Global Code Book Ontology

Last uploaded: May 2, 2024

Preferred Name	hereditary neurological disease
Synonyms	neurogenetic disease
Definitions	A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles.
ID	http://purl.obolibrary.org/obo/MONDO_0100545
creator	https://orcid.org/0000-0001-5208-3432
hasExactSynonym	neurogenetic disease
IAO_0000115	A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles.
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/5952
id	MONDO:0100545
label	hereditary neurological disease
notation	MONDO:0100545
prefLabel	hereditary neurological disease
subClassOf	http://purl.obolibrary.org/obo/MONDO_0005071 http://purl.obolibrary.org/obo/MONDO_0003847

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0100545	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0100545	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0100545	OBA	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0100545	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0100545	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0100545	OBA	LOOM