Human Phenotype Ontology

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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)

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

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

..Starting node
..Abnormal ulnar epiphysis morphology (HP:0004037)

Term ID:

4037

Name:

Abnormal ulnar epiphysis morphology

Synonym:

Abnormality of the epiphyseal plate of the ulna; Abnormality of the ulnar epiphyses

Definition:

Comments:

Reference:

HP:0004037

Genes and Diseases:

Child Nodes:

........

Abnormality of the styloid process of ulna (HP:0004035)

................... HP:0004036 Long styloid process of ulna
................... HP:0004981 Prominent styloid process of ulna
................... HP:0005068 Absent styloid process of ulna

........

Bony spikule of ulnar epiphyseal plate (HP:0004038)

........

Abnormality of the distal ulnar epiphysis (HP:0010600)

................... HP:0006370 Distal ulnar epiphyseal stippling

........

Abnormality of the proximal ulnar epiphysis (HP:0010601)

Sister Nodes:

Abnormal morphology of ulna (HP:0040071)

Abnormal olecranon morphology (HP:0004032)

Abnormal ulnar metaphysis morphology (HP:0004039)

Aplasia/Hypoplasia of the ulna (HP:0006495)

Dorsal subluxation of ulna (HP:0006459)

Exostoses of the ulna (HP:0003985)

Fractured ulna (HP:0003987)

Long ulna (HP:0003988)

Notched ulna (HP:0003989)

Osteosclerosis of the ulna (HP:0003991)

Pointed ulna (HP:0003990)

Posteriorly dislocated ulna (HP:0003984)

Radioulnar synostosis (HP:0002974)

Slender ulna (HP:0003992)

Ulnar bowing (HP:0003031)

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:0004037	HP:0004037	Abnormal ulnar epiphysis morphology	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked		7
HP:0004037	HP:0004037	Abnormal ulnar epiphysis morphology	0	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia		284
HP:0004037	HP:0004037	Abnormal ulnar epiphysis morphology	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional	166
HP:0004037	HP:0010601	Abnormal proximal ulnar epiphysis morphology	1	CL E G H
HP:0004037	HP:0010600	Abnormal distal ulnar epiphysis morphology	1	CL E G H
HP:0004037	HP:0004035	Abnormal ulnar styloid process morphology	1	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked		7
HP:0004037	HP:0004035	Abnormal ulnar styloid process morphology	1	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia		284
HP:0004037	HP:0006370	Distal ulnar epiphyseal stippling	2	CL E G H
HP:0004037	HP:0004036	Long styloid process of ulna	2	CL E G H
HP:0004037	HP:0004981	Prominent styloid process of ulna	2	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.	7
HP:0004037	HP:0005068	Absent styloid process of ulna	2	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284

Genes (3) :BGN COL2A1 SLC26A2

Diseases (3) :OMIM:300106 OMIM:271700 ORPHA:93307

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

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