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:
Abnormalities of placenta or umbilical cord (HP:0001194)

Parent Node:
Abnormality of the umbilical cord (HP:0010881)

..Starting node
..Umbilical cord hematoma (HP:0030657)

Term ID:

30657

Name:

Umbilical cord hematoma

Synonym:

Umbilical cord haematoma

Definition:

Bleeding from the vessels of the cord with extravasation of blood into the Wharton jelly surrounding the umbilical cord vessels.

Comments:

Reference:

HP:0030657

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal insertion of umbilical cord (HP:0011418)

Abnormal umbilical cord blood vessel morphology (HP:0011403)

Long umbilical cord (HP:0011417)

Short umbilical cord (HP:0001196)

Umbilical cord cyst (HP:0030654)

Umbilical cord knot (HP:0030655)

Umbilical vein varix (HP:0030656)

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:0030657	HP:0030657	Umbilical cord hematoma	0	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency	HP:0040281 - Very frequent	60
HP:0030657	HP:0030657	Umbilical cord hematoma	0	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency	HP:0040281 - Very frequent	32
HP:0030657	HP:0030657	Umbilical cord hematoma	0	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency	HP:0040283 - Occasional	39

Genes (3) :F13A1 F13B SERPINE1

Diseases (2) :ORPHA:331 ORPHA:465

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