Human Phenotype Ontology 
Grandparent Node:
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Abnormal 2nd finger morphology (HP:0004100)help
Grandparent Node:
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Aplasia/Hypoplasia of fingers (HP:0006265)help
Parent Node:
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Aplasia of the fingers (HP:0009380)help
Parent Node:
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Aplasia/Hypoplasia of the 2nd finger (HP:0006264)help
..Starting node
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Aplasia of the 2nd finger (HP:0009535)help
Term ID: 9535
Name: Aplasia of the 2nd finger
Synonym: Absent index finger; Absent index finger phalanges; Aplasia of the index finger
Definition: Absent 2nd (index) finger.
Comments:
Reference: HP:0009535
Genes and Diseases:
 
       Child Nodes:
........expandAplasia of the distal phalanx of the 2nd finger (HP:0009565) help
........expandAbsent middle phalanx of 2nd finger (HP:0009576) help
........expandAplasia of the proximal phalanx of the 2nd finger (HP:0009596) help

 Sister Nodes: 
..expandShort 2nd finger (HP:0009536) 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:0009535HP:0009535Aplasia of the 2nd finger0BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type90
HP:0009535HP:0009535Aplasia of the 2nd finger0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0009535HP:0009535Aplasia of the 2nd finger0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0009535HP:0009535Aplasia of the 2nd finger0NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects34
HP:0009535HP:0009596Aplasia of the proximal phalanx of the 2nd finger1BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type90
HP:0009535HP:0009576Absent middle phalanx of 2nd finger1FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0009535HP:0009565Aplasia of the distal phalanx of the 2nd finger1FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0009535HP:0009576Absent middle phalanx of 2nd finger1IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0009535HP:0009565Aplasia of the distal phalanx of the 2nd finger1NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects34
HP:0009535HP:0009576Absent middle phalanx of 2nd finger1NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects34


Genes (4) :BMPR1B FIG4 IFT140 NSDHL

Diseases (4) :OMIM:609441 OMIM:216340 OMIM:266920 OMIM:308050
 

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