Rare Disease Library

Qualitative or quantitative defects of nebulin

Qualitative or quantitative defects of perlecan

Qualitative or quantitative defects of plectin

Qualitative or quantitative defects of protein glycosyltransferase-like

Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan

Secondary alpha-dystroglycanopathy · Secondary dystroglycanopathy

Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase

Qualitative or quantitative defects of protein POMGNT1

Qualitative or quantitative defects of protein O-mannosyltransferase 1

Qualitative or quantitative defects of protein O-mannosyltransferase 2

Qualitative or quantitative defects of protein SERCA1

Qualitative or quantitative defects of protein ZASP

Qualitative or quantitative defects of sarcoglycan

Sarcoglycanopathy

Qualitative or quantitative defects of selenoprotein N1

Qualitative or quantitative defects of telethonin

Qualitative or quantitative defects of titin

Qualitative or quantitative defects of Torsin-1A-interacting protein 1

Qualitative or quantitative defects of TRIM32

Qualitative or quantitative defects of tropomyosin

Qualitative or quantitative defects of troponin

Qualitative or quantitative protein defects in neuromuscular diseases

Rare disorder due to toxic effects

Rare intoxication due to medical products

Recurrent hepatitis C virus induced liver disease in liver transplant recipients

Refractory anemia with excess blasts in transformation

RAEB-t

Rickettsial disease

Rickettsiae disease

Rickettsialpox

Roberts syndrome

Pseudothalidomide syndrome · Roberts-SC phocomelia syndrome

Scalp defects-postaxial polydactyly syndrome

Seborrhea-like dermatitis with psoriasiform elements

Sepsis in premature infants

Severe congenital hypochromic anemia with ringed sideroblasts

Severe congenital hypochromic sideroblastic anemia

Severe disseminated cytomegalovirus infection in immunocompetent patients

Severe disseminated CMV infection in immunocompetent patients

Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome

IQSEC2-related syndromic intellectual disability

Short stature-pituitary and cerebellar defects-small sella turcica syndrome

Spastic paraparesis-cataracts-speech delay syndrome

Fatty acyl-CoA reductase 1 superactivity

Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome

Kugelberg-Welander disease · SMA

Splenogonadal fusion-limb defects-micrognathia syndrome

SGFLD syndrome

Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome

Spondyloepiphyseal dysplasia, Nishimura type

Spotted fever rickettsiosis

Spotted fever rickettsiae disease

Structural heart defects-renal anomalies syndrome

Severe congenital heart defects-renal anomalies syndome · SHDRA syndrome

Supernumerary breasts

Accessory breasts · Polymastia

Syndrome with limb reduction defects

Tako-Tsubo cardiomyopathy

Ampulla cardiomyopathy · Apical ballooning syndrome

Temple-Baraitser syndrome

Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome · TMBTS

Terminal osseous dysplasia-pigmentary defects syndrome

Thrombocythemia with distal limb defects

Familial thrombocytosis with transverse limb defect · Hereditary thrombocytosis with transverse limb defect

Typhus-group rickettsiosis

Typhus-group rickettsiae disease

Unilateral aplasia of the Müllerian ducts

Unicornuate uterus

Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome

WILD syndrome · Disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome