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
..Small anterior fontanelle (HP:0000237)

Term ID:

237

Name:

Small anterior fontanelle

Synonym:

Small anterior fontanel; Small forehead fontanel

Definition:

Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms.

Comments:

Reference:

HP:0000237

Genes and Diseases:

Child Nodes:

Sister Nodes:

Delayed closure of the anterior fontanelle (HP:0001476)

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

Premature anterior fontanel closure (HP:0008491)

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:0000237	HP:0000237	Small anterior fontanelle	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.	168
HP:0000237	HP:0000237	Small anterior fontanelle	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0000237	HP:0000237	Small anterior fontanelle	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.	35
HP:0000237	HP:0000237	Small anterior fontanelle	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0000237	HP:0000237	Small anterior fontanelle	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0000237	HP:0000237	Small anterior fontanelle	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0000237	HP:0000237	Small anterior fontanelle	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	.

Genes (7) :ATR HYMAI MYCN ORC1 PLAGL1 RNU4ATAC VARS1

Diseases (6) :OMIM:210600 ORPHA:96191 OMIM:164280 OMIM:224690 OMIM:210710 OMIM:617802

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