MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Duchenne and Becker muscular dystrophy

ORPHA:262Clin. grp.
X-linked recessive

Duchenne muscular dystrophy

ORPHA:98896Disease
X-linked recessive

Duodenal atresia

ORPHA:1203Morph.
Unknown

Duplication of the pituitary gland

ORPHA:314621Morph.
Not applicable

Duplication of urethra

ORPHA:237Morph.

Dural sinus malformation with arteriovenous shunt

ORPHA:97339Morph.

Dyggve-Melchior-Clausen disease

ORPHA:239Disease
Autosomal recessive

Dysbetalipoproteinemia

ORPHA:412Disease
Autosomal dominant, Multigenic/multifactorial

Dyschromatosis symmetrica hereditaria

ORPHA:41Disease
Autosomal dominant

Dyschromatosis universalis hereditaria

ORPHA:241Disease
Autosomal dominant, Autosomal recessive

Dysembryoplastic neuroepithelial tumor

ORPHA:251946Disease
Not applicable

Dysequilibrium syndrome

ORPHA:1766Disease
Autosomal recessive

Dysferlin-related limb-girdle muscular dystrophy R2

ORPHA:268Disease
Autosomal recessive

Dyskeratosis congenita

ORPHA:1775Disease
Autosomal dominant, Autosomal recessive, X-linked recessive

Dysmorphism-cleft palate-loose skin syndrome

ORPHA:1779Malform.

Dysmorphism-conductive hearing loss-heart defect syndrome

ORPHA:289553Malform.
Autosomal dominant

Dysmorphism-pectus carinatum-joint laxity syndrome

ORPHA:2104Malform.
Unknown

Dysmorphism-short stature-deafness-difference of sex development syndrome

ORPHA:2282Malform.
Autosomal recessive

Dysosteosclerosis

ORPHA:1782Malform.
Autosomal recessive, X-linked recessive

Dysostosis with brachydactyly

ORPHA:69028Cat.
Autosomal dominant, Autosomal recessive, X-linked recessive

Dysplasia epiphysealis hemimelica

ORPHA:1822Malform.
Autosomal dominant

Dysplasia of head of femur, Meyer type

ORPHA:168621Disease

Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type

ORPHA:2204Clin. sub.

Dysraphism-cleft lip/palate-limb reduction defects syndrome

ORPHA:2476Malform.