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"

17 matching diseasesClear search ×

Atypical Meigs syndrome

Atypical Demons-Meigs syndrome · Incomplete Meigs syndrome

ORPHA:314466

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

ORPHA:3453

Blepharospasm-oromandibular dystonia syndrome

Meige dystonia · Meige syndrome

ORPHA:93964

Colobomatous macrophthalmia-microcornea syndrome

MACOM syndrome

ORPHA:468672

Complete androgen insensitivity syndrome

CAIS · Complete androgen resistance syndrome

ORPHA:99429

Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome

Mehes syndrome

ORPHA:3038

Meckel syndrome

Dysencephalia splanchnocystica · Meckel-Gruber syndrome

ORPHA:564

MEDNIK syndrome

Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome · Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome

ORPHA:171851

MEGDEL syndrome

3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome · 3-methylglutaconic aciduria with hearing loss-encephalopathy-Leigh-like syndrome

ORPHA:352328

MEHMO syndrome

X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome

ORPHA:85282

Meigs syndrome

Demons-Meigs syndrome

ORPHA:314451

MEND syndrome

Male EBP disorder with neurological defects

ORPHA:401973

Menkes disease

Menkes kinky hair disease · MD

ORPHA:565

MEPAN syndrome

Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome · Autosomal recessive childhood-onset dystonia, DYT29 type

ORPHA:508093

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

ORPHA:588

Pseudo-Meigs syndrome

Pseudo-Demons-Meigs syndrome

ORPHA:314459

Temple syndrome

ORPHA:254516