MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
1,772 Erkrankungen gefunden (Malf.) Zurücksetzen

Cantú syndrome

ORPHA:1517Malf.
Autosomal dominant, Not applicable

Cardiac anomalies-heterotaxy syndrome

ORPHA:137628Malf.
Autosomal dominant

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

ORPHA:228410Malf.
Autosomal dominant

Cardiocranial syndrome, Pfeiffer type

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

Cardiofaciocutaneous syndrome

ORPHA:1340Malf.
Autosomal dominant

Cardiospondylocarpofacial syndrome

ORPHA:3238Malf.
Autosomal dominant

Carey-Fineman-Ziter syndrome

ORPHA:1358Malf.
Autosomal recessive

Caroli disease

ORPHA:53035Malf.
Autosomal recessive, Not applicable

Caroli syndrome

ORPHA:480520Malf.
Autosomal recessive

Carpenter syndrome

ORPHA:65759Malf.
Autosomal recessive

Carpotarsal osteochondromatosis

ORPHA:2767Malf.
Autosomal dominant

Cat-eye syndrome

ORPHA:195Malf.
Not applicable

Cataract-aberrant oral frenula-growth delay syndrome

ORPHA:1373Malf.

Cataract-congenital heart disease-neural tube defect syndrome

ORPHA:314993Malf.

Cataract-deafness-hypogonadism syndrome

ORPHA:1383Malf.
Autosomal recessive

Cataract-hypertrichosis-intellectual disability syndrome

ORPHA:1375Malf.
Autosomal recessive

Cataract-intellectual disability-hypogonadism syndrome

ORPHA:1387Malf.
Autosomal recessive

Cataract-microcornea syndrome

ORPHA:1377Malf.
Autosomal dominant, Autosomal recessive

Cataract-nephropathy-encephalopathy syndrome

ORPHA:1380Malf.
Autosomal recessive

Catel-Manzke syndrome

ORPHA:1388Malf.
Autosomal recessive

Caudal appendage-deafness syndrome

ORPHA:1123Malf.

Caudal duplication

ORPHA:1756Malf.
Not applicable

Caudal regression syndrome

ORPHA:3027Malf.
Multigenic/multifactorial, Not applicable

Cenani-Lenz syndrome

ORPHA:3258Malf.
Autosomal recessive