
- Phenol sulfotransferase deficiency
- Phenothiazine antenatal infection
- Phenylalaninemia
- Phenylketonuria
- Phenylketonuria type 2
- Phenylketonuric embryopathy
- Pheochromocytoma
- Pheochromocytoma as part of Neurofibromatosis
- Pheochromocytoma, childhood
- Philadelphia-negative chronic myeloid leukemia
- Phocomelia contractures absent thumb
- Phocomelia ectrodactyly deafness sinus arrhythmia
- Phocomelia syndrome
- Phocomelia thrombocytopenia encephalocele
- Phosphate diabetes
- Phosphoglucomutase deficiency
- Phosphoglucomutase deficiency type 1
- Phosphoglucomutase deficiency type 2
- Phosphoglucomutase deficiency type 3
- Phosphoglucomutase deficiency type 4
- Phosphoglycerate kinase 1 deficiency
- Phosphoglycerate kinase deficiency
- Phosphomannoisomerase deficiency
- Phosphoribosylpyrophosphate synthetase deficiency
- Photosensitive epilepsy
- Phyllodes tumor of the prostate
- Phytanic acid oxidase deficiency
- PIBIDS syndrome
- Picardi-Lassueur-Little syndrome
- Pick disease of the brain
- Piebaldism
- Piepkorn Karp Hickok syndrome
- Pierre Marie cerebellar ataxia
- Pierre Robin sequence faciodigital anomaly
- Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
- Pierre Robin syndrome skeletal dysplasia polydactyly
- Pierre Robin syndrome with fetal chondrodysplasia
- Pierre Robin's sequence
- Pierson syndrome
- Pigmentary retinopathy
- Pigment-dispersion syndrome
- Pigmented purpuric eruption
- Pigmented villonodular synovitis
- Pili annulati
- Pili multigemini
- Pili torti
- Pili torti developmental delay neurological abnormalities
- Pili torti onychodysplasia
- Pillay syndrome
- Pilo dento ungular dysplasia microcephaly
- Pilomatrixoma
- Pilotto syndrome
- Pineal Teratoma
- Pinealoma
- Pineoblastoma, adult
- Pineoblastoma, childhood
- Pinheiro Freire-Maia Miranda syndrome
- Pinta
- Piriformis syndrome
- Pitt Rogers Danks syndrome
- Pitt-Hopkins syndrome
- Pituitary dwarfism 1
- Pituitary tumors, adult
- Pityriasis lichenoides chronica
- Pityriasis lichenoides et varioliformis acuta
- Pityriasis rubra pilaris
- Piussan Lenaerts Mathieu syndrome
- Placenta disorder
- Placenta neoplasm
- Plagiocephaly
- Plagiocephaly and X-linked mental retardation
- Plague
- Plasma cell leukemia
- Plasma thromboplastin antecedent deficiency
- Plasmacytoma anaplastic
- Plasmalogens synthesis deficiency isolated
- Plasminogen activator inhibitor type 1 deficiency
- Platelet disorder, familial, with associated myeloid malignancy
- Platyspondylic lethal chondrodysplasia
- Pleoconial myopathy with salt craving
- Pleomorphic malignant fibrous histiocytoma
- Pleuropulmonary blastoma
- Plexosarcoma
- Plum syndrome
- Plummer Vinson syndrome
- Pneumocystic carinii pneumonia
- Pneumocystosis
- Pneumonia, eosinophilic
- Podder-Tolmie syndrome
- POEMS syndrome
- Poikiloderma of Kindler
- Poikiloderma of Rothmund-Thomson
- Poikilodermatomyositis mental retardation
- Poikilodermia alopecia retrognathism cleft palate
- Pointer syndrome
- Poland syndrome
- Poliomyelitis
- Polyarteritis nodosa
- Polyarthritis
- Polyarthritis, systemic
- Polychondritis
- Polycystic bone disease
- Polycystic kidney disease, type 1
- Polycystic kidney disease, type 2
- Polycystic kidneys, severe infantile with tuberous sclerosis
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
- Polycystic liver disease
- Polycystic ovarian disease, familial
- Polycystic ovaries urethral sphincter dysfunction
- Polycythemia vera
- Polydactyly
- Polydactyly alopecia seborrheic dermatitis
- Polydactyly cleft lip palate psychomotor retardation
- Polydactyly myopia syndrome
- Polydactyly postaxial
- Polydactyly postaxial dental and vertebral
