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:
Aplasia/Hypoplasia of the pubic bone (HP:0009104)

Parent Node:
Hypoplastic pubic bone (HP:0003173)

..Starting node
..Hypoplastic pubic rami (HP:0008830)

Term ID:

8830

Name:

Hypoplastic pubic rami

Synonym:

Definition:

Comments:

Reference:

HP:0008830

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplastic inferior pubic rami (HP:0008823)

Hypoplastic ischiopubic rami (HP:0008822)

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:0008830	HP:0008830	Hypoplastic pubic rami	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	1
HP:0008830	HP:0008830	Hypoplastic pubic rami	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0008830	HP:0008830	Hypoplastic pubic rami	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0008830	HP:0008830	Hypoplastic pubic rami	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0008830	HP:0008830	Hypoplastic pubic rami	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	118
HP:0008830	HP:0008830	Hypoplastic pubic rami	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	7

Genes (6) :CPLX1 CTBP1 LETM1 NELFA NSD2 PIGG

Diseases (1) :ORPHA:280

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