MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 1,772 заболеваний (Мальформация)Сбросить

Short stature-valvular heart disease-characteristic facies syndrome

ORPHA:2868Мальформация
Autosomal dominant

Short stature-webbed neck-heart disease syndrome

ORPHA:2865Мальформация
Unknown

Short stature-wormian bones-dextrocardia syndrome

ORPHA:2863Мальформация

Short tarsus-absence of lower eyelashes syndrome

ORPHA:2832Мальформация
Autosomal dominant

Short ulna-dysmorphism-hypotonia-intellectual disability syndrome

ORPHA:357175Мальформация
Autosomal recessive

Shprintzen-Goldberg syndrome

ORPHA:2462Мальформация
Autosomal dominant, Multigenic/multifactorial, Not applicable

Siegler-Brewer-Carey syndrome

ORPHA:3167Мальформация
Autosomal recessive

Sillence syndrome

ORPHA:3168Мальформация
Autosomal dominant

Simpson-Golabi-Behmel syndrome

ORPHA:373Мальформация
X-linked recessive

Singleton-Merten dysplasia

ORPHA:85191Мальформация
Autosomal dominant

Sirenomelia

ORPHA:3169Мальформация
Not applicable

Skeletal dysplasia-epilepsy-short stature syndrome

ORPHA:1858Мальформация

Smith-Lemli-Opitz syndrome

ORPHA:818Мальформация
Autosomal recessive

Smith-Magenis syndrome

ORPHA:819Мальформация
Autosomal dominant

Spastic paraparesis-deafness syndrome

ORPHA:2815Мальформация

Spastic paraplegia-facial-cutaneous lesions syndrome

ORPHA:2819Мальформация

Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome

ORPHA:521390Мальформация
Autosomal dominant

Spigelian hernia-cryptorchidism syndrome

ORPHA:314432Мальформация
Not applicable

Spina bifida-hypospadias syndrome

ORPHA:3176Мальформация

Spinal arteriovenous metameric syndrome

ORPHA:53721Мальформация
Not applicable

Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome

ORPHA:73245Мальформация
Unknown

Spinocerebellar degeneration-corneal dystrophy syndrome

ORPHA:3177Мальформация
Autosomal recessive

Splenic arteriovenous malformation

ORPHA:693863Мальформация
Not applicable

Splenogonadal fusion-limb defects-micrognathia syndrome

ORPHA:2063Мальформация