MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 3,968 заболеваний (Заболевание)Сбросить

Serine biosynthesis pathway deficiency, infantile/juvenile form

ORPHA:583595Заболевание

Serotonin syndrome

ORPHA:43116Заболевание
Not applicable

Serous carcinoma of the corpus uteri

ORPHA:213726Заболевание

Serous cystadenocarcinoma of pancreas

ORPHA:424073Заболевание
Not applicable

Serrated polyposis syndrome

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

Severe X-linked mitochondrial encephalomyopathy

ORPHA:238329Заболевание
X-linked recessive

Severe achondroplasia-developmental delay-acanthosis nigricans syndrome

ORPHA:85165Заболевание
Autosomal dominant, Not applicable

Severe acute respiratory syndrome

ORPHA:140896Заболевание
Not applicable

Severe autosomal recessive macrothrombocytopenia

ORPHA:438207Заболевание
Autosomal recessive

Severe combined immunodeficiency due to CORO1A deficiency

ORPHA:228003Заболевание
Autosomal recessive

Severe combined immunodeficiency due to CTPS1 deficiency

ORPHA:420573Заболевание
Autosomal recessive

Severe combined immunodeficiency due to DCLRE1C deficiency

ORPHA:275Заболевание
Autosomal recessive

Severe combined immunodeficiency due to DNA-PKcs deficiency

ORPHA:317425Заболевание
Autosomal recessive

Severe combined immunodeficiency due to FOXN1 deficiency

ORPHA:169095Заболевание
Autosomal recessive

Severe combined immunodeficiency due to LAT deficiency

ORPHA:504523Заболевание
Autosomal recessive

Severe combined immunodeficiency due to adenosine deaminase deficiency

ORPHA:277Заболевание
Autosomal recessive

Severe combined immunodeficiency due to complete RAG1/2 deficiency

ORPHA:331206Заболевание
Autosomal recessive

Severe congenital hypochromic anemia with ringed sideroblasts

ORPHA:300298Заболевание
Unknown

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

ORPHA:675775Заболевание
Autosomal recessive

Severe congenital nemaline myopathy

ORPHA:171430Заболевание
Autosomal recessive

Severe congenital neutropenia due to G6PC3 deficiency

ORPHA:331176Заболевание
Autosomal recessive

Severe congenital neutropenia due to JAGN1 deficiency

ORPHA:423384Заболевание
Autosomal recessive

Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency

ORPHA:675767Заболевание
Autosomal dominant

Severe dermatitis-multiple allergies-metabolic wasting syndrome

ORPHA:369992Заболевание
Autosomal recessive