MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
1,772 Erkrankungen gefunden (Malf.) Zurücksetzen

Short stature-valvular heart disease-characteristic facies syndrome

ORPHA:2868Malf.
Autosomal dominant

Short stature-webbed neck-heart disease syndrome

ORPHA:2865Malf.
Unknown

Short stature-wormian bones-dextrocardia syndrome

ORPHA:2863Malf.

Short tarsus-absence of lower eyelashes syndrome

ORPHA:2832Malf.
Autosomal dominant

Short ulna-dysmorphism-hypotonia-intellectual disability syndrome

ORPHA:357175Malf.
Autosomal recessive

Shprintzen-Goldberg syndrome

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

Siegler-Brewer-Carey syndrome

ORPHA:3167Malf.
Autosomal recessive

Sillence syndrome

ORPHA:3168Malf.
Autosomal dominant

Simpson-Golabi-Behmel syndrome

ORPHA:373Malf.
X-linked recessive

Singleton-Merten dysplasia

ORPHA:85191Malf.
Autosomal dominant

Sirenomelia

ORPHA:3169Malf.
Not applicable

Skeletal dysplasia-epilepsy-short stature syndrome

ORPHA:1858Malf.

Smith-Lemli-Opitz syndrome

ORPHA:818Malf.
Autosomal recessive

Smith-Magenis syndrome

ORPHA:819Malf.
Autosomal dominant

Spastic paraparesis-deafness syndrome

ORPHA:2815Malf.

Spastic paraplegia-facial-cutaneous lesions syndrome

ORPHA:2819Malf.

Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome

ORPHA:521390Malf.
Autosomal dominant

Spigelian hernia-cryptorchidism syndrome

ORPHA:314432Malf.
Not applicable

Spina bifida-hypospadias syndrome

ORPHA:3176Malf.

Spinal arteriovenous metameric syndrome

ORPHA:53721Malf.
Not applicable

Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome

ORPHA:73245Malf.
Unknown

Spinocerebellar degeneration-corneal dystrophy syndrome

ORPHA:3177Malf.
Autosomal recessive

Splenic arteriovenous malformation

ORPHA:693863Malf.
Not applicable

Splenogonadal fusion-limb defects-micrognathia syndrome

ORPHA:2063Malf.