Human Phenotype Ontology 
Grandparent Node:
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Abnormal long bone morphology (HP:0011314)help
Grandparent Node:
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Aplasia/hypoplasia of the extremities (HP:0009815)help
Parent Node:
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Aplasia/hypoplasia involving bones of the upper limbs (HP:0006496)help
Parent Node:
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Phocomelia (HP:0009829)help
..Starting node
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Upper limb phocomelia (HP:0009813)help
Term ID: 9813
Name: Upper limb phocomelia
Synonym:
Definition: Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).
Comments:
Reference: HP:0009813
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandLower limb phocomelia (HP:0009819) help
..expandTetraphocomelia (HP:0030721) 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:0009813HP:0009813Upper limb phocomelia0LMBR1 CL E G H6432713243ORPHA:931AcheiropodiaHP:0040281 - Very frequent106


Genes (1) :LMBR1

Diseases (1) :ORPHA:931
 

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