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
..Neonatal omphalitis (HP:0032435)

Term ID:

32435

Name:

Neonatal omphalitis

Synonym:

Omphalitis; Umbilical cord stump infection

Definition:

An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period.

Comments:

Reference:

HP:0032435

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0032435	HP:0032435	Neonatal omphalitis	0	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A		38
HP:0032435	HP:0032435	Neonatal omphalitis	0	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia	HP:0040283 - Occasional	5
HP:0032435	HP:0032435	Neonatal omphalitis	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0032435	HP:0032435	Neonatal omphalitis	0	ITGB2 CL E G H	3689	6155	OMIM:116920	Leukocyte adhesion deficiency, type I		114
HP:0032435	HP:0032435	Neonatal omphalitis	0	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0032435	HP:0032435	Neonatal omphalitis	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0032435	HP:0032435	Neonatal omphalitis	0	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3

Genes (7) :CLPB FCGR3B G6PC3 ITGB2 RAC2 RBCK1 SMARCD2

Diseases (7) :OMIM:619835 ORPHA:464370 OMIM:612541 OMIM:116920 OMIM:608203 OMIM:615895 OMIM:617475

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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