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
Wound botulism
All ages
X-linked Emery-Dreifuss muscular dystrophy
X-linked recessive
Childhood
X-linked hypohidrotic ectodermal dysplasia
X-linked recessive
Childhood, Infancy
X-linked non-syndromic intellectual disability
X-linked recessive
Childhood, Infancy
X-linked thrombocytopenia with normal platelets
X-linked recessive
Xanthinuria type I
Autosomal recessive
Xanthinuria type II
Autosomal recessive
ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion
Autosomal dominant
ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation
Autosomal dominant