MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
727 diseases matched (Clin. sub.) Reset

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

ORPHA:308684Clin. sub.
Autosomal recessive

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

ORPHA:308698Clin. sub.
Autosomal recessive

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

ORPHA:308670Clin. sub.
Autosomal recessive

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

ORPHA:308655Clin. sub.
Autosomal recessive

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

ORPHA:308638Clin. sub.
Autosomal recessive

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

ORPHA:308621Clin. sub.
Autosomal recessive

Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency

ORPHA:284435Clin. sub.
Autosomal dominant, Autosomal recessive

Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

ORPHA:284426Clin. sub.
Autosomal recessive

Goblet cell carcinoma

ORPHA:329984Clin. sub.
Not applicable

Gorlin-Chaudhry-Moss syndrome

ORPHA:2095Clin. sub.
Autosomal recessive

Griscelli syndrome type 1

ORPHA:79476Clin. sub.
Autosomal recessive

Griscelli syndrome type 2

ORPHA:79477Clin. sub.
Autosomal recessive

Griscelli syndrome type 3

ORPHA:79478Clin. sub.
Autosomal recessive

HHV-8-associated multicentric Castleman disease

ORPHA:570438Clin. sub.

HNF1B-related autosomal dominant tubulointerstitial kidney disease

ORPHA:93111Clin. sub.
Autosomal dominant

HSD10 disease, atypical type

ORPHA:85295Clin. sub.
X-linked dominant

HSD10 disease, infantile type

ORPHA:391428Clin. sub.
X-linked dominant

HSD10 disease, neonatal type

ORPHA:391457Clin. sub.
X-linked dominant

Hamel cerebro-palato-cardiac syndrome

ORPHA:93946Clin. sub.
X-linked recessive

Hemoglobin E-beta-thalassemia intermedia

ORPHA:715125Clin. sub.
Autosomal recessive

Hemoglobin E-beta-thalassemia major

ORPHA:715128Clin. sub.
Autosomal recessive

Hemoglobin Lepore-beta-thalassemia intermedia

ORPHA:715135Clin. sub.
Autosomal recessive

Hemoglobin Lepore-beta-thalassemia major

ORPHA:715140Clin. sub.
Autosomal recessive

Hereditary North American Indian childhood cirrhosis

ORPHA:168583Clin. sub.
Autosomal recessive