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:
Goiter (HP:0000853)

..Starting node
..Congenital goiter (HP:0008251)

Term ID:

8251

Name:

Congenital goiter

Synonym:

Congenital goitre

Definition:

An enlargement of the thyroid gland with congenital onset.

Comments:

Reference:

HP:0008251

Genes and Diseases:

Child Nodes:

Sister Nodes:

Euthyroid goiter (HP:0009798)

Nodular goiter (HP:0005994)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008251	HP:0008251	Congenital goiter	0	CL E G H

Genes (0) :

Diseases (0) :

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