Human Phenotype Ontology 
Grandparent Node:
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Growth abnormality (HP:0001507)help
Parent Node:
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Growth delay (HP:0001510)help
..Starting node
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Absent pubertal growth spurt (HP:0031087)help
Term ID: 31087
Name: Absent pubertal growth spurt
Synonym: Absent adolescent growth spurt
Definition: The abrupt and transient increase in the annual growth rate normally observed in adolescent individuals does not occur.
Comments:
Reference: HP:0031087
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDelayed puberty (HP:0000823) help
..expandIntrauterine growth retardation (HP:0001511) help
..expandPostnatal growth retardation (HP:0008897) help
..expandShort stature (HP:0004322) 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:0031087HP:0031087Absent pubertal growth spurt0HACE1 CL E G H5753121033ORPHA:464282Spastic paraplegia-severe developmental delay-epilepsy syndromeHP:0040282 - Frequent10
HP:0031087HP:0031087Absent pubertal growth spurt0PCNA CL E G H51118729ORPHA:438134PCNA-related progressive neurodegenerative photosensitivity syndromeHP:0040282 - Frequent1
HP:0031087HP:0031087Absent pubertal growth spurt0RMRP CL E G H602310031OMIM:250250Cartilage-Hair hypoplasia.37


Genes (3) :HACE1 PCNA RMRP

Diseases (3) :ORPHA:464282 ORPHA:438134 OMIM:250250
 

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