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:
Abnormal circulating protein concentration (HP:0010876)

Parent Node:
Abnormal circulating beta globulin level (HP:0025465)

..Starting node
..Atransferrinemia (HP:0012239)

Term ID:

12239

Name:

Atransferrinemia

Synonym:

Definition:

Absence of transferrin, a protein that transports iron, in the blood.

Comments:

Reference:

HP:0012239

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal angiostatin level (HP:0031439)

Abnormal circulating properdin level (HP:0031300)

Abnormal sex hormone-binding globulin level (HP:0031438)

Abnormality of circulating beta-2-microglobulin level (HP:0025345)

Decreased level of plasminogen (HP:0040228)

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:0012239	HP:0012239	Atransferrinemia	0	TF CL E G H	7018	11740	OMIM:209300	ATRANSFERRINEMIA	.	45

Genes (1) :TF

Diseases (1) :OMIM:209300

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