- Polydactyly postaxial with median cleft of upper lip
- Polydactyly preaxial type 1
- Polydactyly syndrome middle ray duplication
- Polydactyly visceral anomalies cleft lip palate
- Polydactyly, preaxial 4
- Polyembryoma
- Polyglucosan body disease, adult
- Polymicrogyria turricephaly hypogenitalism
- Polymorphic catecholergic ventricular tachycardia
- Polymorphic macular degeneration
- Polymorphic reticulosis
- Polymorphous low-grade adenocarcinoma
- Polymyositis
- Polyneuritis
- Polyneuropathy hand defect
- Polyneuropathy mental retardation acromicria prema
- Polyomavirus allograft nephropathy
- Polyomavirus Infections
- Polyosteolysis/hyperostosis syndrome
- Polyostotic osteolytic dysplasia, hereditary expansile
- Polyposis skin pigmentation alopecia fingernail changes
- Polysyndactyly cardiac malformation
- Polysyndactyly microcephaly ptosis
- Polysyndactyly orofacial anomalies
- Polysyndactyly overgrowth syndrome
- Polysyndactyly trigonocephaly agenesis of corpus callosum
- Polysyndactyly type 4
- Polysyndactyly type Haas
- Poncet-Spiegler's cylindroma
- Pontoneocerebellar Hypoplasia
- Popliteal pterygium syndrome
- Popliteal pterygium syndrome lethal type
- Porencephaly
- Porencephaly cerebellar hypoplasia malformations
- Porokeratosis of Mibelli
- Porokeratosis plantaris palmaris et disseminata
- Porokeratosis punctata palmaris et plantaris
- Porokeratosis, disseminated superficial actinic 1
- Porokeratosis, disseminated superficial actinic 2
- Porphyria cutanea tarda
- Porphyria, Ala-D
- Porphyria, congenital erythropoietic
- Portal hypertension
- Portal hypertension due to infrahepatic block
- Portal thrombosis
- Portal vein thrombosis
- Portuguese type amyloidosis
- Positive rheumatoid factor polyarthritis
- Post Polio syndrome
- Postaxial polydactyly mental retardation
- Posterior column ataxia
- Posterior column ataxia with retinitis pigmentosa
- Posterior tibial tendon rupture
- Posterior urethral valves
- Posterior valve urethra
- Post-infectious myocarditis
- Post-infectious reactive arthropathy
- Post-Streptococcal Neurologic Disorders
- Post-transplant lymphoproliferative disease
- Post-traumatic epilepsy
- Postural hypotension
- Postural orthostatic tachycardia syndrome
- Potassium aggravated myotonia
- Potato nose
- Potocki-Lupski syndrome
- Potocki-Shaffer syndrome
- Potter disease type 1
- Potter disease, type 3
- Potter sequence cleft cardiopathy
- Potter syndrome dominant type
- Powell Buist Stenzel syndrome
- Powell Chandra Saal syndrome
- Powell Venencie Gordon syndrome
- Poxviridae disease
- Prader-Willi habitus, osteopenia, and camptodactyly
- Prader-Willi syndrome
- Prata Libéral Gonçalves syndrome
- Preaxial deficiency, postaxial polydactyly and hypospadias
- Preaxial polydactyly colobomata mental retardation
- Precocious epileptic encephalopathy
- Precocious myoclonic encephalopathy
- Precocious puberty
- Precocious puberty, gonadotropin-dependent
- Preeclampsia
- Preeyasombat Varavithya syndrome
- Prekallikrein deficiency, congenital
- Premature aging
- Premature aging, Okamoto type
- Premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, an
- Premature ovarian failure, familial
- Presbycusis
- Presenile dementia, Kraepelin type
- Priapism
- Prieto X-linked mental retardation syndrome
- Primary agammaglobulinemia
- Primary aldosteronism
- Primary amebic meningoencephalitis
- Primary angiitis of the central nervous system
- Primary biliary cirrhosis
- Primary ciliary dyskinesia
- Primary ciliary dyskinesia, 2
- Primary ciliary dyskinesia, 3
- Primary ciliary dyskinesia, 4
- Primary cortisol resistance
- Primary craniosynostosis
- Primary cutaneous amyloidosis
