Experimental Factor Ontology / 实验性因素本体

Last uploaded: September 7, 2023

Preferred Name	obsolete_Barber-Say syndrome
Synonyms	Hypertrichosis - atrophic skin - ectropion - macrostomia
Definitions	Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.
ID	http://www.orpha.net/ORDO/Orphanet_1231
Obsolete	true
database_cross_reference	OMIM:209885 MeSH:C537908 ICD10:Q87.0 UMLS:C1319466
definition	Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.
definition_citation	orphanet
deprecated	true
has_exact_synonym	Hypertrichosis - atrophic skin - ectropion - macrostomia
label	obsolete_Barber-Say syndrome
obsoleted_in_version	3.41.0
prefLabel	obsolete_Barber-Say syndrome
reason_for_obsolescence	Replaced with Mondo term.
term replaced by	http://purl.obolibrary.org/obo/MONDO_0008853
subClassOf	http://www.w3.org/2002/07/owl#Thing

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Delete	Mapping To	Ontology	Source
	http://www.orpha.net/ORDO/Orphanet_1231	Orphanet Rare Disease Ontology / Orphanet罕见病本体	SAME_URI