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

Term ID:

5605

Name:

Large cafe-au-lait macules with irregular margins

Synonym:

Definition:

Large hypermelanotic macules with jagged borders.

Comments:

Reference:

HP:0005605

Genes and Diseases:

Child Nodes:

Sister Nodes:

Macular hyperpigmented dermopathy (HP:0007412)

Mongolian blue spot (HP:0011369)

Multiple lentigines (HP:0001003)

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:0005605	HP:0005605	Large cafe-au-lait macules with irregular margins	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	2
HP:0005605	HP:0005605	Large cafe-au-lait macules with irregular margins	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	102
HP:0005605	HP:0005605	Large cafe-au-lait macules with irregular margins	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	1
HP:0005605	HP:0005605	Large cafe-au-lait macules with irregular margins	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent
HP:0005605	HP:0005605	Large cafe-au-lait macules with irregular margins	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040281 - Very frequent	101
HP:0005605	HP:0005605	Large cafe-au-lait macules with irregular margins	0	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic	.	101
HP:0005605	HP:0005605	Large cafe-au-lait macules with irregular margins	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	462

Genes (6) :CDKN1A CDKN1B CDKN2B CDKN2C GNAS MEN1

Diseases (3) :ORPHA:652 ORPHA:562 OMIM:174800

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