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:
Goiter (HP:0000853)

Parent Node:
Nodular goiter (HP:0005994)

..Starting node
..Multinodular goiter (HP:0005987)

Term ID:

5987

Name:

Multinodular goiter

Synonym:

Multinodular goitre

Definition:

Enlargement of the thyroid gland related to multiple nodules in the thyroid gland.

Comments:

Reference:

HP:0005987

Genes and Diseases:

Child Nodes:

Sister Nodes:

Uninodular goiter (HP:0011773)

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:0005987	HP:0005987	Multinodular goiter	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.	404
HP:0005987	HP:0005987	Multinodular goiter	0	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter	HP:0040280 - Obligate	670
HP:0005987	HP:0005987	Multinodular goiter	0	DICER1 CL E G H	23405	17098	OMIM:180295	RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2		670
HP:0005987	HP:0005987	Multinodular goiter	0	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter	HP:0040280 - Obligate
HP:0005987	HP:0005987	Multinodular goiter	0	SASH1 CL E G H	23328	19182	OMIM:618373	Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma	.	1

Genes (4) :ALMS1 DICER1 KEAP1 SASH1

Diseases (4) :OMIM:203800 ORPHA:276399 OMIM:180295 OMIM:618373

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