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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

Name

{disease} caused by mutation in {gene}, {mode_of_inheritance}

Annotations

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