MEDLIB
Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Angelman syndrome due to a point mutation

ORPHA:411511Этио. под.
Not applicable

Angelman syndrome due to imprinting defect in 15q11-q13

ORPHA:411515Этио. под.
Not applicable

Angelman syndrome due to maternal 15q11q13 deletion

ORPHA:98794Этио. под.

Angelman syndrome due to paternal uniparental disomy of chromosome 15

ORPHA:98795Этио. под.

Angiocentric glioma

ORPHA:251671Ауру

Angioimmunoblastic T-cell lymphoma

ORPHA:86886Ауру
Not applicable

Angioma serpiginosum

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

Angiomatoid fibrous histiocytoma

ORPHA:569164Ауру

Angiosarcoma

ORPHA:263413Ауру
Not applicable

Angiostrongyliasis

ORPHA:74Ауру
Not applicable

Angora hair nevus

ORPHA:370039Ауру
Not applicable, Unknown

Aniridia-absent patella syndrome

ORPHA:1069Мальф.
Autosomal dominant

Aniridia-cerebellar ataxia-intellectual disability syndrome

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

Aniridia-intellectual disability syndrome

ORPHA:1068Мальф.
Autosomal dominant

Aniridia-ptosis-intellectual disability-familial obesity syndrome

ORPHA:1067Мальф.
Autosomal dominant

Aniridia-renal agenesis-psychomotor retardation syndrome

ORPHA:1064Мальф.
Autosomal recessive

Anisakiasis

ORPHA:1070Ауру

Ankyloblepharon filiforme adnatum-cleft palate syndrome

ORPHA:1072Клин. под.
Autosomal dominant

Ankyloblepharon filiforme adnatum-imperforate anus syndrome

ORPHA:1074Клин. под.
Unknown

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

ORPHA:1071Мальф.
Autosomal dominant

Ankylosing vertebral hyperostosis with tylosis

ORPHA:2206Мальф.
Autosomal dominant

Ankylostomiasis

ORPHA:78Ауру
Not applicable

Annular atrophic lichen planus

ORPHA:254411Ауру

Annular epidermolytic ichthyosis

ORPHA:281139Ауру
Autosomal dominant