Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

10 matching diseasesClear search ×

Desbuquois syndrome

Desbuquois dysplasia · DBQD

ORPHA:1425

Caudal regression syndrome

Caudal dysgenesis syndrome · Caudal dysplasia

ORPHA:3027

Dentin dysplasia

DD

ORPHA:1653

Dysplasia of head of femur, Meyer type

Meyer dysplasia · DECF

ORPHA:168621

Dyssegmental dysplasia, Rolland-Desbuquois type

ORPHA:156731

Epiphyseal stippling-osteoclastic hyperplasia syndrome

Pacman dysplasia

ORPHA:1952

Greenberg dysplasia

Hydrops-ectopic calcification-motheaten syndrome · Skeletal dysplasia, Greenberg type

ORPHA:1426

Kniest dysplasia

ORPHA:485

Renal dysplasia

Kidney dysplasia

ORPHA:93108

Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome

SED-BDS · Tattoo dysplasia

ORPHA:163654