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