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 hormone concentration (HP:0003117)

Grandparent Node:
Abnormality of thyroid physiology (HP:0002926)

Parent Node:
Abnormal circulating thyroid hormone concentration (HP:0031508)

..Starting node
..Abnormal T3/T4 ratio (HP:0012558)

Term ID:

12558

Name:

Abnormal T3/T4 ratio

Synonym:

Definition:

A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal.

Comments:

Reference:

HP:0012558

Genes and Diseases:

Child Nodes:

........

Increased T3/T4 ratio (HP:0012559)

........

Decreased T3/T4 ratio (HP:0012560)

Sister Nodes:

Abnormal circulating T4 concentration (HP:0031505)

Increased circulating free T3 (HP:0011788)

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:0012558	HP:0012558	Abnormal T3/T4 ratio	0	TG CL E G H	7038	11764	OMIM:274700	Thyroid hormonogenesis, genetic defect in, 3		155
HP:0012558	HP:0012558	Abnormal T3/T4 ratio	0	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6		9
HP:0012558	HP:0012560	Decreased T3/T4 ratio	1	CL E G H
HP:0012558	HP:0012559	Increased T3/T4 ratio	1	TG CL E G H	7038	11764	OMIM:274700	Thyroid hormonogenesis, genetic defect in, 3	.	155
HP:0012558	HP:0012559	Increased T3/T4 ratio	1	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6		9

Genes (2) :TG THRA

Diseases (2) :OMIM:274700 OMIM:614450

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