Human Phenotype Ontology 
Grandparent Node:
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Abnormal hip joint morphology (HP:0001384)help
Parent Node:
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Abnormal acetabulum morphology (HP:0003170)help
..Starting node
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Protrusio acetabuli (HP:0003179)help
Term ID: 3179
Name: Protrusio acetabuli
Synonym: Abnormally indented hip sockets; Protrusio acetabulae
Definition: Intrapelvic bulging of the medial acetabular wall.
Comments:
Reference: HP:0003179
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAcetabular dysplasia (HP:0008807) help
..expandAcetabular spurs (HP:0010454) help
..expandFlat acetabular roof (HP:0003180) help
..expandHypoplastic acetabulae (HP:0003274) help
..expandIrregular acetabular roof (HP:0008833) help
..expandShallow acetabular fossae (HP:0003182) help
..expandSteep acetabular roof (HP:0010455) 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:0003179HP:0003179Protrusio acetabuli0COL1A1 CL E G H12772197OMIM:259420Osteogenesis imperfecta, type III.373
HP:0003179HP:0003179Protrusio acetabuli0COL1A2 CL E G H12782198OMIM:259420Osteogenesis imperfecta, type III.243
HP:0003179HP:0003179Protrusio acetabuli0CRTAP CL E G H104912379OMIM:610682Osteogenesis imperfecta, type VII.124
HP:0003179HP:0003179Protrusio acetabuli0FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0003179HP:0003179Protrusio acetabuli0FKBP10 CL E G H6068118169OMIM:259450Bruck syndrome 1.61
HP:0003179HP:0003179Protrusio acetabuli0FKBP10 CL E G H6068118169OMIM:610968Osteogenesis imperfecta, type XI.61
HP:0003179HP:0003179Protrusio acetabuli0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040283 - Occasional345
HP:0003179HP:0003179Protrusio acetabuli0MMP2 CL E G H43137166OMIM:259600Multicentric osteolysis, nodulosis, and arthropathy.64
HP:0003179HP:0003179Protrusio acetabuli0PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1105
HP:0003179HP:0003179Protrusio acetabuli0SERPINF1 CL E G H51768824OMIM:613982Osteogenesis imperfecta, type VI.35
HP:0003179HP:0003179Protrusio acetabuli0SMAD3 CL E G H40886769ORPHA:284984Aneurysm-osteoarthritis syndromeHP:0040282 - Frequent260
HP:0003179HP:0003179Protrusio acetabuli0SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0003179HP:0003179Protrusio acetabuli0TGFB2 CL E G H704211768OMIM:614816LOEYS-DIETZ SYNDROME 4; LDS4162
HP:0003179HP:0003179Protrusio acetabuli0TGFBR2 CL E G H704811773OMIM:610168Loeys-Dietz syndrome 2253


Genes (12) :COL1A1 COL1A2 CRTAP FBN1 FKBP10 HSPG2 MMP2 PLOD1 SERPINF1 SMAD3 TGFB2 TGFBR2

Diseases (13) :OMIM:259420 OMIM:610682 OMIM:154700 OMIM:259450 OMIM:610968 ORPHA:800 OMIM:259600 OMIM:225400 OMIM:613982 ORPHA:284984 OMIM:613795 OMIM:614816 OMIM:610168
 

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