Human Phenotype Ontology 
Grandparent Node:
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Abnormal 5th finger phalanx morphology (HP:0004213)help
Grandparent Node:
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Aplasia/Hypoplasia of the phalanges of the hand (HP:0009767)help
Parent Node:
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Abnormality of the proximal phalanx of the 5th finger (HP:0009150)help
Parent Node:
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Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)help
..Starting node
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Aplasia/Hypoplasia of the proximal phalanx of the 5th finger (HP:0009192)help
Term ID: 9192
Name: Aplasia/Hypoplasia of the proximal phalanx of the 5th finger
Synonym: Absent/small innermost little finger bone; Absent/small innermost pinkie finger bone; Absent/small innermost pinky finger bone; Absent/underdeveloped innermost pinky finger bone
Definition: Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger.
Comments:
Reference: HP:0009192
Genes and Diseases:
 
       Child Nodes:
........expandAplasia of the proximal phalanx of the 5th finger (HP:0009225) help
........expandShort proximal phalanx of the 5th finger (HP:0009226) help

 Sister Nodes: 
..expandAplasia/Hypoplasia of the distal phalanx of the 5th finger (HP:0009239) help
..expandAplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161) 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:0009192HP:0009192Aplasia/Hypoplasia of the proximal phalanx of the 5th finger0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndrome
HP:0009192HP:0009225Aplasia of the proximal phalanx of the 5th finger1 CL E G H
HP:0009192HP:0009226Short proximal phalanx of the 5th finger1KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040283 - Occasional


Genes (1) :KIF15

Diseases (1) :ORPHA:261323
 

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