Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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 forearm bone morphology (HP:0040072)

Grandparent Node:
obsolete Abnormal morphology of bones of the upper limbs (HP:0040065)

Parent Node:
Abnormal distal ulnar epiphysis morphology (HP:0010600)

Parent Node:
Epiphyseal stippling (HP:0010655)

Parent Node:
Obsolete Abnormal forearm bone morphology (HP:0040073)

..Starting node
..Distal ulnar epiphyseal stippling (HP:0006370)

Term ID:

6370

Name:

Distal ulnar epiphyseal stippling

Synonym:

Distal ulnar epiphyseal calcifications

Definition:

The presence of abnormal punctate (speckled, dot-like) calcifications in the distal epiphysis of the ulna.

Comments:

Reference:

HP:0006370

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal morphology of ulna (HP:0040071)

Angulated forearm bones (HP:0003954)

Bowed forearm bones (HP:0003956)

Broad forearm bones (HP:0003971)

Deformed forearm bones (HP:0003959)

Fractured forearm bones (HP:0003961)

obsolete Abnormal morphology of the radius (HP:0045009)

Slender forearm bones (HP:0003969)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006370	HP:0006370	Distal ulnar epiphyseal stippling	0	CL E G H

Genes (0) :

Diseases (0) :

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