Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	combined saposin deficiency
Synonyms	PSAPD
Definitions	A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or coumpound heterozygous mutation in PSAP on 10q22.1.
ID	http://purl.obolibrary.org/obo/DOID_0111330
database_cross_reference	OMIM:611721 ORDO:139406 MESH:C567125
definition	A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or coumpound heterozygous mutation in PSAP on 10q22.1.
has exact synonym	PSAPD encephalopathy due to prosaposin deficiency combined SAP deficiency
has symptom	http://purl.obolibrary.org/obo/SYMP_0000047
has_obo_namespace	disease_ontology
id	DOID:0111330
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	combined saposin deficiency
notation	DOID:0111330
prefLabel	combined saposin deficiency
subClassOf	http://purl.obolibrary.org/obo/DOID_1927

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C567125	Medical Subject Headings	LOOM
	http://purl.bioontology.org/ontology/OMIM/611721	Online Mendelian Inheritance in Man	LOOM