MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Carney complex-trismus-pseudocamptodactyly syndrome

ORPHA:319340Disease
Not applicable

Carney triad

ORPHA:139411Disease

Carney-Stratakis syndrome

ORPHA:97286Disease
Autosomal dominant

Carnitine palmitoyl transferase 1A deficiency

ORPHA:156Disease
Autosomal recessive

Carnitine palmitoyl transferase II deficiency, myopathic form

ORPHA:228302Clin. sub.
Autosomal recessive

Carnitine palmitoyl transferase II deficiency, neonatal form

ORPHA:228308Clin. sub.
Autosomal recessive

Carnitine palmitoyl transferase II deficiency, severe infantile form

ORPHA:228305Clin. sub.
Autosomal recessive

Carnitine palmitoyltransferase II deficiency

ORPHA:157Disease
Autosomal recessive

Carnitine-acylcarnitine translocase deficiency

ORPHA:159Disease
Autosomal recessive

Carnosinase deficiency

ORPHA:1361Bio anom.
Autosomal recessive

Caroli disease

ORPHA:53035Malform.
Autosomal recessive, Not applicable

Caroli syndrome

ORPHA:480520Malform.
Autosomal recessive

Carotid web

ORPHA:698260Disease
Not applicable

Carpenter syndrome

ORPHA:65759Malform.
Autosomal recessive

Carpotarsal osteochondromatosis

ORPHA:2767Malform.
Autosomal dominant

Cartilage-hair hypoplasia

ORPHA:175Disease
Autosomal recessive

Carvajal syndrome

ORPHA:65282Disease
Autosomal dominant, Autosomal recessive

Castleman disease

ORPHA:160Disease
Not applicable

Cat-eye syndrome

ORPHA:195Malform.
Not applicable

Cat-scratch disease

ORPHA:50839Disease
Not applicable

Cataract-aberrant oral frenula-growth delay syndrome

ORPHA:1373Malform.

Cataract-ataxia-deafness syndrome

ORPHA:1368Disease
Autosomal recessive

Cataract-congenital heart disease-neural tube defect syndrome

ORPHA:314993Malform.

Cataract-deafness-hypogonadism syndrome

ORPHA:1383Malform.
Autosomal recessive