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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome

ORPHA:488613Порок
Autosomal dominant

Global developmental delay-osteopenia-ectodermal defect syndrome

ORPHA:73223Порок
Unknown

Global developmental delay-speech apraxia-facial dysmorphism-limb and palpebral anomalies syndrome

ORPHA:708178Порок
Autosomal dominant

Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome

ORPHA:480898Заболевание
Autosomal dominant, Autosomal recessive

Glomus tumor

ORPHA:391651Заболевание

Glomuvenous malformation

ORPHA:83454Порок
Autosomal dominant

Glossopalatine ankylosis

ORPHA:141163Порок
Not applicable

Glossopharyngeal neuralgia

ORPHA:221098Заболевание

Glucagonoma

ORPHA:97280Заболевание
Not applicable

Glucose-galactose malabsorption

ORPHA:35710Заболевание
Autosomal recessive

Glutamate-cysteine ligase deficiency

ORPHA:33574Заболевание
Autosomal recessive

Glutaric acidemia type 3

ORPHA:35706Заболевание
Autosomal recessive

Glutaryl-CoA dehydrogenase deficiency

ORPHA:25Заболевание
Autosomal recessive

Glutathione synthetase deficiency

ORPHA:32Заболевание
Autosomal recessive

Glutathione synthetase deficiency with 5-oxoprolinuria

ORPHA:289846Клин. подт.
Autosomal recessive

Glutathione synthetase deficiency without 5-oxoprolinuria

ORPHA:289849Клин. подт.
Autosomal recessive

Glycerol kinase deficiency, adult form

ORPHA:284414Клин. подт.
X-linked recessive

Glycerol kinase deficiency, juvenile form

ORPHA:284411Клин. подт.
X-linked recessive

Glycine encephalopathy

ORPHA:407Заболевание
Autosomal recessive

Glycogen storage disease

ORPHA:79201Кат.

Glycogen storage disease due to acid maltase deficiency

ORPHA:365Заболевание
Autosomal recessive

Glycogen storage disease due to acid maltase deficiency, infantile onset

ORPHA:308552Клин. подт.
Autosomal recessive

Glycogen storage disease due to acid maltase deficiency, late-onset

ORPHA:420429Клин. подт.
Autosomal recessive

Glycogen storage disease due to aldolase A deficiency

ORPHA:57Заболевание
Autosomal recessive