MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome

ORPHA:1192Мальформация
Autosomal recessive

Athyreosis

ORPHA:95713Морф. аномалия
Autosomal dominant

Atkin-Flaitz syndrome

ORPHA:1193Мальформация
X-linked dominant

Atopic keratoconjunctivitis

ORPHA:163934Заболевание
Not applicable

Atresia of urethra

ORPHA:105Морф. аномалия
Not applicable

Atrial septal defect, coronary sinus type

ORPHA:99104Клин. подтип

Atrial septal defect, ostium primum type

ORPHA:99106Клин. подтип
Autosomal dominant, Not applicable

Atrial septal defect, ostium secundum type

ORPHA:99103Клин. подтип
Autosomal dominant, Not applicable

Atrial septal defect, sinus venosus type

ORPHA:99105Клин. подтип
Autosomal dominant, Not applicable

Atrial septal defect-atrioventricular conduction defects syndrome

ORPHA:1479Мальформация
Autosomal dominant

Atrichia with papular lesions

ORPHA:86819Заболевание
Autosomal recessive

Atrioventricular defect-blepharophimosis-radial and anal defect syndrome

ORPHA:1352Мальформация

Atrophic lichen planus

ORPHA:254449Заболевание

Atrophic papulosis

ORPHA:656071Заболевание

Atrophoderma of Pasini and Pierini

ORPHA:658810Заболевание

Atrophoderma vermiculata

ORPHA:79100Заболевание
Autosomal recessive, Unknown

Attenuated Chédiak-Higashi syndrome

ORPHA:352723Заболевание
Autosomal recessive

Attenuated familial adenomatous polyposis

ORPHA:220460Заболевание
Autosomal dominant, Autosomal recessive

Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome

ORPHA:544628Заболевание
Autosomal dominant

Atypical Gaucher disease due to saposin C deficiency

ORPHA:309252Клин. подтип
Autosomal recessive

Atypical Meigs syndrome

ORPHA:314466Clinical syndrome
Not applicable

Atypical Norrie disease due to Xp11.3 microdeletion

ORPHA:261501Мальформация
Not applicable

Atypical Rett syndrome

ORPHA:3095Заболевание
Autosomal dominant, X-linked dominant

Atypical Timothy syndrome

ORPHA:595109Клин. подтип
Autosomal dominant