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

Macular amyloidosis

ORPHA:137814

Macular coloboma-cleft palate-hallux valgus syndrome

ORPHA:91494

Macular corneal dystrophy

Corneal dystrophy Groenouw type II · Fehr corneal dystrophy

ORPHA:98969

Maculopapular cutaneous mastocytosis

Urticaria pigmentosa

ORPHA:79457

MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome

ORPHA:686495

Madras motor neuron disease

MMND

ORPHA:137867

Maffucci syndrome

Multiple Enchondromatosis, Maffucci Type · Multiple Enchondromatosis type II

ORPHA:163634

MAGIC syndrome

Mouth and genital ulcers-inflamed cartilage syndrome

ORPHA:324972

Majeed syndrome

Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome

ORPHA:77297

Mal de débarquement

Disembarkment syndrome · MdD

ORPHA:210272

Mal de Meleda

Meleda disease

ORPHA:87503

Malakoplakia

ORPHA:556

Malan overgrowth syndrome

Sotos syndrome 2

ORPHA:420179

Malaria

ORPHA:673

Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome

Sohval-Soffer syndrome

ORPHA:2234

Male infertility due to acephalic spermatozoa

Acephalic spermatozoa syndrome

ORPHA:529970

Male infertility due to globozoospermia

Round-headed sperm syndrome · Male infertility due to round-headed spermatozoa

ORPHA:171709

Male infertility due to gonadal dysgenesis or sperm disorder

Male infertility due to testicular dysgenesis or sperm disorder

ORPHA:399764

Male infertility due to large-headed multiflagellar polyploid spermatozoa

Male infertility due to macrozoospermia · Macrocephalic sperm head syndrome

ORPHA:137893

Male infertility due to NANOS1 mutation

ORPHA:352613

Male infertility due to obstructive azoospermia of genetic origin

Male infertility due to impaired sperm transport of genetic origin

ORPHA:399998

Male infertility due to sperm disorder

ORPHA:399771

Male infertility due to sperm motility disorder

Male infertility due to asthenozoospermia

ORPHA:399813

Male infertility with azoospermia or oligozoospermia due to single gene mutation

ORPHA:399805

Male infertility with normal virilization due to meiosis defect

Azoospermia due to maturation arrest · Azoospermia due to meiosis defect

ORPHA:217034

Male infertility with spermatogenesis disorder

ORPHA:399775

Male infertility with spermatogenesis disorder due to single gene mutation

ORPHA:399786

Male infertility with teratozoospermia due to single gene mutation

ORPHA:399808

Malformation of the anal canal and the rectum

ORPHA:684757

Malformation of the neurenteric canal, spinal cord and column

ORPHA:268843

Malformation syndrome with hamartosis

Dysmorphologic diseases with phakomatosis

ORPHA:98196

Malformation syndrome with odontal and/or periodontal component

ORPHA:139042

Malformation syndrome with short stature

ORPHA:139021

Malformative syndrome with dentinogenesis imperfecta

ORPHA:180766

Malignancy diagnosed during pregnancy

Cancer diagnosed during pregnancy

ORPHA:289385

Malignant atrophic papulosis

MAP · Cutaneo-muco-intestinal syndrome

ORPHA:679

Malignant epithelial tumor of ovary

Epithelial cancer of ovary · Ovarian epithelial cancer

ORPHA:398934

Malignant epithelial tumor of salivary glands

ORPHA:276145

Malignant germ cell tumor of ovary

MOGCT · Malignant ovarian germ cell tumor

ORPHA:35807

Malignant germ cell tumor of the cervix uteri

Cervical malignant germ cell tumor · Germ cell cancer of the cervix uteri

ORPHA:213837

Malignant germ cell tumor of the corpus uteri

Germ cell cancer of the corpus uteri

ORPHA:213751

Malignant germ cell tumor of the vagina

Vaginal germ cell malignant tumor · Vaginal germ cell cancer

ORPHA:206489

Malignant granulosa cell tumor of the ovary

Granulosa cell cancer · Granulosa cell malignant tumor

ORPHA:99915

Malignant hyperthermia of anesthesia

Hyperthermia of anesthesia

ORPHA:423

Malignant lymphoma with peripheral neuropathy

ORPHA:207046

Malignant mixed epithelial and mesenchymal tumor of cervix uteri

Cervical malignant mixed epithelial and mesenchymal tumor · Mixed epithelial and mesenchymal cancer of cervix uteri

ORPHA:213782

Malignant mixed epithelial and mesenchymal tumor of corpus uteri

Mixed epithelial and mesenchymal cancer of corpus uteri

ORPHA:213589

Malignant mixed Müllerian tumor of the ovary

Ovarian malignant mixed Müllerian tumor · Ovarian carcinosarcoma

ORPHA:213512