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 dysgenesis (HP:0008188)

..Starting node
..Thyroid agenesis (HP:0008191)

Term ID:

8191

Name:

Thyroid agenesis

Synonym:

Athyroidal hypothyroidism

Definition:

The congenital absence of the thyroid gland.

Comments:

Reference:

HP:0008191

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ectopic thyroid (HP:0100028)

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:0008191	HP:0008191	Thyroid agenesis	0	FOXE1 CL E G H	2304	3806	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent	9
HP:0008191	HP:0008191	Thyroid agenesis	0	FOXE1 CL E G H	2304	3806	ORPHA:1226	Bamforth-Lazarus syndrome	HP:0040281 - Very frequent	9
HP:0008191	HP:0008191	Thyroid agenesis	0	FOXE1 CL E G H	2304	3806	OMIM:241850	Hypothyroidism, athyroidal, with spiky hair and cleft palate	.	9
HP:0008191	HP:0008191	Thyroid agenesis	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040282 - Frequent	141
HP:0008191	HP:0008191	Thyroid agenesis	0	NKX2-1 CL E G H	7080	11825	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent	51
HP:0008191	HP:0008191	Thyroid agenesis	0	NKX2-5 CL E G H	1482	2488	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent	90
HP:0008191	HP:0008191	Thyroid agenesis	0	PAX8 CL E G H	7849	8622	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent	63
HP:0008191	HP:0008191	Thyroid agenesis	0	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2	.	63
HP:0008191	HP:0008191	Thyroid agenesis	0	SLC26A4 CL E G H	5172	8818	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent	274
HP:0008191	HP:0008191	Thyroid agenesis	0	TSHR CL E G H	7253	12373	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent	97

Genes (7) :FOXE1 KAT6B NKX2-1 NKX2-5 PAX8 SLC26A4 TSHR

Diseases (5) :ORPHA:95713 ORPHA:1226 OMIM:241850 ORPHA:3047 OMIM:218700

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