Rare Disease Directory P - R
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- 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
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