Human Phenotype Ontology 
Grandparent Node:
expandAbnormal digit morphology (HP:0011297)help
Parent Node:
expandAplasia of the fingers (HP:0009380)help
Parent Node:
expandOligodactyly (HP:0012165)help
..Starting node
..expandHand oligodactyly (HP:0001180)help
Term ID: 1180
Name: Hand oligodactyly
Synonym: Hand has less than 5 fingers
Definition: A developmental defect resulting in the presence of fewer than the normal number of fingers.
Comments:
Reference: HP:0001180
Genes and Diseases:
 
       Child Nodes:
........expandHand monodactyly (HP:0004058) help
........expandPostaxial oligodactyly (HP:0006210) help
........expandUnilateral oligodactyly (HP:0006230) help

 Sister Nodes: 
..expandFoot oligodactyly (HP:0001849) 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:0001180HP:0001180Hand oligodactyly0BHLHA9 CL E G H72785735126ORPHA:1986Gollop-Wolfgang complex4
HP:0001180HP:0001180Hand oligodactyly0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0001180HP:0001180Hand oligodactyly0DLX5 CL E G H17492918OMIM:183600Split-Hand/foot malformation 13
HP:0001180HP:0001180Hand oligodactyly0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0001180HP:0001180Hand oligodactyly0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0001180HP:0001180Hand oligodactyly0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0001180HP:0001180Hand oligodactyly0RECQL4 CL E G H94019949ORPHA:1225Baller-Gerold syndromeHP:0040281 - Very frequent445
HP:0001180HP:0001180Hand oligodactyly0SF3B4 CL E G H1026210771ORPHA:1788Acrofacial dysostosis, Rodríguez typeHP:0040281 - Very frequent49
HP:0001180HP:0001180Hand oligodactyly0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040282 - Frequent15
HP:0001180HP:0001180Hand oligodactyly0SMOC1 CL E G H6409320318OMIM:206920Microphthalmia with limb anomalies.15
HP:0001180HP:0001180Hand oligodactyly0WNT10B CL E G H748012775OMIM:225300SPLIT-HAND/FOOT MALFORMATION 6; SHFM64
HP:0001180HP:0001180Hand oligodactyly0WNT7A CL E G H747612786OMIM:228930Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly13
HP:0001180HP:0001180Hand oligodactyly0WNT7A CL E G H747612786ORPHA:2879Phocomelia, Schinzel typeHP:0040281 - Very frequent13
HP:0001180HP:0001180Hand oligodactyly0WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency13
HP:0001180HP:0006230Unilateral oligodactyly1 CL E G H
HP:0001180HP:0006210Postaxial oligodactyly1 CL E G H
HP:0001180HP:0004058Hand monodactyly1BHLHA9 CL E G H72785735126ORPHA:1986Gollop-Wolfgang complexHP:0040281 - Very frequent4
HP:0001180HP:0004058Hand monodactyly1CHD7 CL E G H5563620626OMIM:214800Charge syndromeHP:0040283 - Occasional515


Genes (11) :BHLHA9 CHD7 DLX5 ESCO2 NIPBL PORCN RECQL4 SF3B4 SMOC1 WNT10B WNT7A

Diseases (14) :ORPHA:1986 OMIM:214800 OMIM:183600 OMIM:268300 OMIM:122470 OMIM:305600 ORPHA:1225 ORPHA:1788 ORPHA:1106 OMIM:206920 OMIM:225300 OMIM:228930 ORPHA:2879 OMIM:276820
 

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