Digital medicine Outcomes Value Set (DOVeS) Ontology - dyskeratosis congenita, X-linked - Classes | NCBO BioPortal

Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023

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Preferred Name	dyskeratosis congenita, X-linked
Synonyms	dyskeratosis congenita X-linked Growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia cerebellar hypoplasia with pancytopenia Zinsser-Cole-Engman syndrome X-linked dyskeratosis congenita dyskeratosis congenita, X-linked dyskeratosis congenita, X-linked, X-linked recessive Hoyeraal Hreidarsson syndrome DKCX
Definitions	X-linked form of dyskeratosis congenita.
ID	http://purl.obolibrary.org/obo/MONDO_0010584
altLabel	dyskeratosis congenita X-linked Growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia cerebellar hypoplasia with pancytopenia Zinsser-Cole-Engman syndrome X-linked dyskeratosis congenita dyskeratosis congenita, X-linked dyskeratosis congenita, X-linked, X-linked recessive Hoyeraal Hreidarsson syndrome DKCX
definition	X-linked form of dyskeratosis congenita.
has_exact_synonym	Zinsser-Cole-Engman syndrome X-linked dyskeratosis congenita dyskeratosis congenita, X-linked dyskeratosis congenita, X-linked, X-linked recessive Hoyeraal Hreidarsson syndrome DKCX
has_related_synonym	dyskeratosis congenita X-linked Growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia cerebellar hypoplasia with pancytopenia
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4521
label	dyskeratosis congenita, X-linked
prefixIRI	MONDO:0010584
prefLabel	dyskeratosis congenita, X-linked
textual definition	X-linked form of dyskeratosis congenita.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0000425 http://purl.obolibrary.org/obo/MONDO_0100152

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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/MONDO_0010584	EFO	SAME_URI
	http://purl.obolibrary.org/obo/MONDO_0010584	MONDO	SAME_URI
	http://identifiers.org/omim/305000	REXO	LOOM
	http://identifiers.org/omim/305000	GEXO	LOOM
	http://identifiers.org/omim/305000	RETO	LOOM
	http://purl.obolibrary.org/obo/MONDO_0010584	EFO	LOOM
	http://purl.obolibrary.org/obo/MONDO_0010584	MONDO	LOOM
	http://purl.bioontology.org/ontology/OMIM/305000	OMIM	LOOM
	http://purl.obolibrary.org/obo/DERMO_0000604	DERMO	LOOM