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 hemiagenesis (HP:0011780)

Term ID:

11780

Name:

Thyroid hemiagenesis

Synonym:

Definition:

Absence of a lobe of the thyroid gland related to a failure of its embryologic development.

Comments:

Reference:

HP:0011780

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ectopic thyroid (HP:0100028)

Thyroid agenesis (HP:0008191)

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:0011780	HP:0011780	Thyroid hemiagenesis	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040283 - Occasional	51

Genes (1) :NKX2-1

Diseases (1) :ORPHA:209905

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