Rare Disease Library

Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form

Generalized RDEB, intermediate form · Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis

Autosomal recessive intermediate Charcot-Marie-Tooth disease

RI-CMT

Autosomal recessive intermediate Charcot-Marie-Tooth disease type A

RI-CMT type A

Autosomal recessive intermediate Charcot-Marie-Tooth disease type B

RI-CMT type B

Autosomal recessive intermediate Charcot-Marie-Tooth disease type C

RI-CMT type C

Autosomal recessive intermediate Charcot-Marie-Tooth disease type D

RI-CMT type D

Beta-thalassemia intermedia

Non-transfusion dependent beta-thalassemia · Beta-NTDT

Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy

Mild calf-predominant myopathy

Classic medulloblastoma

Conductive deafness-malformed external ear syndrome

Conductive hearing loss-malformed external ear syndrome · Mengel-Konigsmark syndrome

Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk

CMV disease in patients with impaired cell mediated immunity deemed at risk

Desmoplastic/nodular medulloblastoma

Diaphyseal medullary stenosis-bone malignancy syndrome

Bone dysplasia-medullary fibrosarcoma syndrome · Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome

Extramedullary conus spinal cord lipoma

Extramedullary soft tissue plasmacytoma

Familial median cleft of the upper and lower lips

Familial Mediterranean fever

Benign paroxysmal peritonitis · Benign recurrent polyserositis

Familial nonmedullary thyroid carcinoma

Genetic respiratory or mediastinal malformation

Immune complex mediated vasculitis

Immune-mediated acquired neuromuscular junction disease

Immune-mediated cerebellar ataxia

IMCA · Autoimmune cerebellitis

Immune-mediated necrotizing myopathy

Autoimmune necrotizing myositis · Necrotizing autoimmune myositis

Immune-mediated scleritis

Immune-mediated thrombotic thrombocytopenic purpura

Acquired thrombotic thrombocytopenic purpura · Acquired TTP

Immunoglobulin-mediated membranoproliferative glomerulonephritis

Ig-mediated MPGN · Ig-mediated membranoproliferative glomerulonephritis

Intermediate Charcot-Marie-Tooth disease

Intermediate CMT · Intermediate hereditary motor and sensory neuropathy

Intermediate collagen VI-related muscular dystrophy

Intermediate COL6-RD

Intermediate DEND syndrome

Developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form

Intermediate epidermolysis bullosa simplex with cardiomyopathy

Intermediate EBS with cardiomyopathy

Intermediate generalized junctional epidermolysis bullosa

Generalized junctional epidermolysis bullosa, non-Herlitz type · Intermediate generalized JEB

Intermediate maple syrup urine disease

Intermediate BCKD deficiency · Intermediate MSUD

Intermediate nemaline myopathy

Intermediate osteopetrosis

Autosomal recessive intermediate osteopetrosis

Intermediate severe Salla disease

Intermediate uveitis

IU

Intramedullary non-dysraphic spinal cord lipoma

Intraocular medulloepithelioma

Orbital medulloepithelioma

Isolated adrenal medullary hyperplasia

Isolated AMH

Isolated familial medullary thyroid carcinoma

Hereditary isolated MTC · Isolated familial MTC

Nevus comedonicus syndrome

Non-syndromic respiratory or mediastinal malformation

OBSOLETE: Intermediate isolated anorectal malformation

OBSOLETE: Intermediate stomatocytosis syndrome

OBSOLETE: Mediterranean spotted fever

OBSOLETE: Poliomyelitis in patients with immunodeficiencies deemed at risk

OBSOLETE: Rare disease in physical medicine and rehabilitation

OBSOLETE: Solitary median maxillary central incisor syndrome

OBSOLETE: SMMCI · OBSOLETE: Single upper central incisor