Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the metacarpal bones (HP:0001163)help
Grandparent Node:
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obsolete Abnormal morphology of bones of the upper limbs (HP:0040065)help
Parent Node:
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Abnormal metacarpal morphology (HP:0005916)help
..Starting node
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Proximal tapering of metacarpals (HP:0006119)help
Term ID: 6119
Name: Proximal tapering of metacarpals
Synonym: Pointed innermost long bone of hand; Pointed proximal metacarpals
Definition: Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance.
Comments:
Reference: HP:0006119
Genes and Diseases:
 
       Child Nodes:
........expandPointed proximal second through fifth metacarpals (HP:0001223) help

 Sister Nodes: 
..expandAplasia/Hypoplasia involving the metacarpal bones (HP:0005914) help
..expandArchibald's sign (HP:0031809) help
..expandBroad metacarpals (HP:0001230) help
..expandDistal widening of metacarpals (HP:0006048) help
..expandExpanded metacarpals with widened medullary cavities (HP:0006232) help
..expandFlattened metacarpal heads (HP:0011909) help
..expandIrregular metacarpals (HP:0006160) help
..expandLong metacarpals (HP:0010493) help
..expandMetacarpal diaphyseal endosteal sclerosis (HP:0006174) help
..expandMetacarpal synostosis (HP:0009701) help
..expandSlender metacarpals (HP:0006236) help
..expandTapered metacarpals (HP:0006108) help
..expandThin metacarpal cortices (HP:0006086) help
..expandTubular metacarpal bones (HP:0006166) help
..expandWidened metacarpal shaft (HP:0006012) help
..expandY-shaped metacarpals (HP:0006042) 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:0006119HP:0006119Proximal tapering of metacarpals0GALNS CL E G H25884122OMIM:253000Morquio syndrome A123
HP:0006119HP:0006119Proximal tapering of metacarpals0GLB1 CL E G H27204298OMIM:253010Mucopolysaccharidosis type IVB (Morquio)120
HP:0006119HP:0006119Proximal tapering of metacarpals0GUSB CL E G H29904696OMIM:253220Mucopolysaccharidosis, type VII.54
HP:0006119HP:0001223Pointed proximal second through fifth metacarpals1GALNS CL E G H25884122OMIM:253000Morquio syndrome A.123
HP:0006119HP:0001223Pointed proximal second through fifth metacarpals1GLB1 CL E G H27204298OMIM:253010Mucopolysaccharidosis type IVB (Morquio).120


Genes (3) :GALNS GLB1 GUSB

Diseases (3) :OMIM:253000 OMIM:253010 OMIM:253220
 

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