Human Phenotype Ontology 
Grandparent Node:
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Abnormal finger phalanx morphology (HP:0005918)help
Parent Node:
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Abnormality of the phalanges of the 2nd finger (HP:0009541)help
Parent Node:
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Aplasia/Hypoplasia of the phalanges of the hand (HP:0009767)help
..Starting node
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Aplasia/Hypoplasia of the phalanges of the 2nd finger (HP:0009552)help
Term ID: 9552
Name: Aplasia/Hypoplasia of the phalanges of the 2nd finger
Synonym: Absent/small index finger bone; Absent/underdeveloped index finger bone
Definition:
Comments:
Reference: HP:0009552
Genes and Diseases:
 
       Child Nodes:
........expandAplasia/Hypoplasia of the distal phalanx of the 2nd finger (HP:0009557) help
................... HP:0009565 Aplasia of the distal phalanx of the 2nd finger
................... HP:0009566 Short distal phalanx of the 2nd finger
........expandAplasia/Hypoplasia of the middle phalanx of the 2nd finger (HP:0009568) help
................... HP:0009576 Absent middle phalanx of 2nd finger
................... HP:0009577 Short middle phalanx of the 2nd finger
........expandAplasia/Hypoplasia of the proximal phalanx of the 2nd finger (HP:0009580) help
................... HP:0009596 Aplasia of the proximal phalanx of the 2nd finger
................... HP:0009597 Short proximal phalanx of the 2nd finger

 Sister Nodes: 
..expandAphalangy of the hands (HP:0005886) help
..expandAplasia of the phalanges of the hand (HP:0009802) help
..expandAplasia/Hypoplasia of the distal phalanges of the hand (HP:0009835) help
..expandAplasia/Hypoplasia of the middle phalanges of the hand (HP:0009843) help
..expandAplasia/Hypoplasia of the phalanges of the 3rd finger (HP:0009447) help
..expandAplasia/Hypoplasia of the phalanges of the 4th finger (HP:0009408) help
..expandAplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376) help
..expandAplasia/Hypoplasia of the phalanges of the thumb (HP:0009658) help
..expandAplasia/Hypoplasia of the proximal phalanges of the hand (HP:0009851) help
..expandShort phalanx of finger (HP:0009803) 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:0009552HP:0009552Aplasia/Hypoplasia of the phalanges of the 2nd finger0BHLHA9 CL E G H72785735126OMIM:609432Syndactyly, mesoaxial synostotic, with phalangeal reduction4
HP:0009552HP:0009552Aplasia/Hypoplasia of the phalanges of the 2nd finger0BMP2 CL E G H6501069ORPHA:93396Brachydactyly type A213
HP:0009552HP:0009552Aplasia/Hypoplasia of the phalanges of the 2nd finger0BMP2 CL E G H6501069OMIM:112600Brachydactyly, type A213
HP:0009552HP:0009552Aplasia/Hypoplasia of the phalanges of the 2nd finger0BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type90
HP:0009552HP:0009552Aplasia/Hypoplasia of the phalanges of the 2nd finger0BMPR1B CL E G H6581077ORPHA:93396Brachydactyly type A290
HP:0009552HP:0009552Aplasia/Hypoplasia of the phalanges of the 2nd finger0BMPR1B CL E G H6581077OMIM:616849BRACHYDACTYLY, TYPE A1, D; BDA1D90
HP:0009552HP:0009552Aplasia/Hypoplasia of the phalanges of the 2nd finger0BMPR1B CL E G H6581077OMIM:112600Brachydactyly, type A290
HP:0009552HP:0009552Aplasia/Hypoplasia of the phalanges of the 2nd finger0COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia284
HP:0009552HP:0009552Aplasia/Hypoplasia of the phalanges of the 2nd finger0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0009552HP:0009552Aplasia/Hypoplasia of the phalanges of the 2nd finger0GDF5 CL E G H82004220ORPHA:93396Brachydactyly type A252
HP:0009552HP:0009552Aplasia/Hypoplasia of the phalanges of the 2nd finger0GDF5 CL E G H82004220OMIM:615072Brachydactyly, type A1, C52
