Human Phenotype Ontology 
Grandparent Node:
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Low APGAR score (HP:0030917)help
Parent Node:
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Low 5-minute APGAR score (HP:0030919)help
..Starting node
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5-minute APGAR score of 1 (HP:0030921)help
Term ID: 30921
Name: 5-minute APGAR score of 1
Synonym:
Definition:
Comments:
Reference: HP:0030921
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expand5-minute APGAR score of 0 (HP:0030920) help
..expand5-minute APGAR score of 2 (HP:0030922) help
..expand5-minute APGAR score of 3 (HP:0030923) help
..expand5-minute APGAR score of 4 (HP:0030924) help
..expand5-minute APGAR score of 5 (HP:0030925) help
..expand5-minute APGAR score of 6 (HP:0030926) 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:0030921HP:00309215-minute APGAR score of 10FGFR3 CL E G H22613690OMIM:187600Thanatophoric dysplasia, type I145
HP:0030921HP:00309215-minute APGAR score of 10PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndromeHP:0040283 - Occasional49


Genes (2) :FGFR3 PRPS1

Diseases (2) :OMIM:187600 ORPHA:423479
 

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