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
..Primary hypothyroidism (HP:0000832)

Term ID:

832

Name:

Primary hypothyroidism

Synonym:

Definition:

A type of hypothyroidism that results from a defect in the thyroid gland.

Comments:

Reference:

HP:0000832

Genes and Diseases:

Child Nodes:

Sister Nodes:

Central hypothyroidism (HP:0011787)

Compensated hypothyroidism (HP:0008223)

Congenital hypothyroidism (HP:0000851)

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:0000832	HP:0000832	Primary hypothyroidism	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0000832	HP:0000832	Primary hypothyroidism	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0000832	HP:0000832	Primary hypothyroidism	0	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG	HP:0040284 - Very rare	62
HP:0000832	HP:0000832	Primary hypothyroidism	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent	89
HP:0000832	HP:0000832	Primary hypothyroidism	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent

Genes (5) :ALMS1 CTNS DDOST STAT1 TOM1

Diseases (4) :ORPHA:64 OMIM:219800 ORPHA:300536 ORPHA:391487

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