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
Shiga toxin-associated hemolytic uremic syndrome
Not applicable
All ages
Short stature due to growth hormone qualitative anomaly
Autosomal recessive
Infancy, Neonatal
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
X-linked recessive
Infancy, Neonatal
Sickle cell S-D Punjab disease
Autosomal recessive
All ages
Sickle cell S-E disease
Autosomal recessive
All ages
Sickle cell S-Lepore disease
Sickle cell S-O Arab disease
Sickle cell S-other specified hemoglobin variant
Single-organ polyarteritis nodosa
Not applicable
Single-system multifocal Langerhans cell histiocytosis
Not applicable
Sporadic porphyria cutanea tarda
Multigenic/multifactorial
Stevens-Johnson syndrome
Not applicable
All ages
Stickler syndrome type 1
Autosomal dominant
Childhood, Infancy, Neonatal
Stickler syndrome type 2
Autosomal dominant
Childhood, Infancy, Neonatal
Streptococcus pneumoniae-associated hemolytic uremic syndrome
All ages
Sub-cortical nodular heterotopia
Antenatal, Infancy, Neonatal
Subependymal nodular heterotopia
Antenatal, Infancy, Neonatal
Synpolydactyly type 1
Autosomal dominant
Synpolydactyly type 2
Autosomal dominant
Systemic polyarteritis nodosa
Not applicable
Tay-Sachs disease, adult form
Autosomal recessive
Tay-Sachs disease, infantile form
Autosomal recessive
Tay-Sachs disease, juvenile form
Autosomal recessive
Telangiectasia macularis eruptiva perstans
Unknown