Human Phenotype Ontology 
Grandparent Node:
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Abnormal long bone morphology (HP:0011314)help
Parent Node:
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Abnormality of the hand (HP:0001155)help
Parent Node:
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Short long bone (HP:0003026)help
..Starting node
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Short tubular bones of the hand (HP:0001248)help
Term ID: 1248
Name: Short tubular bones of the hand
Synonym: Shortened short tubular bones of the hand
Definition: Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals.
Comments:
Reference: HP:0001248
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandFibular hypoplasia (HP:0003038) help
..expandForearm undergrowth (HP:0009821) help
..expandShort femur (HP:0003097) help
..expandShort humerus (HP:0005792) help
..expandShort metatarsal (HP:0010743) help
..expandShort tibia (HP:0005736) 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:0001248HP:0001248Short tubular bones of the hand0COL10A1 CL E G H13002185ORPHA:174Metaphyseal chondrodysplasia, Schmid typeHP:0040282 - Frequent79
HP:0001248HP:0001248Short tubular bones of the hand0COL2A1 CL E G H12802200OMIM:200610Achondrogenesis, type II.284
HP:0001248HP:0001248Short tubular bones of the hand0FLNB CL E G H23173755ORPHA:56305Atelosteogenesis type IIIHP:0040282 - Frequent233
HP:0001248HP:0001248Short tubular bones of the hand0TRPV4 CL E G H5934118083ORPHA:93314Spondylometaphyseal dysplasia, Kozlowski typeHP:0040282 - Frequent214


Genes (4) :COL10A1 COL2A1 FLNB TRPV4

Diseases (4) :ORPHA:174 OMIM:200610 ORPHA:56305 ORPHA:93314
 

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