Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the musculature (HP:0003011)help
Parent Node:
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Abnormal morphology of the pelvis musculature (HP:0001469)help
..Starting node
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Aplasia/Hypoplasia of the musculature of the pelvis (HP:0001471)help
Term ID: 1471
Name: Aplasia/Hypoplasia of the musculature of the pelvis
Synonym: Absent/small pelvis muscles; Absent/underdeveloped pelvis muscles
Definition:
Comments:
Reference: HP:0001471
Genes and Diseases:
 
       Child Nodes:
........expandPelvic girdle muscle atrophy (HP:0008988) help
................... HP:0003665 Amyotrophy of the musculature of the pelvis
........expandCongenital absence of gluteal muscles (HP:0009013) help
........expandAplasia of the musculature of the pelvis (HP:0500024) help
........expandHypoplasia of the musculature of the pelvis (HP:0500026) help

 Sister Nodes: 
..expandAbnormality of the gluteal musculature (HP:0001443) help
..expandAbnormality of the hip-girdle musculature (HP:0001445) 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:0001471HP:0001471Aplasia/Hypoplasia of the musculature of the pelvis0ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12304
HP:0001471HP:0001471Aplasia/Hypoplasia of the musculature of the pelvis0LMNA CL E G H40006636ORPHA:98856Charcot-Marie-Tooth disease type 2B1645
HP:0001471HP:0001471Aplasia/Hypoplasia of the musculature of the pelvis0SGCB CL E G H644310806OMIM:604286Muscular dystrophy, limb-girdle, type 2E113
HP:0001471HP:0001471Aplasia/Hypoplasia of the musculature of the pelvis0TRIM32 CL E G H2295416380OMIM:254110Muscular dystrophy, limb-girdle, type 2H108
HP:0001471HP:0001471Aplasia/Hypoplasia of the musculature of the pelvis0VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 163
HP:0001471HP:0500026Hypoplasia of the musculature of the pelvis1 CL E G H
HP:0001471HP:0500024Aplasia of the musculature of the pelvis1 CL E G H
HP:0001471HP:0009013Congenital absence of gluteal muscles1 CL E G H
HP:0001471HP:0008988Pelvic girdle muscle atrophy1ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12HP:0040282 - Frequent304
HP:0001471HP:0008988Pelvic girdle muscle atrophy1LMNA CL E G H40006636ORPHA:98856Charcot-Marie-Tooth disease type 2B1645
HP:0001471HP:0008988Pelvic girdle muscle atrophy1SGCB CL E G H644310806OMIM:604286Muscular dystrophy, limb-girdle, type 2E.113
HP:0001471HP:0008988Pelvic girdle muscle atrophy1TRIM32 CL E G H2295416380OMIM:254110Muscular dystrophy, limb-girdle, type 2H.108
HP:0001471HP:0008988Pelvic girdle muscle atrophy1VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1.63
HP:0001471HP:0003665Amyotrophy of the musculature of the pelvis2 CL E G H


Genes (5) :ANO5 LMNA SGCB TRIM32 VCP

Diseases (5) :ORPHA:206549 ORPHA:98856 OMIM:604286 OMIM:254110 OMIM:167320
 

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