Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	Seckel syndrome
Synonyms	microcephalic primordial dwarfism
Definitions	Xref MGI. OMIM mapping confirmed by DO. [SN]. A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability.
ID	http://purl.obolibrary.org/obo/DOID_0050569
comment	Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference	OMIM:PS210600 ORDO:808 GARD:8562 ICD10CM:Q87.1
definition	A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability.
has exact synonym	microcephalic primordial dwarfism Harper's syndrome bird-headed dwarfism Virchow-Seckel dwarfism
has material basis in	http://purl.obolibrary.org/obo/GENO_0000148
has_obo_namespace	disease_ontology
id	DOID:0050569
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	Seckel syndrome
notation	DOID:0050569
prefLabel	Seckel syndrome
subClassOf	http://purl.obolibrary.org/obo/DOID_225 http://purl.obolibrary.org/obo/DOID_0050737

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Delete	Mapping To	Ontology	Source
	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125488	National Cancer Institute Thesaurus	LOOM