| Members |
languageDialectCode |
typeId |
value |
| Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome |
en |
Attribution |
Inserm Orphanet |
| Reversible cerebral vasoconstriction syndrome |
en |
Attribution |
Inserm Orphanet |
| Revesz syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Rhabdomyosarcoma of cervix uteri |
en |
Attribution |
Inserm Orphanet |
| Rhabdomyosarcoma of corpus uteri (disorder) |
en |
Attribution |
Inserm Orphanet |
| Vulvovaginal rhabdomyosarcoma |
en |
Attribution |
Inserm Orphanet |
| Rhizomelic dysplasia of Patterson Lowry type (disorder) |
en |
Attribution |
Inserm Orphanet |
| Rhizomelic syndrome Urbach type |
en |
Attribution |
Inserm Orphanet |
| Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy (disorder) |
en |
Attribution |
Inserm Orphanet |
| Richards-Rundle syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Richieri Costa-da Silva syndrome |
en |
Attribution |
Inserm Orphanet |
| Ring chromosome 1 syndrome |
en |
Attribution |
Inserm Orphanet |
| Ring chromosome 10 syndrome |
en |
Attribution |
Inserm Orphanet |
| Ring chromosome 11 syndrome |
en |
Attribution |
Inserm Orphanet |
| Ring chromosome 12 syndrome |
en |
Attribution |
Inserm Orphanet |
| Ring chromosome 13 syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Ring chromosome 14 syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Ring chromosome 15 syndrome |
en |
Attribution |
Inserm Orphanet |
| Ring chromosome 16 syndrome |
en |
Attribution |
Inserm Orphanet |
| Ring chromosome 17 syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Ring chromosome 18 syndrome |
en |
Attribution |
Inserm Orphanet |
| Ring chromosome 19 syndrome |
en |
Attribution |
Inserm Orphanet |
| Ring chromosome 2 syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Ring chromosome 20 syndrome |
en |
Attribution |
Inserm Orphanet |
| Ring chromosome 21 syndrome |
en |
Attribution |
Inserm Orphanet |
| Ring chromosome 22 syndrome |
en |
Attribution |
Inserm Orphanet |
| Ring chromosome 3 syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Ring chromosome 4 syndrome |
en |
Attribution |
Inserm Orphanet |
| Ring chromosome 5 syndrome |
en |
Attribution |
Inserm Orphanet |
| Ring chromosome 6 syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Ring chromosome 7 syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Ring chromosome 8 syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Ring chromosome 9 syndrome |
en |
Attribution |
Inserm Orphanet |
| Ring chromosome Y syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Ring dermoid of cornea (disorder) |
en |
Attribution |
Inserm Orphanet |
| Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) |
en |
Attribution |
Inserm Orphanet |
| Rippling muscle disease with myasthenia gravis (disorder) |
en |
Attribution |
Inserm Orphanet |
| Risk, Injury, Failure, Loss of kidney function, and End-stage kidney disease classification, end stage |
en |
Attribution |
ADQI - Acute Disease Quality Initiative |
| Risk, Injury, Failure, Loss of kidney function, and End-stage kidney disease classification, failure stage |
en |
Attribution |
ADQI - Acute Disease Quality Initiative |
| Risk, Injury, Failure, Loss of kidney function, and End-stage kidney disease classification, injury stage |
en |
Attribution |
ADQI - Acute Disease Quality Initiative |
| Risk, Injury, Failure, Loss of kidney function, and End-stage kidney disease classification, loss stage (disorder) |
en |
Attribution |
ADQI - Acute Disease Quality Initiative |
| Risk, Injury, Failure, Loss of kidney function, and End-stage kidney disease classification, risk stage (disorder) |
en |
Attribution |
ADQI - Acute Disease Quality Initiative |
| Robin sequence and oligodactyly syndrome |
en |
Attribution |
Inserm Orphanet |
| Robinow syndrome |
en |
Attribution |
Inserm Orphanet |
| Roch Leri mesosomatous lipomatosis (disorder) |
en |
Attribution |
Inserm Orphanet |
| Roifman syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Rolandic epilepsy, speech dyspraxia syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Rombo syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Rosette-forming glioneuronal neoplasm |
en |
Attribution |
Inserm Orphanet |
