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 skin pigmentation (HP:0001000)

Parent Node:
Freckling (HP:0001480)

..Starting node
..Inguinal freckling (HP:0030052)

Term ID:

30052

Name:

Inguinal freckling

Synonym:

Freckles in groin region

Definition:

The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.

Comments:

Reference:

HP:0030052

Genes and Diseases:

Child Nodes:

Sister Nodes:

Axillary freckling (HP:0000997)

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:0030052	HP:0030052	Inguinal freckling	0	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease	HP:0040282 - Frequent	173
HP:0030052	HP:0030052	Inguinal freckling	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040282 - Frequent	1952
HP:0030052	HP:0030052	Inguinal freckling	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0030052	HP:0030052	Inguinal freckling	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0030052	HP:0030052	Inguinal freckling	0	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome		1952
HP:0030052	HP:0030052	Inguinal freckling	0	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease	HP:0040282 - Frequent	2
HP:0030052	HP:0030052	Inguinal freckling	0	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease	HP:0040282 - Frequent	6
HP:0030052	HP:0030052	Inguinal freckling	0	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease	HP:0040282 - Frequent	2
HP:0030052	HP:0030052	Inguinal freckling	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136

Genes (6) :KRT5 NF1 POFUT1 POGLUT1 PSENEN SPRED1

Diseases (6) :ORPHA:79145 ORPHA:363700 OMIM:162200 OMIM:601321 OMIM:193520 ORPHA:137605

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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