Human Phenotype Ontology 
Grandparent Node:
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Aplasia/Hypoplasia of the distal phalanges of the hand (HP:0009835)help
Grandparent Node:
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Short finger (HP:0009381)help
Grandparent Node:
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Short phalanx of finger (HP:0009803)help
Parent Node:
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Aplasia/Hypoplasia of the distal phalanx of the 3rd finger (HP:0009421)help
Parent Node:
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Short 3rd finger (HP:0009461)help
Parent Node:
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Short distal phalanx of finger (HP:0009882)help
..Starting node
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Short distal phalanx of the 3rd finger (HP:0004180)help
Term ID: 4180
Name: Short distal phalanx of the 3rd finger
Synonym: Hypoplastic/small distal phalanx of the 3rd finger; Short distal phalanx of the third finger; Short outermost bone of the middle finger; Short terminal phalanx of middle finger
Definition: Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger.
Comments:
Reference: HP:0004180
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandShort distal phalanx of the 2nd finger (HP:0009566) help
..expandShort distal phalanx of the 4th finger (HP:0009290) help
..expandShort distal phalanx of the 5th finger (HP:0004227) help
..expandShort distal phalanx of the thumb (HP:0009650) help
..expandShortening of all distal phalanges of the fingers (HP:0006118) 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:0004180HP:0004180Short distal phalanx of the 3rd finger0COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia.284
HP:0004180HP:0004180Short distal phalanx of the 3rd finger0GNAS CL E G H27784392ORPHA:79445PseudopseudohypoparathyroidismHP:0040283 - Occasional101


Genes (2) :COL2A1 GNAS

Diseases (2) :OMIM:271700 ORPHA:79445
 

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