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 2nd metacarpal morphology (HP:0010010)help
Term ID: 10010
Name: Abnormal 2nd metacarpal morphology
Synonym: Abnormality of the 2nd long bone of hand; Abnormality of the 2nd metacarpal
Definition: Any abnormality of the second metacarpal bone.
Comments:
Reference: HP:0010010
Genes and Diseases:
 
       Child Nodes:
........expandSynostosis involving the 2nd metacarpal (HP:0009705) help
................... HP:0004293 Synostosis of second metacarpal-trapezoid
................... HP:0009598 Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metatcarpal
........expandAplasia/Hypoplasia of the 2nd metacarpal (HP:0010036) help
................... HP:0006040 Long second metacarpal
................... HP:0010037 Aplasia of the 2nd metacarpal
................... HP:0010038 Short 2nd metacarpal
........expandAbnormality of the epiphysis of the 2nd metacarpal (HP:0010220) help
................... HP:0010221 Pseudoepiphysis of the 2nd metacarpal

 Sister Nodes: 
..expandAbnormal 1st metacarpal morphology (HP:0010009) help
..expandAbnormal 3rd metacarpal morphology (HP:0010011) help
..expandAbnormal 4th metacarpal morphology (HP:0010012) help
..expandAbnormal 5th metacarpal morphology (HP:0010013) 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:0010010HP:0010010Abnormal 2nd metacarpal morphology0BMP2 CL E G H6501069ORPHA:93396Brachydactyly type A213
HP:0010010HP:0010010Abnormal 2nd metacarpal morphology0BMPR1B CL E G H6581077ORPHA:93396Brachydactyly type A290
HP:0010010HP:0010010Abnormal 2nd metacarpal morphology0GDF5 CL E G H82004220ORPHA:93396Brachydactyly type A252
HP:0010010HP:0010010Abnormal 2nd metacarpal morphology0GLI3 CL E G H27374319ORPHA:93322Tibial hemimelia270
HP:0010010HP:0010010Abnormal 2nd metacarpal morphology0RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia90
HP:0010010HP:0010010Abnormal 2nd metacarpal morphology0SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1124
HP:0010010HP:0009705Synostosis involving the 2nd metacarpal1 CL E G H
HP:0010010HP:0010036Aplasia/Hypoplasia of the 2nd metacarpal1BMP2 CL E G H6501069ORPHA:93396Brachydactyly type A213
HP:0010010HP:0010036Aplasia/Hypoplasia of the 2nd metacarpal1BMPR1B CL E G H6581077ORPHA:93396Brachydactyly type A290
HP:0010010HP:0010036Aplasia/Hypoplasia of the 2nd metacarpal1GDF5 CL E G H82004220ORPHA:93396Brachydactyly type A252
HP:0010010HP:0010036Aplasia/Hypoplasia of the 2nd metacarpal1GLI3 CL E G H27374319ORPHA:93322Tibial hemimelia270
HP:0010010HP:0010036Aplasia/Hypoplasia of the 2nd metacarpal1RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia90
HP:0010010HP:0010220Abnormality of the epiphysis of the 2nd metacarpal1SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1124
HP:0010010HP:0009598Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal2 CL E G H
HP:0010010HP:0004293Synostosis of second metacarpal-trapezoid2 CL E G H
HP:0010010HP:0041190Fractured epiphysis of second metacarpal bone2 CL E G H
HP:0010010HP:0010038Short 2nd metacarpal2BMP2 CL E G H6501069ORPHA:93396Brachydactyly type A2HP:0040283 - Occasional13
HP:0010010HP:0010038Short 2nd metacarpal2BMPR1B CL E G H6581077ORPHA:93396Brachydactyly type A2HP:0040283 - Occasional90
HP:0010010HP:0010038Short 2nd metacarpal2GDF5 CL E G H82004220ORPHA:93396Brachydactyly type A2HP:0040283 - Occasional52
HP:0010010HP:0010037Aplasia of the 2nd metacarpal2GLI3 CL E G H27374319ORPHA:93322Tibial hemimeliaHP:0040283 - Occasional270
HP:0010010HP:0006040Long second metacarpal2RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia.90
HP:0010010HP:0006179Pseudoepiphyses of second metacarpal2SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1.124


Genes (6) :BMP2 BMPR1B GDF5 GLI3 RUNX2 SALL1

Diseases (4) :ORPHA:93396 ORPHA:93322 OMIM:119600 OMIM:107480
 

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