Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 thyroid morphology (HP:0011772)

Grandparent Node:
Increased inflammatory response (HP:0012649)

Parent Node:
Autoimmunity (HP:0002960)

Parent Node:
Thyroiditis (HP:0100646)

..Starting node
..Hashimoto thyroiditis (HP:0000872)

Term ID:

872

Name:

Hashimoto thyroiditis

Synonym:

Chronic lymphocytic thyroiditis; Hashimoto's thyroiditis

Definition:

A chronic, autoimmune type of thyroiditis associated with hypothyroidism.

Comments:

Reference:

HP:0000872

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0000872	HP:0000872	Hashimoto thyroiditis	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0000872	HP:0000872	Hashimoto thyroiditis	0	C1S CL E G H	716	1247	OMIM:613783	Complement component c1s deficiency	.	7
HP:0000872	HP:0000872	Hashimoto thyroiditis	0	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV		102
HP:0000872	HP:0000872	Hashimoto thyroiditis	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	27
HP:0000872	HP:0000872	Hashimoto thyroiditis	0	CTLA4 CL E G H	1493	2505	OMIM:140300	Hashimoto thyroiditis	.	10
HP:0000872	HP:0000872	Hashimoto thyroiditis	0	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency	HP:0040284 - Very rare	94
HP:0000872	HP:0000872	Hashimoto thyroiditis	0	FOXD3 CL E G H	27022	3804	OMIM:607836	Autoimmune disease, susceptibility to, 1	.	1
HP:0000872	HP:0000872	Hashimoto thyroiditis	0	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0000872	HP:0000872	Hashimoto thyroiditis	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0000872	HP:0000872	Hashimoto thyroiditis	0	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040284 - Very rare	11
HP:0000872	HP:0000872	Hashimoto thyroiditis	0	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3		21
HP:0000872	HP:0000872	Hashimoto thyroiditis	0	POLG CL E G H	5428	9179	ORPHA:94125	Recessive mitochondrial ataxia syndrome	HP:0040282 - Frequent	464
HP:0000872	HP:0000872	Hashimoto thyroiditis	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional	948
HP:0000872	HP:0000872	Hashimoto thyroiditis	0	SEC23B CL E G H	10483	10702	OMIM:616858	Cowden syndrome 7	.	60
HP:0000872	HP:0000872	Hashimoto thyroiditis	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	145
HP:0000872	HP:0000872	Hashimoto thyroiditis	0	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0000872	HP:0000872	Hashimoto thyroiditis	0	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040284 - Very rare	26

Genes (17) :ADA2 C1S CDKN1B CLCNKB CTLA4 DCLRE1C FOXD3 IL18BP ITCH PI4KA PLCG2 POLG PTEN SEC23B SLC12A3 TBX2 TTC7A

Diseases (15) :OMIM:615688 OMIM:613783 OMIM:610755 ORPHA:358 OMIM:140300 ORPHA:275 OMIM:607836 OMIM:618549 OMIM:613385 ORPHA:436252 OMIM:614468 ORPHA:94125 ORPHA:109 OMIM:616858 OMIM:618223

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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