MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
727 Erkrankungen gefunden (Kl. subt.) Zurücksetzen

Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form

ORPHA:308684Kl. subt.
Autosomal recessive

Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form

ORPHA:308698Kl. subt.
Autosomal recessive

Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form

ORPHA:308670Kl. subt.
Autosomal recessive

Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form

ORPHA:308655Kl. subt.
Autosomal recessive

Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form

ORPHA:308638Kl. subt.
Autosomal recessive

Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form

ORPHA:308621Kl. subt.
Autosomal recessive

Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency

ORPHA:284435Kl. subt.
Autosomal dominant, Autosomal recessive

Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

ORPHA:284426Kl. subt.
Autosomal recessive

Goblet cell carcinoma

ORPHA:329984Kl. subt.
Not applicable

Gorlin-Chaudhry-Moss syndrome

ORPHA:2095Kl. subt.
Autosomal recessive

Griscelli syndrome type 1

ORPHA:79476Kl. subt.
Autosomal recessive

Griscelli syndrome type 2

ORPHA:79477Kl. subt.
Autosomal recessive

Griscelli syndrome type 3

ORPHA:79478Kl. subt.
Autosomal recessive

HHV-8-associated multicentric Castleman disease

ORPHA:570438Kl. subt.

HNF1B-related autosomal dominant tubulointerstitial kidney disease

ORPHA:93111Kl. subt.
Autosomal dominant

HSD10 disease, atypical type

ORPHA:85295Kl. subt.
X-linked dominant

HSD10 disease, infantile type

ORPHA:391428Kl. subt.
X-linked dominant

HSD10 disease, neonatal type

ORPHA:391457Kl. subt.
X-linked dominant

Hamel cerebro-palato-cardiac syndrome

ORPHA:93946Kl. subt.
X-linked recessive

Hemoglobin E-beta-thalassemia intermedia

ORPHA:715125Kl. subt.
Autosomal recessive

Hemoglobin E-beta-thalassemia major

ORPHA:715128Kl. subt.
Autosomal recessive

Hemoglobin Lepore-beta-thalassemia intermedia

ORPHA:715135Kl. subt.
Autosomal recessive

Hemoglobin Lepore-beta-thalassemia major

ORPHA:715140Kl. subt.
Autosomal recessive

Hereditary North American Indian childhood cirrhosis

ORPHA:168583Kl. subt.
Autosomal recessive