MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen

Carney complex-trismus-pseudocamptodactyly syndrome

ORPHA:319340Kr.
Not applicable

Carney triad

ORPHA:139411Kr.

Carney-Stratakis syndrome

ORPHA:97286Kr.
Autosomal dominant

Carnitine palmitoyl transferase 1A deficiency

ORPHA:156Kr.
Autosomal recessive

Carnitine palmitoyl transferase II deficiency, myopathic form

ORPHA:228302Kl. subt.
Autosomal recessive

Carnitine palmitoyl transferase II deficiency, neonatal form

ORPHA:228308Kl. subt.
Autosomal recessive

Carnitine palmitoyl transferase II deficiency, severe infantile form

ORPHA:228305Kl. subt.
Autosomal recessive

Carnitine palmitoyltransferase II deficiency

ORPHA:157Kr.
Autosomal recessive

Carnitine-acylcarnitine translocase deficiency

ORPHA:159Kr.
Autosomal recessive

Carnosinase deficiency

ORPHA:1361Bio-An.
Autosomal recessive

Caroli disease

ORPHA:53035Malf.
Autosomal recessive, Not applicable

Caroli syndrome

ORPHA:480520Malf.
Autosomal recessive

Carotid web

ORPHA:698260Kr.
Not applicable

Carpenter syndrome

ORPHA:65759Malf.
Autosomal recessive

Carpotarsal osteochondromatosis

ORPHA:2767Malf.
Autosomal dominant

Cartilage-hair hypoplasia

ORPHA:175Kr.
Autosomal recessive

Carvajal syndrome

ORPHA:65282Kr.
Autosomal dominant, Autosomal recessive

Castleman disease

ORPHA:160Kr.
Not applicable

Cat-eye syndrome

ORPHA:195Malf.
Not applicable

Cat-scratch disease

ORPHA:50839Kr.
Not applicable

Cataract-aberrant oral frenula-growth delay syndrome

ORPHA:1373Malf.

Cataract-ataxia-deafness syndrome

ORPHA:1368Kr.
Autosomal recessive

Cataract-congenital heart disease-neural tube defect syndrome

ORPHA:314993Malf.

Cataract-deafness-hypogonadism syndrome

ORPHA:1383Malf.
Autosomal recessive