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:
Abnormal long bone morphology (HP:0011314)

Parent Node:
obsolete Abnormality of the ulna (HP:0002997)

Parent Node:
Slender forearm bones (HP:0003969)

Parent Node:
Slender long bone (HP:0003100)

..Starting node
..Slender ulna (HP:0003992)

Term ID:

3992

Name:

Slender ulna

Synonym:

Definition:

Reduction in diameter of the ulna.

Comments:

Reference:

HP:0003992

Genes and Diseases:

Child Nodes:

Sister Nodes:

Slender humerus (HP:0003882)

Slender long bones with narrow diaphyses (HP:0004993)

Slender radius (HP:0040062)

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:0003992	HP:0003992	Slender ulna	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1	.	135

Genes (1) :RAB3GAP2

Diseases (1) :OMIM:212720

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