MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
1,772 diseases matched (Malform.) Reset

Cantú syndrome

ORPHA:1517Malform.
Autosomal dominant, Not applicable

Cardiac anomalies-heterotaxy syndrome

ORPHA:137628Malform.
Autosomal dominant

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

ORPHA:228410Malform.
Autosomal dominant

Cardiocranial syndrome, Pfeiffer type

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

Cardiofaciocutaneous syndrome

ORPHA:1340Malform.
Autosomal dominant

Cardiospondylocarpofacial syndrome

ORPHA:3238Malform.
Autosomal dominant

Carey-Fineman-Ziter syndrome

ORPHA:1358Malform.
Autosomal recessive

Caroli disease

ORPHA:53035Malform.
Autosomal recessive, Not applicable

Caroli syndrome

ORPHA:480520Malform.
Autosomal recessive

Carpenter syndrome

ORPHA:65759Malform.
Autosomal recessive

Carpotarsal osteochondromatosis

ORPHA:2767Malform.
Autosomal dominant

Cat-eye syndrome

ORPHA:195Malform.
Not applicable

Cataract-aberrant oral frenula-growth delay syndrome

ORPHA:1373Malform.

Cataract-congenital heart disease-neural tube defect syndrome

ORPHA:314993Malform.

Cataract-deafness-hypogonadism syndrome

ORPHA:1383Malform.
Autosomal recessive

Cataract-hypertrichosis-intellectual disability syndrome

ORPHA:1375Malform.
Autosomal recessive

Cataract-intellectual disability-hypogonadism syndrome

ORPHA:1387Malform.
Autosomal recessive

Cataract-microcornea syndrome

ORPHA:1377Malform.
Autosomal dominant, Autosomal recessive

Cataract-nephropathy-encephalopathy syndrome

ORPHA:1380Malform.
Autosomal recessive

Catel-Manzke syndrome

ORPHA:1388Malform.
Autosomal recessive

Caudal appendage-deafness syndrome

ORPHA:1123Malform.

Caudal duplication

ORPHA:1756Malform.
Not applicable

Caudal regression syndrome

ORPHA:3027Malform.
Multigenic/multifactorial, Not applicable

Cenani-Lenz syndrome

ORPHA:3258Malform.
Autosomal recessive