MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen

Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome

ORPHA:1192Malf.
Autosomal recessive

Athyreosis

ORPHA:95713Morph.
Autosomal dominant

Atkin-Flaitz syndrome

ORPHA:1193Malf.
X-linked dominant

Atopic keratoconjunctivitis

ORPHA:163934Kr.
Not applicable

Atresia of urethra

ORPHA:105Morph.
Not applicable

Atrial septal defect, coronary sinus type

ORPHA:99104Kl. subt.

Atrial septal defect, ostium primum type

ORPHA:99106Kl. subt.
Autosomal dominant, Not applicable

Atrial septal defect, ostium secundum type

ORPHA:99103Kl. subt.
Autosomal dominant, Not applicable

Atrial septal defect, sinus venosus type

ORPHA:99105Kl. subt.
Autosomal dominant, Not applicable

Atrial septal defect-atrioventricular conduction defects syndrome

ORPHA:1479Malf.
Autosomal dominant

Atrichia with papular lesions

ORPHA:86819Kr.
Autosomal recessive

Atrioventricular defect-blepharophimosis-radial and anal defect syndrome

ORPHA:1352Malf.

Atrophic lichen planus

ORPHA:254449Kr.

Atrophic papulosis

ORPHA:656071Kr.

Atrophoderma of Pasini and Pierini

ORPHA:658810Kr.

Atrophoderma vermiculata

ORPHA:79100Kr.
Autosomal recessive, Unknown

Attenuated Chédiak-Higashi syndrome

ORPHA:352723Kr.
Autosomal recessive

Attenuated familial adenomatous polyposis

ORPHA:220460Kr.
Autosomal dominant, Autosomal recessive

Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome

ORPHA:544628Kr.
Autosomal dominant

Atypical Gaucher disease due to saposin C deficiency

ORPHA:309252Kl. subt.
Autosomal recessive

Atypical Meigs syndrome

ORPHA:314466Clinical syndrome
Not applicable

Atypical Norrie disease due to Xp11.3 microdeletion

ORPHA:261501Malf.
Not applicable

Atypical Rett syndrome

ORPHA:3095Kr.
Autosomal dominant, X-linked dominant

Atypical Timothy syndrome

ORPHA:595109Kl. subt.
Autosomal dominant