- Primary effusion lymphoma
- Primary familial xanthomatosis with involvement and calcification of the adrenal galnds
- Primary gastrointestinal melanoma
- Primary granulocytic sarcoma
- Primary hyperoxaluria type 1
- Primary hyperoxaluria type 2
- Primary immunodeficiency disorders
- Primary lateral sclerosis juvenile
- Primary malignant lymphoma
- Primary malignant melanoma of the cervix
- Primary malignant melanoma of the conjunctiva
- Primary open angle glaucoma juvenile onset 1
- Primary orthostatic tremor
- Primary progressive aphasia
- Primary release disorder of platelets
- Primary sclerosing cholangitis
- Primary tubular proximal acidosis
- Primordial microcephalic dwarfism Crachami type
- Primrose syndrome
- Prinzmetal's variant angina
- Procarcinoma
- Proconvertin deficiency, congenital
- Proctitis
- Progeria short stature pigmented nevi
- Progeria variant syndrome Ruvalcaba type
- Progeroid syndrome De Barsy type
- Progeroid syndrome Petty type
- Progeroid syndrome, Penttinen type
- Prognathism dominant
- Prognathism, mandibular
- Progressive acromelanosis
- Progressive black carbon hyperpigmentation of infancy
- Progressive external ophthalmoplegia
- Progressive hearing loss stapes fixation
- Progressive hemifacial atrophy
- Progressive kinking of the hair, acquired
- Progressive multifocal leukoencephalopathy
- Progressive myositis ossificans
- Progressive osseous heteroplasia
- Progressive spinal muscular atrophy
- Progressive supranuclear palsy
- Progressive supranuclear palsy atypical
- Prolactinoma, familial
- Prolerating trichilemmal cyst
- Prolidase deficiency
- Prolymphocytic leukemia
- Properdin deficiency
- Properdin deficiency, X-linked
- Propionic acidemia
- Prosencephaly cerebellar dysgenesis
- Prosopagnosia, hereditary
- Prostate cancer, familial
- Prostatic malacoplakia associated with prostatic abscess
- Prostatic stromal proliferation of uncertain malignant potential
- Protein R deficiency
- Protein S acquired deficiency
- Protein S deficiency
- Proteus like syndrome mental retardation eye defect
- Proteus syndrome
- Prothrombin deficiency
- Protoporphyria
- Proud Levine Carpenter syndrome
- Proximal spinal muscular atrophy
- Prune belly syndrome
- Prurigo nodularis
- Pruritic urticarial papules plaques of pregnancy
- Pseudoachondroplasia
- Pseudoachondroplastic dysplasia 2
- Pseudoainhum
- Pseudoaldosteronism
- Pseudoaminopterin syndrome
- Pseudoangiomatous stromal hyperplasia
- Pseudoarylsulfatase A deficiency
- Pseudocholinesterase deficiency
- Pseudodiastrophic dysplasia
- Pseudohermaphrodism anorectal anomalies
- Pseudohermaphroditism
- Pseudohermaphroditism female skeletal anomalies
- Pseudohermaphroditism male with gynecomastia
- Pseudohyperkalemia Cardiff
- Pseudohypoaldosteronism type 1, autosomal dominant
- Pseudohypoaldosteronism type 1, autosomal recessive
- Pseudohypoaldosteronism type 2
- Pseudohypoparathyroidism
- Pseudoinflammatory fundus dystrophy
- Pseudomarfanism
- Pseudomonas stutzeri infections
- Pseudomongolism
- Pseudomyotonia
- Pseudomyxoma peritonei
- Pseudoobstruction idiopathic intestinal
- Pseudopapilledema blepharophimosis hand anomalies
- Pseudo-Pelade of Brocq
- Pseudopolycythaemia
- Pseudoprogeria syndrome
- Pseudotrisomy 13 syndrome
- Pseudotumor cerebri
- Pseudo-Turner syndrome
- Pseudovaginal perineoscrotal hypospadias
- Pseudoxanthoma elasticum
- Pseudoxanthoma elasticum, dominant form
- Pseudoxanthoma elasticum, forme fruste
- Pseudoxanthoma elasticum, recessive form
- Pseudo-Zellweger syndrome
- Psittacosis
- Pterigium Colli
- Pterygia mental retardation facial dysmorphism
- Pterygium colli mental retardation digital anomalies
