Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of thumb phalanx (HP:0009602)help
Parent Node:
expandAbnormality of the distal phalanx of the thumb (HP:0009617)help
..Starting node
..expandDysplastic distal thumb phalanges with a central hole (HP:0005688)help
Term ID: 5688
Name: Dysplastic distal thumb phalanges with a central hole
Synonym:
Definition:
Comments:
Reference: HP:0005688
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormality of the epiphysis of the distal phalanx of the thumb (HP:0009662) help
..expandAplasia/Hypoplasia of the distal phalanx of the thumb (HP:0009641) help
..expandBroad distal phalanx of the thumb (HP:0009642) help
..expandBullet-shaped distal phalanx of the thumb (HP:0009643) help
..expandCurved distal phalanx of the thumb (HP:0009644) help
..expandDuplication of the distal phalanx of the thumb (HP:0009612) help
..expandHitchhiker thumb (HP:0001234) help
..expandobsolete Bifid thumb distal phalanx (HP:0005848) help
..expandOsteolytic defect of the distal phalanx of the thumb (HP:0009645) help
..expandPatchy sclerosis of the distal phalanx of the thumb (HP:0009646) help
..expandRadial deviation of thumb terminal phalanx (HP:0005895) help
..expandShort proximal phalanx of thumb (HP:0009638) help
..expandSymphalangism of the thumb (HP:0009656) help
..expandTriangular shaped distal phalanx of the thumb (HP:0009648) 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:0005688HP:0005688Dysplastic distal thumb phalanges with a central hole0GLI3 CL E G H27374319OMIM:174700Polydactyly, preaxial IV.270


Genes (1) :GLI3

Diseases (1) :OMIM:174700
 

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