MEDLIB
Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

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

ORPHA:488613Мальф.
Autosomal dominant

Global developmental delay-osteopenia-ectodermal defect syndrome

ORPHA:73223Мальф.
Unknown

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

ORPHA:708178Мальф.
Autosomal dominant

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

ORPHA:480898Ауру
Autosomal dominant, Autosomal recessive

Glomus tumor

ORPHA:391651Ауру

Glomuvenous malformation

ORPHA:83454Мальф.
Autosomal dominant

Glossopalatine ankylosis

ORPHA:141163Мальф.
Not applicable

Glossopharyngeal neuralgia

ORPHA:221098Ауру

Glucagonoma

ORPHA:97280Ауру
Not applicable

Glucose-galactose malabsorption

ORPHA:35710Ауру
Autosomal recessive

Glutamate-cysteine ligase deficiency

ORPHA:33574Ауру
Autosomal recessive

Glutaric acidemia type 3

ORPHA:35706Ауру
Autosomal recessive

Glutaryl-CoA dehydrogenase deficiency

ORPHA:25Ауру
Autosomal recessive

Glutathione synthetase deficiency

ORPHA:32Ауру
Autosomal recessive

Glutathione synthetase deficiency with 5-oxoprolinuria

ORPHA:289846Клин. под.
Autosomal recessive

Glutathione synthetase deficiency without 5-oxoprolinuria

ORPHA:289849Клин. под.
Autosomal recessive

Glycerol kinase deficiency, adult form

ORPHA:284414Клин. под.
X-linked recessive

Glycerol kinase deficiency, juvenile form

ORPHA:284411Клин. под.
X-linked recessive

Glycine encephalopathy

ORPHA:407Ауру
Autosomal recessive

Glycogen storage disease

ORPHA:79201Сан.

Glycogen storage disease due to acid maltase deficiency

ORPHA:365Ауру
Autosomal recessive

Glycogen storage disease due to acid maltase deficiency, infantile onset

ORPHA:308552Клин. под.
Autosomal recessive

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

ORPHA:420429Клин. под.
Autosomal recessive

Glycogen storage disease due to aldolase A deficiency

ORPHA:57Ауру
Autosomal recessive