MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen

Capillary malformation-arteriovenous malformation

ORPHA:137667Kl. gruppe
Autosomal dominant, Not applicable

Capillary-lymphatic-venous malformation with segmental distribution

ORPHA:90308Kr.
Multigenic/multifactorial, Not applicable

Carbamoyl-phosphate synthetase 1 deficiency

ORPHA:147Kr.
Autosomal recessive

Carcinoid syndrome

ORPHA:100093Clinical syndrome
Not applicable

Carcinoma of esophagus

ORPHA:70482Kl. gruppe

Carcinoma of esophagus, salivary gland type

ORPHA:418945Kr.
Not applicable

Carcinoma of gallbladder and extrahepatic biliary tract

ORPHA:56044Kl. gruppe
Not applicable

Carcinoma of the ampulla of Vater

ORPHA:300557Kr.
Not applicable

Carcinosarcoma of the cervix uteri

ORPHA:213787Kr.

Cardiac anomalies-heterotaxy syndrome

ORPHA:137628Malf.
Autosomal dominant

Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome

ORPHA:228410Malf.
Autosomal dominant

Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation

ORPHA:664401Ätl. subt.
Autosomal dominant

Cardiac diverticulum

ORPHA:1686Morph.
Not applicable

Cardiac-urogenital syndrome

ORPHA:647811Kr.
Autosomal dominant

Cardiac-valvular Ehlers-Danlos syndrome

ORPHA:230851Kr.
Autosomal recessive

Cardiocranial syndrome, Pfeiffer type

ORPHA:2872Malf.
Autosomal dominant, Autosomal recessive, Not applicable

Cardiofaciocutaneous syndrome

ORPHA:1340Malf.
Autosomal dominant

Cardiogenic shock

ORPHA:97292spez. Sit.
Not applicable

Cardiomyopathy-cataract-hip spine disease syndrome

ORPHA:1345Kr.
Autosomal recessive

Cardiomyopathy-hypotonia-lactic acidosis syndrome

ORPHA:91130Kr.
Autosomal recessive

Cardiospondylocarpofacial syndrome

ORPHA:3238Malf.
Autosomal dominant

Carey-Fineman-Ziter syndrome

ORPHA:1358Malf.
Autosomal recessive

Caribbean parkinsonism

ORPHA:97355Kr.

Carney complex

ORPHA:1359Kr.
Autosomal dominant