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База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Capillary malformation-arteriovenous malformation

ORPHA:137667Clin. grp.
Autosomal dominant, Not applicable

Capillary-lymphatic-venous malformation with segmental distribution

ORPHA:90308Disease
Multigenic/multifactorial, Not applicable

Carbamoyl-phosphate synthetase 1 deficiency

ORPHA:147Disease
Autosomal recessive

Carcinoid syndrome

ORPHA:100093Clinical syndrome
Not applicable

Carcinoma of esophagus

ORPHA:70482Clin. grp.

Carcinoma of esophagus, salivary gland type

ORPHA:418945Disease
Not applicable

Carcinoma of gallbladder and extrahepatic biliary tract

ORPHA:56044Clin. grp.
Not applicable

Carcinoma of the ampulla of Vater

ORPHA:300557Disease
Not applicable

Carcinosarcoma of the cervix uteri

ORPHA:213787Disease

Cardiac anomalies-heterotaxy syndrome

ORPHA:137628Malform.
Autosomal dominant

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

ORPHA:228410Malform.
Autosomal dominant

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

ORPHA:664401Etio. sub.
Autosomal dominant

Cardiac diverticulum

ORPHA:1686Morph.
Not applicable

Cardiac-urogenital syndrome

ORPHA:647811Disease
Autosomal dominant

Cardiac-valvular Ehlers-Danlos syndrome

ORPHA:230851Disease
Autosomal recessive

Cardiocranial syndrome, Pfeiffer type

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

Cardiofaciocutaneous syndrome

ORPHA:1340Malform.
Autosomal dominant

Cardiogenic shock

ORPHA:97292Situation
Not applicable

Cardiomyopathy-cataract-hip spine disease syndrome

ORPHA:1345Disease
Autosomal recessive

Cardiomyopathy-hypotonia-lactic acidosis syndrome

ORPHA:91130Disease
Autosomal recessive

Cardiospondylocarpofacial syndrome

ORPHA:3238Malform.
Autosomal dominant

Carey-Fineman-Ziter syndrome

ORPHA:1358Malform.
Autosomal recessive

Caribbean parkinsonism

ORPHA:97355Disease

Carney complex

ORPHA:1359Disease
Autosomal dominant