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"

130 matching diseasesClear search ×

OBSOLETE: Maculopapular lupus rash

ORPHA:90287

OBSOLETE: Metabolic disease with macular cherry-red spot

ORPHA:98714

OBSOLETE: Microcornea-corectopia-macular hypoplasia syndrome

ORPHA:2535

OBSOLETE: Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome

OBSOLETE: Heide syndrome

ORPHA:2787

OBSOLETE: Syndromic macular dystrophy

ORPHA:519323

OBSOLETE: Unclassified primitive or secondary maculopathy

ORPHA:98666

OBSOLETE: X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome

ORPHA:83648

Occult macular dystrophy

OCMD · OMD

ORPHA:247834

Oligocone trichromacy

Oligocone syndrome

ORPHA:75378

Overgrowth-macrocephaly-facial dysmorphism syndrome

ORPHA:137634

Pectus excavatum-macrocephaly-dysplastic nails syndrome

Zori-Stalker-Williams syndrome

ORPHA:2835

Persistent placoid maculopathy

ORPHA:97341

Plasmacytoma

Solitary plasmacytoma

ORPHA:86855

Primary cutaneous plasmacytosis

ORPHA:451602

Primary plasmacytoma of the bone

ORPHA:100021

Progressive external ophthalmoplegia-myopathy-emaciation syndrome

Mitochondrial DNA maintenance syndrome due to MGME1 deficiency · PEO-myopathy-emaciation syndrome

ORPHA:352447

Rare carcinoma of stomach

Rare gastric carcinoma

ORPHA:423771

Rare epithelial tumor of stomach

Rare gastric epithelial tumor

ORPHA:63443

Rare genetic macular disorder

ORPHA:522574

Rare idiopathic macular telangiectasia

ORPHA:482092

Rare macular disorder

ORPHA:519313

Retinal macular dystrophy type 2

MCDR2

ORPHA:319640

Seizures-scoliosis-macrocephaly syndrome

SSM syndrome

ORPHA:466926

Severe autosomal recessive macrothrombocytopenia

ORPHA:438207

Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome

ORPHA:363686

Spondyloepiphyseal dysplasia, MacDermot type

Spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome · Spondyloepiphyseal dysplasia-myopia-sensorineural hearing loss syndrome

ORPHA:163668

Squamous cell carcinoma of the stomach

Gastric squamous cell carcinoma

ORPHA:418959

Telangiectasia macularis eruptiva perstans

ORPHA:90389

Torpedo Maculopathy

Solitary hypopigmented nevus of the retinal pigment epithelium · TM

ORPHA:674935

Toxic maculopathy due to antimalarial drugs

ORPHA:279894

Undifferentiated carcinoma of stomach

Undifferentiated gastric carcinoma

ORPHA:423786

Waldenström macroglobulinemia

ORPHA:33226

X-linked intellectual disability-macrocephaly-macroorchidism syndrome

Johnson syndrome

ORPHA:85320

X-linked intellectual disability-psychosis-macroorchidism syndrome

Lindsay-Burn syndrome · PPM-X

ORPHA:3077