- Pterygium of the conjunctiva
- Pterygium syndrome antecubital
- Pterygium syndrome multiple dominant type
- Pterygium syndrome X-linked
- Ptosis coloboma mental retardation
- Ptosis coloboma trigonocephaly
- Ptosis strabismus diastasis
- Ptosis strabismus ectopic pupils
- Pulmonar arterioveinous aneurysm
- Pulmonary alveolar proteinosis, acquired
- Pulmonary alveolar proteinosis, congenital
- Pulmonary arterio-veinous fistula
- Pulmonary arteriovenous malformation
- Pulmonary artery agenesis
- Pulmonary artery coming from the aorta
- Pulmonary artery familial dilatation
- Pulmonary artery, isolated unilateral absence of (Isolated UAPA)
- Pulmonary artery, unilateral absence of (UAPA)
- Pulmonary atresia with ventricular septal defect
- Pulmonary branches stenosis
- Pulmonary cystic lymphangiectasis
- Pulmonary edema of mountaineers
- Pulmonary fibrosis /granuloma
- Pulmonary hypoplasia familial primary
- Pulmonary sequestration
- Pulmonary supravalvular stenosis
- Pulmonary surfactant protein B, deficiency of
- Pulmonary valve stenosis
- Pulmonary valves agenesis
- Pulmonary veins stenosis
- Pulmonary venoocclusive disease
- Pulmonary veno-occlusive disease
- Pulmonary venous return anomaly
- Pulmonaryatresia intact ventricular septum
- Pulmonic stenosis
- Punctate acrokeratoderma freckle like pigmentation
- Punctate inner choroidopathy
- Pure red cell aplasia
- Puretic syndrome
- Purine nucleoside phosphorylase deficiency
- Purpura simplex
- Purtilo syndrome
- Pycnodysostosis
- Pyknoachondrogenesis
- Pyle disease
- Pyoderma gangrenosum
- Pyogenic arthritis, pyoderma gangrenosum, and acne
- Pyomyositis
- Pyridoxine deficiency
- Pyridoxine-dependent epilepsy
- Pyrimidinemia familial
- Pyropoikilocytosis
- Pyrosis
- Pyruvate carboxylase deficiency
- Pyruvate decarboxylase deficiency
- Pyruvate dehydrogenase deficiency
- Pyruvate dehydrogenase phosphatase deficiency
- Pyruvate kinase deficiency
- Pyruvate kinase deficiency, liver type
- Pyruvate kinase deficiency, muscle type
- Qazi Markouizos syndrome
- Quebec platelet disorder
- Quinquaud's decalvans folliculitis
- Rabson-Mendenhall syndrome
- Radial defect Robin sequence
- Radial hypoplasia, triphalangeal thumbs and hypospadias
- Radial ray hypoplasia choanal atresia
- Radiation induced angiosarcoma of the breast
- Radiation induced brachial plexopathy
- Radiation induced cancer
- Radiation induced meningioma
- Radio digito facial dysplasia
- Radio renal syndrome
- Radioulnar synostosis retinal pigment abnormalities
- Radio-ulnar synostosis type 1
- Radio-ulnar synostosis type 2
- Radius absent anogenital anomalies
- Raine syndrome
- Rambaud Galian syndrome
- Ramer Ladda syndrome
- Ramon Syndrome
- Ramos Arroyo Clark syndrome
- Ramsay Hunt syndrome
- Rapadilino syndrome
- Rapp-Hodgkin syndrome
- Rasmussen encephalitis
- Rasmussen Johnsen Thomsen syndrome
- Rasmussen subacute encephalitis
- Rat bite fever
- Ray Peterson Scott syndrome
- Reactive angioendotheliomatosis
- Reactive attachment disorder of early childhood
- Reactive attachment disorder of infancy
- Reardon Hall Slaney syndrome
- Reardon Wilson Cavanagh syndrome
- Recessive developmental delay, small stature, microcephaly and brain calcifications
- Recombinant chromosome 8 syndrome
- Rectal cancer, childhood
- Rectal neoplasm
- Rectosigmoid neoplasm
- Recurrent peripheral facial palsy
- Recurrent respiratory papillomatosis
- Red cell phospholipid defect with hemolysis
- Red skin pigment anomaly of New Guinea
- Reductional transverse limb defects
- Reed's syndrome
- Reflex sympathetic dystrophy syndrome
- Refractory anemia
- Refsum disease
