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
..Short umbilical cord (HP:0001196)

Term ID:

1196

Name:

Short umbilical cord

Synonym:

Short umbilical cord

Definition:

Decreased length of the umbilical cord.

Comments:

Reference:

HP:0001196

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)

Umbilical cord cyst (HP:0030654)

Umbilical cord hematoma (HP:0030657)

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:0001196	HP:0001196	Short umbilical cord	0	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9	HP:0040283 - Occasional	5
HP:0001196	HP:0001196	Short umbilical cord	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	645
HP:0001196	HP:0001196	Short umbilical cord	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.	72
HP:0001196	HP:0001196	Short umbilical cord	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0001196	HP:0001196	Short umbilical cord	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	83
HP:0001196	HP:0001196	Short umbilical cord	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83

Genes (5) :ADGRG6 LMNA MUSK PHGDH ZMPSTE24

Diseases (5) :OMIM:616503 ORPHA:1662 OMIM:208150 OMIM:256520 OMIM:275210

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