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 metaphysis morphology (HP:0000944)

Parent Node:
Abnormal upper limb metaphysis morphology (HP:0009809)

Parent Node:
Metaphyseal irregularity (HP:0003025)

..Starting node
..Upper-limb metaphyseal irregularity (HP:0003850)

Term ID:

3850

Name:

Upper-limb metaphyseal irregularity

Synonym:

Irregular metaphyses of the upper limbs; Irregular wide portion of upper limb bones

Definition:

Comments:

Reference:

HP:0003850

Genes and Diseases:

Child Nodes:

........

Humeral metaphyseal irregularity (HP:0003913)

................... HP:0003951 Distal humeral metaphyseal irregularity
................... HP:0005043 Proximal humeral metaphyseal irregularity

........

Radial metaphyseal irregularity (HP:0004019)

........

Ulnar metaphyseal irregularity (HP:0004042)

Sister Nodes:

Irregular, rachitic-like metaphyses (HP:0005042)

Lower-limb metaphyseal irregularity (HP:0030291)

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:0003850	HP:0003850	Upper-limb metaphyseal irregularity	0	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type		79
HP:0003850	HP:0003850	Upper-limb metaphyseal irregularity	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0003850	HP:0003850	Upper-limb metaphyseal irregularity	0	RPL13 CL E G H	6137	10303	OMIM:618728	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST
HP:0003850	HP:0003913	Humeral metaphyseal irregularity	1	CL E G H
HP:0003850	HP:0004019	Radial metaphyseal irregularity	1	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040283 - Occasional	79
HP:0003850	HP:0004042	Ulnar metaphyseal irregularity	1	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040283 - Occasional	79
HP:0003850	HP:0004019	Radial metaphyseal irregularity	1	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0003850	HP:0004042	Ulnar metaphyseal irregularity	1	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0003850	HP:0005043	Proximal humeral metaphyseal irregularity	2	CL E G H
HP:0003850	HP:0003951	Distal humeral metaphyseal irregularity	2	CL E G H

Genes (3) :COL10A1 COMP RPL13

Diseases (3) :ORPHA:174 OMIM:177170 OMIM:618728

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