Human Phenotype Ontology 
Grandparent Node:
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Abnormality of limbs (HP:0040064)help
Grandparent Node:
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Aplasia/hypoplasia involving the skeleton (HP:0009115)help
Parent Node:
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Abnormal long bone morphology (HP:0011314)help
Parent Node:
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Aplasia/hypoplasia of the extremities (HP:0009815)help
..Starting node
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Phocomelia (HP:0009829)help
Term ID: 9829
Name: Phocomelia
Synonym:
Definition: Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).
Comments:
Reference: HP:0009829
Genes and Diseases:
 
       Child Nodes:
........expandUpper limb phocomelia (HP:0009813) help
........expandLower limb phocomelia (HP:0009819) help
........expandTetraphocomelia (HP:0030721) help

 Sister Nodes: 
..expandAcromelia (HP:0010884) help
..expandAmelia (HP:0009827) help
..expandAplasia/hypoplasia involving bones of the extremities (HP:0045060) help
..expandLimb undergrowth (HP:0009826) help
..expandPeromelia (HP:0009828) 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:0009829HP:0009829Phocomelia0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040281 - Very frequent92
HP:0009829HP:0009829Phocomelia0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0009829HP:0009829Phocomelia0LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0009829HP:0009829Phocomelia0LMBR1 CL E G H6432713243ORPHA:931Acheiropodia106
HP:0009829HP:0009829Phocomelia0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0009829HP:0009829Phocomelia0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0009829HP:0009829Phocomelia0RBM8A CL E G H99399905ORPHA:3320Thrombocytopenia-absent radius syndromeHP:0040283 - Occasional10
HP:0009829HP:0009829Phocomelia0SF3B4 CL E G H1026210771ORPHA:245Nager syndromeHP:0040283 - Occasional49
HP:0009829HP:0009829Phocomelia0TBX5 CL E G H691011604OMIM:142900Holt-Oram syndrome.123
HP:0009829HP:0009829Phocomelia0TBX5 CL E G H691011604ORPHA:392Holt-Oram syndromeHP:0040283 - Occasional123
HP:0009829HP:0009829Phocomelia0WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency13
HP:0009829HP:0009819Lower limb phocomelia1 CL E G H
HP:0009829HP:0030721Tetraphocomelia1ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0009829HP:0030721Tetraphocomelia1LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0009829HP:0009813Upper limb phocomelia1LMBR1 CL E G H6432713243ORPHA:931AcheiropodiaHP:0040281 - Very frequent106


Genes (8) :ESCO2 LBR LMBR1 NIPBL RBM8A SF3B4 TBX5 WNT7A

Diseases (11) :ORPHA:3103 OMIM:268300 OMIM:215140 ORPHA:931 OMIM:122470 OMIM:274000 ORPHA:3320 ORPHA:245 OMIM:142900 ORPHA:392 OMIM:276820
 

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