- Refsum disease with increased pipecolic acidemia
- Refsum disease, infantile form
- Reginato Shiapachasse syndrome
- Reiter's Syndrome
- Renal adysplasia dominant type
- Renal agenesis meningomyelocele mullerian defect
- Renal agenesis, bilateral
- Renal artery stenosis
- Renal caliceal diverticuli deafness
- Renal cancer
- Renal carcinoma, familial
- Renal cell carcinoma 4
- Renal cysts and diabetes syndrome
- Renal dysplasia - limb defects syndrome
- Renal dysplasia diffuse autosomal recessive
- Renal dysplasia diffuse cystic
- Renal dysplasia limb defects
- Renal dysplasia megalocystis sirenomelia
- Renal dysplasia mesomelia radiohumeral fusion
- Renal genital middle ear anomalies
- Renal glycosuria
- Renal hepatic pancreatic dysplasia Dandy Walker cyst
- Renal hypouricemia
- Renal osteodystrophy
- Renal pelvis and ureter, transitional cell cancer
- Renal rickets
- Renal tubular acidosis
- Renal tubular acidosis progressive nerve deafness
- Renal tubular acidosis, distal
- Renal tubular acidosis, distal, autosomal dominant
- Renal tubular acidosis, distal, autosomal recessive
- Renal tubular acidosis, distal, type 3
- Renal tubular acidosis, distal, type 4
- Renal tubular transport disorders inborn
- Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial dna
- Renier Gabreels Jasper syndrome
- Renoanogenital syndrome
- Renoprival hypertension
- Renpenning syndrome 1
- Resistance to LH (luteinizing hormone)
- Resistance to thyroid stimulating hormone
- Respiratory chain deficiency malformations
- Respiratory distress syndrome, infant
- Restless legs syndrome, susceptibility to, 1
- Restless legs syndrome, susceptibility to, 2
- Restless legs syndrome, susceptibility to, 3
- Restless legs syndrome, susceptibility to, 4
- Restless legs syndrome, susceptibility to, 5
- Restless legs syndrome, susceptibility to, 6
- Reticular dysgenesis
- Reticuloendotheliosis
- Retinal cone dystrophy 2
- Retinal degeneration
- Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma
- Retinal dysplasia X-linked
- Retinal telangiectasia hypogammaglobulinemia
- Retinis pigmentosa deafness hypogenitalism
- Retinitis pigmentosa
- Retinitis pigmentosa 1
- Retinitis Pigmentosa 11
- Retinitis pigmentosa 12
- Retinitis Pigmentosa 13
- Retinitis Pigmentosa 14
- Retinitis Pigmentosa 15
- Retinitis Pigmentosa 17
- Retinitis Pigmentosa 18
- Retinitis Pigmentosa 19
- Retinitis pigmentosa 2, x linked
- Retinitis Pigmentosa 20
- Retinitis Pigmentosa 22
- Retinitis Pigmentosa 23
- Retinitis Pigmentosa 24
- Retinitis Pigmentosa 25
- Retinitis Pigmentosa 26
- Retinitis Pigmentosa 28
- Retinitis pigmentosa 29
- Retinitis pigmentosa 3
- Retinitis Pigmentosa 30
- Retinitis Pigmentosa 31
- Retinitis Pigmentosa 32
- Retinitis Pigmentosa 33
- Retinitis Pigmentosa 34
- Retinitis Pigmentosa 35
- Retinitis Pigmentosa 36
- Retinitis Pigmentosa 4
- Retinitis Pigmentosa 41
- Retinitis Pigmentosa 6
- Retinitis Pigmentosa 7
- Retinitis Pigmentosa 9
- Retinitis pigmentosa, deafness, mental retardation, and hypogonadism
- Retinitis pigmentosa-deafness syndrome
- Retinoblastoma
- Retinohepatoendocrinologic syndrome
- Retinopathy anemia CNS anomalies
- Retinopathy aplastic anemia neurological abnormalities
- Retinopathy of prematurity
- Retinopathy pigmentary mental retardation
- Retinopathy, arteriosclerotic
- Retinoschisis
- Retinoschisis autosomal dominant
- Retinoschisis of Fovea
- Retroperitoneal fibrosis
- Retroperitoneal liposarcoma
- Rett like syndrome
- Rett syndrome
- Revesz syndrome
- Reye syndrome
- Reynolds Neri Hermann syndrome
- Reynolds syndrome
- Rhabditida Infections
- Rhabdoid tumor
- Rhabdomyomatous dysplasia cardiopathy genital anomalies
