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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:99015Disease
X-linked recessive

Spastic paraplegia type 7

ORPHA:99013Disease
Autosomal dominant, Autosomal recessive

Spastic paraplegia-Paget disease of bone syndrome

ORPHA:329475Disease
Autosomal dominant

Spastic paraplegia-facial-cutaneous lesions syndrome

ORPHA:2819Malform.

Spastic paraplegia-glaucoma-intellectual disability syndrome

ORPHA:2818Disease
Autosomal recessive

Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome

ORPHA:521390Malform.
Autosomal dominant

Spastic paraplegia-nephritis-deafness syndrome

ORPHA:2820Clinical syndrome
Autosomal dominant

Spastic paraplegia-neuropathy-poikiloderma syndrome

ORPHA:2821Disease

Spastic paraplegia-optic atrophy-neuropathy syndrome

ORPHA:320406Disease
Autosomal recessive

Spastic paraplegia-precocious puberty syndrome

ORPHA:2826Disease
Autosomal dominant

Spastic paraplegia-severe developmental delay-epilepsy syndrome

ORPHA:464282Disease
Autosomal recessive

Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome

ORPHA:3011Disease
Autosomal recessive

Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

ORPHA:447997Disease
Autosomal recessive

Spectrin-associated autosomal recessive cerebellar ataxia

ORPHA:352403Disease
Autosomal recessive

Spermatocytic seminoma

ORPHA:99865Disease
Unknown

Spheroid body myopathy

ORPHA:268129Disease
Autosomal dominant

Spigelian hernia-cryptorchidism syndrome

ORPHA:314432Malform.
Not applicable

Spina bifida and other spinal dysraphisms

ORPHA:823Cat.
Multigenic/multifactorial, Not applicable

Spina bifida-hypospadias syndrome

ORPHA:3176Malform.

Spinal arteriovenous metameric syndrome

ORPHA:53721Malform.
Not applicable

Spinal atrophy-ophthalmoplegia-pyramidal syndrome

ORPHA:1217Disease

Spinal cord arteriovenous malformation

ORPHA:715284Morph.
Not applicable

Spinal cord injury

ORPHA:90058Situation
Not applicable

Spinal dysraphism with a posterior meningocele

ORPHA:268744Clin. grp.
Multigenic/multifactorial, Not applicable