MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Angelman syndrome due to a point mutation

ORPHA:411511Этиол. подтип
Not applicable

Angelman syndrome due to imprinting defect in 15q11-q13

ORPHA:411515Этиол. подтип
Not applicable

Angelman syndrome due to maternal 15q11q13 deletion

ORPHA:98794Этиол. подтип

Angelman syndrome due to paternal uniparental disomy of chromosome 15

ORPHA:98795Этиол. подтип

Angiocentric glioma

ORPHA:251671Заболевание

Angioimmunoblastic T-cell lymphoma

ORPHA:86886Заболевание
Not applicable

Angioma serpiginosum

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

Angiomatoid fibrous histiocytoma

ORPHA:569164Заболевание

Angiosarcoma

ORPHA:263413Заболевание
Not applicable

Angiostrongyliasis

ORPHA:74Заболевание
Not applicable

Angora hair nevus

ORPHA:370039Заболевание
Not applicable, Unknown

Aniridia-absent patella syndrome

ORPHA:1069Мальформация
Autosomal dominant

Aniridia-cerebellar ataxia-intellectual disability syndrome

ORPHA:1065Мальформация
Autosomal dominant, Autosomal recessive, Not applicable

Aniridia-intellectual disability syndrome

ORPHA:1068Мальформация
Autosomal dominant

Aniridia-ptosis-intellectual disability-familial obesity syndrome

ORPHA:1067Мальформация
Autosomal dominant

Aniridia-renal agenesis-psychomotor retardation syndrome

ORPHA:1064Мальформация
Autosomal recessive

Anisakiasis

ORPHA:1070Заболевание

Ankyloblepharon filiforme adnatum-cleft palate syndrome

ORPHA:1072Клин. подтип
Autosomal dominant

Ankyloblepharon filiforme adnatum-imperforate anus syndrome

ORPHA:1074Клин. подтип
Unknown

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

ORPHA:1071Мальформация
Autosomal dominant

Ankylosing vertebral hyperostosis with tylosis

ORPHA:2206Мальформация
Autosomal dominant

Ankylostomiasis

ORPHA:78Заболевание
Not applicable

Annular atrophic lichen planus

ORPHA:254411Заболевание

Annular epidermolytic ichthyosis

ORPHA:281139Заболевание
Autosomal dominant