MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 727 заболеваний (Клин. подтип)Сбросить

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

ORPHA:308684Клин. подтип
Autosomal recessive

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

ORPHA:308698Клин. подтип
Autosomal recessive

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

ORPHA:308670Клин. подтип
Autosomal recessive

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

ORPHA:308655Клин. подтип
Autosomal recessive

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

ORPHA:308638Клин. подтип
Autosomal recessive

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

ORPHA:308621Клин. подтип
Autosomal recessive

Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency

ORPHA:284435Клин. подтип
Autosomal dominant, Autosomal recessive

Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

ORPHA:284426Клин. подтип
Autosomal recessive

Goblet cell carcinoma

ORPHA:329984Клин. подтип
Not applicable

Gorlin-Chaudhry-Moss syndrome

ORPHA:2095Клин. подтип
Autosomal recessive

Griscelli syndrome type 1

ORPHA:79476Клин. подтип
Autosomal recessive

Griscelli syndrome type 2

ORPHA:79477Клин. подтип
Autosomal recessive

Griscelli syndrome type 3

ORPHA:79478Клин. подтип
Autosomal recessive

HHV-8-associated multicentric Castleman disease

ORPHA:570438Клин. подтип

HNF1B-related autosomal dominant tubulointerstitial kidney disease

ORPHA:93111Клин. подтип
Autosomal dominant

HSD10 disease, atypical type

ORPHA:85295Клин. подтип
X-linked dominant

HSD10 disease, infantile type

ORPHA:391428Клин. подтип
X-linked dominant

HSD10 disease, neonatal type

ORPHA:391457Клин. подтип
X-linked dominant

Hamel cerebro-palato-cardiac syndrome

ORPHA:93946Клин. подтип
X-linked recessive

Hemoglobin E-beta-thalassemia intermedia

ORPHA:715125Клин. подтип
Autosomal recessive

Hemoglobin E-beta-thalassemia major

ORPHA:715128Клин. подтип
Autosomal recessive

Hemoglobin Lepore-beta-thalassemia intermedia

ORPHA:715135Клин. подтип
Autosomal recessive

Hemoglobin Lepore-beta-thalassemia major

ORPHA:715140Клин. подтип
Autosomal recessive

Hereditary North American Indian childhood cirrhosis

ORPHA:168583Клин. подтип
Autosomal recessive