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
..Thyroglossal cyst (HP:0010518)

Term ID:

10518

Name:

Thyroglossal cyst

Synonym:

Thyroglossal duct cyst

Definition:

An abnormality of the thyroid gland owing to the presence of a fibrous cyst resulting from the persistence of the thyroglossal duct.

Comments:

Reference:

HP:0010518

Genes and Diseases:

Child Nodes:

Sister Nodes:

Goiter (HP:0000853)

Neoplasm of the thyroid gland (HP:0100031)

Thyroid dysgenesis (HP:0008188)

Thyroid hyperplasia (HP:0008249)

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:0010518	HP:0010518	Thyroglossal cyst	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040284 - Very rare	57

Genes (1) :MID1

Diseases (1) :ORPHA:2745

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