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:
Premature closure of fontanelles (HP:0005458)

..Starting node
..Premature posterior fontanelle closure (HP:0005494)

Term ID:

5494

Name:

Premature posterior fontanelle closure

Synonym:

Definition:

Comments:

Reference:

HP:0005494

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0005494	HP:0005494	Premature posterior fontanelle closure	0	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia	HP:0040282 - Frequent	2

Genes (1) :SIX2

Diseases (1) :ORPHA:488437

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