Human Phenotype Ontology 
Grandparent Node:
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Aplasia/Hypoplasia of the proximal phalanges of the hand (HP:0009851)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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Short proximal phalanx of finger (HP:0010241)help
..Starting node
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Shortening of all proximal phalanges of the fingers (HP:0006144)help
Term ID: 6144
Name: Shortening of all proximal phalanges of the fingers
Synonym: Shortening of all innermost bones of the fingers
Definition: Congenital hypoplasia of proximal phalanx of finger or all fingers.
Comments:
Reference: HP:0006144
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandShort proximal phalanx of the 2nd finger (HP:0009597) help
..expandShort proximal phalanx of the 3rd finger (HP:0009459) help
..expandShort proximal phalanx of the 4th finger (HP:0009301) help
..expandShort proximal phalanx of the 5th finger (HP:0009226) 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:0006144HP:0006144Shortening of all proximal phalanges of the fingers0COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia.284
HP:0006144HP:0006144Shortening of all proximal phalanges of the fingers0GDF5 CL E G H82004220OMIM:201250Acromesomelic dysplasia, Hunter-Thompson type.52


Genes (2) :COL2A1 GDF5

Diseases (2) :OMIM:271700 OMIM:201250
 

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