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:
Abnormal cerebral ventricle morphology (HP:0002118)

Parent Node:
Fetal ultrasound soft marker (HP:0011425)

Parent Node:
Ventriculomegaly (HP:0002119)

..Starting node
..Mild fetal ventriculomegaly (HP:0010952)

Term ID:

10952

Name:

Mild fetal ventriculomegaly

Synonym:

Mild foetal ventriculomegaly

Definition:

A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (PMID:16100637).

Comments:

Reference:

HP:0010952

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dilated fourth ventricle (HP:0002198)

Dilated third ventricle (HP:0007082)

Enlarged cisterna magna (HP:0002280)

Enlarged fossa interpeduncularis (HP:0100951)

Enlarged interhemispheric fissure (HP:0100953)

Enlarged sylvian cistern (HP:0100952)

Lateral ventricle dilatation (HP:0006956)

Progressive ventriculomegaly (HP:0007100)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010952	HP:0010952	Mild fetal ventriculomegaly	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	7
HP:0010952	HP:0010952	Mild fetal ventriculomegaly	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0010952	HP:0010952	Mild fetal ventriculomegaly	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0010952	HP:0010952	Mild fetal ventriculomegaly	0	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2	60

Genes (4) :ASXL2 CDC42BPB DPYSL5 MRPS16

Diseases (4) :OMIM:617190 OMIM:619841 OMIM:619435 OMIM:610498

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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