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 the fontanelles or cranial sutures (HP:0000235)

Parent Node:
Abnormality of fontanelles (HP:0011328)

..Starting node
..Small fontanelle (HP:0005486)

Term ID:

5486

Name:

Small fontanelle

Synonym:

Little cranial sutures; Little fontanelle; Microfontanelle; Small bregma sutures; Small cranial sutures; Small soft spot

Definition:

A fontanelle that is small for age.

Comments:

Reference:

HP:0005486

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of the anterior fontanelle (HP:0000236)

Extra fontanelles (HP:0012367)

Large fontanelles (HP:0000239)

Premature closure of fontanelles (HP:0005458)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005486	HP:0005486	Small fontanelle	0	CL E G H

Genes (0) :

Diseases (0) :

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