Experimental Factor Ontology

Last uploaded: November 18, 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
definition	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.
has_exact_synonym	neurogenetic disease
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/5952
id	MONDO:0100545
label	hereditary neurological disease
notation	MONDO:0100545
preferred label	hereditary neurological disease
prefLabel	hereditary neurological disease
subClassOf	http://www.ebi.ac.uk/efo/EFO_0000508 http://www.ebi.ac.uk/efo/EFO_0000618

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