Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skeletal maturation (HP:0000927)help
Parent Node:
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Delayed skeletal maturation (HP:0002750)help
..Starting node
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Marked delay in bone age (HP:0003799)help
Term ID: 3799
Name: Marked delay in bone age
Synonym: Marked delay in bone age; Marked retardation in skeletal maturation; Markedly retarded bone age
Definition:
Comments:
Reference: HP:0003799
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDysharmonic delayed bone age (HP:0005832) 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:0003799HP:0003799Marked delay in bone age0ESR1 CL E G H20993467ORPHA:785Estrogen resistance syndromeHP:0040281 - Very frequent13
HP:0003799HP:0003799Marked delay in bone age0LHX4 CL E G H8988421734OMIM:262700Pituitary hormone deficiency, combined, 4.43


Genes (2) :ESR1 LHX4

Diseases (2) :ORPHA:785 OMIM:262700
 

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