Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 prenatal development or birth (HP:0001197)

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

..Starting node
..Absence of stomach bubble on fetal sonography (HP:0010963)

Term ID:

10963

Name:

Absence of stomach bubble on fetal sonography

Synonym:

Absence of stomach bubble on foetal sonography; Absent stomach bubble; Non-visualisation of the fetal stomach

Definition:

By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation.

Comments:

Reference:

HP:0010963

Genes and Diseases:

Child Nodes:

Sister Nodes:

Echogenic fetal bowel (HP:0010943)

Echogenic intracardiac focus (HP:0010942)

Enlarged fetal cisterna magna (HP:0011427)

Fetal choroid plexus cysts (HP:0011426)

Fetal fifth finger clinodactyly (HP:0011431)

Fetal pyelectasis (HP:0010945)

Hypoplasia of fetal nasal bone (HP:0011430)

Mild fetal ventriculomegaly (HP:0010952)

Short fetal femur length (HP:0011428)

Short fetal humerus length (HP:0011429)

Single umbilical artery (HP:0001195)

Thickened nuchal skin fold (HP:0000474)

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:0010963	HP:0010963	Absence of stomach bubble on fetal sonography	0	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked	58
HP:0010963	HP:0010963	Absence of stomach bubble on fetal sonography	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	133
HP:0010963	HP:0010963	Absence of stomach bubble on fetal sonography	0	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked	39

Genes (3) :FANCB TRIP11 ZIC3

Diseases (2) :OMIM:314390 OMIM:200600

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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