Human Phenotype Ontology 
Grandparent Node:
expandAbnormal long bone morphology (HP:0011314)help
Grandparent Node:
expandAbnormality of limb bone morphology (HP:0002813)help
Parent Node:
expandAbnormal metaphysis morphology (HP:0000944)help
..Starting node
..expandMetaphyseal sclerosis (HP:0004979)help
Term ID: 4979
Name: Metaphyseal sclerosis
Synonym: Increased bone density in wide portion of long bone; Sclerotic metaphyses
Definition: Abnormally increased density of metaphyseal bone.
Comments:
Reference: HP:0004979
Genes and Diseases:
 
       Child Nodes:
........expandStreaky metaphyseal sclerosis (HP:0005092) help
........expandMetaphyseal dappling (HP:0011860) help

 Sister Nodes: 
..expandAbnormal lower-limb metaphysis morphology (HP:0006490) help
..expandAbnormal metaphyseal trabeculation (HP:0005089) help
..expandAbnormal metaphyseal vascular invasion (HP:0003562) help
..expandAbnormal upper limb metaphysis morphology (HP:0009809) help
..expandAlternating radiolucent and radiodense metaphyseal lines (HP:0031016) help
..expandCorner fracture of metaphysis (HP:0003908) help
..expandDense metaphyseal bands (HP:0100959) help
..expandDumbbell-shaped metaphyses (HP:0002810) help
..expandEnlarged metaphyses (HP:0003051) help
..expandMetaphyseal cupping (HP:0003021) help
..expandMetaphyseal dysplasia (HP:0100255) help
..expandMetaphyseal enchondromatosis (HP:0005868) help
..expandMetaphyseal irregularity (HP:0003025) help
..expandMetaphyseal rarefaction (HP:0004980) help
..expandMetaphyseal spurs (HP:0005054) help
..expandMetaphyseal striations (HP:0031367) help
..expandMetaphyseal widening (HP:0003016) help
..expandobsolete Metaphyseal dysostosis (HP:0005899) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004979HP:0004979Metaphyseal sclerosis0ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation.16
HP:0004979HP:0004979Metaphyseal sclerosis0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040284 - Very rare2
HP:0004979HP:0004979Metaphyseal sclerosis0CENPE CL E G H10621856OMIM:616051Microcephaly 13, primary, autosomal recessive.20
HP:0004979HP:0004979Metaphyseal sclerosis0COL10A1 CL E G H13002185OMIM:156500Metaphyseal chondrodysplasia, Schmid type79
HP:0004979HP:0004979Metaphyseal sclerosis0COL2A1 CL E G H12802200OMIM:184250Spondyloepimetaphyseal dysplasia, Strudwick type284
HP:0004979HP:0004979Metaphyseal sclerosis0CTC1 CL E G H8016926169OMIM:612199Cerebroretinal microangiopathy with calcifications and cysts.160
HP:0004979HP:0004979Metaphyseal sclerosis0DNAJC21 CL E G H13421827030OMIM:260400Shwachman-Diamond syndrome 15
HP:0004979HP:0004979Metaphyseal sclerosis0KIF22 CL E G H38356391OMIM:603546Spondyloepimetaphyseal dysplasia with joint laxity, type 214
HP:0004979HP:0004979Metaphyseal sclerosis0MMP13 CL E G H43227159OMIM:250400Metaphyseal chondrodysplasia, Spahr type.52
HP:0004979HP:0004979Metaphyseal sclerosis0RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2HP:0040283 - Occasional445
HP:0004979HP:0004979Metaphyseal sclerosis0SBDS CL E G H5111919440OMIM:260400Shwachman-Diamond syndrome 126
HP:0004979HP:0004979Metaphyseal sclerosis0SRP54 CL E G H672911301OMIM:260400Shwachman-Diamond syndrome 1
HP:0004979HP:0011860Metaphyseal dappling1COL2A1 CL E G H12802200OMIM:184250Spondyloepimetaphyseal dysplasia, Strudwick type.284
HP:0004979HP:0005092Streaky metaphyseal sclerosis1KIF22 CL E G H38356391OMIM:603546Spondyloepimetaphyseal dysplasia with joint laxity, type 2.14


Genes (12) :ACP5 ANAPC1 CENPE COL10A1 COL2A1 CTC1 DNAJC21 KIF22 MMP13 RECQL4 SBDS SRP54

Diseases (10) :OMIM:607944 ORPHA:221008 OMIM:616051 OMIM:156500 OMIM:184250 OMIM:612199 OMIM:260400 OMIM:603546 OMIM:250400 ORPHA:221016
 

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