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Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер
Табылды 1,772 заболеваний (Мальф.) Қалпына келтіру

Short stature-valvular heart disease-characteristic facies syndrome

ORPHA:2868Мальф.
Autosomal dominant

Short stature-webbed neck-heart disease syndrome

ORPHA:2865Мальф.
Unknown

Short stature-wormian bones-dextrocardia syndrome

ORPHA:2863Мальф.

Short tarsus-absence of lower eyelashes syndrome

ORPHA:2832Мальф.
Autosomal dominant

Short ulna-dysmorphism-hypotonia-intellectual disability syndrome

ORPHA:357175Мальф.
Autosomal recessive

Shprintzen-Goldberg syndrome

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

Siegler-Brewer-Carey syndrome

ORPHA:3167Мальф.
Autosomal recessive

Sillence syndrome

ORPHA:3168Мальф.
Autosomal dominant

Simpson-Golabi-Behmel syndrome

ORPHA:373Мальф.
X-linked recessive

Singleton-Merten dysplasia

ORPHA:85191Мальф.
Autosomal dominant

Sirenomelia

ORPHA:3169Мальф.
Not applicable

Skeletal dysplasia-epilepsy-short stature syndrome

ORPHA:1858Мальф.

Smith-Lemli-Opitz syndrome

ORPHA:818Мальф.
Autosomal recessive

Smith-Magenis syndrome

ORPHA:819Мальф.
Autosomal dominant

Spastic paraparesis-deafness syndrome

ORPHA:2815Мальф.

Spastic paraplegia-facial-cutaneous lesions syndrome

ORPHA:2819Мальф.

Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome

ORPHA:521390Мальф.
Autosomal dominant

Spigelian hernia-cryptorchidism syndrome

ORPHA:314432Мальф.
Not applicable

Spina bifida-hypospadias syndrome

ORPHA:3176Мальф.

Spinal arteriovenous metameric syndrome

ORPHA:53721Мальф.
Not applicable

Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome

ORPHA:73245Мальф.
Unknown

Spinocerebellar degeneration-corneal dystrophy syndrome

ORPHA:3177Мальф.
Autosomal recessive

Splenic arteriovenous malformation

ORPHA:693863Мальф.
Not applicable

Splenogonadal fusion-limb defects-micrognathia syndrome

ORPHA:2063Мальф.