Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Growth delay (HP:0001510)

Parent Node:
Postnatal growth retardation (HP:0008897)

..Starting node
..Moderate postnatal growth retardation (HP:0008855)

Term ID:

8855

Name:

Moderate postnatal growth retardation

Synonym:

Moderate growth delay in children

Definition:

A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms.

Comments:

Reference:

HP:0008855

Genes and Diseases:

Child Nodes:

Sister Nodes:

Mild postnatal growth retardation (HP:0001530)

Severe postnatal growth retardation (HP:0008850)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008855	HP:0008855	Moderate postnatal growth retardation	0	SLC5A2 CL E G H	6524	11037	ORPHA:69076	Familial renal glucosuria	HP:0040283 - Occasional	41

Genes (1) :SLC5A2

Diseases (1) :ORPHA:69076

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