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

..Starting node
..Abnormal carbon dioxide level in cord blood (HP:0500258)

Term ID:

500258

Name:

Abnormal carbon dioxide level in cord blood

Synonym:

Abnormal CO2 level in cord blood; Abnormal umbilical cord blood levels of carbon dioxide

Definition:

Abnormal amount of carbon dioxide in umbilical cord blood

Comments:

Reference:

HP:0500258

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0500258	HP:0500258	Abnormal carbon dioxide level in cord blood	0	CL E G H
HP:0500258	HP:0410215	Hypocapnia in cord blood	1	CL E G H
HP:0500258	HP:0410214	Hypercapnia in cord blood	1	CL E G H

Genes (0) :

Diseases (0) :

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