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 spurs (HP:0005054)help
Term ID: 5054
Name: Metaphyseal spurs
Synonym:
Definition: Bony outgrowths that extend laterally from the margin of the metaphysis.
Comments:
Reference: HP:0005054
Genes and Diseases:
 
       Child Nodes:
........expandSpurred metaphyses of the upper limbs (HP:0003855) help
................... HP:0004046 Spurred ulnar metaphysis

 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 sclerosis (HP:0004979) 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:0005054HP:0005054Metaphyseal spurs0ATP7A CL E G H538869OMIM:309400Menkes disease.192
HP:0005054HP:0005054Metaphyseal spurs0COL2A1 CL E G H12802200ORPHA:166011Multiple epiphyseal dysplasia, Beighton typeHP:0040282 - Frequent284
HP:0005054HP:0005054Metaphyseal spurs0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0005054HP:0005054Metaphyseal spurs0DYNC2H1 CL E G H796592962OMIM:613091Asphyxiating thoracic dystrophy 3.304
HP:0005054HP:0005054Metaphyseal spurs0MATN3 CL E G H41486909OMIM:608728Spondyloepimetaphyseal dysplasia, matrilin-3 related.32
HP:0005054HP:0005054Metaphyseal spurs0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0005054HP:0005054Metaphyseal spurs0PCYT1A CL E G H51308754ORPHA:85167Spondylometaphyseal dysplasia-cone-rod dystrophy syndromeHP:0040281 - Very frequent11
HP:0005054HP:0005054Metaphyseal spurs0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0005054HP:0005054Metaphyseal spurs0TRAPPC2 CL E G H639923068ORPHA:93284Spondyloepiphyseal dysplasia tarda46
HP:0005054HP:0003855Spurred metaphyses of the upper limbs1TRAPPC2 CL E G H639923068ORPHA:93284Spondyloepiphyseal dysplasia tardaHP:0040282 - Frequent46
HP:0005054HP:0004046Spurred ulnar metaphysis2 CL E G H


Genes (9) :ATP7A COL2A1 DLK1 DYNC2H1 MATN3 MEG3 PCYT1A RTL1 TRAPPC2

Diseases (7) :OMIM:309400 ORPHA:166011 ORPHA:96334 OMIM:613091 OMIM:608728 ORPHA:85167 ORPHA:93284
 

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