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:
Abnormality of the skin (HP:0000951)

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

Parent Node:
Abnormality of subcutaneous fat tissue (HP:0001001)

Parent Node:
Multiple lipomas (HP:0001012)

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

..Starting node
..Subcutaneous lipoma (HP:0001031)

Term ID:

1031

Name:

Subcutaneous lipoma

Synonym:

Definition:

The presence of subcutaneous lipoma.

Comments:

Reference:

HP:0001031

Genes and Diseases:

Child Nodes:

........

Painful subcutaneous lipomas (HP:0007596)

Sister Nodes:

Acanthoma (HP:0025432)

Actinic keratosis (HP:0025127)

Adenoma sebaceum (HP:0009720)

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)

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:0001031	HP:0001031	Subcutaneous lipoma	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.	54
HP:0001031	HP:0001031	Subcutaneous lipoma	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040284 - Very rare	385
HP:0001031	HP:0001031	Subcutaneous lipoma	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040282 - Frequent	102
HP:0001031	HP:0001031	Subcutaneous lipoma	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0001031	HP:0001031	Subcutaneous lipoma	0	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1	.	462
HP:0001031	HP:0001031	Subcutaneous lipoma	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5	.	162
HP:0001031	HP:0001031	Subcutaneous lipoma	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.	948
HP:0001031	HP:0001031	Subcutaneous lipoma	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040284 - Very rare	948
HP:0001031	HP:0001031	Subcutaneous lipoma	0	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome	HP:0040281 - Very frequent	948
HP:0001031	HP:0007596	Painful subcutaneous lipomas	1	CL E G H

Genes (7) :AKT1 BMPR1A CDKN1B FGFR1 MEN1 PIK3CA PTEN

Diseases (8) :OMIM:615109 ORPHA:79076 ORPHA:276152 OMIM:613001 OMIM:131100 OMIM:615108 OMIM:158350 ORPHA:2969

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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