MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
3,968 Erkrankungen gefunden (Kr.) Zurücksetzen

Serine biosynthesis pathway deficiency, infantile/juvenile form

ORPHA:583595Kr.

Serotonin syndrome

ORPHA:43116Kr.
Not applicable

Serous carcinoma of the corpus uteri

ORPHA:213726Kr.

Serous cystadenocarcinoma of pancreas

ORPHA:424073Kr.
Not applicable

Serrated polyposis syndrome

ORPHA:157798Kr.
Autosomal dominant, Multigenic/multifactorial, Unknown

Severe X-linked mitochondrial encephalomyopathy

ORPHA:238329Kr.
X-linked recessive

Severe achondroplasia-developmental delay-acanthosis nigricans syndrome

ORPHA:85165Kr.
Autosomal dominant, Not applicable

Severe acute respiratory syndrome

ORPHA:140896Kr.
Not applicable

Severe autosomal recessive macrothrombocytopenia

ORPHA:438207Kr.
Autosomal recessive

Severe combined immunodeficiency due to CORO1A deficiency

ORPHA:228003Kr.
Autosomal recessive

Severe combined immunodeficiency due to CTPS1 deficiency

ORPHA:420573Kr.
Autosomal recessive

Severe combined immunodeficiency due to DCLRE1C deficiency

ORPHA:275Kr.
Autosomal recessive

Severe combined immunodeficiency due to DNA-PKcs deficiency

ORPHA:317425Kr.
Autosomal recessive

Severe combined immunodeficiency due to FOXN1 deficiency

ORPHA:169095Kr.
Autosomal recessive

Severe combined immunodeficiency due to LAT deficiency

ORPHA:504523Kr.
Autosomal recessive

Severe combined immunodeficiency due to adenosine deaminase deficiency

ORPHA:277Kr.
Autosomal recessive

Severe combined immunodeficiency due to complete RAG1/2 deficiency

ORPHA:331206Kr.
Autosomal recessive

Severe congenital hypochromic anemia with ringed sideroblasts

ORPHA:300298Kr.
Unknown

Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome

ORPHA:675775Kr.
Autosomal recessive

Severe congenital nemaline myopathy

ORPHA:171430Kr.
Autosomal recessive

Severe congenital neutropenia due to G6PC3 deficiency

ORPHA:331176Kr.
Autosomal recessive

Severe congenital neutropenia due to JAGN1 deficiency

ORPHA:423384Kr.
Autosomal recessive

Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency

ORPHA:675767Kr.
Autosomal dominant

Severe dermatitis-multiple allergies-metabolic wasting syndrome

ORPHA:369992Kr.
Autosomal recessive