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"

10,911 rare diseases

OBSOLETE: MECP2 duplication syndrome

OBSOLETE: X-linked intellectual disability-hypotonia-recurrent Infections syndrome · OBSOLETE: Lubs-Arena syndrome

ORPHA:85281

OBSOLETE: Mediterranean spotted fever

ORPHA:101338

OBSOLETE: Melanoma-pancreatic cancer syndrome

ORPHA:51013

OBSOLETE: Mesenchymatous palpebral tumor

ORPHA:98591

OBSOLETE: Metabolic disease associated with ocular features

ORPHA:98710

OBSOLETE: Metabolic disease with cataract

ORPHA:98712

OBSOLETE: Metabolic disease with corneal opacity

ORPHA:98711

OBSOLETE: Metabolic disease with macular cherry-red spot

ORPHA:98714

OBSOLETE: Metabolic disease with pigmentary retinitis

ORPHA:98713

OBSOLETE: Metastatic pituitary hormone deficiency

ORPHA:95504

OBSOLETE: Metastatic spermatocytic seminoma

ORPHA:99866

OBSOLETE: Metatropic dysplasias

ORPHA:93427

OBSOLETE: Methotrexate poisoning

OBSOLETE: Methotrexate intoxication

ORPHA:90070

OBSOLETE: Mickleson syndrome

ORPHA:2507

OBSOLETE: Microcephaly-seizures-developmental delay syndrome

OBSOLETE: MCSZ

ORPHA:228418

OBSOLETE: Microcornea-corectopia-macular hypoplasia syndrome

ORPHA:2535

OBSOLETE: Microlissencephaly type B

ORPHA:101052

OBSOLETE: Micromelic dwarfism, Fryns type

ORPHA:2641

OBSOLETE: Microphthalmia-cataract syndrome

OBSOLETE: Congenital cataract-microphthalmia syndrome

ORPHA:2543

OBSOLETE: Microscopic colitis

ORPHA:58220

OBSOLETE: Miscellaneous metabolic disease associated with bone anomaly

ORPHA:93471

OBSOLETE: Mitochondrial disease with eye involvement

ORPHA:98695

OBSOLETE: Mitochondrial disorder due to a transcription or a translation defect of mitochondrial DNA

OBSOLETE: Mitochondrial disorder due to a transcription or a translation defect of mtDNA

ORPHA:309139

OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA

OBSOLETE: OXPHOS disease due to a duplication of mtDNA · OBSOLETE: OXPHOS disease due to a duplication of mitochondrial DNA

ORPHA:254793

OBSOLETE: Mixed dystonia

ORPHA:71516

OBSOLETE: Moderate spondylodysplastic dysplasia

ORPHA:93435

OBSOLETE: Multicentric Castleman disease

OBSOLETE: MCD · OBSOLETE: Multicentric giant lymph node hyperplasia

ORPHA:93686

OBSOLETE: Multifocal muscular fibrosis-obstructed vessels syndrome

ORPHA:2033

OBSOLETE: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome

OBSOLETE: MCA/variable MR · OBSOLETE: Multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome

ORPHA:102284

OBSOLETE: Multiple epiphyseal dysplasia, unclassified type

ORPHA:93313

OBSOLETE: Multiple fibroadenoma of the breast

OBSOLETE: Mammary polyadenomatosis

ORPHA:50920

OBSOLETE: Multiple ventricular septal defects

ORPHA:99096

OBSOLETE: Myasthenic syndrome with eye involvement

ORPHA:98690

OBSOLETE: Mycobacterium xenopi infection

ORPHA:314946

OBSOLETE: MYH7-related late-onset scapuloperoneal muscular dystrophy

OBSOLETE: MYH7-related late-onset SPMD · OBSOLETE: MYH7-related late-onset scapuloperoneal syndrome

ORPHA:437572

OBSOLETE: Myopathy with eye involvement

ORPHA:98689

OBSOLETE: Myopathy-growth delay-intellectual disability-hypospadias syndrome

ORPHA:2601

OBSOLETE: Myostatin-related muscle hypertrophy

ORPHA:275534

OBSOLETE: Natal teeth-intestinal pseudoobstruction-patent ductus syndrome

ORPHA:1654

OBSOLETE: Neonatal epilepsy syndrome

ORPHA:98257

OBSOLETE: Neonatal membranous glomerulopathy with maternal NEP deficiency

ORPHA:97668

OBSOLETE: Nervous system anomaly with eye involvement

ORPHA:98692

OBSOLETE: Neuroaxonal dystrophy-renal tubular acidosis syndrome

OBSOLETE: Maccario-Mena syndrome

ORPHA:2675

OBSOLETE: Neuroendocrine tumor of small intestine

OBSOLETE: NET of small intestine

ORPHA:506124

OBSOLETE: Neuroepithelioma

ORPHA:2677

OBSOLETE: Neurofibromatosis

ORPHA:68388

OBSOLETE: Neurogenic palpebral tumor

ORPHA:98593

OBSOLETE: Neurological channelopathy

ORPHA:140500