Human Phenotype Ontology 
Grandparent Node:
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Abnormal long bone morphology (HP:0011314)help
Grandparent Node:
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Abnormality of limb bone morphology (HP:0002813)help
Parent Node:
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Abnormal metaphysis morphology (HP:0000944)help
..Starting node
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Metaphyseal cupping (HP:0003021)help
Term ID: 3021
Name: Metaphyseal cupping
Synonym:
Definition: Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance.
Comments:
Reference: HP:0003021
Genes and Diseases:
 
       Child Nodes:
........expandCupped metaphyses of the upper limbs (HP:0003848) help
................... HP:0004016 Cupped radial metaphyses
........expandMetaphyseal cupping of metacarpals (HP:0006028) help
........expandMetaphyseal cupping of proximal phalanges (HP:0006208) 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 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 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:0003021HP:0003021Metaphyseal cupping0AIFM1 CL E G H91318768OMIM:300232Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration60
HP:0003021HP:0003021Metaphyseal cupping0ALPL CL E G H249438OMIM:241500Hypophosphatasia, infantile.126
HP:0003021HP:0003021Metaphyseal cupping0COL10A1 CL E G H13002185OMIM:156500Metaphyseal chondrodysplasia, Schmid type79
HP:0003021HP:0003021Metaphyseal cupping0COL10A1 CL E G H13002185ORPHA:174Metaphyseal chondrodysplasia, Schmid typeHP:0040281 - Very frequent79
HP:0003021HP:0003021Metaphyseal cupping0COL11A2 CL E G H13022187OMIM:614524Fibrochondrogenesis 2.222
HP:0003021HP:0003021Metaphyseal cupping0COL2A1 CL E G H12802200ORPHA:85166Platyspondylic dysplasia, Torrance typeHP:0040281 - Very frequent284
HP:0003021HP:0003021Metaphyseal cupping0COL2A1 CL E G H12802200OMIM:151210Platyspondylic lethal skeletal dysplasia, Torrance type.284
HP:0003021HP:0003021Metaphyseal cupping0CYP3A4 CL E G H15762637OMIM:619073VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR32
HP:0003021HP:0003021Metaphyseal cupping0GPX4 CL E G H28794556OMIM:250220Spondylometaphyseal dysplasia, Sedaghatian type.3
HP:0003021HP:0003021Metaphyseal cupping0HDAC6 CL E G H1001314064OMIM:300863Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia.2
HP:0003021HP:0003021Metaphyseal cupping0HDAC6 CL E G H1001314064ORPHA:163966X-linked dominant chondrodysplasia, Chassaing-Lacombe type2
HP:0003021HP:0003021Metaphyseal cupping0IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0003021HP:0003021Metaphyseal cupping0INPPL1 CL E G H36366080OMIM:258480OPSISMODYSPLASIA.18
HP:0003021HP:0003021Metaphyseal cupping0LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0003021HP:0003021Metaphyseal cupping0LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0003021HP:0003021Metaphyseal cupping0MMP13 CL E G H43227159OMIM:602111Spondyloepimetaphyseal dysplasia, Missouri type.52
HP:0003021HP:0003021Metaphyseal cupping0NEPRO CL E G H2587124496OMIM:618853ANAUXETIC DYSPLASIA 3; ANXD3
HP:0003021HP:0003021Metaphyseal cupping0PAM16 CL E G H5102529679OMIM:613320Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type.1
HP:0003021HP:0003021Metaphyseal cupping0PCYT1A CL E G H51308754OMIM:608940Spondylometaphyseal dysplasia with cone-rod dystrophy.11
HP:0003021HP:0003021Metaphyseal cupping0PEX5 CL E G H58309719OMIM:616716RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP599
HP:0003021HP:0003021Metaphyseal cupping0PTH1R CL E G H57459608ORPHA:50945Blomstrand lethal chondrodysplasiaHP:0040281 - Very frequent58
HP:0003021HP:0003021Metaphyseal cupping0PTH1R CL E G H57459608OMIM:156400Metaphyseal chondrodysplasia, Jansen type.58
HP:0003021HP:0003021Metaphyseal cupping0RMRP CL E G H602310031OMIM:250250Cartilage-Hair hypoplasia37
HP:0003021HP:0003021Metaphyseal cupping0RMRP CL E G H602310031OMIM:250460Metaphyseal dysplasia without hypotrichosis37
HP:0003021HP:0003021Metaphyseal cupping0TRIP11 CL E G H932112305OMIM:184260Osteochondrodysplasia.133
HP:0003021HP:0003848Cupped metaphyses of the upper limbs1 CL E G H
HP:0003021HP:0006028Metaphyseal cupping of metacarpals1AIFM1 CL E G H91318768OMIM:300232Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration.60
HP:0003021HP:0006028Metaphyseal cupping of metacarpals1COL10A1 CL E G H13002185OMIM:156500Metaphyseal chondrodysplasia, Schmid type.79
HP:0003021HP:0006208Metaphyseal cupping of proximal phalanges1COL10A1 CL E G H13002185ORPHA:174Metaphyseal chondrodysplasia, Schmid typeHP:0040282 - Frequent79
HP:0003021HP:0006208Metaphyseal cupping of proximal phalanges1COL10A1 CL E G H13002185OMIM:156500Metaphyseal chondrodysplasia, Schmid type.79
HP:0003021HP:0006028Metaphyseal cupping of metacarpals1COL10A1 CL E G H13002185ORPHA:174Metaphyseal chondrodysplasia, Schmid typeHP:0040282 - Frequent79
HP:0003021HP:0006208Metaphyseal cupping of proximal phalanges1HDAC6 CL E G H1001314064OMIM:300863Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia.2
HP:0003021HP:0006028Metaphyseal cupping of metacarpals1HDAC6 CL E G H1001314064OMIM:300863Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia.2
HP:0003021HP:0006028Metaphyseal cupping of metacarpals1HDAC6 CL E G H1001314064ORPHA:163966X-linked dominant chondrodysplasia, Chassaing-Lacombe typeHP:0040281 - Very frequent2
HP:0003021HP:0006028Metaphyseal cupping of metacarpals1RMRP CL E G H602310031OMIM:250460Metaphyseal dysplasia without hypotrichosis.37
HP:0003021HP:0004016Cupped radial metaphyses2 CL E G H


Genes (19) :AIFM1 ALPL COL10A1 COL11A2 COL2A1 CYP3A4 GPX4 HDAC6 IDH1 INPPL1 LBR MMP13 NEPRO PAM16 PCYT1A PEX5 PTH1R RMRP TRIP11

Diseases (25) :OMIM:300232 OMIM:241500 OMIM:156500 ORPHA:174 OMIM:614524 ORPHA:85166 OMIM:151210 OMIM:619073 OMIM:250220 OMIM:300863 ORPHA:163966 ORPHA:99646 OMIM:258480 OMIM:215140 OMIM:618019 OMIM:602111 OMIM:618853 OMIM:613320 OMIM:608940 OMIM:616716 ORPHA:50945 OMIM:156400 OMIM:250250 OMIM:250460 OMIM:184260
 

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