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:
Neoplasm (HP:0002664)

Parent Node:
Abnormality of the nail (HP:0001597)

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

..Starting node
..Neoplasm of the nail (HP:0100826)

Term ID:

100826

Name:

Neoplasm of the nail

Synonym:

Nail tumor; Nail tumour

Definition:

A tumor (abnormal growth of tissue) of the nail.

Comments:

Reference:

HP:0100826

Genes and Diseases:

Child Nodes:

........

Ungual fibroma (HP:0100804)

Sister Nodes:

Hematological neoplasm (HP:0004377)

Malignant mesothelioma (HP:0100001)

Neoplasm of fatty tissue (HP:0200013)

Neoplasm of head and neck (HP:0012288)

Neoplasm of striated muscle (HP:0009728)

Neoplasm of the breast (HP:0100013)

Neoplasm of the ear (HP:0012780)

Neoplasm of the endocrine system (HP:0100568)

Neoplasm of the eye (HP:0100012)

Neoplasm of the gastrointestinal tract (HP:0007378)

Neoplasm of the genitourinary tract (HP:0007379)

Neoplasm of the heart (HP:0100544)

Neoplasm of the lip (HP:0100604)

Neoplasm of the nervous system (HP:0004375)

Neoplasm of the oral cavity (HP:0100649)

Neoplasm of the pancreas (HP:0002894)

Neoplasm of the respiratory system (HP:0100606)

Neoplasm of the skeletal system (HP:0010622)

Neoplasm of the skin (HP:0008069)

Neoplasm of the thymus (HP:0100521)

Retroperitoneal chemodectomas (HP:0006729)

Soft tissue neoplasm (HP:0031459)

Vascular neoplasm (HP:0100742)

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:0100826	HP:0100826	Neoplasm of the nail	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0100826	HP:0100826	Neoplasm of the nail	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis		1090
HP:0100826	HP:0100826	Neoplasm of the nail	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0100826	HP:0100826	Neoplasm of the nail	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis		2738
HP:0100826	HP:0100826	Neoplasm of the nail	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0100826	HP:0100804	Ungual fibroma	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional	23
HP:0100826	HP:0100804	Ungual fibroma	1	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent	1090
HP:0100826	HP:0100804	Ungual fibroma	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional	1090
HP:0100826	HP:0100804	Ungual fibroma	1	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent	2738
HP:0100826	HP:0100804	Ungual fibroma	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional	2738

Genes (3) :IFNG TSC1 TSC2

Diseases (2) :ORPHA:805 ORPHA:538

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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