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

Malignant non-dysgerminomatous germ cell tumor of ovary

Non-dysgerminomatous germ cell cancer of ovary

ORPHA:206538

Malignant non-epithelial tumor of ovary

Non-epithelial cancer of ovary · Ovarian malignant non-epithelial tumor

ORPHA:398940

Malignant peripheral nerve sheath tumor

MPNST · Malignant neurilemmoma

ORPHA:3148

Malignant peripheral nerve sheath tumor with perineurial differentiation

Malignant perineurioma

ORPHA:252128

Malignant peritoneal mesothelioma

Diffuse malignant peritoneal mesothelioma · Primary malignant peritoneal mesothelioma

ORPHA:168811

Malignant Sertoli-Leydig cell tumor of the ovary

Androblastoma · Arrhenoblastoma

ORPHA:99916

Malignant sex cord stromal tumor of ovary

Malignant ovarian SCST · Malignant ovarian sex cord-stromal tumor

ORPHA:35808

Malignant teratoma of ovary

Immature teratoma of ovary · Ovarian immature teratoma

ORPHA:398987

Malignant triton tumor

MPNST with rhabdomyosarcomatous differentiation · MTT

ORPHA:252212

Malignant tumor of fallopian tubes

Cancer of fallopian tubes · Malignant tubal tumor

ORPHA:180242

Malignant tumor of penis

Cancer of penis · Malignant penile tumor

ORPHA:398043

Malignant vascular tumor

Metastatic vascular neoplasm

ORPHA:673466

Malonic aciduria

Malonyl-CoA decarboxylase deficiency · Malonic acidemia

ORPHA:943

Malposition of a coronary ostium

ORPHA:99090

Malpuech syndrome

3MC3 syndrome · Malpuech facial clefting syndrome

ORPHA:2453

MALT lymphoma

Extranodal marginal zone B-cell lymphoma · MALToma

ORPHA:52417

Mammary-digital-nail syndrome

MDN syndrome · Onycho-digito-mammary syndrome

ORPHA:238744

MAN1B1-CDG

Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency · Congenital disorder of glycosylation type II due to MAN1B1 deficiency

ORPHA:397941

MAN2B2-CDG

MAN2B2-congenital disorder of glycosylation · Mannosidase alpha class 2B member 2-congenital disorder of glycosylation

ORPHA:695110

Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome

MDPL syndrome · MDP syndrome

ORPHA:363649

Mandibuloacral dysplasia

MAD

ORPHA:2457

Mandibuloacral dysplasia associated to MTX2

Mandibuloacral dysplasia progeroid syndrome · MADaM

ORPHA:647667

Mandibuloacral dysplasia with type A lipodystrophy

MADA

ORPHA:90153

Mandibuloacral dysplasia with type B lipodystrophy

ORPHA:90154

Mandibulofacial dysostosis

Bilateral and symmetric oto-mandibular dysplasia

ORPHA:155899

Mandibulofacial dysostosis with alopecia

MFDA

ORPHA:443995

Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome

Macroblepharon-ectropion-hypertelorism-macrostomia syndrome

ORPHA:357158

Mandibulofacial dysostosis-microcephaly syndrome

MFDM syndrome · Mandibulofacial dysostosis, Guion-Almeida type

ORPHA:79113

Manganese poisoning

Manganese intoxication · Manganism

ORPHA:306682

Mansonelliasis

Mansonellosis

ORPHA:2459

Mantle cell lymphoma

LCM · MCL

ORPHA:52416

Maple syrup urine disease

BCKD deficiency · BCKDH deficiency

ORPHA:511

Marbach-Schaaf neurodevelopmental syndrome

Global developmental delay-hypotonia-high pain tolerance syndrome · MASNS

ORPHA:692173

Marburg acute multiple sclerosis

Acute multiple sclerosis, Marburg type · Acute multiple sclerosis, Marburg variant

ORPHA:228157

Marburg hemorrhagic fever

Green monkey disease · MHF

ORPHA:99826

Marchiafava-Bignami disease

MBD

ORPHA:221074

Marcus-Gunn syndrome

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

ORPHA:91412

Marden-Walker syndrome

ORPHA:2461

Marfan syndrome and Marfan-related disorders

ORPHA:284993

Marfan syndrome type 1

MFS1

ORPHA:284963

Marfan syndrome type 2

MFS2

ORPHA:284973

Marfanoid habitus-autosomal recessive intellectual disability syndrome

Fragoso-Cantú syndrome

ORPHA:2463

Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome

ORPHA:643503

Marfanoid habitus-inguinal hernia-advanced bone age syndrome

ORPHA:314041

Marfanoid syndrome, De Silva type

ORPHA:2464

Margarita island ectodermal dysplasia

ORPHA:90338

Marginal papular palmoplantar keratoderma

Marginal papular palmoplantar hyperkeratosis

ORPHA:307995

Marginal zone lymphoma

ORPHA:300912