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:
Localized skin lesion (HP:0011355)

Parent Node:
Cafe-au-lait spot (HP:0000957)

..Starting node
..Few cafe-au-lait spots (HP:0007429)

Term ID:

7429

Name:

Few cafe-au-lait spots

Synonym:

Definition:

The presence of two to five cafe-au-lait macules.

Comments:

Reference:

HP:0007429

Genes and Diseases:

Child Nodes:

Sister Nodes:

Multiple cafe-au-lait spots (HP:0007565)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007429	HP:0007429	Few cafe-au-lait spots	0	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3	276
HP:0007429	HP:0007429	Few cafe-au-lait spots	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0007429	HP:0007429	Few cafe-au-lait spots	0	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2	68
HP:0007429	HP:0007429	Few cafe-au-lait spots	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58	1
HP:0007429	HP:0007429	Few cafe-au-lait spots	0	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3	2

Genes (5) :BRAF GNB2 RBBP8 SET TRIP13

Diseases (5) :OMIM:613707 OMIM:619503 OMIM:606744 OMIM:618106 OMIM:617598

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