Experimental Factor Ontology / 实验性因素本体

Last uploaded: September 7, 2023

Preferred Name	obsolete_Hoyeraal-Hreidarsson syndrome
Synonyms	Progressive pancytopenia - immunodeficiency - cerebellar hypoplasia
Definitions	Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.
ID	http://www.orpha.net/ORDO/Orphanet_3322
Obsolete	true
database_cross_reference	MeSH:C536068 OMIM:305000 UMLS:C1846142 ICD10:D61.0
definition	Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.
definition_citation	orphanet
deprecated	true
has_exact_synonym	Progressive pancytopenia - immunodeficiency - cerebellar hypoplasia
label	obsolete_Hoyeraal-Hreidarsson syndrome
obsoleted_in_version	3.41.0
prefLabel	obsolete_Hoyeraal-Hreidarsson syndrome
reason_for_obsolescence	Replaced with Mondo term.
term replaced by	http://purl.obolibrary.org/obo/MONDO_0018045
subClassOf	http://www.w3.org/2002/07/owl#Thing

Delete	Subject	Author	Type	Created
No notes to display

Delete	Mapping To	Ontology	Source
	http://www.orpha.net/ORDO/Orphanet_3322	Orphanet Rare Disease Ontology / Orphanet罕见病本体	SAME_URI