Rare Disease Library

Respiratory or mediastinal malformation

Respiratory or thoracic malformation

Restrictive cardiomyopathy

Restrictive dermopathy

Lethal restrictive dermopathy · Lethal hyperkeratosis-contracture syndrome

Retained medullary cord

Reticular dysgenesis

AK2 deficiency · De Vaal disease

Reticular dysgenesis-like severe combined immunodeficiency

Reticular dysgenesis-like SCID · Activated Rac2 defect

Reticular dystrophy of the retinal pigment epithelium

Reticular perineurioma

Reticulate acropigmentation of Kitamura

RAK

Retiform hemangioendothelioma

Retinal capillary malformation

Retinal cavernous hemangioma

Retinal ciliopathy

Retinal ciliopathy due to mutation in Bardet-Biedl gene

Retinal ciliopathy due to mutation in nephronophthisis gene

Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene

Retinal ciliopathy due to mutation in RP1 gene

Retinal ciliopathy due to mutation in the RPGR gene

Retinal ciliopathy due to mutation in the RPGRIP gene

Retinal ciliopathy due to mutation in Usher gene

Retinal degeneration-nanophthalmos-glaucoma syndrome

Mackay-Shek-Carr syndrome

Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies

Retinal dystrophy with inner nuclear layer and ganglion cell anomalies

Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome

ROSAH syndrome · Optic nerve edema-splenomegaly syndrome

Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome

Rambaud-Gallian syndrome · Rambaud-Gallian-Touchard syndrome

Retinal macular dystrophy type 2

MCDR2

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

RVCL-S · Retinal vasculopathy and cerebral leukoencephalopathy

Retinitis pigmentosa

Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome

Retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome

Edwards-Sethi syndrome · Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome

Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome

Retinal dystrophy-juvenile cataract-short stature syndrome

Retinitis punctata albescens

RPA

Retinoblastoma

Retinohepatoendocrinologic syndrome

Retinopathy of prematurity

ROP · Retrolental fibroplasia

Reunion Island Larsen-like syndrome

Multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism syndrome

Reversible cerebral vasoconstriction syndrome

RCVS

Revesz syndrome

Dyskeratosis congenita with bilateral exudative retinopathy · Retinopathy-anemia-central nervous system anomalies syndrome

Reye syndrome

Reynolds syndrome

Primary biliary cirrhosis and systemic scleroderma

RFT1-CDG

CDG1N · Carbohydrate deficient glycoprotein syndrome type In

Rh deficiency syndrome

Rh-null syndrome

Rhabdoid tumor

Malignant rhabdoid tumor

Rhabdoid tumor predisposition syndrome

RTPS

Rhabdomyosarcoma

Rhabdomyosarcoma of the cervix uteri

Cervical rhabdomyosarcoma

Rhabdomyosarcoma of the corpus uteri

Rheumatic fever

Acute rheumatic fever

Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis

Juvenile polyarthritis without rheumatoid factor · Juvenile rheumatoid factor-negative polyarthritis

Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis

Rheumatoid factor-positive polyarticular JIA · Juvenile idiopathic rheumatoid factor-positive polyarthritis