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Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер
Табылды 3,968 заболеваний (Ауру) Қалпына келтіру

Serine biosynthesis pathway deficiency, infantile/juvenile form

ORPHA:583595Ауру

Serotonin syndrome

ORPHA:43116Ауру
Not applicable

Serous carcinoma of the corpus uteri

ORPHA:213726Ауру

Serous cystadenocarcinoma of pancreas

ORPHA:424073Ауру
Not applicable

Serrated polyposis syndrome

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

Severe X-linked mitochondrial encephalomyopathy

ORPHA:238329Ауру
X-linked recessive

Severe achondroplasia-developmental delay-acanthosis nigricans syndrome

ORPHA:85165Ауру
Autosomal dominant, Not applicable

Severe acute respiratory syndrome

ORPHA:140896Ауру
Not applicable

Severe autosomal recessive macrothrombocytopenia

ORPHA:438207Ауру
Autosomal recessive

Severe combined immunodeficiency due to CORO1A deficiency

ORPHA:228003Ауру
Autosomal recessive

Severe combined immunodeficiency due to CTPS1 deficiency

ORPHA:420573Ауру
Autosomal recessive

Severe combined immunodeficiency due to DCLRE1C deficiency

ORPHA:275Ауру
Autosomal recessive

Severe combined immunodeficiency due to DNA-PKcs deficiency

ORPHA:317425Ауру
Autosomal recessive

Severe combined immunodeficiency due to FOXN1 deficiency

ORPHA:169095Ауру
Autosomal recessive

Severe combined immunodeficiency due to LAT deficiency

ORPHA:504523Ауру
Autosomal recessive

Severe combined immunodeficiency due to adenosine deaminase deficiency

ORPHA:277Ауру
Autosomal recessive

Severe combined immunodeficiency due to complete RAG1/2 deficiency

ORPHA:331206Ауру
Autosomal recessive

Severe congenital hypochromic anemia with ringed sideroblasts

ORPHA:300298Ауру
Unknown

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

ORPHA:675775Ауру
Autosomal recessive

Severe congenital nemaline myopathy

ORPHA:171430Ауру
Autosomal recessive

Severe congenital neutropenia due to G6PC3 deficiency

ORPHA:331176Ауру
Autosomal recessive

Severe congenital neutropenia due to JAGN1 deficiency

ORPHA:423384Ауру
Autosomal recessive

Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency

ORPHA:675767Ауру
Autosomal dominant

Severe dermatitis-multiple allergies-metabolic wasting syndrome

ORPHA:369992Ауру
Autosomal recessive