Human Phenotype Ontology 
Grandparent Node:
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Short stature (HP:0004322)help
Parent Node:
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Proportionate short stature (HP:0003508)help
..Starting node
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Moderately short stature (HP:0008848)help
Term ID: 8848
Name: Moderately short stature
Synonym: Moderate short stature; Short stature, moderate
Definition: A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex.
Comments:
Reference: HP:0008848
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandMild short stature (HP:0003502) help
..expandSevere short stature (HP:0003510) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008848HP:0008848Moderately short stature0HOXD13 CL E G H32395136OMIM:113300Brachydactyly, type E.25
HP:0008848HP:0008848Moderately short stature0RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia.90
HP:0008848HP:0008848Moderately short stature0SELENOI CL E G H8546529361ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunctionHP:0040280 - Obligate
HP:0008848HP:0008848Moderately short stature0SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4HP:0040282 - Frequent166
HP:0008848HP:0008848Moderately short stature0SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 3.24
HP:0008848HP:0008848Moderately short stature0SLC39A13 CL E G H9125220859ORPHA:157965SLC39A13-related spondylodysplastic Ehlers-Danlos syndromeHP:0040281 - Very frequent24


Genes (5) :HOXD13 RUNX2 SELENOI SLC26A2 SLC39A13

Diseases (6) :OMIM:113300 OMIM:119600 ORPHA:506353 ORPHA:93307 OMIM:612350 ORPHA:157965
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.