Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	Stormorken syndrome
Synonyms	thrombocytopathy, asplenia and miosis
Definitions	A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It has_material_basis_in heterozygous mutation in the STM1 gene on chromosome 11p15. It has an autosomal dominant inheritance pattern.
ID	http://purl.obolibrary.org/obo/DOID_0060354
created_by	elvira
creation_date	2015-07-16T16:30:32Z
database_cross_reference	OMIM:185070 ORDO:3204 SNOMEDCT_US_2022_09_01:711407000 MESH:C566108 UMLS_CUI:C1861451
definition	A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It has_material_basis_in heterozygous mutation in the STM1 gene on chromosome 11p15. It has an autosomal dominant inheritance pattern.
has exact synonym	thrombocytopathy, asplenia and miosis
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace	disease_ontology
id	DOID:0060354
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	Stormorken syndrome
notation	DOID:0060354
prefLabel	Stormorken syndrome
subClassOf	http://purl.obolibrary.org/obo/DOID_2218 http://purl.obolibrary.org/obo/DOID_0050736

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/185070	Online Mendelian Inheritance in Man	LOOM
	http://purl.bioontology.org/ontology/MESH/C566108	Medical Subject Headings	LOOM