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GENE - TERM ANNOTATION REPORT

RGD ID: 1318916
Species: Homo sapiens
RGD Object: Gene
Symbol: DHX30
Name: DExH-box helicase 30
Acc ID: HP:0004322
Term: Short stature
Definition: A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to 'short stature' as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Definition Source(s): https://orcid.org/0000-0002-0736-9199
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
DHX30 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Short stature

PMID:25741868 PMID:28327206 PMID:29100085
DHX30 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Stature below 3rd percentile

PMID:29100085
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