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

Amish infantile epilepsy syndrome

Infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome

ORPHA:171714

Amish lethal microcephaly

ORPHA:99742

Amish nemaline myopathy

ORPHA:98902

Amniotic band syndrome

Congenital constriction ring syndrome · Congenital ring constrictions

ORPHA:295000

Amniotic fluid embolism

ORPHA:617304

Amoebiasis due to Entamoeba histolytica

ORPHA:67

Amoebiasis due to free-living amoebae

ORPHA:68

Amoebic keratitis

ORPHA:67043

Amyloidosis

ORPHA:69

Amyloidosis cutis dyschromia

Amyloidosis cutis dyschromica

ORPHA:319635

Amyopathic dermatomyositis

Dermatomyositis sine myositis

ORPHA:645617

Amyotrophic lateral sclerosis type 4

ALS · ALS4

ORPHA:357043

Anal fistula

ORPHA:228113

Anaplastic astrocytoma

ORPHA:251589

Anaplastic ependymoma

ORPHA:251646

Anaplastic ganglioglioma

ORPHA:251957

Anaplastic large cell lymphoma

ALCL · CD30 positive anaplastic large cell lymphoma

ORPHA:98841

Anaplastic oligoastrocytoma

aMOA

ORPHA:251663

Anaplastic oligodendroglioma

ORPHA:251630

Anaplastic thyroid carcinoma

ORPHA:142

Anaplastic/large cell medulloblastoma

ORPHA:251855

Anastomosing haemangioma

ORPHA:675359

Anauxetic dysplasia

Spondyloepimetaphyseal dysplasia, Menger type · Spondyloepimetaphyseal dysplasia, anauxetic type

ORPHA:93347

Andersen-Tawil syndrome

Andersen syndrome · LQT7

ORPHA:37553

Androgen insensitivity syndrome

AIS · Androgen resistance syndrome

ORPHA:754

ANE syndrome

Alopecia-progressive neurological defect-endocrinopathy syndrome

ORPHA:157954

Aneurysm of sinus of Valsalva

Sinus of Valsalva aneurysm · SOVA

ORPHA:1054

Aneurysm-osteoarthritis syndrome

ORPHA:284984

Aneurysmal bone cyst

ORPHA:480553

Angel-shaped phalango-epiphyseal dysplasia

ASPED

ORPHA:63442

Angelman syndrome

ORPHA:72

Angelman syndrome due to a point mutation

ORPHA:411511

Angelman syndrome due to imprinting defect in 15q11-q13

ORPHA:411515

Angelman syndrome due to maternal 15q11q13 deletion

Angelman syndrome due to maternal monosomy 15q11q13

ORPHA:98794

Angelman syndrome due to paternal uniparental disomy of chromosome 15

UPD(15)pat

ORPHA:98795

Angiocentric glioma

ORPHA:251671

Angioimmunoblastic T-cell lymphoma

AILT · Immunoblastic lymphadenopathy

ORPHA:86886

Angioma serpiginosum

ORPHA:95429

Angiomatoid fibrous histiocytoma

AFH

ORPHA:569164

Angioosteohypotrophic syndrome

Phlebectatic osteohypoplastic angiodysplasia · Servelle-Martorell syndrome

ORPHA:75508

Angiosarcoma

ORPHA:263413

Angiostrongyliasis

ORPHA:74

Angora hair nevus

Schauder syndrome

ORPHA:370039

Aniridia-absent patella syndrome

ORPHA:1069

Aniridia-cerebellar ataxia-intellectual disability syndrome

Gillespie syndrome

ORPHA:1065

Aniridia-intellectual disability syndrome

Walker-Dyson syndrome

ORPHA:1068

Aniridia-ptosis-intellectual disability-familial obesity syndrome

ORPHA:1067

Aniridia-renal agenesis-psychomotor retardation syndrome

Sommer-Rathbun-Battles syndrome

ORPHA:1064