Human Phenotype Ontology 
Grandparent Node:
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Abnormal upper limb bone morphology (HP:0040070)help
Grandparent Node:
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Abnormality of the hand (HP:0001155)help
Parent Node:
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Abnormality of the metacarpal bones (HP:0001163)help
..Starting node
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Abnormal 5th metacarpal morphology (HP:0010013)help
Term ID: 10013
Name: Abnormal 5th metacarpal morphology
Synonym: Abnormality of the 5th long bone of hand; Abnormality of the 5th metacarpal
Definition: Any abnormality of the fifth metacarpal bone.
Comments:
Reference: HP:0010013
Genes and Diseases:
 
       Child Nodes:
........expandFifth metacarpal with ulnar notch (HP:0005900) help
........expandSynostosis involving the 5th metacarpal (HP:0009708) help
................... HP:0009234 Symphalangism of the proximal phalanx of the 5th finger with the 5th metatcarpal
........expandAplasia/Hypoplasia of the 5th metacarpal (HP:0010045) help
................... HP:0010046 Aplasia of the 5th metacarpal
................... HP:0010047 Short 5th metacarpal
........expandAbnormality of the epiphysis of the 5th metacarpal (HP:0010226) help
................... HP:0010227 Pseudoepiphysis of the 5th metacarpal

