MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
1,772 diseases matched (Malform.) Reset

Distal duplication 6p syndrome

ORPHA:1745Malform.

Distal duplication 6q syndrome

ORPHA:96098Malform.

Distal duplication 7p syndrome

ORPHA:96074Malform.

Distal duplication 8q syndrome

ORPHA:96100Malform.

Distal duplication 9q syndrome

ORPHA:96101Malform.

Distal limb deficiencies-micrognathia syndrome

ORPHA:1307Malform.
Autosomal recessive

Distal monosomy 7q36 syndrome

ORPHA:1636Malform.

Dobrow syndrome

ORPHA:3262Malform.

Donnai-Barrow syndrome

ORPHA:2143Malform.
Autosomal recessive

Donohue syndrome

ORPHA:508Malform.
Autosomal recessive

Double uterus-hemivagina-renal agenesis syndrome

ORPHA:3411Malform.
Unknown

Down syndrome

ORPHA:870Malform.
Not applicable

Duane retraction syndrome

ORPHA:233Malform.
Autosomal dominant, Autosomal recessive, Not applicable

Duane retraction syndrome with congenital deafness

ORPHA:529574Malform.
Autosomal dominant

Dubowitz syndrome

ORPHA:235Malform.
Autosomal 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

Dysplasia epiphysealis hemimelica

ORPHA:1822Malform.
Autosomal dominant

Dysraphism-cleft lip/palate-limb reduction defects syndrome

ORPHA:2476Malform.

Dysspondyloenchondromatosis

ORPHA:85198Malform.
Autosomal dominant, Not applicable

EEC syndrome

ORPHA:1896Malform.
Autosomal dominant