MEDLIB
Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Capillary malformation-arteriovenous malformation

ORPHA:137667Клин. топ
Autosomal dominant, Not applicable

Capillary-lymphatic-venous malformation with segmental distribution

ORPHA:90308Ауру
Multigenic/multifactorial, Not applicable

Carbamoyl-phosphate synthetase 1 deficiency

ORPHA:147Ауру
Autosomal recessive

Carcinoid syndrome

ORPHA:100093Clinical syndrome
Not applicable

Carcinoma of esophagus

ORPHA:70482Клин. топ

Carcinoma of esophagus, salivary gland type

ORPHA:418945Ауру
Not applicable

Carcinoma of gallbladder and extrahepatic biliary tract

ORPHA:56044Клин. топ
Not applicable

Carcinoma of the ampulla of Vater

ORPHA:300557Ауру
Not applicable

Carcinosarcoma of the cervix uteri

ORPHA:213787Ауру

Cardiac anomalies-heterotaxy syndrome

ORPHA:137628Мальф.
Autosomal dominant

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

ORPHA:228410Мальф.
Autosomal dominant

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

ORPHA:664401Этио. под.
Autosomal dominant

Cardiac diverticulum

ORPHA:1686Морф.
Not applicable

Cardiac-urogenital syndrome

ORPHA:647811Ауру
Autosomal dominant

Cardiac-valvular Ehlers-Danlos syndrome

ORPHA:230851Ауру
Autosomal recessive

Cardiocranial syndrome, Pfeiffer type

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

Cardiofaciocutaneous syndrome

ORPHA:1340Мальф.
Autosomal dominant

Cardiogenic shock

ORPHA:97292Жағдай
Not applicable

Cardiomyopathy-cataract-hip spine disease syndrome

ORPHA:1345Ауру
Autosomal recessive

Cardiomyopathy-hypotonia-lactic acidosis syndrome

ORPHA:91130Ауру
Autosomal recessive

Cardiospondylocarpofacial syndrome

ORPHA:3238Мальф.
Autosomal dominant

Carey-Fineman-Ziter syndrome

ORPHA:1358Мальф.
Autosomal recessive

Caribbean parkinsonism

ORPHA:97355Ауру

Carney complex

ORPHA:1359Ауру
Autosomal dominant