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 involving the carpal bones (HP:0006502)

Parent Node:
Carpal bone aplasia (HP:0004231)

..Starting node
..Absent scaphoid (HP:0011835)

Term ID:

11835

Name:

Absent scaphoid

Synonym:

Absent scaphoid bone; Missing scaphoid bone

Definition:

Congenital absence of the scaphoid..

Comments:

Reference:

HP:0011835

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:0011835	HP:0011835	Absent scaphoid	0	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U	.	125

Genes (1) :XRCC2

Diseases (1) :OMIM:617247

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