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:
Neoplasm of the thyroid gland (HP:0100031)

Parent Node:
Thyroid carcinoma (HP:0002890)

..Starting node
..Medullary thyroid carcinoma (HP:0002865)

Term ID:

2865

Name:

Medullary thyroid carcinoma

Synonym:

Medullary thyroid cancer

Definition:

The presence of a medullary carcinoma of the thyroid gland.

Comments:

Reference:

HP:0002865

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anaplastic thyroid carcinoma (HP:0011779)

Follicular thyroid carcinoma (HP:0006731)

Non-medullary thyroid carcinoma (HP:0040198)

Papillary thyroid carcinoma (HP:0002895)

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:0002865	HP:0002865	Medullary thyroid carcinoma	0	FLCN CL E G H	201163	27310	ORPHA:122	Birt-Hogg-Dubé syndrome	HP:0040283 - Occasional	332
HP:0002865	HP:0002865	Medullary thyroid carcinoma	0	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA		572
HP:0002865	HP:0002865	Medullary thyroid carcinoma	0	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB	.	572
HP:0002865	HP:0002865	Medullary thyroid carcinoma	0	RET CL E G H	5979	9967	OMIM:155240	Thyroid carcinoma, familial medullary	.	572

Genes (2) :FLCN RET

Diseases (4) :ORPHA:122 OMIM:171400 OMIM:162300 OMIM:155240

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