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:
Abnormality of thyroid physiology (HP:0002926)

Parent Node:
Hypothyroidism (HP:0000821)

..Starting node
..Compensated hypothyroidism (HP:0008223)

Term ID:

8223

Name:

Compensated hypothyroidism

Synonym:

Mild hypothyroidism; Subclinical hypothyroidism

Definition:

Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4).

Comments:

Reference:

HP:0008223

Genes and Diseases:

Child Nodes:

Sister Nodes:

Central hypothyroidism (HP:0011787)

Congenital hypothyroidism (HP:0000851)

Primary hypothyroidism (HP:0000832)

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:0008223	HP:0008223	Compensated hypothyroidism	0	FOXI1 CL E G H	2299	3815	OMIM:274600	Pendred syndrome	.	33
HP:0008223	HP:0008223	Compensated hypothyroidism	0	KCNJ10 CL E G H	3766	6256	OMIM:274600	Pendred syndrome	.	121
HP:0008223	HP:0008223	Compensated hypothyroidism	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040283 - Occasional	51
HP:0008223	HP:0008223	Compensated hypothyroidism	0	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress	.	51
HP:0008223	HP:0008223	Compensated hypothyroidism	0	SLC26A4 CL E G H	5172	8818	OMIM:274600	Pendred syndrome	.	274
HP:0008223	HP:0008223	Compensated hypothyroidism	0	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040282 - Frequent	12
HP:0008223	HP:0008223	Compensated hypothyroidism	0	TG CL E G H	7038	11764	OMIM:274700	Thyroid hormonogenesis, genetic defect in, 3	.	155
HP:0008223	HP:0008223	Compensated hypothyroidism	0	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive		161
HP:0008223	HP:0008223	Compensated hypothyroidism	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040282 - Frequent	56
HP:0008223	HP:0008223	Compensated hypothyroidism	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040283 - Occasional	97

Genes (9) :FOXI1 KCNJ10 NKX2-1 SLC26A4 TANGO2 TG THRB TREX1 TSHR

Diseases (8) :OMIM:274600 ORPHA:209905 OMIM:610978 ORPHA:480864 OMIM:274700 OMIM:274300 ORPHA:247691 ORPHA:90673

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

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