Human Phenotype Ontology 
Grandparent Node:
expandAbnormal finger phalanx morphology (HP:0005918)help
Parent Node:
expandAbnormal 4th finger phalanx morphology (HP:0009172)help
Parent Node:
expandAplasia/Hypoplasia of the phalanges of the hand (HP:0009767)help
..Starting node
..expandAplasia/Hypoplasia of the phalanges of the 4th finger (HP:0009408)help
Term ID: 9408
Name: Aplasia/Hypoplasia of the phalanges of the 4th finger
Synonym: Absent/small ring finger bones; Absent/underdeveloped ring finger bones
Definition:
Comments:
Reference: HP:0009408
Genes and Diseases:
 
       Child Nodes:
........expandAplasia/Hypoplasia of the distal phalanx of the 4th finger (HP:0009289) help
................... HP:0009290 Short distal phalanx of the 4th finger
................... HP:0009291 Aplasia of the distal phalanx of the 4th finger
........expandAplasia/Hypoplasia of the middle phalanx of the 4th finger (HP:0009299) help
................... HP:0009294 Absent middle phalanx of 4th finger
................... HP:0009295 Short middle phalanx of the 4th finger
........expandAplasia/Hypoplasia of the proximal phalanx of the 4th finger (HP:0009300) help
................... HP:0009298 Aplasia of the proximal phalanx of the 4th finger
................... HP:0009301 Short proximal phalanx of the 4th 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 2nd finger (HP:0009552) help
..expandAplasia/Hypoplasia of the phalanges of the 3rd finger (HP:0009447) 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:0009408HP:0009408Aplasia/Hypoplasia of the phalanges of the 4th finger0COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia284
HP:0009408HP:0009408Aplasia/Hypoplasia of the phalanges of the 4th finger0GDF5 CL E G H82004220OMIM:615072Brachydactyly, type A1, C52
HP:0009408HP:0009408Aplasia/Hypoplasia of the phalanges of the 4th finger0MECOM CL E G H21223498OMIM:616738RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT24
HP:0009408HP:0009408Aplasia/Hypoplasia of the phalanges of the 4th finger0NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0009408HP:0009300Aplasia/Hypoplasia of the proximal phalanx of the 4th finger1 CL E G H
HP:0009408HP:0009289Aplasia/Hypoplasia of the distal phalanx of the 4th finger1COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia284
HP:0009408HP:0009299Aplasia/Hypoplasia of the middle phalanx of the 4th finger1GDF5 CL E G H82004220OMIM:615072Brachydactyly, type A1, C52
HP:0009408HP:0009299Aplasia/Hypoplasia of the middle phalanx of the 4th finger1MECOM CL E G H21223498OMIM:616738RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT24
HP:0009408HP:0009299Aplasia/Hypoplasia of the middle phalanx of the 4th finger1NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0009408HP:0009294Absent middle phalanx of 4th finger2 CL E G H
HP:0009408HP:0009291Aplasia of the distal phalanx of the 4th finger2 CL E G H
HP:0009408HP:0009301Short proximal phalanx of the 4th finger2 CL E G H
HP:0009408HP:0009298Aplasia of the proximal phalanx of the 4th finger2 CL E G H
HP:0009408HP:0009290Short distal phalanx of the 4th finger2COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia.284
HP:0009408HP:0009295Short middle phalanx of the 4th finger2GDF5 CL E G H82004220OMIM:615072Brachydactyly, type A1, C52
HP:0009408HP:0009295Short middle phalanx of the 4th finger2MECOM CL E G H21223498OMIM:616738RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT24
HP:0009408HP:0009295Short middle phalanx of the 4th finger2NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122


Genes (4) :COL2A1 GDF5 MECOM NOG

Diseases (4) :OMIM:271700 OMIM:615072 OMIM:616738 OMIM:186500
 

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