Germline Variation

Preferred Label : Germline Variation;

NCIt synonyms : Hereditary Mutation; Germline Mutation Abnormality; Germline Variant; Germline Mutation;

NCIt related terms : Simple Germline Variation;

NCIt definition : Any mutation that appears in the gametes and which will therefore be transmitted to the progeny with some frequency.;

Alternative definition : NCI-GLOSS: A gene change in the body's reproductive cells (egg or sperm) that becomes incorporated into the DNA of every cell in the body of offspring; germline mutations are passed on from parents to offspring.; CDISC: Any inheritable variation in the DNA that is transmitted to the progeny with some frequency.;

Codes from synonyms : CDR0000046384; CDR0000046365;

Details

Origin ID

C17666;

UMLS CUI

C0206530;

Automatic exact mappings (from CISMeF team)
- Somatic mutation [HPO term]
Currated CISMeF NLP mapping
- Germ-Line mutation [MeSH concept]
- germ-line mutation [MeSH Descriptor]
Molecular abnormality of diseases
- Refractory Cytopenia of Childhood [NCIt concept]
Semantic type(s)
- Genetic Function [UMLS semantic type]
UMLS correspondences (same concept)
- Germ-Line mutation [MeSH concept]
- germ-line mutation [MeSH Descriptor]
concept_is_in_subset
- CDISC SDTM Genomic Inheritability Type Response Terminology [NCIt concept]
- CDISC SDTM Terminology [NCIt concept]
- Clinical Data Interchange Standards Consortium Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
is_molecular_abnormality_of_disease
- Acute Myeloid Leukemia with Germline CEBPA Mutation [NCIt concept]
- Autoimmune Lymphoproliferative Syndrome with Germline CASP10 Mutation [NCIt concept]
- Autoimmune Lymphoproliferative Syndrome with Germline CASP8 Mutation [NCIt concept]
- Autoimmune Lymphoproliferative Syndrome with Germline FADD Mutation [NCIt concept]
- Autoimmune Lymphoproliferative Syndrome with Germline FASLG Mutation [NCIt concept]
- Autoimmune Lymphoproliferative Syndrome with Other Specified FAS Pathway Germline Mutation [NCIt concept]
- B Acute Lymphoblastic Leukemia with Germline IKZF1 Mutation [NCIt concept]
- B Acute Lymphoblastic Leukemia with Germline PAX5 Mutation [NCIt concept]
- B Acute Lymphoblastic Leukemia with Germline Predisposition [NCIt concept]
- Hematologic Neoplasm Associated with Down Syndrome [NCIt concept]
- Hematologic Neoplasm with Germline ANKRD26 Mutation [NCIt concept]
- Hematologic Neoplasm with Germline DDX41 Mutation [NCIt concept]
- Hematologic Neoplasm with Germline ETV6 Mutation [NCIt concept]
- Hematologic Neoplasm with Germline GATA2 Mutation [NCIt concept]
- Hematologic Neoplasm with Germline Predisposition [NCIt concept]
- Hematologic Neoplasm with Germline Predisposition Associated with Inherited Bone Marrow Failure Syndrome [NCIt concept]
- Hematologic Neoplasm with Germline Predisposition Associated with Telomerase Biology Disorder [NCIt concept]
- Hematologic Neoplasm with Germline Predisposition Associated with a Constitutional Disorder Affecting Multiple Organ Systems [NCIt concept]
- Hematologic Neoplasm with Germline Predisposition Associated with a Constitutional Platelet Disorder [NCIt concept]
- Hematologic Neoplasm with Germline Predisposition without a Constitutional Disorder Affecting Multiple Organ Systems [NCIt concept]
- Hematologic Neoplasm with Germline RUNX1 Mutation [NCIt concept]
- Hematologic Neoplasm with Germline SAMD9 Mutation [NCIt concept]
- Hematologic Neoplasm with Germline SAMD9L Mutation [NCIt concept]
- Juvenile Myelomonocytic Leukemia Associated with Neurofibromatosis [NCIt concept]
- Juvenile Myelomonocytic Leukemia Associated with Noonan Syndrome-Like Disorder [NCIt concept]
- Myeloid Leukemia Associated with Down Syndrome [NCIt concept]
- Noonan Syndrome-Associated Myeloproliferative Disorder [NCIt concept]
- SAMD9-Associated Hereditary Myelodysplastic Syndrome [NCIt concept]
- SAMD9L-Associated Hereditary Myelodysplastic Syndrome [NCIt concept]
- Transient Abnormal Myelopoiesis Associated with Down Syndrome [NCIt concept]

Keyword's position in hierarchy(ies) :

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