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
..Dense metaphyseal bands (HP:0100959)

Term ID:

100959

Name:

Dense metaphyseal bands

Synonym:

Dense metaphyseal band sign; Dense metaphyseal lines; Lead lines in metaphyses of bones; Transverse metaphyseal bands

Definition:

Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones. They appear on radiographs as bone that is more radiopaque that the adjacent diaphyseal cortex.

Comments:

Reference:

HP:0100959

Genes and Diseases:

Child Nodes:

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)

Dumbbell-shaped metaphyses (HP:0002810)

Enlarged metaphyses (HP:0003051)

Metaphyseal cupping (HP:0003021)

Metaphyseal dysplasia (HP:0100255)

Metaphyseal enchondromatosis (HP:0005868)

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	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100959	HP:0100959	Dense metaphyseal bands	0	LRRK1 CL E G H	79705	18608	OMIM:615198	Osteosclerotic metaphyseal dysplasia	1
HP:0100959	HP:0100959	Dense metaphyseal bands	0	PLEKHM1 CL E G H	9842	29017	OMIM:611497	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6; OPTB6	2

Genes (2) :LRRK1 PLEKHM1

Diseases (2) :OMIM:615198 OMIM:611497

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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