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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Aplasia/hypoplasia of the extremities (HP:0009815)help
..Starting node
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Amelia (HP:0009827)help
Term ID: 9827
Name: Amelia
Synonym:
Definition: Congenital absence (aplasia) of one or more limbs.
Comments:
Reference: HP:0009827
Genes and Diseases:
 
       Child Nodes:
........expandTetraamelia (HP:0003057) help
........expandAmelia involving the upper limbs (HP:0009812) help
........expandAmelia involving the lower limbs (HP:0009818) help

 Sister Nodes: 
..expandAcromelia (HP:0010884) help
..expandAplasia/hypoplasia involving bones of the extremities (HP:0045060) help
..expandLimb undergrowth (HP:0009826) help
..expandPeromelia (HP:0009828) help
..expandPhocomelia (HP:0009829) 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:0009827HP:0009827Amelia0CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndrome2
HP:0009827HP:0009827Amelia0RSPO2 CL E G H34041928583OMIM:618021Tetraamelia syndrome 2
HP:0009827HP:0009827Amelia0RSPO2 CL E G H34041928583ORPHA:3301Tetraamelia-multiple malformations syndrome
HP:0009827HP:0009827Amelia0TBX4 CL E G H949611603OMIM:601360Amelia, autosomal recessive.55
HP:0009827HP:0009827Amelia0WNT3 CL E G H747312782OMIM:273395Tetraamelia, autosomal recessive12
HP:0009827HP:0009827Amelia0WNT3 CL E G H747312782ORPHA:3301Tetraamelia-multiple malformations syndrome12
HP:0009827HP:0009812Amelia involving the upper limbs1 CL E G H
HP:0009827HP:0009818Amelia involving the lower limbs1CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndromeHP:0040284 - Very rare2
HP:0009827HP:0003057Tetraamelia1RSPO2 CL E G H34041928583ORPHA:3301Tetraamelia-multiple malformations syndromeHP:0040281 - Very frequent
HP:0009827HP:0003057Tetraamelia1WNT3 CL E G H747312782OMIM:273395Tetraamelia, autosomal recessive.12
HP:0009827HP:0003057Tetraamelia1WNT3 CL E G H747312782ORPHA:3301Tetraamelia-multiple malformations syndromeHP:0040281 - Very frequent12


Genes (4) :CDH11 RSPO2 TBX4 WNT3

Diseases (5) :ORPHA:1299 OMIM:618021 ORPHA:3301 OMIM:601360 OMIM:273395
 

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