Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of finger (HP:0001167)help
Grandparent Node:
expandAplasia/hypoplasia involving bones of the hand (HP:0005927)help
Parent Node:
expandAbnormal 2nd finger morphology (HP:0004100)help
Parent Node:
expandAplasia/Hypoplasia of fingers (HP:0006265)help
..Starting node
..expandAplasia/Hypoplasia of the 2nd finger (HP:0006264)help
Term ID: 6264
Name: Aplasia/Hypoplasia of the 2nd finger
Synonym: Absent/small index finger; Absent/underdeveloped index finger
Definition: A small/hypoplastic or absent/aplastic 2nd finger.
Comments:
Reference: HP:0006264
Genes and Diseases:
 
       Child Nodes:
........expandAplasia of the 2nd finger (HP:0009535) help
................... HP:0009565 Aplasia of the distal phalanx of the 2nd finger
................... HP:0009576 Absent middle phalanx of 2nd finger
................... HP:0009596 Aplasia of the proximal phalanx of the 2nd finger
........expandShort 2nd finger (HP:0009536) help
................... HP:0009566 Short distal phalanx of the 2nd finger
................... HP:0009577 Short middle phalanx of the 2nd finger
................... HP:0009597 Short proximal phalanx of the 2nd finger

 Sister Nodes: 
..expandAplasia of the fingers (HP:0009380) help
..expandAplasia/Hypoplasia of the 3rd finger (HP:0009318) help
..expandAplasia/Hypoplasia of the 4th finger (HP:0009272) help
..expandAplasia/Hypoplasia of the 5th finger (HP:0006262) help
..expandAplasia/Hypoplasia of the thumb (HP:0009601) help
..expandProportionate shortening of all digits (HP:0006165) help
..expandShort finger (HP:0009381) help
..expandSmall finger (HP:0030033) 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:0006264HP:0006264Aplasia/Hypoplasia of the 2nd finger0BMP2 CL E G H6501069OMIM:112600Brachydactyly, type A213
HP:0006264HP:0006264Aplasia/Hypoplasia of the 2nd finger0BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type90
HP:0006264HP:0006264Aplasia/Hypoplasia of the 2nd finger0BMPR1B CL E G H6581077OMIM:616849BRACHYDACTYLY, TYPE A1, D; BDA1D90
HP:0006264HP:0006264Aplasia/Hypoplasia of the 2nd finger0BMPR1B CL E G H6581077OMIM:112600Brachydactyly, type A290
HP:0006264HP:0006264Aplasia/Hypoplasia of the 2nd finger0COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia284
HP:0006264HP:0006264Aplasia/Hypoplasia of the 2nd finger0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0006264HP:0006264Aplasia/Hypoplasia of the 2nd finger0GDF5 CL E G H82004220OMIM:615072Brachydactyly, type A1, C52
HP:0006264HP:0006264Aplasia/Hypoplasia of the 2nd finger0GDF5 CL E G H82004220OMIM:112600Brachydactyly, type A252
HP:0006264HP:0006264Aplasia/Hypoplasia of the 2nd finger0GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C52
HP:0006264HP:0006264Aplasia/Hypoplasia of the 2nd finger0GDF5 CL E G H82004220OMIM:615298SYMPHALANGISM, PROXIMAL, 1B; SYM1B52
HP:0006264HP:0006264Aplasia/Hypoplasia of the 2nd finger0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndrome73
HP:0006264HP:0006264Aplasia/Hypoplasia of the 2nd finger0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndrome
HP:0006264HP:0006264Aplasia/Hypoplasia of the 2nd finger0HOXD13 CL E G H32395136ORPHA:93409Brachydactyly-syndactyly, Zhao type25
HP:0006264HP:0006264Aplasia/Hypoplasia of the 2nd finger0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0006264HP:0006264Aplasia/Hypoplasia of the 2nd finger0INTU CL E G H2715229239OMIM:617926OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0006264HP:0006264Aplasia/Hypoplasia of the 2nd finger0IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0006264HP:0006264Aplasia/Hypoplasia of the 2nd finger0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndrome
HP:0006264HP:0006264Aplasia/Hypoplasia of the 2nd finger0MEIS2 CL E G H42127001OMIM:600987Cleft palate, cardiac defects, and mental retardation7
HP:0006264HP:0006264Aplasia/Hypoplasia of the 2nd finger0MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 135
HP:0006264HP:0006264Aplasia/Hypoplasia of the 2nd finger0NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects34
HP:0006264HP:0006264Aplasia/Hypoplasia of the 2nd finger0RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia90
HP:0006264HP:0006264Aplasia/Hypoplasia of the 2nd finger0RUNX2 CL E G H86010472OMIM:156510Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly90
HP:0006264HP:0006264Aplasia/Hypoplasia of the 2nd finger0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0006264HP:0009536Short 2nd finger1BMP2 CL E G H6501069OMIM:112600Brachydactyly, type A213
HP:0006264HP:0009535Aplasia of the 2nd finger1BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type90
HP:0006264HP:0009536Short 2nd finger1BMPR1B CL E G H6581077OMIM:616849BRACHYDACTYLY, TYPE A1, D; BDA1D90
