Orphanet Datenbank · Orphadata CC-BY-4.0
Seltene Erkrankungen (Orphan)
Komplette Bibliothek mit 7,547 Erkrankungen — Genetik, Phänotypen, Epidemiologie, Orphan-Arzneimittel und Studien.
7,547
Erkrankungen
4,552
Gene
8,700
Phänotypen
140
Regionen
Alle (7,547)Bio-AnomalieKategorieKlinische GruppeKlinischer SubtypClinical syndromeErkrankungÄtiologischer SubtypHistopathologischer SubtypMalformationssyndromMorphologische AnomalieBesondere klinische Situation
Laryngotracheoesophageal cleft type 2
Infancy, Neonatal
Laryngotracheoesophageal cleft type 3
Infancy, Neonatal
Laryngotracheoesophageal cleft type 4
Infancy, Neonatal
Larynx atresia
Autosomal dominant
All ages
Lassa fever
All ages
Late infantile CACH syndrome
Autosomal recessive
Childhood
Late infantile CLN1 disease
Autosomal recessive
Late infantile CLN10 disease
Autosomal recessive
Late infantile CLN2 disease
Autosomal recessive
Late infantile CLN5 disease
Late infantile CLN6 disease
Autosomal recessive
Late infantile CLN8 disease
Autosomal recessive
Late-infantile/juvenile Krabbe disease
Autosomal recessive
Adolescent, Childhood, Infancy
Late-onset Steinert myotonic dystrophy
Autosomal dominant
Elderly
Late-onset citrullinemia type I
Autosomal recessive
Adult
Late-onset combined immunodeficiency due to ICOS deficiency
Autosomal recessive
Late-onset combined immunodeficiency due to ICOSL deficiency
Late-onset distal myopathy, Markesbery-Griggs type
Autosomal dominant
Adult
Late-onset familial hypoaldosteronism
Adult, Elderly
Late-onset focal dermal elastosis
Not applicable
Adult
Late-onset idiopathic chronic pancreatitis
Not applicable
Late-onset isolated ACTH deficiency
Not applicable
Adult
Late-onset junctional epidermolysis bullosa
Autosomal recessive
Adolescent, Adult, Childhood
Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
Unknown
Childhood