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:
Neoplasm of the skin (HP:0008069)

..Starting node
..Multiple cutaneous leiomyomas (HP:0007437)

Term ID:

7437

Name:

Multiple cutaneous leiomyomas

Synonym:

Definition:

The presence of multiple leiomyomas of the skin.

Comments:

Reference:

HP:0007437

Genes and Diseases:

Child Nodes:

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 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:0007437	HP:0007437	Multiple cutaneous leiomyomas	0	FH CL E G H	2271	3700	OMIM:150800	Hereditary leiomyomatosis and renal cell cancer	.	301
HP:0007437	HP:0007437	Multiple cutaneous leiomyomas	0	FH CL E G H	2271	3700	ORPHA:523	Hereditary leiomyomatosis and renal cell cancer	HP:0040281 - Very frequent	301

Genes (1) :FH

Diseases (2) :OMIM:150800 ORPHA:523

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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