Rare Disease Library

Qualitative or quantitative defects of fukutin

Qualitative or quantitative defects of gamma-sarcoglycan

Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -

Qualitative or quantitative defects of integrin alpha-7

Integrinopathy

Qualitative or quantitative defects of myofibrillar proteins

Qualitative or quantitative defects of myotubularin

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

Quantitative and/or qualitative congenital phagocyte defect

Quebec platelet disorder

Factor V Quebec

Quinquaud folliculitis decalvans

Rabies

Rabson-Mendenhall syndrome

RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome

RAC2-related CID · Combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome related to Rac family small GTPase 2

Radial deficiency-tibial hypoplasia syndrome

Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome

Schmitt-Gillenwater-Kelly syndrome

Radial ray hypoplasia-choanal atresia syndrome

Goldblatt-Viljoen syndrome

Radiation myelitis

Radiation proctitis

Radiation-induced disorder

Radiation-induced plexopathy

Radiculomegaly of canine teeth- congenital cataract

Marashi-Gorlin syndrome

Radio-renal syndrome

Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

ATRUS syndrome

Radio-ulnar synostosis-retinal pigment abnormalities syndrome

Buntinx-Lormans-Martin syndrome

Radioulnar synostosis-developmental delay-hypotonia syndrome

Der Kaloustian-McIntosh-Silver syndrome

Radioulnar synostosis-microcephaly-scoliosis syndrome

Giuffré-Tsukahara syndrome · Tsukahara syndrome

Ramon syndrome

Cherubism-gingival fibromatosis-intellectual disability syndrome

Ramos-Arroyo syndrome

Corneal anesthesia-hearing loss-intellectual disability syndrome · Corneal anesthesia-deafness-intellectual disability syndrome

Ramsay Hunt syndrome

Facial nerve palsy due to herpes zoster infection · Facial nerve paralysis due to VZV

RAPADILINO syndrome