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"

18 matching diseasesClear search ×

Paroxysmal nocturnal hemoglobinuria

Marchiafava-Micheli disease · Marchiafava-Micheli syndrome

ORPHA:447

Autosomal recessive spastic paraplegia type 21

Mast syndrome · SPG21

ORPHA:101001

Cataract-intellectual disability-hypogonadism syndrome

Martsolf syndrome

ORPHA:1387

Congenital insensitivity to pain syndrome, Marsili type

Marsili syndrome

ORPHA:653728

Marcus-Gunn syndrome

Jaw-winking syndrome · Mandibulo-palpebral synkinesis-ptosis syndrome

ORPHA:91412

Marfan syndrome

MFS

ORPHA:558

Marshall syndrome

ORPHA:560

MASA syndrome

Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome

ORPHA:2466

MASS syndrome

Mitral valve-aorta-skeleton-skin syndrome

ORPHA:99715

Michels syndrome

3MC1 syndrome · Oculopalatoskeletal syndrome

ORPHA:2506

Micro syndrome

WARBM · Warburg micro syndrome

ORPHA:2510

Microcephaly-capillary malformation syndrome

MIC-CAP syndrome · MIC-CM syndrome

ORPHA:294016

Mitchell Syndrome

ORPHA:631248

Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome

MARCH syndrome

ORPHA:500135

Oculotrichoanal syndrome

MOTA syndrome · Manitoba oculotrichoanal syndrome

ORPHA:2717

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis

FHHNC · Michellis-Castrillo syndrome

ORPHA:306516

RIN2 syndrome

MACS syndrome · Macrocephaly-alopecia-cutis laxa-scoliosis syndrome

ORPHA:217335

Weill-Marchesani syndrome

ORPHA:3449