HP:0009552HP:0009552Aplasia/Hypoplasia of the phalanges of the 2nd finger0GDF5 CL E G H82004220OMIM:112600Brachydactyly, type A252
HP:0009552HP:0009552Aplasia/Hypoplasia of the phalanges of the 2nd finger0GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C52
HP:0009552HP:0009552Aplasia/Hypoplasia of the phalanges of the 2nd finger0HOXD13 CL E G H32395136ORPHA:93409Brachydactyly-syndactyly, Zhao type25
HP:0009552HP:0009552Aplasia/Hypoplasia of the phalanges of the 2nd finger0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0009552HP:0009552Aplasia/Hypoplasia of the phalanges of the 2nd finger0INTU CL E G H2715229239OMIM:617926OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0009552HP:0009552Aplasia/Hypoplasia of the phalanges of the 2nd finger0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndrome
HP:0009552HP:0009552Aplasia/Hypoplasia of the phalanges of the 2nd finger0MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 135
HP:0009552HP:0009552Aplasia/Hypoplasia of the phalanges of the 2nd finger0NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects34
HP:0009552HP:0009552Aplasia/Hypoplasia of the phalanges of the 2nd finger0RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia90
HP:0009552HP:0009552Aplasia/Hypoplasia of the phalanges of the 2nd finger0RUNX2 CL E G H86010472OMIM:156510Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly90
HP:0009552HP:0009552Aplasia/Hypoplasia of the phalanges of the 2nd finger0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0009552HP:0009568Aplasia/Hypoplasia of the middle phalanx of the 2nd finger1BHLHA9 CL E G H72785735126OMIM:609432Syndactyly, mesoaxial synostotic, with phalangeal reduction.4
HP:0009552HP:0009568Aplasia/Hypoplasia of the middle phalanx of the 2nd finger1BMP2 CL E G H6501069ORPHA:93396Brachydactyly type A2HP:0040283 - Occasional13
HP:0009552HP:0009568Aplasia/Hypoplasia of the middle phalanx of the 2nd finger1BMP2 CL E G H6501069OMIM:112600Brachydactyly, type A213
HP:0009552HP:0009580Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger1BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type90
HP:0009552HP:0009568Aplasia/Hypoplasia of the middle phalanx of the 2nd finger1BMPR1B CL E G H6581077ORPHA:93396Brachydactyly type A2HP:0040283 - Occasional90
HP:0009552HP:0009568Aplasia/Hypoplasia of the middle phalanx of the 2nd finger1BMPR1B CL E G H6581077OMIM:616849BRACHYDACTYLY, TYPE A1, D; BDA1D90
HP:0009552HP:0009557Aplasia/Hypoplasia of the distal phalanx of the 2nd finger1BMPR1B CL E G H6581077OMIM:616849BRACHYDACTYLY, TYPE A1, D; BDA1D90
HP:0009552HP:0009568Aplasia/Hypoplasia of the middle phalanx of the 2nd finger1BMPR1B CL E G H6581077OMIM:112600Brachydactyly, type A290
HP:0009552HP:0009557Aplasia/Hypoplasia of the distal phalanx of the 2nd finger1COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia284
HP:0009552HP:0009568Aplasia/Hypoplasia of the middle phalanx of the 2nd finger1FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0009552HP:0009557Aplasia/Hypoplasia of the distal phalanx of the 2nd finger1FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0009552HP:0009568Aplasia/Hypoplasia of the middle phalanx of the 2nd finger1GDF5 CL E G H82004220ORPHA:93396Brachydactyly type A2HP:0040283 - Occasional52
HP:0009552HP:0009568Aplasia/Hypoplasia of the middle phalanx of the 2nd finger1GDF5 CL E G H82004220OMIM:615072Brachydactyly, type A1, C52
HP:0009552HP:0009568Aplasia/Hypoplasia of the middle phalanx of the 2nd finger1GDF5 CL E G H82004220OMIM:112600Brachydactyly, type A252
HP:0009552HP:0009568Aplasia/Hypoplasia of the middle phalanx of the 2nd finger1GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C52
HP:0009552HP:0009568Aplasia/Hypoplasia of the middle phalanx of the 2nd finger1HOXD13 CL E G H32395136ORPHA:93409Brachydactyly-syndactyly, Zhao type25
