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:
Abnormal upper limb metaphysis morphology (HP:0009809)

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

..Starting node
..Abnormal ulnar metaphysis morphology (HP:0004039)

Term ID:

4039

Name:

Abnormal ulnar metaphysis morphology

Synonym:

Abnormality of ulnar metaphysis

Definition:

Any structural abnormality of the portion of the ulna between the epiphysis and the diaphysis.

Comments:

Reference:

HP:0004039

Genes and Diseases:

Child Nodes:

........

Corner fragments of ulnar metaphysis (HP:0004040)

........

Cupped ulnar metaphysis (HP:0004041)

........

Ulnar metaphyseal irregularity (HP:0004042)

........

Lytic defects of ulnar metaphysis (HP:0004043)

........

Pointed ulnar metaphysis (HP:0004044)

........

Sloping ulnar metaphysis (HP:0004045)

........

Spurred ulnar metaphysis (HP:0004046)

........

Wide ulnar metaphysis (HP:0004047)

Sister Nodes:

Abnormal morphology of ulna (HP:0040071)

Abnormal olecranon morphology (HP:0004032)

Abnormal ulnar epiphysis morphology (HP:0004037)

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:0004039	HP:0004039	Abnormal ulnar metaphysis morphology	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040284 - Very rare	2
HP:0004039	HP:0004039	Abnormal ulnar metaphysis morphology	0	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type		79
HP:0004039	HP:0004039	Abnormal ulnar metaphysis morphology	0	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis	HP:0040282 - Frequent	284
HP:0004039	HP:0004039	Abnormal ulnar metaphysis morphology	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0004039	HP:0004039	Abnormal ulnar metaphysis morphology	0	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040283 - Occasional	63
HP:0004039	HP:0004039	Abnormal ulnar metaphysis morphology	0	MMP13 CL E G H	4322	7159	ORPHA:1040	Metaphyseal anadysplasia	HP:0040281 - Very frequent	52
HP:0004039	HP:0004039	Abnormal ulnar metaphysis morphology	0	MMP9 CL E G H	4318	7176	ORPHA:1040	Metaphyseal anadysplasia	HP:0040281 - Very frequent	31
HP:0004039	HP:0004039	Abnormal ulnar metaphysis morphology	0	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040283 - Occasional
HP:0004039	HP:0004039	Abnormal ulnar metaphysis morphology	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040283 - Occasional	445
HP:0004039	HP:0004039	Abnormal ulnar metaphysis morphology	0	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040283 - Occasional	37
HP:0004039	HP:0004041	Cupped ulnar metaphysis	1	CL E G H
HP:0004039	HP:0004040	Corner fragments of ulnar metaphysis	1	CL E G H
HP:0004039	HP:0004047	Wide ulnar metaphysis	1	CL E G H
HP:0004039	HP:0004046	Spurred ulnar metaphysis	1	CL E G H
HP:0004039	HP:0004045	Sloping ulnar metaphysis	1	CL E G H
HP:0004039	HP:0004044	Pointed ulnar metaphysis	1	CL E G H
HP:0004039	HP:0004043	Lytic defects of ulnar metaphysis	1	CL E G H
HP:0004039	HP:0004042	Ulnar metaphyseal irregularity	1	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040283 - Occasional	79
HP:0004039	HP:0004042	Ulnar metaphyseal irregularity	1	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89

Genes (10) :ANAPC1 COL10A1 COL2A1 COMP MAGEL2 MMP13 MMP9 NDN RECQL4 SNRPN

Diseases (7) :ORPHA:221008 ORPHA:174 ORPHA:85198 OMIM:177170 ORPHA:177910 ORPHA:1040 ORPHA:221016

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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