Human Phenotype Ontology 
Grandparent Node:
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Synostosis of joints (HP:0100240)help
Parent Node:
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Synostosis involving digits (HP:0100262)help
..Starting node
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Distal symphalangism (HP:0100263)help
Term ID: 100263
Name: Distal symphalangism
Synonym:
Definition:
Comments:
Reference: HP:0100263
Genes and Diseases:
 
       Child Nodes:
........expandDistal symphalangism of hands (HP:0001204) help
................... HP:0009244 Distal/middle symphalangism of 5th finger
................... HP:0009305 Distal/middle symphalangism of 4th finger
................... HP:0009426 Distal/middle symphalangism of 3rd finger
................... HP:0009563 Distal/middle symphalangism of 2nd finger
................... HP:0009656 Symphalangism of the thumb
........expandDistal foot symphalangism (HP:0001859) help
................... HP:0010082 Symphalangism affecting the distal phalanx of the hallux
................... HP:0010419 Symphalangism affecting the distal phalanx of the 2nd toe
................... HP:0100476 Symphalangism affecting the distal phalanx of the 3rd toe
................... HP:0100477 Symphalangism affecting the distal phalanx of the 4th toe
................... HP:0100478 Symphalangism affecting the distal phalanx of the 5th toe

 Sister Nodes: 
..expandFinger symphalangism (HP:0009700) help
..expandProximal symphalangism (HP:0100264) help
..expandSynostosis involving bones of the toes (HP:0100235) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100263HP:0100263Distal symphalangism0PCNT CL E G H5116210720Microcephalic osteodysplastic primordial dwarfism type 2210720C0432246OMIM08888516068605925
HP:0100263HP:0100263Distal symphalangism1PCNT CL E G H5116210720Microcephalic osteodysplastic primordial dwarfism type 2210720C0432246OMIM08888516068605925
HP:0100263HP:0100263Distal symphalangism2PCNT CL E G H5116210720Microcephalic osteodysplastic primordial dwarfism type 2210720C0432246OMIM08888516068605925


Genes (6) :BMPR1B GDF5 IHH NOG PCNT TFAP2B

Diseases (7) :210720 93388 112500 611377 185800 186570 169100
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.