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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome

ORPHA:1192Порок
Autosomal recessive

Athyreosis

ORPHA:95713Морф.
Autosomal dominant

Atkin-Flaitz syndrome

ORPHA:1193Порок
X-linked dominant

Atopic keratoconjunctivitis

ORPHA:163934Заболевание
Not applicable

Atresia of urethra

ORPHA:105Морф.
Not applicable

Atrial septal defect, coronary sinus type

ORPHA:99104Клин. подт.

Atrial septal defect, ostium primum type

ORPHA:99106Клин. подт.
Autosomal dominant, Not applicable

Atrial septal defect, ostium secundum type

ORPHA:99103Клин. подт.
Autosomal dominant, Not applicable

Atrial septal defect, sinus venosus type

ORPHA:99105Клин. подт.
Autosomal dominant, Not applicable

Atrial septal defect-atrioventricular conduction defects syndrome

ORPHA:1479Порок
Autosomal dominant

Atrichia with papular lesions

ORPHA:86819Заболевание
Autosomal recessive

Atrioventricular defect-blepharophimosis-radial and anal defect syndrome

ORPHA:1352Порок

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. подт.
Autosomal recessive

Atypical Meigs syndrome

ORPHA:314466Clinical syndrome
Not applicable

Atypical Norrie disease due to Xp11.3 microdeletion

ORPHA:261501Порок
Not applicable

Atypical Rett syndrome

ORPHA:3095Заболевание
Autosomal dominant, X-linked dominant

Atypical Timothy syndrome

ORPHA:595109Клин. подт.
Autosomal dominant