Rare Disease Library

Multiple epiphyseal dysplasia type 4

Autosomal recessive multiple epiphyseal dysplasia · EDM4

Autosomal dominant otospondylomegaepiphyseal dysplasia

AD OSMED · Stickler syndrome type 3

Autosomal recessive amelia

Autosomal recessive brachyolmia

Brachyolmia, Hobaek/Toledo type

Autosomal recessive complex spastic paraplegia

Autosomal recessive complex HSP · Autosomal recessive complex SPG

Autosomal recessive distal hereditary motor neuropathy

Autosomal recessive distal spinal muscular atrophy · Autosomal recessive dHMN

Autosomal recessive distal myopathy

Autosomal recessive distal renal tubular acidosis

AR dRTA · Autosomal recessive distal RTA

Autosomal recessive dopa-responsive dystonia

Autosomal recessive Segawa syndrome · DYT5b

Autosomal recessive Emery-Dreifuss muscular dystrophy

EDMD3

Autosomal recessive hypohidrotic ectodermal dysplasia

AR-HED

Autosomal recessive limb-girdle muscular dystrophy

Autosomal recessive multiple pterygium syndrome

Autosomal recessive non-lethal multiple pterygium syndrome · EVMPS

Autosomal recessive myogenic arthrogryposis multiplex congenita

Autosomal recessive myogenic AMC · SYNE1-related AMC

Autosomal recessive nail dysplasia

Autosomal recessive omodysplasia

Micromelic dysplasia-dislocation of radius syndrome

Autosomal recessive otospondylomegaepiphyseal dysplasia

OSMED

Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type

Bone dysplasia, lethal Holmgren type

Autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type

Camurati-Engelmann disease

Progressive diaphyseal dysplasia

Cartilage-hair hypoplasia

Autosomal recessive metaphyseal chondrodysplasia · Metaphyseal chondrodysplasia, McKusick type

Congenital hereditary endothelial dystrophy type II

Congenital hereditary endothelial dystrophy type 2 · Infantile hereditary endothelial dystrophy

Generalized pseudohypoaldosteronism type 1

Autosomal recessive pseudohypoaldosteronism type 1 · Autosomal recessive PHA1

Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome

Autosomal recesive ectodermal dysplasia 14 · ARED14

Lethal multiple pterygium syndrome

Autosomal recessive lethal multiple pterygium syndrome · LMPS

Metaphyseal anadysplasia

Maroteaux-Verloes-Stanescu syndrome · Regressive metaphyseal dysplasia

Multiple epiphyseal dysplasia

MED · EDM

Multiple epiphyseal dysplasia and pseudoachondroplasia

Multiple epiphyseal dysplasia due to collagen 9 anomaly

Multiple epiphyseal dysplasia type 1

EDM1 · MED1

Multiple epiphyseal dysplasia type 5

Bilateral hereditary micro-epiphyseal dysplasia · BHMED

Multiple epiphyseal dysplasia type 7

MED7 · EDM7

Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome

Multiple epiphyseal dysplasia, Al-Gazali type

Multiple epiphyseal dysplasia-miniepiphyses syndrome

Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome

Multiple epiphyseal dysplasia, Beighton type

Multiple epiphyseal dysplasia-myopia-hearing loss syndrome · Multiple epiphyseal dysplasia-myopia-deafness syndrome

Multiple epiphyseal dysplasia, Lowry type

Multiple epiphyseal dysplasia with Robin phenotype

Multiple metaphyseal dysplasia

OBSOLETE: Multiple epiphyseal dysplasia, unclassified type

Wolcott-Rallison syndrome

Early-onset diabetes mellitus with multiple epiphyseal dysplasia · WRS