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¶

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 disease has basis in dysfunction of some {gene} and has modifier 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:0007818	Hyper-IgE recurrent infection syndrome 1	MONDO:0018037	hyper-IgE syndrome	http://identifiers.org/hgnc/11364	STAT3	HP:0000006	Autosomal dominant inheritance
MONDO:0100121	SCN4A-related myopathy, autosomal recessive	MONDO:0019952	congenital myopathy	http://identifiers.org/hgnc/10591	SCN4A	HP:0000007	Autosomal recessive inheritance
MONDO:0010338	X-linked distal spinal muscular atrophy type 3	MONDO:0001516	spinal muscular atrophy	http://identifiers.org/hgnc/869	ATP7A	HP:0001417	X-linked inheritance
MONDO:0020721	X-linked sideroblastic anemia 1	MONDO:0015194	sideroblastic anemia	http://identifiers.org/hgnc/397	ALAS2	HP:0001417	X-linked inheritance
MONDO:0007092	amelogenesis imperfecta type 1B	MONDO:0019507	amelogenesis imperfecta	http://identifiers.org/hgnc/3344	ENAM	HP:0000006	Autosomal dominant inheritance

See full table here