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:
Abnormality of upper limb epiphysis morphology (HP:0003839)

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

Parent Node:
Abnormal ulnar epiphysis morphology (HP:0004037)

..Starting node
..Abnormal ulnar styloid process morphology (HP:0004035)

Term ID:

4035

Name:

Abnormal ulnar styloid process morphology

Synonym:

Abnormality of the styloid process of ulna

Definition:

Comments:

Reference:

HP:0004035

Genes and Diseases:

Child Nodes:

........

Long styloid process of ulna (HP:0004036)

........

Prominent styloid process of ulna (HP:0004981)

........

Absent styloid process of ulna (HP:0005068)

Sister Nodes:

Abnormal distal ulnar epiphysis morphology (HP:0010600)

Abnormal proximal ulnar epiphysis morphology (HP:0010601)

obsolete Bony spicule of ulnar epiphyseal plate (HP:0004038)

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:0004035	HP:0004035	Abnormal ulnar styloid process morphology	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked		7
HP:0004035	HP:0004035	Abnormal ulnar styloid process morphology	0	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia		284
HP:0004035	HP:0004036	Long styloid process of ulna	1	CL E G H
HP:0004035	HP:0004981	Prominent styloid process of ulna	1	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.	7
HP:0004035	HP:0005068	Absent styloid process of ulna	1	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284

Genes (2) :BGN COL2A1

Diseases (2) :OMIM:300106 OMIM:271700

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