MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome

ORPHA:1192Malform.
Autosomal recessive

Athyreosis

ORPHA:95713Morph.
Autosomal dominant

Atkin-Flaitz syndrome

ORPHA:1193Malform.
X-linked dominant

Atopic keratoconjunctivitis

ORPHA:163934Disease
Not applicable

Atresia of urethra

ORPHA:105Morph.
Not applicable

Atrial septal defect, coronary sinus type

ORPHA:99104Clin. sub.

Atrial septal defect, ostium primum type

ORPHA:99106Clin. sub.
Autosomal dominant, Not applicable

Atrial septal defect, ostium secundum type

ORPHA:99103Clin. sub.
Autosomal dominant, Not applicable

Atrial septal defect, sinus venosus type

ORPHA:99105Clin. sub.
Autosomal dominant, Not applicable

Atrial septal defect-atrioventricular conduction defects syndrome

ORPHA:1479Malform.
Autosomal dominant

Atrichia with papular lesions

ORPHA:86819Disease
Autosomal recessive

Atrioventricular defect-blepharophimosis-radial and anal defect syndrome

ORPHA:1352Malform.

Atrophic lichen planus

ORPHA:254449Disease

Atrophic papulosis

ORPHA:656071Disease

Atrophoderma of Pasini and Pierini

ORPHA:658810Disease

Atrophoderma vermiculata

ORPHA:79100Disease
Autosomal recessive, Unknown

Attenuated Chédiak-Higashi syndrome

ORPHA:352723Disease
Autosomal recessive

Attenuated familial adenomatous polyposis

ORPHA:220460Disease
Autosomal dominant, Autosomal recessive

Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome

ORPHA:544628Disease
Autosomal dominant

Atypical Gaucher disease due to saposin C deficiency

ORPHA:309252Clin. sub.
Autosomal recessive

Atypical Meigs syndrome

ORPHA:314466Clinical syndrome
Not applicable

Atypical Norrie disease due to Xp11.3 microdeletion

ORPHA:261501Malform.
Not applicable

Atypical Rett syndrome

ORPHA:3095Disease
Autosomal dominant, X-linked dominant

Atypical Timothy syndrome

ORPHA:595109Clin. sub.
Autosomal dominant