MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen

Angelman syndrome due to a point mutation

ORPHA:411511Ätl. subt.
Not applicable

Angelman syndrome due to imprinting defect in 15q11-q13

ORPHA:411515Ätl. subt.
Not applicable

Angelman syndrome due to maternal 15q11q13 deletion

ORPHA:98794Ätl. subt.

Angelman syndrome due to paternal uniparental disomy of chromosome 15

ORPHA:98795Ätl. subt.

Angiocentric glioma

ORPHA:251671Kr.

Angioimmunoblastic T-cell lymphoma

ORPHA:86886Kr.
Not applicable

Angioma serpiginosum

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

Angiomatoid fibrous histiocytoma

ORPHA:569164Kr.

Angiosarcoma

ORPHA:263413Kr.
Not applicable

Angiostrongyliasis

ORPHA:74Kr.
Not applicable

Angora hair nevus

ORPHA:370039Kr.
Not applicable, Unknown

Aniridia-absent patella syndrome

ORPHA:1069Malf.
Autosomal dominant

Aniridia-cerebellar ataxia-intellectual disability syndrome

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

Aniridia-intellectual disability syndrome

ORPHA:1068Malf.
Autosomal dominant

Aniridia-ptosis-intellectual disability-familial obesity syndrome

ORPHA:1067Malf.
Autosomal dominant

Aniridia-renal agenesis-psychomotor retardation syndrome

ORPHA:1064Malf.
Autosomal recessive

Anisakiasis

ORPHA:1070Kr.

Ankyloblepharon filiforme adnatum-cleft palate syndrome

ORPHA:1072Kl. subt.
Autosomal dominant

Ankyloblepharon filiforme adnatum-imperforate anus syndrome

ORPHA:1074Kl. subt.
Unknown

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

ORPHA:1071Malf.
Autosomal dominant

Ankylosing vertebral hyperostosis with tylosis

ORPHA:2206Malf.
Autosomal dominant

Ankylostomiasis

ORPHA:78Kr.
Not applicable

Annular atrophic lichen planus

ORPHA:254411Kr.

Annular epidermolytic ichthyosis

ORPHA:281139Kr.
Autosomal dominant