Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of finger (HP:0001167)help
Grandparent Node:
expand
Aplasia/hypoplasia involving bones of the hand (HP:0005927)help
Parent Node:
expand
Abnormal 4th finger morphology (HP:0004188)help
Parent Node:
expand
Aplasia/Hypoplasia of fingers (HP:0006265)help
..Starting node
..expand
Aplasia/Hypoplasia of the 4th finger (HP:0009272)help
Term ID: 9272
Name: Aplasia/Hypoplasia of the 4th finger
Synonym: Absent/small ring finger bone; Absent/underdeveloped ring finger bone
Definition: A small/hypoplastic or absent/aplastic 4th (ring) finger.
Comments:
Reference: HP:0009272
Genes and Diseases:
 
       Child Nodes:
........expandShort 4th finger (HP:0009280) help
................... HP:0009290 Short distal phalanx of the 4th finger
................... HP:0009295 Short middle phalanx of the 4th finger
................... HP:0009301 Short proximal phalanx of the 4th finger
........expandAplasia of the 4th finger (HP:0009281) help
................... HP:0009291 Aplasia of the distal phalanx of the 4th finger
................... HP:0009294 Absent middle phalanx of 4th finger
................... HP:0009298 Aplasia of the proximal phalanx of the 4th finger

 Sister Nodes: 
..expandAplasia of the fingers (HP:0009380) help
..expandAplasia/Hypoplasia of the 2nd finger (HP:0006264) help
..expandAplasia/Hypoplasia of the 3rd finger (HP:0009318) 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:0009272HP:0009272Aplasia/Hypoplasia of the 4th finger0COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia284
HP:0009272HP:0009272Aplasia/Hypoplasia of the 4th finger0GDF5 CL E G H82004220OMIM:615072Brachydactyly, type A1, C52
HP:0009272HP:0009272Aplasia/Hypoplasia of the 4th finger0MECOM CL E G H21223498OMIM:616738RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT24
HP:0009272HP:0009272Aplasia/Hypoplasia of the 4th finger0NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0009272HP:0009272Aplasia/Hypoplasia of the 4th finger0TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome100
HP:0009272HP:0009280Short 4th finger1COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia284
HP:0009272HP:0009280Short 4th finger1GDF5 CL E G H82004220OMIM:615072Brachydactyly, type A1, C52
HP:0009272HP:0009280Short 4th finger1MECOM CL E G H21223498OMIM:616738RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT24
HP:0009272HP:0009280Short 4th finger1NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0009272HP:0009281Aplasia of the 4th finger1TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome100
HP:0009272HP:0009291Aplasia of the distal phalanx of the 4th finger2 CL E G H
HP:0009272HP:0009301Short proximal phalanx of the 4th finger2 CL E G H
HP:0009272HP:0009298Aplasia of the proximal phalanx of the 4th finger2 CL E G H
HP:0009272HP:0009294Absent middle phalanx of 4th finger2 CL E G H
HP:0009272HP:0009290Short distal phalanx of the 4th finger2COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia.284
HP:0009272HP:0009295Short middle phalanx of the 4th finger2GDF5 CL E G H82004220OMIM:615072Brachydactyly, type A1, C52
HP:0009272HP:0009295Short middle phalanx of the 4th finger2MECOM CL E G H21223498OMIM:616738RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT24
HP:0009272HP:0009295Short middle phalanx of the 4th finger2NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122


Genes (5) :COL2A1 GDF5 MECOM NOG TBX3

Diseases (5) :OMIM:271700 OMIM:615072 OMIM:616738 OMIM:186500 OMIM:181450
 

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