Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 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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http://purl.obolibrary.org/obo/DOID_0050569 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_0050569 BioAssay Ontology / 生物活性分析本体 SAME_URI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125488 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://www.orpha.net/ORDO/Orphanet_808 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0019342 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0019342 Experimental Factor Ontology / 实验性因素本体 LOOM