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:
Irregular hyperpigmentation (HP:0007400)

Grandparent Node:
Macule (HP:0012733)

Parent Node:
Hypermelanotic macule (HP:0001034)

..Starting node
..Mongolian blue spot (HP:0011369)

Term ID:

11369

Name:

Mongolian blue spot

Synonym:

Definition:

Congenital deep dermal melanosis in the sacral area.

Comments:

Reference:

HP:0011369

Genes and Diseases:

Child Nodes:

Sister Nodes:

Large cafe-au-lait macules with irregular margins (HP:0005605)

Macular hyperpigmented dermopathy (HP:0007412)

Multiple lentigines (HP:0001003)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011369	HP:0011369	Mongolian blue spot	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM

Genes (1) :SVBP

Diseases (1) :OMIM:618569

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