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 the thyroid gland (HP:0000820)

Parent Node:
Abnormal thyroid morphology (HP:0011772)

..Starting node
..Thyroid hyperplasia (HP:0008249)

Term ID:

8249

Name:

Thyroid hyperplasia

Synonym:

Large thyroid

Definition:

Hyperplasia of the thyroid gland.

Comments:

Reference:

HP:0008249

Genes and Diseases:

Child Nodes:

........

Thyroid follicular hyperplasia (HP:0008225)

........

Thyroid C cell hyperplasia (HP:0011781)

Sister Nodes:

Goiter (HP:0000853)

Neoplasm of the thyroid gland (HP:0100031)

Thyroglossal cyst (HP:0010518)

Thyroid dysgenesis (HP:0008188)

Thyroid lymphangiectasia (HP:0008229)

Thyroid nodule (HP:0025388)

Thyroiditis (HP:0100646)

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:0008249	HP:0008249	Thyroid hyperplasia	0	PRKAR1A CL E G H	5573	9388	OMIM:160980	Carney complex, type 1		134
HP:0008249	HP:0008249	Thyroid hyperplasia	0	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA		572
HP:0008249	HP:0008249	Thyroid hyperplasia	0	TSHR CL E G H	7253	12373	ORPHA:99819	Familial gestational hyperthyroidism	HP:0040281 - Very frequent	97
HP:0008249	HP:0008249	Thyroid hyperplasia	0	TSHR CL E G H	7253	12373	ORPHA:424	Familial hyperthyroidism due to mutations in TSH receptor	HP:0040281 - Very frequent	97
HP:0008249	HP:0008249	Thyroid hyperplasia	0	TSHR CL E G H	7253	12373	OMIM:609152	Hyperthyroidism, nonautoimmune	.	97
HP:0008249	HP:0008225	Thyroid follicular hyperplasia	1	PRKAR1A CL E G H	5573	9388	OMIM:160980	Carney complex, type 1	.	134
HP:0008249	HP:0011781	Thyroid C cell hyperplasia	1	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA		572

Genes (3) :PRKAR1A RET TSHR

Diseases (5) :OMIM:160980 OMIM:171400 ORPHA:99819 ORPHA:424 OMIM:609152

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