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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Spastic paraplegia type 2

ORPHA:99015Заболевание
X-linked recessive

Spastic paraplegia type 7

ORPHA:99013Заболевание
Autosomal dominant, Autosomal recessive

Spastic paraplegia-Paget disease of bone syndrome

ORPHA:329475Заболевание
Autosomal dominant

Spastic paraplegia-facial-cutaneous lesions syndrome

ORPHA:2819Порок

Spastic paraplegia-glaucoma-intellectual disability syndrome

ORPHA:2818Заболевание
Autosomal recessive

Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome

ORPHA:521390Порок
Autosomal dominant

Spastic paraplegia-nephritis-deafness syndrome

ORPHA:2820Clinical syndrome
Autosomal dominant

Spastic paraplegia-neuropathy-poikiloderma syndrome

ORPHA:2821Заболевание

Spastic paraplegia-optic atrophy-neuropathy syndrome

ORPHA:320406Заболевание
Autosomal recessive

Spastic paraplegia-precocious puberty syndrome

ORPHA:2826Заболевание
Autosomal dominant

Spastic paraplegia-severe developmental delay-epilepsy syndrome

ORPHA:464282Заболевание
Autosomal recessive

Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome

ORPHA:3011Заболевание
Autosomal recessive

Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

ORPHA:447997Заболевание
Autosomal recessive

Spectrin-associated autosomal recessive cerebellar ataxia

ORPHA:352403Заболевание
Autosomal recessive

Spermatocytic seminoma

ORPHA:99865Заболевание
Unknown

Spheroid body myopathy

ORPHA:268129Заболевание
Autosomal dominant

Spigelian hernia-cryptorchidism syndrome

ORPHA:314432Порок
Not applicable

Spina bifida and other spinal dysraphisms

ORPHA:823Кат.
Multigenic/multifactorial, Not applicable

Spina bifida-hypospadias syndrome

ORPHA:3176Порок

Spinal arteriovenous metameric syndrome

ORPHA:53721Порок
Not applicable

Spinal atrophy-ophthalmoplegia-pyramidal syndrome

ORPHA:1217Заболевание

Spinal cord arteriovenous malformation

ORPHA:715284Морф.
Not applicable

Spinal cord injury

ORPHA:90058Ситуация
Not applicable

Spinal dysraphism with a posterior meningocele

ORPHA:268744Клин. гр.
Multigenic/multifactorial, Not applicable