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7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
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8 700Фенотиптер
Табылды 727 заболеваний (Клин. под.) Қалпына келтіру

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

ORPHA:308684Клин. под.
Autosomal recessive

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

ORPHA:308698Клин. под.
Autosomal recessive

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

ORPHA:308670Клин. под.
Autosomal recessive

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

ORPHA:308655Клин. под.
Autosomal recessive

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

ORPHA:308638Клин. под.
Autosomal recessive

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

ORPHA:308621Клин. под.
Autosomal recessive

Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency

ORPHA:284435Клин. под.
Autosomal dominant, Autosomal recessive

Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

ORPHA:284426Клин. под.
Autosomal recessive

Goblet cell carcinoma

ORPHA:329984Клин. под.
Not applicable

Gorlin-Chaudhry-Moss syndrome

ORPHA:2095Клин. под.
Autosomal recessive

Griscelli syndrome type 1

ORPHA:79476Клин. под.
Autosomal recessive

Griscelli syndrome type 2

ORPHA:79477Клин. под.
Autosomal recessive

Griscelli syndrome type 3

ORPHA:79478Клин. под.
Autosomal recessive

HHV-8-associated multicentric Castleman disease

ORPHA:570438Клин. под.

HNF1B-related autosomal dominant tubulointerstitial kidney disease

ORPHA:93111Клин. под.
Autosomal dominant

HSD10 disease, atypical type

ORPHA:85295Клин. под.
X-linked dominant

HSD10 disease, infantile type

ORPHA:391428Клин. под.
X-linked dominant

HSD10 disease, neonatal type

ORPHA:391457Клин. под.
X-linked dominant

Hamel cerebro-palato-cardiac syndrome

ORPHA:93946Клин. под.
X-linked recessive

Hemoglobin E-beta-thalassemia intermedia

ORPHA:715125Клин. под.
Autosomal recessive

Hemoglobin E-beta-thalassemia major

ORPHA:715128Клин. под.
Autosomal recessive

Hemoglobin Lepore-beta-thalassemia intermedia

ORPHA:715135Клин. под.
Autosomal recessive

Hemoglobin Lepore-beta-thalassemia major

ORPHA:715140Клин. под.
Autosomal recessive

Hereditary North American Indian childhood cirrhosis

ORPHA:168583Клин. под.
Autosomal recessive