| SBDS ribosome maturation factor-related severe neonatal spondylometaphyseal dysplasia (disorder) |
en |
Attribution |
Inserm Orphanet |
| SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| SIM1-related Prader-Willi-like syndrome |
en |
Attribution |
Inserm Orphanet |
| SIX homeobox 2-related frontonasal dysplasia (disorder) |
en |
Attribution |
Inserm Orphanet |
| SMARCA4-deficient undifferentiated neoplasm of thorax (disorder) |
en |
Attribution |
Inserm Orphanet |
| SURF1, cytochrome c oxidase assembly factor related Charcot-Marie-Tooth disease type 4 (disorder) |
en |
Attribution |
Inserm Orphanet |
| SMARCA2-related blepharophimosis, intellectual disability syndrome |
en |
Attribution |
Inserm Orphanet |
| Saccular limited dorsal myeloschisis (disorder) |
en |
Attribution |
Inserm Orphanet |
| Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome |
en |
Attribution |
Inserm Orphanet |
| Sagliker syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Sanjad Sakati syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Satoyoshi syndrome |
en |
Attribution |
Inserm Orphanet |
| Scalp defect postaxial polydactyly syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Scalp, ear, nipple syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Scar of eye due to and following filtration operation for glaucoma (disorder) |
en |
Attribution |
Inserm Orphanet |
| Scedosporiosis (disorder) |
en |
Attribution |
Inserm Orphanet |
| Schilbach Rott syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Schimke immuno-osseous dysplasia (disorder) |
en |
Attribution |
Inserm Orphanet |
| Schisis association syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Scleredema |
en |
Attribution |
Inserm Orphanet |
| Scleroderma |
en |
Attribution |
Inserm Orphanet |
| Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome |
en |
Attribution |
Inserm Orphanet |
| Seaver Cassidy syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| SCALP syndrome |
en |
Attribution |
Inserm Orphanet |
| Seborrhea-like dermatitis with psoriasiform elements (disorder) |
en |
Attribution |
Inserm Orphanet |
| Secondary intestinal lymphangiectasia |
en |
Attribution |
Inserm Orphanet |
| Secondary non-traumatic avascular necrosis of bone |
en |
Attribution |
Inserm Orphanet |
| Secondary pulmonary hemosiderosis (disorder) |
en |
Attribution |
Inserm Orphanet |
| Secondary syringomyelia |
en |
Attribution |
Inserm Orphanet |
| Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome |
en |
Attribution |
Inserm Orphanet |
| Segmental progressive overgrowth syndrome with fibroadipose hyperplasia |
en |
Attribution |
Inserm Orphanet |
| Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Seizures, scoliosis, macrocephaly syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Selective intrauterine growth restriction |
en |
Attribution |
Inserm Orphanet |
| Self-healing collodion baby (disorder) |
en |
Attribution |
Inserm Orphanet |
| Self-limited epilepsy with autonomic seizures (disorder) |
en |
Attribution |
Inserm Orphanet |
| Self-limited familial infantile epilepsy |
en |
Attribution |
Inserm Orphanet |
| Self-limited familial neonatal-infantile epilepsy |
en |
Attribution |
Inserm Orphanet |
| Semicircular canal dehiscence syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Sensorineural deafness with dilated cardiomyopathy syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Sensorineural hearing loss, early graying, essential tremor syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Sepsis of premature infant (disorder) |
en |
Attribution |
Inserm Orphanet |
| Serine biosynthesis pathway deficiency, infantile/juvenile form (disorder) |
en |
Attribution |
Inserm Orphanet |
| Serotonin-producing neuroendocrine neoplasm of pancreas |
en |
Attribution |
Inserm Orphanet |
| Serous carcinoma of body of uterus (disorder) |
en |
Attribution |
Inserm Orphanet |
| Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Severe X-linked intellectual disability Gustavson type (disorder) |
en |
Attribution |
Inserm Orphanet |
| Severe X-linked mitochondrial encephalomyopathy (disorder) |
en |
Attribution |
Inserm Orphanet |
| Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |