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:
Abnormal morphology of ulna (HP:0040071)

Parent Node:
Broad forearm bones (HP:0003971)

Parent Node:
Broad long bones (HP:0005622)

..Starting node
..Broad ulna (HP:0003993)

Term ID:

3993

Name:

Broad ulna

Synonym:

Wide ulna

Definition:

Increased width of the ulna.

Comments:

Reference:

HP:0003993

Genes and Diseases:

Child Nodes:

Sister Nodes:

Broad phalanx (HP:0006009)

Broad radius (HP:0003981)

Increased fibular diameter (HP:0012107)

Wide humerus (HP:0003886)

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:0003993	HP:0003993	Broad ulna	0	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia	.	66

Genes (1) :SHOX

Diseases (1) :OMIM:249700

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