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"

27 matching diseasesClear search ×

Otodental syndrome

Globodontia · Otodental dysplasia

ORPHA:2791

Aarskog-Scott syndrome

Aarskog syndrome · Faciodigitogenital syndrome

ORPHA:915

Campomelic dysplasia and related disorders

Bent bone dysplasia

ORPHA:93439

Caudal regression syndrome

Caudal dysgenesis syndrome · Caudal dysplasia

ORPHA:3027

Cranioectodermal dysplasia

CED · Sensenbrenner syndrome

ORPHA:1515

Dentin dysplasia

DD

ORPHA:1653

Dentin dysplasia type I

DD-I · DTDP1

ORPHA:99789

Dentin dysplasia type II

DD-II · DTDP2

ORPHA:99791

Dysplasia of head of femur, Meyer type

Meyer dysplasia · DECF

ORPHA:168621

Ectodermal dysplasia syndrome

Ectodermal dysplasia

ORPHA:79373

Ellis Van Creveld syndrome

Chondroectodermal dysplasia · Mesodermic dysplasia

ORPHA:289

Epiphyseal stippling-osteoclastic hyperplasia syndrome

Pacman dysplasia

ORPHA:1952

Frontonasal dysplasia

Median cleft face syndrome

ORPHA:250

Greenberg dysplasia

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

ORPHA:1426

Heart-hand syndrome

Atriodigital dysplasia

ORPHA:228184

Hidrotic ectodermal dysplasia

Clouston syndrome

ORPHA:189

Kniest dysplasia

ORPHA:485

Oculo-oto-facial dysplasia

ORPHA:77302

Oculodentodigital dysplasia

Oculo-dento-digital dysplasia · ODOD syndrome

ORPHA:2710

Omodysplasia

ORPHA:2733

Otomandibular dysplasia

ORPHA:155896

Pontine tegmental cap dysplasia

PTCD

ORPHA:269229

Renal dysplasia

Kidney dysplasia

ORPHA:93108

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

ORPHA:800

Segmental odontomaxillary dysplasia

ORPHA:67039

Septo-optic dysplasia spectrum

De Morsier syndrome · SOD

ORPHA:3157

Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome

SED-BDS · Tattoo dysplasia

ORPHA:163654