Human Phenotype Ontology 
Grandparent Node:
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Abnormal appendicular skeleton morphology (HP:0011844)help
Grandparent Node:
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Abnormality of limb bone (HP:0040068)help
Parent Node:
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Abnormal upper limb bone morphology (HP:0040070)help
Parent Node:
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Abnormality of limb bone morphology (HP:0002813)help
..Starting node
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obsolete Abnormal morphology of bones of the upper limbs (HP:0040065)help
Term ID: 40065
Name: obsolete Abnormal morphology of bones of the upper limbs
Synonym:
Definition:
Comments:
Reference: HP:0040065
Genes and Diseases:
 
       Child Nodes:
........expandCortical thickening of the forearm bones (HP:0003957) help
........expandAbnormal metacarpal morphology (HP:0005916) help
................... HP:0001230 Broad metacarpals
................... HP:0005914 Aplasia/Hypoplasia involving the metacarpal bones
................... HP:0006012 Widened metacarpal shaft
................... HP:0006042 Y-shaped metacarpals
................... HP:0006048 Distal widening of metacarpals
................... HP:0006086 Thin metacarpal cortices
................... HP:0006108 Tapered metacarpals
................... HP:0006119 Proximal tapering of metacarpals
................... HP:0006160 Irregular metacarpals
................... HP:0006166 Tubular metacarpal bones
................... HP:0006174 Metacarpal diaphyseal endosteal sclerosis
................... HP:0006232 Expanded metacarpals with widened medullary cavities
................... HP:0006236 Slender metacarpals
................... HP:0009701 Metacarpal synostosis
................... HP:0010493 Long metacarpals
................... HP:0011909 Flattened metacarpal heads
................... HP:0031809 Archibald's sign
........expandBroad phalanges of the hand (HP:0009768) help
................... HP:0006112 Expanded phalanges with widened medullary cavities
................... HP:0009374 Broad phalanges of the 5th finger
................... HP:0009404 Broad phalanges of the 4th finger
................... HP:0009440 Broad phalanges of the 3rd finger
................... HP:0009547 Broad phalanges of the 2nd finger
................... HP:0009836 Broad distal phalanx of finger
................... HP:0009844 Broad middle phalanx of finger
................... HP:0009852 Broad proximal phalanges of the hand
................... HP:0011304 Broad thumb
........expandForearm undergrowth (HP:0009821) help
................... HP:0002984 Hypoplasia of the radius
................... HP:0003022 Hypoplasia of the ulna
................... HP:0005773 Short forearm
........expandAbnormal humerus morphology (HP:0031095) help
................... HP:0003863 Angulated humerus
................... HP:0003864 Bifid humerus
................... HP:0003865 Bowed humerus
................... HP:0003866 Coarse humeral trabeculae
................... HP:0003870 Crumpled humerus
................... HP:0003871 Deformed humerus
................... HP:0003872 Humeral exostoses
................... HP:0003874 Humerus varus
................... HP:0003875 Humeral lytic defects
................... HP:0003877 Oval transradiancy of humerus
................... HP:0003879 Humeral pseudarthrosis
................... HP:0003882 Slender humerus
................... HP:0003883 Tapered humerus
................... HP:0003885 Undermodeled humerus
................... HP:0003886 Wide humerus
................... HP:0003887 Abnormality of the humeral heads
................... HP:0003926 Abnormality of the humeral diaphysis
................... HP:0006441 Lateral humeral condyle aplasia
................... HP:0010629 Abnormal morphology of the cortex of the humerus
........expandAbnormal forearm bone morphology (HP:0040073) help
................... HP:0003954 Angulated forearm bones
................... HP:0003956 Bowed forearm bones
................... HP:0003959 Deformed forearm bones
................... HP:0003961 Fractured forearm bones
................... HP:0003969 Slender forearm bones
................... HP:0003971 Broad forearm bones
................... HP:0006370 Distal ulnar epiphyseal stippling
................... HP:0040071 Abnormal morphology of ulna
................... HP:0045009 Abnormal morphology of the radius

 Sister Nodes: 
..expandAbnormal digit morphology (HP:0011297) help
..expandAbnormal limb epiphysis morphology (HP:0006505) help
..expandAbnormal metaphysis morphology (HP:0000944) help
..expandAbnormal radial ray morphology (HP:0410049) help
..expandAbsent ray (HP:0030030) help
..expandAcromicria (HP:0031878) help
..expandAplasia/hypoplasia involving bones of the extremities (HP:0045060) help
..expandEctrodactyly (HP:0100257) help
..expandLimb duplication (HP:0100524) help
..expandobsolete Abnormal morphology of bones of the lower limbs (HP:0040066) help
..expandobsolete Anomaly of the limb diaphyses morphology (HP:0006504) help
..expandSubperiosteal bone resorption (HP:0003106) 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:0040065HP:0040065obsolete Abnormal morphology of bones of the upper limbs0 CL E G H


Genes (0) :

Diseases (0) :
 

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