Rare Disease Library

Multiple epiphyseal dysplasia type 4

Autosomal recessive multiple epiphyseal dysplasia · EDM4

Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form

Epidermolysis bullosa simplex, Koebner type · Epidermolysis bullosa simplex, Köbner type

Autosomal dominant intermediate Charcot-Marie-Tooth disease

CMTDI

Autosomal dominant intermediate Charcot-Marie-Tooth disease type A

CMTDIA

Autosomal dominant intermediate Charcot-Marie-Tooth disease type B

CMTDIB

Autosomal dominant intermediate Charcot-Marie-Tooth disease type C

CMTDIC

Autosomal dominant intermediate Charcot-Marie-Tooth disease type D

CMTDID

Autosomal dominant intermediate Charcot-Marie-Tooth disease type E

CMTDIE · Charcot-Marie-Tooth disease-nephropathy syndrome

Autosomal dominant intermediate Charcot-Marie-Tooth disease type F

CMTDIF

Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain

Autosomal dominant intermediate CMT disease with neuropathic pain

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

Conductive deafness-malformed external ear syndrome

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

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

OBSOLETE: Intermediate isolated anorectal malformation

OBSOLETE: Intermediate stomatocytosis syndrome

Pineal parenchymal tumor of intermediate differentiation

PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement

PLEC-related intermediate EBS without extracutaneous involvement

PRKAR1B-related neurodegenerative dementia with intermediate filaments