HP:0006264HP:0009536Short 2nd finger1BMPR1B CL E G H6581077OMIM:112600Brachydactyly, type A290
HP:0006264HP:0009536Short 2nd finger1COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia284
HP:0006264HP:0009536Short 2nd finger1FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0006264HP:0009535Aplasia of the 2nd finger1FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0006264HP:0009536Short 2nd finger1GDF5 CL E G H82004220OMIM:615072Brachydactyly, type A1, C52
HP:0006264HP:0009536Short 2nd finger1GDF5 CL E G H82004220OMIM:112600Brachydactyly, type A252
HP:0006264HP:0009536Short 2nd finger1GDF5 CL E G H82004220OMIM:113100Brachydactyly, type CHP:0040281 - Very frequent52
HP:0006264HP:0009536Short 2nd finger1GDF5 CL E G H82004220OMIM:615298SYMPHALANGISM, PROXIMAL, 1B; SYM1B52
HP:0006264HP:0009536Short 2nd finger1GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent73
HP:0006264HP:0009536Short 2nd finger1GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent
HP:0006264HP:0009536Short 2nd finger1HOXD13 CL E G H32395136ORPHA:93409Brachydactyly-syndactyly, Zhao type25
HP:0006264HP:0009535Aplasia of the 2nd finger1IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0006264HP:0009536Short 2nd finger1INTU CL E G H2715229239OMIM:617926OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0006264HP:0009536Short 2nd finger1IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome.4
HP:0006264HP:0009536Short 2nd finger1KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndrome
HP:0006264HP:0009536Short 2nd finger1MEIS2 CL E G H42127001OMIM:600987Cleft palate, cardiac defects, and mental retardation.7
HP:0006264HP:0009536Short 2nd finger1MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 135
HP:0006264HP:0009535Aplasia of the 2nd finger1NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects34
HP:0006264HP:0009536Short 2nd finger1RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia90
HP:0006264HP:0009536Short 2nd finger1RUNX2 CL E G H86010472OMIM:156510Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly90
HP:0006264HP:0009536Short 2nd finger1SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0006264HP:0009596Aplasia of the proximal phalanx of the 2nd finger2BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type90
HP:0006264HP:0009566Short distal phalanx of the 2nd finger2BMPR1B CL E G H6581077OMIM:616849BRACHYDACTYLY, TYPE A1, D; BDA1D90
HP:0006264HP:0009566Short distal phalanx of the 2nd finger2COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia.284
HP:0006264HP:0009565Aplasia of the distal phalanx of the 2nd finger2FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0006264HP:0009576Absent middle phalanx of 2nd finger2FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0006264HP:0009577Short middle phalanx of the 2nd finger2GDF5 CL E G H82004220OMIM:615072Brachydactyly, type A1, C52
HP:0006264HP:0009577Short middle phalanx of the 2nd finger2GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C52
HP:0006264HP:0009577Short middle phalanx of the 2nd finger2HOXD13 CL E G H32395136ORPHA:93409Brachydactyly-syndactyly, Zhao typeHP:0040281 - Very frequent25
HP:0006264HP:0009576Absent middle phalanx of 2nd finger2IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0006264HP:0009577Short middle phalanx of the 2nd finger2INTU CL E G H2715229239OMIM:617926OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0006264HP:0009597Short proximal phalanx of the 2nd finger2KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040283 - Occasional
HP:0006264HP:0009577Short middle phalanx of the 2nd finger2MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 1HP:0040282 - Frequent35
HP:0006264HP:0009565Aplasia of the distal phalanx of the 2nd finger2NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects34
HP:0006264HP:0009576Absent middle phalanx of 2nd finger2NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects34
HP:0006264HP:0009577Short middle phalanx of the 2nd finger2RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia.90
HP:0006264HP:0009577Short middle phalanx of the 2nd finger2RUNX2 CL E G H86010472OMIM:156510Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly.90
HP:0006264HP:0009577Short middle phalanx of the 2nd finger2SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138


Genes (17) :BMP2 BMPR1B COL2A1 FIG4 GDF5 GPC3 GPC4 HOXD13 IFT140 INTU IRX5 KIF15 MEIS2 MYCN NSDHL RUNX2 SRCAP

Diseases (20) :OMIM:112600 OMIM:609441 OMIM:616849 OMIM:271700 OMIM:216340 OMIM:615072 OMIM:113100 OMIM:615298 ORPHA:373 ORPHA:93409 OMIM:266920 OMIM:617926 OMIM:611174 ORPHA:261323 OMIM:600987 ORPHA:391641 OMIM:308050 OMIM:119600 OMIM:156510 OMIM:136140
 

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