MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
3,968 diseases matched (Disease) Reset

Serine biosynthesis pathway deficiency, infantile/juvenile form

ORPHA:583595Disease

Serotonin syndrome

ORPHA:43116Disease
Not applicable

Serous carcinoma of the corpus uteri

ORPHA:213726Disease

Serous cystadenocarcinoma of pancreas

ORPHA:424073Disease
Not applicable

Serrated polyposis syndrome

ORPHA:157798Disease
Autosomal dominant, Multigenic/multifactorial, Unknown

Severe X-linked mitochondrial encephalomyopathy

ORPHA:238329Disease
X-linked recessive

Severe achondroplasia-developmental delay-acanthosis nigricans syndrome

ORPHA:85165Disease
Autosomal dominant, Not applicable

Severe acute respiratory syndrome

ORPHA:140896Disease
Not applicable

Severe autosomal recessive macrothrombocytopenia

ORPHA:438207Disease
Autosomal recessive

Severe combined immunodeficiency due to CORO1A deficiency

ORPHA:228003Disease
Autosomal recessive

Severe combined immunodeficiency due to CTPS1 deficiency

ORPHA:420573Disease
Autosomal recessive

Severe combined immunodeficiency due to DCLRE1C deficiency

ORPHA:275Disease
Autosomal recessive

Severe combined immunodeficiency due to DNA-PKcs deficiency

ORPHA:317425Disease
Autosomal recessive

Severe combined immunodeficiency due to FOXN1 deficiency

ORPHA:169095Disease
Autosomal recessive

Severe combined immunodeficiency due to LAT deficiency

ORPHA:504523Disease
Autosomal recessive

Severe combined immunodeficiency due to adenosine deaminase deficiency

ORPHA:277Disease
Autosomal recessive

Severe combined immunodeficiency due to complete RAG1/2 deficiency

ORPHA:331206Disease
Autosomal recessive

Severe congenital hypochromic anemia with ringed sideroblasts

ORPHA:300298Disease
Unknown

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

ORPHA:675775Disease
Autosomal recessive

Severe congenital nemaline myopathy

ORPHA:171430Disease
Autosomal recessive

Severe congenital neutropenia due to G6PC3 deficiency

ORPHA:331176Disease
Autosomal recessive

Severe congenital neutropenia due to JAGN1 deficiency

ORPHA:423384Disease
Autosomal recessive

Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency

ORPHA:675767Disease
Autosomal dominant

Severe dermatitis-multiple allergies-metabolic wasting syndrome

ORPHA:369992Disease
Autosomal recessive