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:
Abnormality of the pubic bone (HP:0003172)

Grandparent Node:
Aplasia/Hypoplasia involving the pelvis (HP:0009103)

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

..Starting node
..Aplastic pubic bones (HP:0008817)

Term ID:

8817

Name:

Aplastic pubic bones

Synonym:

Absent pubic bones

Definition:

Comments:

Reference:

HP:0008817

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplastic pubic bone (HP:0003173)

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:0008817	HP:0008817	Aplastic pubic bones	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency	.	13

Genes (1) :WNT7A

Diseases (1) :OMIM:276820

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