Human Phenotype Ontology

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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:
Goiter (HP:0000853)

..Starting node
..Nodular goiter (HP:0005994)

Term ID:

5994

Name:

Nodular goiter

Synonym:

Nodular goitre

Definition:

Enlargement of the thyroid gland related to one or more nodules in the thyroid gland.

Comments:

Reference:

HP:0005994

Genes and Diseases:

Child Nodes:

........

Multinodular goiter (HP:0005987)

........

Uninodular goiter (HP:0011773)

Sister Nodes:

Congenital goiter (HP:0008251)

Euthyroid goiter (HP:0009798)

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:0005994	HP:0005994	Nodular goiter	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome		404
HP:0005994	HP:0005994	Nodular goiter	0	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter		670
HP:0005994	HP:0005994	Nodular goiter	0	DICER1 CL E G H	23405	17098	OMIM:180295	RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2		670
HP:0005994	HP:0005994	Nodular goiter	0	FOXE1 CL E G H	2304	3806	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040281 - Very frequent	9
HP:0005994	HP:0005994	Nodular goiter	0	HABP2 CL E G H	3026	4798	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040281 - Very frequent	58
HP:0005994	HP:0005994	Nodular goiter	0	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter
HP:0005994	HP:0005994	Nodular goiter	0	MINPP1 CL E G H	9562	7102	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040281 - Very frequent	3
HP:0005994	HP:0005994	Nodular goiter	0	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional	2
HP:0005994	HP:0005994	Nodular goiter	0	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional	64
HP:0005994	HP:0005994	Nodular goiter	0	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB	.	572
HP:0005994	HP:0005994	Nodular goiter	0	SASH1 CL E G H	23328	19182	OMIM:618373	Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma		1
HP:0005994	HP:0011773	Uninodular goiter	1	CL E G H
HP:0005994	HP:0005987	Multinodular goiter	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.	404
HP:0005994	HP:0005987	Multinodular goiter	1	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter	HP:0040280 - Obligate	670
HP:0005994	HP:0005987	Multinodular goiter	1	DICER1 CL E G H	23405	17098	OMIM:180295	RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2		670
HP:0005994	HP:0005987	Multinodular goiter	1	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter	HP:0040280 - Obligate
HP:0005994	HP:0005987	Multinodular goiter	1	SASH1 CL E G H	23328	19182	OMIM:618373	Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma	.	1

Genes (10) :ALMS1 DICER1 FOXE1 HABP2 KEAP1 MINPP1 MMP14 MMP2 RET SASH1

Diseases (7) :OMIM:203800 ORPHA:276399 OMIM:180295 ORPHA:319487 ORPHA:371428 OMIM:162300 OMIM:618373

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

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