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

..Starting node
..Delayed umbilical cord separation (HP:0032434)

Term ID:

32434

Name:

Delayed umbilical cord separation

Synonym:

Delayed separation of umbilical cord

Definition:

Separation of the umbilical cord occurs at an abnormally late timepoint.

Comments:

Reference:

HP:0032434

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0032434	HP:0032434	Delayed umbilical cord separation	0	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0032434	HP:0032434	Delayed umbilical cord separation	0	ITGB2 CL E G H	3689	6155	OMIM:116920	Leukocyte adhesion deficiency, type I	114
HP:0032434	HP:0032434	Delayed umbilical cord separation	0	MYD88 CL E G H	4615	7562	OMIM:612260	MYD88 DEFICIENCY; MYD88D	9
HP:0032434	HP:0032434	Delayed umbilical cord separation	0	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	9
HP:0032434	HP:0032434	Delayed umbilical cord separation	0	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2	3

Genes (5) :IL6ST ITGB2 MYD88 RAC2 SMARCD2

Diseases (5) :OMIM:619752 OMIM:116920 OMIM:612260 OMIM:608203 OMIM:617475

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