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:
Neuroblastic tumor (HP:0004376)

Grandparent Node:
Peripheral primitive neuroectodermal neoplasm (HP:0030067)

Parent Node:
Neuroblastoma (HP:0003006)

..Starting node
..Localized neuroblastoma (HP:0006768)

Term ID:

6768

Name:

Localized neuroblastoma

Synonym:

Localised neuroblastoma

Definition:

Comments:

Reference:

HP:0006768

Genes and Diseases:

Child Nodes:

Sister Nodes:

Congenital neuroblastoma (HP:0006742)

Ganglioneuroblastoma (HP:0006747)

Olfactory esthesioneuroblastoma (HP:0030068)

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:0006768	HP:0006768	Localized neuroblastoma	0	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional	4
HP:0006768	HP:0006768	Localized neuroblastoma	0	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional	14
HP:0006768	HP:0006768	Localized neuroblastoma	0	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	.	14

Genes (2) :MAPRE2 TUBB

Diseases (2) :ORPHA:2505 OMIM:156610

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.