MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Angelman syndrome due to a point mutation

ORPHA:411511Etio. sub.
Not applicable

Angelman syndrome due to imprinting defect in 15q11-q13

ORPHA:411515Etio. sub.
Not applicable

Angelman syndrome due to maternal 15q11q13 deletion

ORPHA:98794Etio. sub.

Angelman syndrome due to paternal uniparental disomy of chromosome 15

ORPHA:98795Etio. sub.

Angiocentric glioma

ORPHA:251671Disease

Angioimmunoblastic T-cell lymphoma

ORPHA:86886Disease
Not applicable

Angioma serpiginosum

ORPHA:95429Disease
Autosomal dominant, Not applicable, X-linked recessive

Angiomatoid fibrous histiocytoma

ORPHA:569164Disease

Angiosarcoma

ORPHA:263413Disease
Not applicable

Angiostrongyliasis

ORPHA:74Disease
Not applicable

Angora hair nevus

ORPHA:370039Disease
Not applicable, Unknown

Aniridia-absent patella syndrome

ORPHA:1069Malform.
Autosomal dominant

Aniridia-cerebellar ataxia-intellectual disability syndrome

ORPHA:1065Malform.
Autosomal dominant, Autosomal recessive, Not applicable

Aniridia-intellectual disability syndrome

ORPHA:1068Malform.
Autosomal dominant

Aniridia-ptosis-intellectual disability-familial obesity syndrome

ORPHA:1067Malform.
Autosomal dominant

Aniridia-renal agenesis-psychomotor retardation syndrome

ORPHA:1064Malform.
Autosomal recessive

Anisakiasis

ORPHA:1070Disease

Ankyloblepharon filiforme adnatum-cleft palate syndrome

ORPHA:1072Clin. sub.
Autosomal dominant

Ankyloblepharon filiforme adnatum-imperforate anus syndrome

ORPHA:1074Clin. sub.
Unknown

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

ORPHA:1071Malform.
Autosomal dominant

Ankylosing vertebral hyperostosis with tylosis

ORPHA:2206Malform.
Autosomal dominant

Ankylostomiasis

ORPHA:78Disease
Not applicable

Annular atrophic lichen planus

ORPHA:254411Disease

Annular epidermolytic ichthyosis

ORPHA:281139Disease
Autosomal dominant