disease_series_by_gene_and_inheritance¶
http://purl.obolibrary.org/obo/mondo/patterns/disease_series_by_gene.yaml
Description¶
This pattern is for diseases that are caused by a single mutation in a single gene, that have gene-based names, and are inherited by a specific mechanism, succh as autosomal dominant and autosomal recessive.
Examples: Growth hormone insensitivity syndrome with immune dysregulation, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive and Growth hormone insensitivity with immune dysregulation 2, autosomal dominant
Contributors¶
- https://orcid.org/0000-0002-6601-2165
- https://orcid.org/0000-0001-5208-3432
- https://orcid.org/0000-0002-7356-1779
Name¶
{disease} caused by mutation in {gene}, {mode_of_inheritance}
Annotations¶
-
exact_synonym: {gene} {disease}, {mode_of_inheritance}
-
exact_synonym: {gene} related {disease}, {mode_of_inheritance}
Definition¶
Any {disease} in which the cause of the disease is a mutation in the {gene} gene, and has {mode_of_inheritance}.
Equivalent to¶
{disease} and has material basis in germline mutation in some {gene} and has characteristic some {mode_of_inheritance}
Data preview¶
defined_class | defined_class_label | disease | disease_label | gene | gene_label | mode_of_inheritance | mode_of_inheritance_label |
---|---|---|---|---|---|---|---|
MONDO:0007092 | amelogenesis imperfecta type 1B | MONDO:0019507 | amelogenesis imperfecta | http://identifiers.org/hgnc/3344 | ENAM | HP:0000006 | Autosomal dominant inheritance |
MONDO:0014865 | autosomal recessive severe congenital neutropenia due to CSF3R deficiency | MONDO:0018542 | severe congenital neutropenia | http://identifiers.org/hgnc/2439 | CSF3R | HP:0000007 | Autosomal recessive inheritance |
MONDO:0018487 | autosomal recessive severe congenital neutropenia due to CXCR2 deficiency | MONDO:0018542 | severe congenital neutropenia | http://identifiers.org/hgnc/6027 | CXCR2 | HP:0000007 | Autosomal recessive inheritance |
MONDO:0012930 | autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | MONDO:0018542 | severe congenital neutropenia | http://identifiers.org/hgnc/24861 | G6PC3 | HP:0000007 | Autosomal recessive inheritance |
MONDO:0014456 | autosomal recessive severe congenital neutropenia due to JAGN1 deficiency | MONDO:0018542 | severe congenital neutropenia | http://identifiers.org/hgnc/26926 | JAGN1 | HP:0000007 | Autosomal recessive inheritance |
See full table here