Human Phenotype Ontology 
Grandparent Node:
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Abnormality of limb bone morphology (HP:0002813)help
Parent Node:
expand
Abnormal digit morphology (HP:0011297)help
..Starting node
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Oligodactyly (HP:0012165)help
Term ID: 12165
Name: Oligodactyly
Synonym:
Definition: A developmental defect resulting in the presence of fewer than the normal number of digits.
Comments:
Reference: HP:0012165
Genes and Diseases:
 
       Child Nodes:
........expandHand oligodactyly (HP:0001180) help
................... HP:0004058 Hand monodactyly
................... HP:0006210 Postaxial oligodactyly
................... HP:0006230 Unilateral oligodactyly
........expandFoot oligodactyly (HP:0001849) help
................... HP:0200054 Foot monodactyly

 Sister Nodes: 
..expandAbnormality of finger (HP:0001167) help
..expandAbnormality of toe (HP:0001780) help
..expandBroad phalanx (HP:0006009) help
..expandClinodactyly (HP:0030084) help
..expandClubbing (HP:0001217) help
..expandMacrodactyly (HP:0004099) help
..expandPolydactyly (HP:0010442) help
..expandShort digit (HP:0011927) help
..expandSyndactyly (HP:0001159) 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:0012165HP:0012165Oligodactyly0APC CL E G H324583ORPHA:3258Cenani-Lenz syndromeHP:0040281 - Very frequent3179
HP:0012165HP:0012165Oligodactyly0BHLHA9 CL E G H72785735126ORPHA:1986Gollop-Wolfgang complex4
HP:0012165HP:0012165Oligodactyly0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional
HP:0012165HP:0012165Oligodactyly0BTRC CL E G H89451144ORPHA:2440Isolated split hand-split foot malformationHP:0040281 - Very frequent2
HP:0012165HP:0012165Oligodactyly0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0012165HP:0012165Oligodactyly0CYP26B1 CL E G H5660320581OMIM:614416RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES; RHFCA4
HP:0012165HP:0012165Oligodactyly0DLL4 CL E G H545672910OMIM:616589Adams-Oliver syndrome 69
HP:0012165HP:0012165Oligodactyly0DLX5 CL E G H17492918ORPHA:2440Isolated split hand-split foot malformationHP:0040281 - Very frequent3
HP:0012165HP:0012165Oligodactyly0DLX5 CL E G H17492918OMIM:183600Split-Hand/foot malformation 13
HP:0012165HP:0012165Oligodactyly0DLX6 CL E G H17502919ORPHA:2440Isolated split hand-split foot malformationHP:0040281 - Very frequent
HP:0012165HP:0012165Oligodactyly0DONSON CL E G H299802993OMIM:251230Microcephaly-Micromelia syndrome.9
HP:0012165HP:0012165Oligodactyly0EPS15L1 CL E G H5851324634ORPHA:2440Isolated split hand-split foot malformationHP:0040281 - Very frequent
HP:0012165HP:0012165Oligodactyly0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome92
HP:0012165HP:0012165Oligodactyly0FBXW4 CL E G H646810847ORPHA:2440Isolated split hand-split foot malformationHP:0040281 - Very frequent37
HP:0012165HP:0012165Oligodactyly0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040283 - Occasional270
HP:0012165HP:0012165Oligodactyly0GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0012165HP:0012165Oligodactyly0GLI3 CL E G H27374319ORPHA:93322Tibial hemimeliaHP:0040283 - Occasional270
HP:0012165HP:0012165Oligodactyly0H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0012165HP:0012165Oligodactyly0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional37
HP:0012165HP:0012165Oligodactyly0HOXD13 CL E G H32395136OMIM:610713BRACHYDACTYLY-SYNDACTYLY SYNDROME; BDSD25
HP:0012165HP:0012165Oligodactyly0LRP4 CL E G H40386696ORPHA:3258Cenani-Lenz syndromeHP:0040281 - Very frequent124
HP:0012165HP:0012165Oligodactyly0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040283 - Occasional22
HP:0012165HP:0012165Oligodactyly0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional494
HP:0012165HP:0012165Oligodactyly0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1494
HP:0012165HP:0012165Oligodactyly0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia20
HP:0012165HP:0012165Oligodactyly0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional25
HP:0012165HP:0012165Oligodactyly0RECQL4 CL E G H94019949ORPHA:1225Baller-Gerold syndrome445
HP:0012165HP:0012165Oligodactyly0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0012165HP:0012165Oligodactyly0SEM1 CL E G H797910845ORPHA:2440Isolated split hand-split foot malformationHP:0040281 - Very frequent
HP:0012165HP:0012165Oligodactyly0SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type49
HP:0012165HP:0012165Oligodactyly0SF3B4 CL E G H1026210771ORPHA:1788Acrofacial dysostosis, Rodríguez type49
HP:0012165HP:0012165Oligodactyly0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional135
HP:0012165HP:0012165Oligodactyly0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional91
HP:0012165HP:0012165Oligodactyly0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomalies15
