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 adrenal gland (HP:0100631)

Parent Node:
Neoplasm of the adrenal cortex (HP:0100641)

..Starting node
..Adrenocortical carcinoma (HP:0006744)

Term ID:

6744

Name:

Adrenocortical carcinoma

Synonym:

Adrenal carcinoma; Adrenal gland carinoma

Definition:

A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone.

Comments:

Reference:

HP:0006744

Genes and Diseases:

Child Nodes:

Sister Nodes:

Adrenocortical adenoma (HP:0008256)

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:0006744	HP:0006744	Adrenocortical carcinoma	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli	.	3179
HP:0006744	HP:0006744	Adrenocortical carcinoma	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare	3179
HP:0006744	HP:0006744	Adrenocortical carcinoma	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040284 - Very rare	3179
HP:0006744	HP:0006744	Adrenocortical carcinoma	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0006744	HP:0006744	Adrenocortical carcinoma	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0006744	HP:0006744	Adrenocortical carcinoma	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.	114
HP:0006744	HP:0006744	Adrenocortical carcinoma	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040280 - Obligate	289
HP:0006744	HP:0006744	Adrenocortical carcinoma	0	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	289
HP:0006744	HP:0006744	Adrenocortical carcinoma	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0006744	HP:0006744	Adrenocortical carcinoma	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0006744	HP:0006744	Adrenocortical carcinoma	0	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	833
HP:0006744	HP:0006744	Adrenocortical carcinoma	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040280 - Obligate	88
HP:0006744	HP:0006744	Adrenocortical carcinoma	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0006744	HP:0006744	Adrenocortical carcinoma	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.	9
HP:0006744	HP:0006744	Adrenocortical carcinoma	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.	730
HP:0006744	HP:0006744	Adrenocortical carcinoma	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.	1
HP:0006744	HP:0006744	Adrenocortical carcinoma	0	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	1
HP:0006744	HP:0006744	Adrenocortical carcinoma	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0006744	HP:0006744	Adrenocortical carcinoma	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040280 - Obligate	134
HP:0006744	HP:0006744	Adrenocortical carcinoma	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040280 - Obligate	238
HP:0006744	HP:0006744	Adrenocortical carcinoma	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040280 - Obligate	911
HP:0006744	HP:0006744	Adrenocortical carcinoma	0	TP53 CL E G H	7157	11998	OMIM:202300	Adrenocortical carcinoma, pediatric	.	911
HP:0006744	HP:0006744	Adrenocortical carcinoma	0	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	911
HP:0006744	HP:0006744	Adrenocortical carcinoma	0	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome	.	911
HP:0006744	HP:0006744	Adrenocortical carcinoma	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040280 - Obligate

Genes (19) :APC CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CHEK2 CTNNB1 H19-ICR IGF2 KCNQ1 KCNQ1OT1 MDM2 MEN1 PRKAR1A TERT TP53 ZNRF3

Diseases (9) :OMIM:175100 ORPHA:247806 ORPHA:79665 ORPHA:652 OMIM:130650 ORPHA:1501 ORPHA:524 OMIM:202300 OMIM:151623

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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