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"

11 matching diseasesClear search ×

Specific language disorder

Dysphasia

ORPHA:211053

Familial developmental dysphasia

Billard-Toutain-Maheut syndrome · FOXP2-associated dysphasia

ORPHA:1799

Caudal regression syndrome

Caudal dysgenesis syndrome · Caudal dysplasia

ORPHA:3027

Dentin dysplasia

ORPHA:1653

Dysphagia lusoria

ORPHA:99082

Dysplasia of head of femur, Meyer type

Meyer dysplasia · DECF

ORPHA:168621

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