 Sister Nodes: 
..expandAbnormal 1st metacarpal morphology (HP:0010009) help
..expandAbnormal 2nd metacarpal morphology (HP:0010010) help
..expandAbnormal 3rd metacarpal morphology (HP:0010011) help
..expandAbnormal 4th metacarpal morphology (HP:0010012) help
..expandAbnormal metacarpal epiphysis morphology (HP:0005913) help
..expandAbnormal metacarpal morphology (HP:0005916) help
..expandAbnormal metacarpophalangeal joint morphology (HP:0011911) help
..expandMetacarpal osteolysis (HP:0001504) help
..expandMetacarpal periosteal thickening (HP:0006051) help
..expandSupernumerary metacarpal bones (HP:0005917) 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:0010013HP:0010013Abnormal 5th metacarpal morphology0BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies13
HP:0010013HP:0010013Abnormal 5th metacarpal morphology0COL11A2 CL E G H13022187OMIM:215150Otospondylomegaepiphyseal dysplasia222
HP:0010013HP:0010013Abnormal 5th metacarpal morphology0CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional57
HP:0010013HP:0010013Abnormal 5th metacarpal morphology0EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies4
HP:0010013HP:0010013Abnormal 5th metacarpal morphology0FBN1 CL E G H22003603OMIM:102370Acromicric dysplasia1361
HP:0010013HP:0010013Abnormal 5th metacarpal morphology0FBN1 CL E G H22003603ORPHA:969Acromicric dysplasia1361
HP:0010013HP:0010013Abnormal 5th metacarpal morphology0FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosa136
HP:0010013HP:0010013Abnormal 5th metacarpal morphology0FGF16 CL E G H88233672OMIM:309630Metacarpal 4-5 fusion3
HP:0010013HP:0010013Abnormal 5th metacarpal morphology0FLNA CL E G H23163754OMIM:311300Otopalatodigital syndrome, type I493
HP:0010013HP:0010013Abnormal 5th metacarpal morphology0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:0010013HP:0010013Abnormal 5th metacarpal morphology0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1C101
HP:0010013HP:0010013Abnormal 5th metacarpal morphology0GNAS CL E G H27784392ORPHA:79445Pseudopseudohypoparathyroidism101
HP:0010013HP:0010013Abnormal 5th metacarpal morphology0HOXD13 CL E G H32395136ORPHA:93409Brachydactyly-syndactyly, Zhao type25
HP:0010013HP:0010013Abnormal 5th metacarpal morphology0HOXD13 CL E G H32395136OMIM:186300Syndactyly, type V25
HP:0010013HP:0010013Abnormal 5th metacarpal morphology0KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional24
HP:0010013HP:0010013Abnormal 5th metacarpal morphology0LBR CL E G H39306518OMIM:169400Pelger-Huet anomaly70
HP:0010013HP:0010013Abnormal 5th metacarpal morphology0LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0010013HP:0010013Abnormal 5th metacarpal morphology0LTBP3 CL E G H40546716ORPHA:969Acromicric dysplasia12
HP:0010013HP:0010013Abnormal 5th metacarpal morphology0NOG CL E G H92417866OMIM:185800Symphalangism, proximal, 1A22
HP:0010013HP:0010013Abnormal 5th metacarpal morphology0PRKG2 CL E G H55939416OMIM:619638SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0010013HP:0010013Abnormal 5th metacarpal morphology0RUNX2 CL E G H86010472OMIM:156510Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly90
HP:0010013HP:0010013Abnormal 5th metacarpal morphology0SMOC1 CL E G H6409320318OMIM:206920Microphthalmia with limb anomalies15
HP:0010013HP:0010013Abnormal 5th metacarpal morphology0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0010013HP:0010013Abnormal 5th metacarpal morphology0SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0010013HP:0010013Abnormal 5th metacarpal morphology0TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome100
HP:0010013HP:0010226Abnormality of the epiphysis of the 5th metacarpal1 CL E G H
HP:0010013HP:0010045Aplasia/Hypoplasia of the 5th metacarpal1BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies13
HP:0010013HP:0010045Aplasia/Hypoplasia of the 5th metacarpal1COL11A2 CL E G H13022187OMIM:215150Otospondylomegaepiphyseal dysplasia222
HP:0010013HP:0009708Synostosis involving the 5th metacarpal1EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies4
HP:0010013HP:0005900Fifth metacarpal with ulnar notch1FBN1 CL E G H22003603ORPHA:969Acromicric dysplasiaHP:0040283 - Occasional1361
HP:0010013HP:0005900Fifth metacarpal with ulnar notch1FBN1 CL E G H22003603OMIM:102370Acromicric dysplasia.1361
HP:0010013HP:0010045Aplasia/Hypoplasia of the 5th metacarpal1FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosa136
HP:0010013HP:0010045Aplasia/Hypoplasia of the 5th metacarpal1FGF16 CL E G H88233672OMIM:309630Metacarpal 4-5 fusion3
HP:0010013HP:0009708Synostosis involving the 5th metacarpal1FGF16 CL E G H88233672OMIM:309630Metacarpal 4-5 fusion3
HP:0010013HP:0010045Aplasia/Hypoplasia of the 5th metacarpal1FLNA CL E G H23163754OMIM:311300Otopalatodigital syndrome, type I493
