Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the upper limb (HP:0002817)help
Parent Node:
expand
Abnormal upper limb metaphysis morphology (HP:0009809)help
Parent Node:
expand
Abnormality of the hand (HP:0001155)help
..Starting node
..expand
Abnormal hand metaphysis morphology (HP:0005923)help
Term ID: 5923
Name: Abnormal hand metaphysis morphology
Synonym: Abnormalities of the metaphyses of the hand; Abnormality of the wide portion of the hand bone
Definition:
Comments:
Reference: HP:0005923
Genes and Diseases:
 
       Child Nodes:
........expandCupped metaphyses of hand bones (HP:0004273) help

 Sister Nodes: 
..expandAbnormal carpal morphology (HP:0001191) help
..expandAbnormal hand bone ossification (HP:0010660) help
..expandAbnormal hand cortical bone morphology (HP:0005926) help
..expandAbnormal hand diaphysis morphology (HP:0005925) help
..expandAbnormal hand epiphysis morphology (HP:0005924) help
..expandAbnormal hand morphology (HP:0005922) help
..expandAbnormal palm morphology (HP:0100871) help
..expandAbnormality of dorsoventral patterning of the limbs (HP:0100270) help
..expandAbnormality of finger (HP:0001167) help
..expandAbnormality of hand joint mobility (HP:0006256) help
..expandAbnormality of the metacarpal bones (HP:0001163) help
..expandAbnormality of the musculature of the hand (HP:0001421) help
..expandAplasia/hypoplasia involving bones of the hand (HP:0005927) help
..expandAutoamputation of digits (HP:0007460) help
..expandDecreased finger mobility (HP:0006135) help
..expandDeviation of the hand or of fingers of the hand (HP:0009484) help
..expandDuplication of hand bones (HP:0004275) help
..expandExostoses of hand bones (HP:0004276) help
..expandFractured hand bones (HP:0004277) help
..expandJoint contracture of the hand (HP:0009473) help
..expandOsteolytic defects of the hand bones (HP:0009699) help
..expandShort tubular bones of the hand (HP:0001248) help
..expandSplit hand (HP:0001171) help
..expandSynostosis involving bones of the hand (HP:0004278) help
..expandUlnar claw (HP:0001178) 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:0005923HP:0005923Abnormal hand metaphysis morphology0COL10A1 CL E G H13002185ORPHA:174Metaphyseal chondrodysplasia, Schmid typeHP:0040282 - Frequent79
HP:0005923HP:0005923Abnormal hand metaphysis morphology0COL2A1 CL E G H12802200ORPHA:166011Multiple epiphyseal dysplasia, Beighton typeHP:0040283 - Occasional284
HP:0005923HP:0004273Cupped metaphyses of hand bones1 CL E G H


Genes (2) :COL10A1 COL2A1

Diseases (2) :ORPHA:174 ORPHA:166011
 

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