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
..Decreased circulating free T4 concentration (HP:0033078)

Term ID:

33078

Name:

Decreased circulating free T4 concentration

Synonym:

Decreased circulating free T4 level

Definition:

A reduced concentration of free thyroxine (fT4) in the blood circulation.

Comments:

Reference:

HP:0033078

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0033078	HP:0033078	Decreased circulating free T4 concentration	0	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0033078	HP:0033078	Decreased circulating free T4 concentration	0	IRS4 CL E G H	8471	6128	OMIM:301035	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9; CHNG9
HP:0033078	HP:0033078	Decreased circulating free T4 concentration	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH	5
HP:0033078	HP:0033078	Decreased circulating free T4 concentration	0	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1	36
HP:0033078	HP:0033078	Decreased circulating free T4 concentration	0	TBL1X CL E G H	6907	11585	OMIM:301033	Hypothyroidism, congenital, nongoitrous, 8	1

Genes (5) :CPE IRS4 MADD POU1F1 TBL1X

Diseases (5) :OMIM:619326 OMIM:301035 OMIM:619004 OMIM:613038 OMIM:301033

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