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 thyroid morphology (HP:0011772)

Parent Node:
Thyroid hyperplasia (HP:0008249)

..Starting node
..Thyroid C cell hyperplasia (HP:0011781)

Term ID:

11781

Name:

Thyroid C cell hyperplasia

Synonym:

Definition:

An abnormal growth of parafollicular (C-cells) cells.

Comments:

Reference:

HP:0011781

Genes and Diseases:

Child Nodes:

Sister Nodes:

Thyroid follicular hyperplasia (HP:0008225)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011781	HP:0011781	Thyroid C cell hyperplasia	0	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA	572

Genes (1) :RET

Diseases (1) :OMIM:171400

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