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 circulating transferrin concentration (HP:0032385)

Term ID:

32385

Name:

Abnormal circulating transferrin concentration

Synonym:

Abnormal circulating transferrin level

Definition:

Any deviation from the normal concentration of transferrin in the blood circulation.

Comments:

Reference:

HP:0032385

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0032385	HP:0032385	Abnormal circulating transferrin concentration	0	ALB CL E G H	213	399	OMIM:616000	Analbuminemia		104
HP:0032385	HP:0032385	Abnormal circulating transferrin concentration	0	TF CL E G H	7018	11740	OMIM:209300	ATRANSFERRINEMIA		45
HP:0032385	HP:0032387	Reduced circulating transferrin concentration	1	CL E G H
HP:0032385	HP:0032386	Elevated circulating transferrin concentration	1	ALB CL E G H	213	399	OMIM:616000	Analbuminemia		104
HP:0032385	HP:0012239	Atransferrinemia	1	TF CL E G H	7018	11740	OMIM:209300	ATRANSFERRINEMIA	.	45

Genes (2) :ALB TF

Diseases (2) :OMIM:616000 OMIM:209300

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