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

Chondrodysplasia punctata

CDP

ORPHA:93442

Chondrodysplasia punctata, tibial-metacarpal type

ORPHA:79346

Chondrodysplasia punctata, Toriello type

Toriello-Higgins-Miller syndrome

ORPHA:79347

Chondrodysplasia with joint dislocations, gPAPP type

gPAPP deficiency

ORPHA:280586

Chondrodysplasia-difference of sex development syndrome

Nivelon-Nivelon-Mabille syndrome · Chondrodysplasia-disorder of sex development syndrome

ORPHA:1422

Chondroectodermal dysplasia with night blindness

ORPHA:319195

Chondromyxoid fibroma

ORPHA:404507

Chondrosarcoma

ORPHA:55880

Chordoid glioma

ORPHA:251674

Chordoma

Notochordal sarcoma

ORPHA:178

Choreoacanthocytosis

ChAc · Chorea-acanthocytosis

ORPHA:2388

Choriocarcinoma of the central nervous system

ORPHA:252015

Choroid plexus carcinoma

ORPHA:251899

Choroid plexus tumor

ORPHA:251896

Choroidal atrophy-alopecia syndrome

Moloney syndrome · Regional choroidal atrophy and alopecia

ORPHA:1433

Choroidal osteoma

ORPHA:674965

Choroideremia

CHM · Tapetochoroidal dystrophy

ORPHA:180

Christianson syndrome

X-linked Angelman-like syndrome

ORPHA:85278

Chromomycosis

Chromoblastomycosis

ORPHA:182

Chromophobe renal cell carcinoma

Chromophobe renal cell adenocarcinoma · Kidney cancer

ORPHA:319303

Chromosomal anomaly with cataract

ORPHA:98642

Chromosomal anomaly with epilepsy as a major feature

ORPHA:166469

Chromosomal disease with overgrowth

ORPHA:93461

Chromosome X structural anomaly syndrome

ORPHA:98159

Chromosome Y microdeletion syndrome

Male infertility due to chromosome Y microdeletion · Microdeletion of the AZF region on the Y chromosome

ORPHA:1646

Chromosome Y structural anomaly syndrome

ORPHA:98158

Chronic acquired demyelinating polyneuropathy

CADP

ORPHA:208974

Chronic actinic dermatitis

Actinic reticuloid · Chronic photosensitivity dermatitis

ORPHA:330064

Chronic atrial and intestinal dysrhythmia syndrome

CAID syndrome · Chronic atrial dysrhythmia-intestinal motility disorder

ORPHA:435988

Chronic beryllium disease

Chronic beryllium lung disease · Berylliosis

ORPHA:133

Chronic bilirubin encephalopathy

CBE · Kernicterus spectrum disorder

ORPHA:529808

Chronic cutaneous lupus erythematosus

ORPHA:163531

Chronic diarrhea due to glucoamylase deficiency

Maltase-glucoamylase deficiency

ORPHA:103907

Chronic diarrhea with villous atrophy

ORPHA:1670

Chronic encephalitis

ORPHA:98255

Chronic endophthalmitis

ORPHA:279891

Chronic enteropathy associated with SLCO2A1 gene

CEAS

ORPHA:468641

Chronic eosinophilic leukemia

ORPHA:168940

Chronic Epstein-Barr virus infection syndrome

Chronic EBV infection syndrome · CAEBV syndrome

ORPHA:2566

Chronic graft versus host disease

ORPHA:99921

Chronic hiccup

ORPHA:396

Chronic infantile diarrhea due to guanylate cyclase 2C overactivity

ORPHA:314373

Chronic inflammatory demyelinating polyneuropathy

CIDP · Chronic inflammatory demyelinating polyradiculoneuropathy

ORPHA:2932

Chronic intervillositis of unknown etiology

CIUE

ORPHA:615970

Chronic intestinal failure

CIF

ORPHA:294422

Chronic intestinal pseudoobstruction syndrome

CIPO · CIP syndrome

ORPHA:2978

Chronic lymphoproliferative disorder of natural killer cells

Chronic NK-cell lymphocytosis · Chronic NK lymphocytosis

ORPHA:512017

Chronic mast cell leukemia

Chronic MCL

ORPHA:566396