- Rhabdomyomatous mesenchymal hamartoma
- Rhabdomyosarcoma 1
- Rhabdomyosarcoma 2
- Rhabdomyosarcoma of the orbit
- Rhabdomyosarcoma, childhood
- Rhabdomyosarcoma, embryonal
- Rheumatic Fever
- Rheumatoid nodulosis
- Rheumatoid vasculitis
- Rhizomelic chondrodysplasia punctata, type 2
- Rhizomelic chondrodysplasia punctata, type 3
- Rhizomelic dysplasia Patterson Lowry type
- Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa
- Rhizomelic pseudopolyarthritis
- Rhizomelic syndrome
- RHYNS syndrome
- Ribbing disease
- Richards-Rundle syndrome
- Richieri Costa Da Silva syndrome
- Richieri Costa Guion Almeida Rodini syndrome
- Richieri Costa Guion-Almeida syndrome
- Richieri Costa Orquizas syndrome
- Richieri Costa Pereira syndrome
- Richieri-Costa Colletto Otto syndrome
- Richieri-Costa Guion-Almeida Cohen syndrome
- Richter syndrome
- Rickets
- Rickettsial disease
- Rickettsiosis
- Rieger syndrome
- Rieger syndrome 2
- Right atrium familial dilatation
- Right pulmonary artery, anomalous origin of, familial
- Right ventricle hypoplasia
- Rigid spine syndrome
- Ring dermoid of cornea
- Ringed hair disease
- Rippling muscle disease
- Rippling muscle disease, 1
- Roberts Syndrome
- Robin sequence and oligodactyly
- Robinow Sorauf syndrome
- Robinow syndrome, autosomal recessive
- Robinson Miller Bensimon syndrome
- Roch-Leri mesosomatous lipomatosis
- Rocky Mountain spotted fever
- Rod myopathy
- Rodini Richieri Costa syndrome
- Rodrigues blindness
- ROHHAD
- Roifman syndrome
- Rokitansky Kuster Hauser syndrome
- Rokitansky sequence
- Rokitansky-Aschoff sinuses of the gallbladder
- Rombo syndrome
- Rommen Mueller Sybert syndrome
- Rosai-Dorfman disease
- Rosenberg Chutorian syndrome
- Rotor syndrome
- Roussy Levy hereditary areflexic dystasia
- Rowley-Rosenberg syndrome
- Roy Maroteaux Kremp syndrome
- Rozin Hertz Goodman syndrome
- Rubella
- Rubella virus antenatal infection
- Rubella, congenital
- Rubinstein Taybi like syndrome
- Rubinstein-Taybi syndrome
- Rud Syndrome
- Rudd Klimek syndrome
- Rufous oculocutaneous albinism
- Rumination disorder
- Russell-Silver syndrome
- Ruvalcaba Churesigaew Myhre syndrome
- Ruvalcaba syndrome
- Ruzicka Goerz Anton syndrome
UA Chapters
U of Wisconsin–Madison
Leigh's Disease
Northwestern U
Niemann-Pick Type C
Penn St. Univ.
Kidney Cancer
Univ. of Maryland
Cystic Fibrosis
Colgate Univ.
Ependymoma
Ohio St. Univ.
CMT
Boston College
Duchenne muscular dystrophy
U of Notre Dame
Osteosarcoma
Univ. of Illinois
Acoustic Neuroma
Univ. of Nebraska
Pediatric Brain Cancer
Princeton Univ.
Aplastic Anemia
Saint Francis U
Apraxia
Univ. of Arizona
TBD
Fordham Univ.
Extrarenal Rhabdoid Tumor
N. Carolina St. U
Leukemia
Kent St. Univ.
TBD
Coastal Carolina U
TBD
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Uplifting Athletes News
Friday, May 03, 2013
Uplifting Athletes Blog
President Barack Obama welcomes Hoffman family and 2012 Uplifting Athletes Rare Disease Champion Rex Burkhead to White House
April 29, 2013
Jack Hoffman touched a lot of hearts with his inspirational 69-yard touchdown run during the Nebraska football spring ga…
2013 NFL Draft Recap
April 27, 2013
Penn State University, Ohio State University, Northwestern University, North Carolina State University, Colgate University, University of Maryland, Boston College, University of Nebraska
2013 NFL Draft RECAP: Very proud to say that the 2012 Rare Disease Champion and eight other Uplifting Athletes were s…
Colgate Raiders break Life For Life record for dollars raised
April 23, 2013
We held our seventh annual Lift for Life last Wednesday in the Sanford Field House. The event was a huge success and I a…