HP:0009552HP:0009568Aplasia/Hypoplasia of the middle phalanx of the 2nd finger1IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0009552HP:0009568Aplasia/Hypoplasia of the middle phalanx of the 2nd finger1INTU CL E G H2715229239OMIM:617926OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0009552HP:0009580Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger1KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndrome
HP:0009552HP:0009568Aplasia/Hypoplasia of the middle phalanx of the 2nd finger1MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 135
HP:0009552HP:0009568Aplasia/Hypoplasia of the middle phalanx of the 2nd finger1NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects34
HP:0009552HP:0009557Aplasia/Hypoplasia of the distal phalanx of the 2nd finger1NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects34
HP:0009552HP:0009568Aplasia/Hypoplasia of the middle phalanx of the 2nd finger1RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia90
HP:0009552HP:0009568Aplasia/Hypoplasia of the middle phalanx of the 2nd finger1RUNX2 CL E G H86010472OMIM:156510Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly90
HP:0009552HP:0009568Aplasia/Hypoplasia of the middle phalanx of the 2nd finger1SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0009552HP:0009596Aplasia of the proximal phalanx of the 2nd finger2BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type90
HP:0009552HP:0009566Short distal phalanx of the 2nd finger2BMPR1B CL E G H6581077OMIM:616849BRACHYDACTYLY, TYPE A1, D; BDA1D90
HP:0009552HP:0009566Short distal phalanx of the 2nd finger2COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia.284
HP:0009552HP:0009565Aplasia of the distal phalanx of the 2nd finger2FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0009552HP:0009576Absent middle phalanx of 2nd finger2FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0009552HP:0009577Short middle phalanx of the 2nd finger2GDF5 CL E G H82004220OMIM:615072Brachydactyly, type A1, C52
HP:0009552HP:0009577Short middle phalanx of the 2nd finger2GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C52
HP:0009552HP:0009577Short middle phalanx of the 2nd finger2HOXD13 CL E G H32395136ORPHA:93409Brachydactyly-syndactyly, Zhao typeHP:0040281 - Very frequent25
HP:0009552HP:0009576Absent middle phalanx of 2nd finger2IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0009552HP:0009577Short middle phalanx of the 2nd finger2INTU CL E G H2715229239OMIM:617926OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0009552HP:0009597Short proximal phalanx of the 2nd finger2KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040283 - Occasional
HP:0009552HP:0009577Short middle phalanx of the 2nd finger2MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 1HP:0040282 - Frequent35
HP:0009552HP:0009565Aplasia of the distal phalanx of the 2nd finger2NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects34
HP:0009552HP:0009576Absent middle phalanx of 2nd finger2NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects34
HP:0009552HP:0009577Short middle phalanx of the 2nd finger2RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia.90
HP:0009552HP:0009577Short middle phalanx of the 2nd finger2RUNX2 CL E G H86010472OMIM:156510Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly.90
HP:0009552HP:0009577Short middle phalanx of the 2nd finger2SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138


Genes (14) :BHLHA9 BMP2 BMPR1B COL2A1 FIG4 GDF5 HOXD13 IFT140 INTU KIF15 MYCN NSDHL RUNX2 SRCAP

Diseases (18) :OMIM:609432 ORPHA:93396 OMIM:112600 OMIM:609441 OMIM:616849 OMIM:271700 OMIM:216340 OMIM:615072 OMIM:113100 ORPHA:93409 OMIM:266920 OMIM:617926 ORPHA:261323 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.