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 morphology of ulna (HP:0040071)

Grandparent Node:
Aplasia/Hypoplasia of the ulna (HP:0006495)

Grandparent Node:
Forearm undergrowth (HP:0009821)

Parent Node:
Hypoplasia of the ulna (HP:0003022)

..Starting node
..Distal ulnar hypoplasia (HP:0005033)

Term ID:

5033

Name:

Distal ulnar hypoplasia

Synonym:

Distal shortening of ulna; Hypoplastic distal ulna

Definition:

Underdevelopment of the distal portion of the ulna.

Comments:

Reference:

HP:0005033

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bilateral ulnar hypoplasia (HP:0005648)

Unilateral ulnar hypoplasia (HP:0005036)

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:0005033	HP:0005033	Distal ulnar hypoplasia	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.	11

Genes (1) :SCARF2

Diseases (1) :OMIM:600920

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