Human Phenotype Ontology 
Grandparent Node:
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Abnormality of limb bone morphology (HP:0002813)help
Parent Node:
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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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0012165HP:0012165Oligodactyly0BTRC CL E G H89452440ORPHA16561144603482
HP:0012165HP:0012165Oligodactyly0CYP26B1 CL E G H56603614416Radiohumeral fusions with other skeletal and craniofacial anomalies614416C3280729OMIM1133620581605207
HP:0012165HP:0012165Oligodactyly0DLX5 CL E G H17492440ORPHA111272918600028
HP:0012165HP:0012165Oligodactyly0DLX6 CL E G H17502440ORPHA14202919600030
HP:0012165HP:0012165Oligodactyly0DONSON CL E G H29980251230Microcephaly-micromelia syndrome251230C1855079OMIM121762993611428
HP:0012165HP:0012165Oligodactyly0EPS15L1 CL E G H585132440ORPHA111424634616826
HP:0012165HP:0012165Oligodactyly0HOXD13 CL E G H3239610713Brachydactyly-syndactyly syndrome610713C1853137OMIM142715136142989
HP:0012165HP:0012165Oligodactyly0SEM1 CL E G H79792440ORPHA181810845601285
HP:0012165HP:0012165Oligodactyly0TP63 CL E G H86262440ORPHA112828215979603273
HP:0012165HP:0012165Oligodactyly0WNT10B CL E G H74802440ORPHA1203712775601906
HP:0012165HP:0012165Oligodactyly1BTRC CL E G H89452440ORPHA16561144603482
HP:0012165HP:0012165Oligodactyly1CYP26B1 CL E G H56603614416Radiohumeral fusions with other skeletal and craniofacial anomalies614416C3280729OMIM1133620581605207
HP:0012165HP:0012165Oligodactyly1DLX5 CL E G H17492440ORPHA111272918600028
HP:0012165HP:0012165Oligodactyly1DLX6 CL E G H17502440ORPHA14202919600030
HP:0012165HP:0012165Oligodactyly1DONSON CL E G H29980251230Microcephaly-micromelia syndrome251230C1855079OMIM121762993611428
HP:0012165HP:0012165Oligodactyly1EPS15L1 CL E G H585132440ORPHA111424634616826
HP:0012165HP:0012165Oligodactyly1HOXD13 CL E G H3239610713Brachydactyly-syndactyly syndrome610713C1853137OMIM142715136142989
HP:0012165HP:0012165Oligodactyly1SEM1 CL E G H79792440ORPHA181810845601285
HP:0012165HP:0012165Oligodactyly1TP63 CL E G H86262440ORPHA112828215979603273
HP:0012165HP:0012165Oligodactyly1WNT10B CL E G H74802440ORPHA1203712775601906
HP:0012165HP:0012165Oligodactyly2BTRC CL E G H89452440ORPHA16561144603482
HP:0012165HP:0012165Oligodactyly2CYP26B1 CL E G H56603614416Radiohumeral fusions with other skeletal and craniofacial anomalies614416C3280729OMIM1133620581605207
HP:0012165HP:0012165Oligodactyly2DLX5 CL E G H17492440ORPHA111272918600028
HP:0012165HP:0012165Oligodactyly2DLX6 CL E G H17502440ORPHA14202919600030
HP:0012165HP:0012165Oligodactyly2DONSON CL E G H29980251230Microcephaly-micromelia syndrome251230C1855079OMIM121762993611428
HP:0012165HP:0012165Oligodactyly2EPS15L1 CL E G H585132440ORPHA111424634616826
HP:0012165HP:0012165Oligodactyly2HOXD13 CL E G H3239610713Brachydactyly-syndactyly syndrome610713C1853137OMIM142715136142989
HP:0012165HP:0012165Oligodactyly2SEM1 CL E G H79792440ORPHA181810845601285
HP:0012165HP:0012165Oligodactyly2TP63 CL E G H86262440ORPHA112828215979603273
HP:0012165HP:0012165Oligodactyly2WNT10B CL E G H74802440ORPHA1203712775601906
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012165HP:0012165Oligodactyly0GLI3 CL E G H2737672Angiofollicular ganglionic hyperplasiaORPHA02445374319165240
HP:0012165HP:0012165Oligodactyly0GLI3 CL E G H2737146510Pallister-Hall syndrome146510C0265220OMIM02445374319165240
HP:0012165HP:0012165Oligodactyly0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA05622713315300269
HP:0012165HP:0012165Oligodactyly0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA01273797132159555
HP:0012165HP:0012165Oligodactyly0MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA02620715455300294
HP:0012165HP:0012165Oligodactyly0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA043780928862608667
HP:0012165HP:0012165Oligodactyly0RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA0131499811606462
HP:0012165HP:0012165Oligodactyly0SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA03823625566615743
HP:0012165HP:0012165Oligodactyly0SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA010048411111300040
HP:0012165HP:0012165Oligodactyly0SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA0282132468606062
HP:0012165HP:0012165Oligodactyly0TP63 CL E G H862669085ORPHA012828215979603273
HP:0012165HP:0012165Oligodactyly1GLI3 CL E G H2737672Angiofollicular ganglionic hyperplasiaORPHA02445374319165240
HP:0012165HP:0012165Oligodactyly1GLI3 CL E G H2737146510Pallister-Hall syndrome146510C0265220OMIM02445374319165240
HP:0012165HP:0012165Oligodactyly1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA05622713315300269
HP:0012165HP:0012165Oligodactyly1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA01273797132159555
HP:0012165HP:0012165Oligodactyly1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA02620715455300294
HP:0012165HP:0012165Oligodactyly1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA043780928862608667
HP:0012165HP:0012165Oligodactyly1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA0131499811606462
HP:0012165HP:0012165Oligodactyly1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA03823625566615743
HP:0012165HP:0012165Oligodactyly1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA010048411111300040
HP:0012165HP:0012165Oligodactyly1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA0282132468606062
HP:0012165HP:0012165Oligodactyly1TP63 CL E G H862669085ORPHA012828215979603273
HP:0012165HP:0012165Oligodactyly2GLI3 CL E G H2737672Angiofollicular ganglionic hyperplasiaORPHA02445374319165240
HP:0012165HP:0012165Oligodactyly2GLI3 CL E G H2737146510Pallister-Hall syndrome146510C0265220OMIM02445374319165240
HP:0012165HP:0012165Oligodactyly2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA05622713315300269
HP:0012165HP:0012165Oligodactyly2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA01273797132159555
HP:0012165HP:0012165Oligodactyly2MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA02620715455300294
HP:0012165HP:0012165Oligodactyly2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA043780928862608667
HP:0012165HP:0012165Oligodactyly2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA0131499811606462
HP:0012165HP:0012165Oligodactyly2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA03823625566615743
HP:0012165HP:0012165Oligodactyly2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA010048411111300040
HP:0012165HP:0012165Oligodactyly2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA0282132468606062
HP:0012165HP:0012165Oligodactyly2TP63 CL E G H862669085ORPHA012828215979603273


Genes (30) :APC BTRC CHD7 CYP26B1 DLL4 DLX5 DLX6 DONSON EPS15L1 ESCO2 GLI3 HDAC8 HOXD13 KMT2A LRP4 MBTPS2 NIPBL PORCN RAD21 RECQL4 SEM1 SEMA3E SETD5 SF3B4 SMC1A SMC3 SMOC1 TP63 WNT10B WNT7A

Diseases (24) :2440 614416 251230 672 146510 199 610713 2273 69085 3258 616589 268300 122470 305600 1225 1788 154400 1106 206920 225300 2879 228930 276820 214800
 

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