Human Phenotype Ontology

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)

Parent Node:
Thyroid dysgenesis (HP:0008188)

..Starting node
..Ectopic thyroid (HP:0100028)

Term ID:

100028

Name:

Ectopic thyroid

Synonym:

Aberrant thyroid; Aberrant thyroid gland; Abnormal thryoid location; Ectopic thyroid gland; Heteropic thyroid gland

Definition:

Mislocalised thyroid gland.

Comments:

Reference:

HP:0100028

Genes and Diseases:

Child Nodes:

........

Lingual thyroid (HP:0100029)

........

Accessory ectopic thyroid tissue (HP:0100030)

Sister Nodes:

Thyroid agenesis (HP:0008191)

Thyroid hemiagenesis (HP:0011780)

Thyroid hypoplasia (HP:0005990)

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:0100028	HP:0100028	Ectopic thyroid	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040282 - Frequent	141
HP:0100028	HP:0100028	Ectopic thyroid	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040283 - Occasional	144
HP:0100028	HP:0100028	Ectopic thyroid	0	NKX2-5 CL E G H	1482	2488	OMIM:225250	Hypothyroidism, congenital, nongoitrous, 5	.	90
HP:0100028	HP:0100028	Ectopic thyroid	0	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia	HP:0040281 - Very frequent	90
HP:0100028	HP:0100028	Ectopic thyroid	0	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2	.	63
HP:0100028	HP:0100028	Ectopic thyroid	0	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia	HP:0040281 - Very frequent	63
HP:0100028	HP:0100030	Accessory ectopic thyroid tissue	1	CL E G H
HP:0100028	HP:0100029	Lingual thyroid	1	CL E G H

Genes (4) :KAT6B LIFR NKX2-5 PAX8

Diseases (5) :ORPHA:3047 ORPHA:3206 OMIM:225250 ORPHA:95712 OMIM:218700

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