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
..Premature closure of fontanelles (HP:0005458)

Term ID:

5458

Name:

Premature closure of fontanelles

Synonym:

Early closure of the bregma sutures; Early closure of the cranial sutures; Early closure of the fontanelles; Obliterated fontanelles; Premature closure of the bregma sutures; Premature closure of the cranial sutures

Definition:

Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point.

Comments:

Reference:

HP:0005458

Genes and Diseases:

Child Nodes:

........

Premature posterior fontanelle closure (HP:0005494)

Sister Nodes:

Abnormality of the anterior fontanelle (HP:0000236)

Extra fontanelles (HP:0012367)

Large fontanelles (HP:0000239)

Small fontanelle (HP:0005486)

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:0005458	HP:0005458	Premature closure of fontanelles	0	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10	.	159
HP:0005458	HP:0005458	Premature closure of fontanelles	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.	20
HP:0005458	HP:0005458	Premature closure of fontanelles	0	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia		2
HP:0005458	HP:0005494	Premature posterior fontanelle closure	1	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia	HP:0040282 - Frequent	2

Genes (3) :CTSD ERCC1 SIX2

Diseases (3) :OMIM:610127 OMIM:610758 ORPHA:488437

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

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