HP:0010013HP:0010045Aplasia/Hypoplasia of the 5th metacarpal1GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:0010013HP:0010045Aplasia/Hypoplasia of the 5th metacarpal1GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1C101
HP:0010013HP:0010045Aplasia/Hypoplasia of the 5th metacarpal1GNAS CL E G H27784392ORPHA:79445Pseudopseudohypoparathyroidism101
HP:0010013HP:0010045Aplasia/Hypoplasia of the 5th metacarpal1HOXD13 CL E G H32395136ORPHA:93409Brachydactyly-syndactyly, Zhao type25
HP:0010013HP:0009708Synostosis involving the 5th metacarpal1HOXD13 CL E G H32395136OMIM:186300Syndactyly, type V25
HP:0010013HP:0010045Aplasia/Hypoplasia of the 5th metacarpal1LBR CL E G H39306518OMIM:169400Pelger-Huet anomaly70
HP:0010013HP:0010045Aplasia/Hypoplasia of the 5th metacarpal1LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0010013HP:0005900Fifth metacarpal with ulnar notch1LTBP3 CL E G H40546716ORPHA:969Acromicric dysplasiaHP:0040283 - Occasional12
HP:0010013HP:0010045Aplasia/Hypoplasia of the 5th metacarpal1NOG CL E G H92417866OMIM:185800Symphalangism, proximal, 1A22
HP:0010013HP:0010045Aplasia/Hypoplasia of the 5th metacarpal1PRKG2 CL E G H55939416OMIM:619638SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0010013HP:0010045Aplasia/Hypoplasia of the 5th metacarpal1RUNX2 CL E G H86010472OMIM:156510Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly90
HP:0010013HP:0009708Synostosis involving the 5th metacarpal1SMOC1 CL E G H6409320318OMIM:206920Microphthalmia with limb anomalies15
HP:0010013HP:0010045Aplasia/Hypoplasia of the 5th metacarpal1SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0010013HP:0010045Aplasia/Hypoplasia of the 5th metacarpal1SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0010013HP:0010045Aplasia/Hypoplasia of the 5th metacarpal1TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome100
HP:0010013HP:0009234Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal2 CL E G H
HP:0010013HP:0041121Fractured epiphysis of fifth metacarpal bone2 CL E G H
HP:0010013HP:0010227Pseudoepiphysis of the 5th metacarpal2 CL E G H
HP:0010013HP:0010047Short 5th metacarpal2BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies.13
HP:0010013HP:0010047Short 5th metacarpal2COL11A2 CL E G H13022187OMIM:215150Otospondylomegaepiphyseal dysplasia222
HP:0010013HP:00058674-5 metacarpal synostosis2EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies4
HP:0010013HP:0010047Short 5th metacarpal2FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosaHP:0040283 - Occasional136
HP:0010013HP:0010047Short 5th metacarpal2FGF16 CL E G H88233672OMIM:309630Metacarpal 4-5 fusion3
HP:0010013HP:00058674-5 metacarpal synostosis2FGF16 CL E G H88233672OMIM:309630Metacarpal 4-5 fusion3
HP:0010013HP:0010047Short 5th metacarpal2FLNA CL E G H23163754OMIM:311300Otopalatodigital syndrome, type I.493
HP:0010013HP:0010047Short 5th metacarpal2GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040282 - Frequent101
HP:0010013HP:0010047Short 5th metacarpal2GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040282 - Frequent101
HP:0010013HP:0010047Short 5th metacarpal2GNAS CL E G H27784392ORPHA:79445PseudopseudohypoparathyroidismHP:0040282 - Frequent101
HP:0010013HP:0010047Short 5th metacarpal2HOXD13 CL E G H32395136ORPHA:93409Brachydactyly-syndactyly, Zhao typeHP:0040281 - Very frequent25
HP:0010013HP:00058674-5 metacarpal synostosis2HOXD13 CL E G H32395136OMIM:186300Syndactyly, type V25
HP:0010013HP:0010047Short 5th metacarpal2LBR CL E G H39306518OMIM:169400Pelger-Huet anomaly70
HP:0010013HP:0010047Short 5th metacarpal2LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0010013HP:0010047Short 5th metacarpal2NOG CL E G H92417866OMIM:185800Symphalangism, proximal, 1A.22
HP:0010013HP:0010047Short 5th metacarpal2PRKG2 CL E G H55939416OMIM:619638SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0010013HP:0010047Short 5th metacarpal2RUNX2 CL E G H86010472OMIM:156510Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly.90
HP:0010013HP:00058674-5 metacarpal synostosis2SMOC1 CL E G H6409320318OMIM:206920Microphthalmia with limb anomalies15
HP:0010013HP:0010047Short 5th metacarpal2SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0010013HP:0010047Short 5th metacarpal2SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0010013HP:0010046Aplasia of the 5th metacarpal2TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome100


Genes (20) :BMP2 COL11A2 CSPP1 EIF4A3 FBN1 FERMT1 FGF16 FLNA GNAS HOXD13 KIAA0586 LBR LTBP3 NOG PRKG2 RUNX2 SMOC1 SRCAP SVBP TBX3

Diseases (23) :OMIM:617877 OMIM:215150 ORPHA:397715 OMIM:268305 OMIM:102370 ORPHA:969 ORPHA:2908 OMIM:309630 OMIM:311300 ORPHA:79443 ORPHA:79444 ORPHA:79445 ORPHA:93409 OMIM:186300 OMIM:169400 OMIM:618019 OMIM:185800 OMIM:619638 OMIM:156510 OMIM:206920 OMIM:136140 OMIM:618569 OMIM:181450
 

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