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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы
Найдено 1,772 заболеваний (Malform.) Сброс

Short stature-valvular heart disease-characteristic facies syndrome

ORPHA:2868Malform.
Autosomal dominant

Short stature-webbed neck-heart disease syndrome

ORPHA:2865Malform.
Unknown

Short stature-wormian bones-dextrocardia syndrome

ORPHA:2863Malform.

Short tarsus-absence of lower eyelashes syndrome

ORPHA:2832Malform.
Autosomal dominant

Short ulna-dysmorphism-hypotonia-intellectual disability syndrome

ORPHA:357175Malform.
Autosomal recessive

Shprintzen-Goldberg syndrome

ORPHA:2462Malform.
Autosomal dominant, Multigenic/multifactorial, Not applicable

Siegler-Brewer-Carey syndrome

ORPHA:3167Malform.
Autosomal recessive

Sillence syndrome

ORPHA:3168Malform.
Autosomal dominant

Simpson-Golabi-Behmel syndrome

ORPHA:373Malform.
X-linked recessive

Singleton-Merten dysplasia

ORPHA:85191Malform.
Autosomal dominant

Sirenomelia

ORPHA:3169Malform.
Not applicable

Skeletal dysplasia-epilepsy-short stature syndrome

ORPHA:1858Malform.

Smith-Lemli-Opitz syndrome

ORPHA:818Malform.
Autosomal recessive

Smith-Magenis syndrome

ORPHA:819Malform.
Autosomal dominant

Spastic paraparesis-deafness syndrome

ORPHA:2815Malform.

Spastic paraplegia-facial-cutaneous lesions syndrome

ORPHA:2819Malform.

Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome

ORPHA:521390Malform.
Autosomal dominant

Spigelian hernia-cryptorchidism syndrome

ORPHA:314432Malform.
Not applicable

Spina bifida-hypospadias syndrome

ORPHA:3176Malform.

Spinal arteriovenous metameric syndrome

ORPHA:53721Malform.
Not applicable

Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome

ORPHA:73245Malform.
Unknown

Spinocerebellar degeneration-corneal dystrophy syndrome

ORPHA:3177Malform.
Autosomal recessive

Splenic arteriovenous malformation

ORPHA:693863Malform.
Not applicable

Splenogonadal fusion-limb defects-micrognathia syndrome

ORPHA:2063Malform.