MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Capillary malformation-arteriovenous malformation

ORPHA:137667Клин. группа
Autosomal dominant, Not applicable

Capillary-lymphatic-venous malformation with segmental distribution

ORPHA:90308Заболевание
Multigenic/multifactorial, Not applicable

Carbamoyl-phosphate synthetase 1 deficiency

ORPHA:147Заболевание
Autosomal recessive

Carcinoid syndrome

ORPHA:100093Clinical syndrome
Not applicable

Carcinoma of esophagus

ORPHA:70482Клин. группа

Carcinoma of esophagus, salivary gland type

ORPHA:418945Заболевание
Not applicable

Carcinoma of gallbladder and extrahepatic biliary tract

ORPHA:56044Клин. группа
Not applicable

Carcinoma of the ampulla of Vater

ORPHA:300557Заболевание
Not applicable

Carcinosarcoma of the cervix uteri

ORPHA:213787Заболевание

Cardiac anomalies-heterotaxy syndrome

ORPHA:137628Мальформация
Autosomal dominant

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

ORPHA:228410Мальформация
Autosomal dominant

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

ORPHA:664401Этиол. подтип
Autosomal dominant

Cardiac diverticulum

ORPHA:1686Морф. аномалия
Not applicable

Cardiac-urogenital syndrome

ORPHA:647811Заболевание
Autosomal dominant

Cardiac-valvular Ehlers-Danlos syndrome

ORPHA:230851Заболевание
Autosomal recessive

Cardiocranial syndrome, Pfeiffer type

ORPHA:2872Мальформация
Autosomal dominant, Autosomal recessive, Not applicable

Cardiofaciocutaneous syndrome

ORPHA:1340Мальформация
Autosomal dominant

Cardiogenic shock

ORPHA:97292Особая клин. ситуация
Not applicable

Cardiomyopathy-cataract-hip spine disease syndrome

ORPHA:1345Заболевание
Autosomal recessive

Cardiomyopathy-hypotonia-lactic acidosis syndrome

ORPHA:91130Заболевание
Autosomal recessive

Cardiospondylocarpofacial syndrome

ORPHA:3238Мальформация
Autosomal dominant

Carey-Fineman-Ziter syndrome

ORPHA:1358Мальформация
Autosomal recessive

Caribbean parkinsonism

ORPHA:97355Заболевание

Carney complex

ORPHA:1359Заболевание
Autosomal dominant