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 inferior pubic rami (HP:0008823)

Term ID:

8823

Name:

Hypoplastic inferior pubic rami

Synonym:

Definition:

Comments:

Reference:

HP:0008823

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplastic ischiopubic rami (HP:0008822)

Hypoplastic pubic rami (HP:0008830)

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:0008823	HP:0008823	Hypoplastic inferior pubic rami	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.	141

Genes (1) :KAT6B

Diseases (1) :OMIM:606170

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