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"

10,912 rare diseases

Dendritic cell tumor

ORPHA:98289

Dengue fever

DF · Dengue virus infection

ORPHA:99828

Dense deposit disease

Membranoproliferative glomerulonephritis type 2

ORPHA:93571

Dent disease

Dent syndrome · Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis

ORPHA:1652

Dent disease type 1

ORPHA:93622

Dent disease type 2

ORPHA:93623

Dental ankylosis

Ankylosis of teeth

ORPHA:1077

Dentatorubral pallidoluysian atrophy

DRPLA · Dentatorubropallidoluysian atrophy

ORPHA:101

Dentin dysplasia

DD

ORPHA:1653

Dentin dysplasia type I

DD-I · DTDP1

ORPHA:99789

Dentin dysplasia type II

DD-II · DTDP2

ORPHA:99791

Dentin dysplasia-sclerotic bones syndrome

ORPHA:99792

Dentinogenesis imperfecta

DGI · DGI without OI

ORPHA:49042

Dentinogenesis imperfecta type 2

Capdepont teeth · DGI-2

ORPHA:166260

Dentinogenesis imperfecta type 3

Dentinogenesis imperfecta, Shields type 3

ORPHA:166265

Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome

Dentinogenesis imperfecta-short stature-deafness-intellectual disability syndrome

ORPHA:71267

Dentocutaneous disease with cataract

ORPHA:98649

Denys-Drash syndrome

Wilms tumor-DSD syndrome · Drash syndrome

ORPHA:220

Dermatitis herpetiformis

Duhring-Brocq disease

ORPHA:1656

Dermato-cardio-skeletal syndrome, Borrone type

ORPHA:1266

Dermatofibrosarcoma protuberans

DFSP

ORPHA:31112

Dermatoleukodystrophy

Cutis laxa-leukodystrophy

ORPHA:1659

Dermatomyositis

Adult dermatomyositis

ORPHA:221

Dermatoosteolysis, Kirghizian type

ORPHA:1657

Dermatopathia pigmentosa reticularis

ORPHA:86920

Dermatosparaxis Ehlers-Danlos syndrome

Dermatosparaxis EDS · Ehlers-Danlos syndrome type 7C

ORPHA:1901

Dermis disorder

ORPHA:79377

Dermis elastic tissue disorder

ORPHA:79378

Dermochondrocorneal dystrophy

François syndrome

ORPHA:79149

Dermoid or epidermoid cyst of the central nervous system

Dermoid or epidermoid cyst of the CNS

ORPHA:530033

Dermoodontodysplasia

ORPHA:1660

Dermotrichic syndrome

ORPHA:99688

Desbuquois syndrome

Desbuquois dysplasia · DBQD

ORPHA:1425

Desmin-related myopathy with Mallory body-like inclusions

Early-onset desmin-related myopathy

ORPHA:84132

Desminopathy

Desmin-related myofibrillar myopathy

ORPHA:98909

Desmoid tumor

aggressive fibromatosis · desmoid-type fibromatosis

ORPHA:ORPHA:873

Desmoplastic infantile astrocytoma/ganglioglioma

DIA/DIG

ORPHA:251940

Desmoplastic small round cell tumor

DSRCT

ORPHA:83469

Desmoplastic/nodular medulloblastoma

ORPHA:251863

Desmosterolosis

ORPHA:35107

Desquamative interstitial pneumonia

ORPHA:98852

Developmental and epileptic encephalopathy with spike-wave activation in sleep

CSWS · CSWSS syndrome

ORPHA:725

Developmental and speech delay due to SOX5 deficiency

ORPHA:313892

Developmental anomaly of metabolic origin

ORPHA:139009

Developmental defect of the eye

ORPHA:98553

Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency

Developmental delay due to ALDH6A1 deficiency · Developmental delay due to MMSDH deficiency

ORPHA:289307

Developmental delay with autism spectrum disorder and gait instability

Developmental delay with ASD and gait instability

ORPHA:329195

Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome

HADDS · Hypotonia-ataxia-delayed developmental syndrome

ORPHA:658843