MEDLIB
Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome

ORPHA:1192Мальф.
Autosomal recessive

Athyreosis

ORPHA:95713Морф.
Autosomal dominant

Atkin-Flaitz syndrome

ORPHA:1193Мальф.
X-linked dominant

Atopic keratoconjunctivitis

ORPHA:163934Ауру
Not applicable

Atresia of urethra

ORPHA:105Морф.
Not applicable

Atrial septal defect, coronary sinus type

ORPHA:99104Клин. под.

Atrial septal defect, ostium primum type

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

Atrial septal defect, ostium secundum type

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

Atrial septal defect, sinus venosus type

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

Atrial septal defect-atrioventricular conduction defects syndrome

ORPHA:1479Мальф.
Autosomal dominant

Atrichia with papular lesions

ORPHA:86819Ауру
Autosomal recessive

Atrioventricular defect-blepharophimosis-radial and anal defect syndrome

ORPHA:1352Мальф.

Atrophic lichen planus

ORPHA:254449Ауру

Atrophic papulosis

ORPHA:656071Ауру

Atrophoderma of Pasini and Pierini

ORPHA:658810Ауру

Atrophoderma vermiculata

ORPHA:79100Ауру
Autosomal recessive, Unknown

Attenuated Chédiak-Higashi syndrome

ORPHA:352723Ауру
Autosomal recessive

Attenuated familial adenomatous polyposis

ORPHA:220460Ауру
Autosomal dominant, Autosomal recessive

Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome

ORPHA:544628Ауру
Autosomal dominant

Atypical Gaucher disease due to saposin C deficiency

ORPHA:309252Клин. под.
Autosomal recessive

Atypical Meigs syndrome

ORPHA:314466Clinical syndrome
Not applicable

Atypical Norrie disease due to Xp11.3 microdeletion

ORPHA:261501Мальф.
Not applicable

Atypical Rett syndrome

ORPHA:3095Ауру
Autosomal dominant, X-linked dominant

Atypical Timothy syndrome

ORPHA:595109Клин. под.
Autosomal dominant