HP:0012165HP:0012165Oligodactyly0SMOC1 CL E G H6409320318OMIM:206920Microphthalmia with limb anomalies15
HP:0012165HP:0012165Oligodactyly0TP63 CL E G H862615979ORPHA:2440Isolated split hand-split foot malformationHP:0040281 - Very frequent140
HP:0012165HP:0012165Oligodactyly0TP63 CL E G H862615979ORPHA:69085Limb-mammary syndromeHP:0040283 - Occasional140
HP:0012165HP:0012165Oligodactyly0WNT10B CL E G H748012775ORPHA:2440Isolated split hand-split foot malformationHP:0040281 - Very frequent4
HP:0012165HP:0012165Oligodactyly0WNT10B CL E G H748012775OMIM:225300SPLIT-HAND/FOOT MALFORMATION 6; SHFM64
HP:0012165HP:0012165Oligodactyly0WNT7A CL E G H747612786OMIM:228930Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly13
HP:0012165HP:0012165Oligodactyly0WNT7A CL E G H747612786ORPHA:2879Phocomelia, Schinzel type13
HP:0012165HP:0012165Oligodactyly0WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency13
HP:0012165HP:0001849Foot oligodactyly1APC CL E G H324583ORPHA:3258Cenani-Lenz syndromeHP:0040283 - Occasional3179
HP:0012165HP:0001180Hand oligodactyly1BHLHA9 CL E G H72785735126ORPHA:1986Gollop-Wolfgang complex4
HP:0012165HP:0001180Hand oligodactyly1CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0012165HP:0001849Foot oligodactyly1DLL4 CL E G H545672910OMIM:616589Adams-Oliver syndrome 6.9
HP:0012165HP:0001180Hand oligodactyly1DLX5 CL E G H17492918OMIM:183600Split-Hand/foot malformation 13
HP:0012165HP:0001849Foot oligodactyly1DLX5 CL E G H17492918OMIM:183600Split-Hand/foot malformation 13
HP:0012165HP:0001180Hand oligodactyly1ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0012165HP:0001849Foot oligodactyly1GLI3 CL E G H27374319ORPHA:93322Tibial hemimeliaHP:0040283 - Occasional270
HP:0012165HP:0001849Foot oligodactyly1LRP4 CL E G H40386696ORPHA:3258Cenani-Lenz syndromeHP:0040283 - Occasional124
HP:0012165HP:0001180Hand oligodactyly1NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0012165HP:0001180Hand oligodactyly1PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0012165HP:0001849Foot oligodactyly1PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0012165HP:0001180Hand oligodactyly1RECQL4 CL E G H94019949ORPHA:1225Baller-Gerold syndromeHP:0040281 - Very frequent445
HP:0012165HP:0001849Foot oligodactyly1SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type.49
HP:0012165HP:0001180Hand oligodactyly1SF3B4 CL E G H1026210771ORPHA:1788Acrofacial dysostosis, Rodríguez typeHP:0040281 - Very frequent49
HP:0012165HP:0001849Foot oligodactyly1SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040282 - Frequent15
HP:0012165HP:0001849Foot oligodactyly1SMOC1 CL E G H6409320318OMIM:206920Microphthalmia with limb anomalies.15
HP:0012165HP:0001180Hand oligodactyly1SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040282 - Frequent15
HP:0012165HP:0001180Hand oligodactyly1SMOC1 CL E G H6409320318OMIM:206920Microphthalmia with limb anomalies.15
HP:0012165HP:0001849Foot oligodactyly1WNT10B CL E G H748012775OMIM:225300SPLIT-HAND/FOOT MALFORMATION 6; SHFM64
HP:0012165HP:0001180Hand oligodactyly1WNT10B CL E G H748012775OMIM:225300SPLIT-HAND/FOOT MALFORMATION 6; SHFM64
HP:0012165HP:0001849Foot oligodactyly1WNT7A CL E G H747612786OMIM:228930Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly13
HP:0012165HP:0001180Hand oligodactyly1WNT7A CL E G H747612786OMIM:228930Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly13
HP:0012165HP:0001180Hand oligodactyly1WNT7A CL E G H747612786ORPHA:2879Phocomelia, Schinzel typeHP:0040281 - Very frequent13
HP:0012165HP:0001849Foot oligodactyly1WNT7A CL E G H747612786ORPHA:2879Phocomelia, Schinzel typeHP:0040281 - Very frequent13
HP:0012165HP:0001849Foot oligodactyly1WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency13
HP:0012165HP:0001180Hand oligodactyly1WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency13
HP:0012165HP:0200054Foot monodactyly2 CL E G H
HP:0012165HP:0006230Unilateral oligodactyly2 CL E G H
HP:0012165HP:0006210Postaxial oligodactyly2 CL E G H
HP:0012165HP:0004058Hand monodactyly2BHLHA9 CL E G H72785735126ORPHA:1986Gollop-Wolfgang complexHP:0040281 - Very frequent4
HP:0012165HP:0004058Hand monodactyly2CHD7 CL E G H5563620626OMIM:214800Charge syndromeHP:0040283 - Occasional515


Genes (32) :APC BHLHA9 BRD4 BTRC CHD7 CYP26B1 DLL4 DLX5 DLX6 DONSON EPS15L1 ESCO2 FBXW4 GLI3 H4C3 HDAC8 HOXD13 LRP4 MBTPS2 NIPBL PORCN RAD21 RECQL4 RIPK4 SEM1 SF3B4 SMC1A SMC3 SMOC1 TP63 WNT10B WNT7A

Diseases (29) :ORPHA:3258 ORPHA:1986 ORPHA:199 ORPHA:2440 OMIM:214800 OMIM:614416 OMIM:616589 OMIM:183600 OMIM:251230 OMIM:268300 ORPHA:672 OMIM:146510 ORPHA:93322 OMIM:619758 OMIM:610713 ORPHA:2273 OMIM:122470 OMIM:305600 ORPHA:1225 OMIM:263650 OMIM:154400 ORPHA:1788 ORPHA:1106 OMIM:206920 ORPHA:69085 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.