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 long bone morphology (HP:0011314)

Grandparent Node:
Abnormality of limb bone morphology (HP:0002813)

Parent Node:
Abnormal metaphysis morphology (HP:0000944)

..Starting node
..Metaphyseal enchondromatosis (HP:0005868)

Term ID:

5868

Name:

Metaphyseal enchondromatosis

Synonym:

Definition:

An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins.

Comments:

Reference:

HP:0005868

Genes and Diseases:

Child Nodes:

........

Metaphyseal chondromatosis of tibia (HP:0030294)

........

Metaphyseal chondromatosis of femur (HP:0030295)

........

Metaphyseal chondromatosis of radius (HP:0030296)

........

Metaphyseal chondromatosis of ulna (HP:0030297)

........

Metaphyseal chondromatosis of humerus (HP:0030298)

Sister Nodes:

Abnormal lower-limb metaphysis morphology (HP:0006490)

Abnormal metaphyseal trabeculation (HP:0005089)

Abnormal metaphyseal vascular invasion (HP:0003562)

Abnormal upper limb metaphysis morphology (HP:0009809)

Alternating radiolucent and radiodense metaphyseal lines (HP:0031016)

Corner fracture of metaphysis (HP:0003908)

Dense metaphyseal bands (HP:0100959)

Dumbbell-shaped metaphyses (HP:0002810)

Enlarged metaphyses (HP:0003051)

Metaphyseal cupping (HP:0003021)

Metaphyseal dysplasia (HP:0100255)

Metaphyseal irregularity (HP:0003025)

Metaphyseal rarefaction (HP:0004980)

Metaphyseal sclerosis (HP:0004979)

Metaphyseal spurs (HP:0005054)

Metaphyseal striations (HP:0031367)

Metaphyseal widening (HP:0003016)

obsolete Metaphyseal dysostosis (HP:0005899)

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:0005868	HP:0005868	Metaphyseal enchondromatosis	0	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis	HP:0040282 - Frequent	284
HP:0005868	HP:0005868	Metaphyseal enchondromatosis	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0005868	HP:0030298	Metaphyseal chondromatosis of humerus	1	CL E G H
HP:0005868	HP:0030296	Metaphyseal chondromatosis of radius	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0005868	HP:0030295	Metaphyseal chondromatosis of femur	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0005868	HP:0030294	Metaphyseal chondromatosis of tibia	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0005868	HP:0030297	Metaphyseal chondromatosis of ulna	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15

Genes (2) :COL2A1 IDH1

Diseases (2) :ORPHA:85198 ORPHA:99646

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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