MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen

Congenital short bowel syndrome

ORPHA:2301Morph.
Autosomal recessive, X-linked recessive

Congenital sialidosis type 2

ORPHA:93400Kl. subt.
Autosomal recessive

Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome

ORPHA:369861Kr.
Autosomal recessive

Congenital smooth muscle hamartoma

ORPHA:263435Kr.
Not applicable

Congenital sodium diarrhea

ORPHA:103908Kr.
Autosomal dominant, Autosomal recessive

Congenital stationary night blindness

ORPHA:215Kl. gruppe
Autosomal dominant, Autosomal recessive, X-linked recessive

Congenital stationary night blindness, Riggs type

ORPHA:714096Kr.
Autosomal dominant, Autosomal recessive

Congenital stationary night blindness, Schubert-Bornschein type

ORPHA:714090Kr.
Autosomal recessive, X-linked recessive

Congenital stromal corneal dystrophy

ORPHA:101068Kr.
Autosomal dominant

Congenital subglottic stenosis

ORPHA:141121Malf.

Congenital sucrase-isomaltase deficiency

ORPHA:35122Kr.
Autosomal recessive

Congenital symblepharon

ORPHA:98948Kl. subt.

Congenital syphilis

ORPHA:499009Kr.
Not applicable

Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency

ORPHA:714493Kr.
Autosomal recessive

Congenital thrombotic thrombocytopenic purpura

ORPHA:93583Kl. subt.
Autosomal recessive

Congenital total pulmonary venous return anomaly

ORPHA:99125Morph.
Not applicable

Congenital toxoplasmosis

ORPHA:858Kr.
Not applicable

Congenital tracheal stenosis

ORPHA:141127Morph.
Not applicable

Congenital tracheomalacia

ORPHA:95430Morph.
No data available

Congenital tricuspid stenosis

ORPHA:95459Morph.

Congenital tricuspid valve dysplasia

ORPHA:555874Morph.

Congenital trigeminal anesthesia

ORPHA:231013Kr.
Not applicable

Congenital trochlear nerve palsy

ORPHA:98686Kr.
Not applicable

Congenital tufting enteropathy

ORPHA:92050Kr.
Autosomal recessive