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:
Abnormality of the skin (HP:0000951)

Grandparent Node:
Neoplasm by anatomical site (HP:0011793)

Parent Node:
Abnormality of facial soft tissue (HP:0011799)

Parent Node:
Angiofibromas (HP:0010615)

Parent Node:
Neoplasm of the skin (HP:0008069)

..Starting node
..Adenoma sebaceum (HP:0009720)

Term ID:

9720

Name:

Adenoma sebaceum

Synonym:

Facial angiofibromas; Sebaceous adenoma; Sebaceous adenomas

Definition:

The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin.

Comments:

Reference:

HP:0009720

Genes and Diseases:

Child Nodes:

Sister Nodes:

Acanthoma (HP:0025432)

Actinic keratosis (HP:0025127)

Basal cell carcinoma (HP:0002671)

Cutaneous angiolipomas (HP:0006773)

Cutaneous leiomyoma (HP:0007620)

Cutaneous leiomyosarcoma (HP:0006755)

Cutaneous mastocytosis (HP:0200151)

Cutaneous melanoma (HP:0012056)

Cutaneous myxoma (HP:0030428)

Eccrine syringofibroadenoma (HP:0031018)

Fibrofolliculoma (HP:0030436)

Frontal cutaneous lipoma (HP:0007541)

Kaposi's sarcoma (HP:0100726)

Keratoacanthoma (HP:0031525)

Lymphocytoma cutis (HP:0031549)

Merkel cell skin cancer (HP:0030447)

Multiple cutaneous leiomyomas (HP:0007437)

Multiple cutaneous malignancies (HP:0007606)

Myxoid subcutaneous tumors (HP:0006769)

Neurofibromas (HP:0001067)

Papilloma (HP:0012740)

Peripheral Schwannoma (HP:0009593)

Seborrheic keratosis (HP:0031287)

Skin appendage neoplasm (HP:0012842)

Squamous cell carcinoma (HP:0002860)

Steatocystoma multiplex (HP:0012035)

Subcutaneous lipoma (HP:0001031)

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:0009720	HP:0009720	Adenoma sebaceum	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	54
HP:0009720	HP:0009720	Adenoma sebaceum	0	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	113
HP:0009720	HP:0009720	Adenoma sebaceum	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2	.	23
HP:0009720	HP:0009720	Adenoma sebaceum	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	1
HP:0009720	HP:0009720	Adenoma sebaceum	0	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	196
HP:0009720	HP:0009720	Adenoma sebaceum	0	KRT17 CL E G H	3872	6427	ORPHA:841	Sebocystomatosis	HP:0040281 - Very frequent	23
HP:0009720	HP:0009720	Adenoma sebaceum	0	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1	.	462
HP:0009720	HP:0009720	Adenoma sebaceum	0	MLH1 CL E G H	4292	7127	ORPHA:587	Muir-Torre syndrome	HP:0040281 - Very frequent	1819
HP:0009720	HP:0009720	Adenoma sebaceum	0	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome	.	1819
HP:0009720	HP:0009720	Adenoma sebaceum	0	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome	.	2162
HP:0009720	HP:0009720	Adenoma sebaceum	0	MSH2 CL E G H	4436	7325	ORPHA:587	Muir-Torre syndrome	HP:0040281 - Very frequent	2162
HP:0009720	HP:0009720	Adenoma sebaceum	0	MSH6 CL E G H	2956	7329	ORPHA:587	Muir-Torre syndrome	HP:0040281 - Very frequent	2232
HP:0009720	HP:0009720	Adenoma sebaceum	0	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	102
HP:0009720	HP:0009720	Adenoma sebaceum	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	162
HP:0009720	HP:0009720	Adenoma sebaceum	0	PLCD1 CL E G H	5333	9060	ORPHA:2387	Leukonychia totalis	HP:0040281 - Very frequent	5
HP:0009720	HP:0009720	Adenoma sebaceum	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	948
HP:0009720	HP:0009720	Adenoma sebaceum	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	237
HP:0009720	HP:0009720	Adenoma sebaceum	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	147
HP:0009720	HP:0009720	Adenoma sebaceum	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	129
HP:0009720	HP:0009720	Adenoma sebaceum	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	60
HP:0009720	HP:0009720	Adenoma sebaceum	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.	1090
HP:0009720	HP:0009720	Adenoma sebaceum	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2	.	2738
HP:0009720	HP:0009720	Adenoma sebaceum	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	1

Genes (21) :AKT1 HRAS IFNG KLLN KRAS KRT17 MEN1 MLH1 MSH2 MSH6 NRAS PIK3CA PLCD1 PTEN SDHB SDHC SDHD SEC23B TSC1 TSC2 USF3

Diseases (9) :ORPHA:201 ORPHA:2612 OMIM:613254 ORPHA:841 OMIM:131100 ORPHA:587 OMIM:158320 ORPHA:2387 OMIM:191100

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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