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

Meningeal melanocytoma

ORPHA:252046

Meningioma

ORPHA:2495

Meningocele

ORPHA:93968

Meningococcal meningitis

ORPHA:33475

Menke-Hennekam syndrome

ORPHA:592574

Menstrual cycle-dependent periodic fever

Menstrual cycle-dependent febrile episode · Luteal-phase-dependent febrile episode

ORPHA:498251

MEPAN syndrome

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

ORPHA:508093

Mercury poisoning

Hydrargyria · Mercurialism

ORPHA:330021

MERRF

Fukuhara syndrome · Myoclonus epilepsy associated with ragged-red fibres

ORPHA:551

Mesenchymal tumor of small intestine

Mesenchymal tumor of small bowel

ORPHA:423798

Mesial temporal lobe epilepsy with hippocampal sclerosis

MTLE-HS · Hippocampal sclerosis-related mesial temporal lobe epilepsy

ORPHA:99701

Mesoaxial synostotic syndactyly with phalangeal reduction

MSSD · Syndactyly type 9

ORPHA:157801

Mesocardia

Midline heart

ORPHA:95443

Mesomelia-synostoses syndrome

8q13 microdeletion syndrome · Del(8)q(13)

ORPHA:2496

Mesomelic and rhizo-mesomelic dysplasia

ORPHA:93438

Mesomelic dwarfism-cleft palate-camptodactyly syndrome

Reardon-Hall-Slaney syndrome · Mesomelic dysplasia, Reardon type

ORPHA:2631

Mesomelic dwarfism, Reinhardt-Pfeiffer type

Reinhardt-Pfeiffer mesomelic dysplasia · Reinhardt-Pfeiffer syndrome

ORPHA:2634

Mesomelic dysplasia-digital anomalies-intellectual disability syndrome

ORPHA:632603

Mesomelic dysplasia, Kantaputra type

Kantaputra mesomelic dysplasia · MDK

ORPHA:1836

Mesomelic dysplasia, Nievergelt type

Nievergelt syndrome · Mesomelic dwarfism, Nievergelt type

ORPHA:2633

Mesomelic dysplasia, Savarirayan type

Mesomelic dysplasia with absent fibulas and triangular tibias · Triangular tibia-fibular aplasia syndrome

ORPHA:85170

Mesothelioma of the tunica vaginalis

Malignant mesothelioma of the tunica vaginalis

ORPHA:685010

Metabolic disease due to other fatty acid oxidation disorder

ORPHA:309133

Metabolic disease involving other neurotransmitter deficiency

ORPHA:79219

Metabolic disease with cataract

ORPHA:98644

Metabolic disease with intestinal involvement

ORPHA:104013

Metabolic disease with skin involvement

ORPHA:79387

Metabolic diseases with epilepsy

ORPHA:166481

Metabolic myopathy due to lactate transporter defect

Erythrocyte lactate transporter defect

ORPHA:171690

Metabolic neurotransmission anomaly with epilepsy

ORPHA:225707

Metachondromatosis

ORPHA:2499

Metachromatic leukodystrophy, adult form

Arylsulfatase A deficiency, adult form · MLD, adult form

ORPHA:309271

Metachromatic leukodystrophy, juvenile form

Arylsulfatase A deficiency, juvenile form · MLD, juvenile form

ORPHA:309263

Metachromatic leukodystrophy, late infantile form

Arylsulfatase A deficiency, late infantile form · MLD, late infantile form

ORPHA:309256

Metal transport or utilization disorder with epilepsy

ORPHA:225692

Metaphyseal acroscyphodysplasia

Bellini syndrome · Intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome

ORPHA:1240

Metaphyseal anadysplasia

Maroteaux-Verloes-Stanescu syndrome · Regressive metaphyseal dysplasia

ORPHA:1040

Metaphyseal chondrodysplasia, Jansen type

ORPHA:33067

Metaphyseal chondrodysplasia, Kaitila type

ORPHA:166038

Metaphyseal chondrodysplasia, Rosenberg type

Rosenberg-Lohr syndrome

ORPHA:1837

Metaphyseal chondrodysplasia, Schmid type

MDSC · SMCD

ORPHA:174

Metaphyseal chondrodysplasia, Spahr type

ORPHA:2501

Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria

MC-HGA

ORPHA:99646

Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome

Metaphyseal dysostosis-intellectual disability-conductive hearing loss syndrome

ORPHA:2502

Metaphyseal dysplasia without hypotrichosis

Cartilage-hair hypoplasia-like-skeletal dysplasia without hypotrichosis syndrome

ORPHA:1838

Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome

ORPHA:2504

Metaphyseal dysplasia, Braun-Tinschert type

ORPHA:85188

Metaplastic carcinoma of the breast

ORPHA:213531