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:
Abnormality of fontanelles (HP:0011328)

Parent Node:
Abnormality of the anterior fontanelle (HP:0000236)

..Starting node
..Midline skin dimples over anterior/posterior fontanelles (HP:0005498)

Term ID:

5498

Name:

Midline skin dimples over anterior/posterior fontanelles

Synonym:

Definition:

Comments:

Reference:

HP:0005498

Genes and Diseases:

Child Nodes:

Sister Nodes:

Delayed closure of the anterior fontanelle (HP:0001476)

Premature anterior fontanel closure (HP:0008491)

Small anterior fontanelle (HP:0000237)

Wide anterior fontanel (HP:0000260)

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:0005498	HP:0005498	Midline skin dimples over anterior/posterior fontanelles	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25

Genes (1) :UBR1

Diseases (1) :OMIM:243800

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