| Term ID: |
1469 |
| Name: |
Abnormal morphology of the pelvis musculature |
| Synonym: |
Abnormality of the musculature of the pelvis |
| Definition: |
|
| Comments: |
|
| Reference: |
HP:0001469 |
| Genes and Diseases: | |
Child Nodes: |
........ Abnormality of the gluteal musculature (HP:0001443) 
................... HP:0009013 Congenital absence of gluteal muscles |
........Abnormality of the hip-girdle musculature (HP:0001445)
................... HP:0003749 Pelvic girdle muscle weakness
................... HP:0008988 Pelvic girdle muscle atrophy |
........Aplasia/Hypoplasia of the musculature of the pelvis (HP:0001471)
................... HP:0008988 Pelvic girdle muscle atrophy
................... HP:0009013 Congenital absence of gluteal muscles
................... HP:0500024 Aplasia of the musculature of the pelvis
................... HP:0500026 Hypoplasia of the musculature of the pelvis |
Sister Nodes: |
..Abnormal axial muscle morphology (HP:0040286)
|
..Abnormal hyoglossus muscle morphology (HP:3000051)
|
..Abnormal lateral cricoarytenoid muscle morphology (HP:3000067)
|
..Abnormal mitochondria in muscle tissue (HP:0008316)
|
..Abnormal morphology of musculature of pharynx (HP:0430015)
|
..Abnormal morphology of the abdominal musculature (HP:0010991)
|
..Abnormal morphology of the chest musculature (HP:0410167)
|
..Abnormal morphology of the musculature of the neck (HP:0011006)
|
..Abnormal morphology of the shoulder musculature (HP:0410169)
|
..Abnormal muscle physiology (HP:0011804)
|
..Abnormal skeletal muscle morphology (HP:0011805)
|
..Abnormality of facial musculature (HP:0000301)
|
..Abnormality of musculature of soft palate (HP:0430014)
|
..Abnormality of occipitofrontalis muscle (HP:0040172)
|
..Abnormality of the back musculature (HP:0410168)
|
..Abnormality of the diaphragm (HP:0000775)
|
..Abnormality of the extraocular muscles (HP:0008049)
|
..Abnormality of the musculature of the limbs (HP:0009127)
|
..Abnormality of the musculature of the thorax (HP:0009131)
|
..Abnormality of the tongue muscle (HP:0040173)
|
..Calcification of muscles (HP:0100249)
|
..Gastroparesis (HP:0002578)
|
..Increased intramuscular fat (HP:0008985)
|
..Muscle abnormality related to mitochondrial dysfunction (HP:0003800)
|
..Muscle hemorrhage (HP:0040242)
|
..Neoplasm of striated muscle (HP:0009728)
|
..obsolete Abnormality of skeletal muscles (HP:0040290)
|
| Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
|---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: | | HP:0001469 | HP:0001469 | Abnormal morphology of the pelvis musculature | 0 | ANO5 CL E G H | 203859 | 27337 | ORPHA:206549 | Anoctamin-5-related limb-girdle muscular dystrophy R12 | | | | 304 | | | | HP:0001469 | HP:0001469 | Abnormal morphology of the pelvis musculature | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98856 | Charcot-Marie-Tooth disease type 2B1 | | | | 645 | | | | HP:0001469 | HP:0001469 | Abnormal morphology of the pelvis musculature | 0 | SGCB CL E G H | 6443 | 10806 | OMIM:604286 | Muscular dystrophy, limb-girdle, type 2E | | | | 113 | | | | HP:0001469 | HP:0001469 | Abnormal morphology of the pelvis musculature | 0 | TRIM32 CL E G H | 22954 | 16380 | OMIM:254110 | Muscular dystrophy, limb-girdle, type 2H | | | | 108 | | | | HP:0001469 | HP:0001469 | Abnormal morphology of the pelvis musculature | 0 | VCP CL E G H | 7415 | 12666 | OMIM:167320 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 | | | | 63 | | | | HP:0001469 | HP:0001443 | Abnormality of the gluteal musculature | 1 | CL E G H | | | | | | | | | | | | HP:0001469 | HP:0001471 | Aplasia/Hypoplasia of the musculature of the pelvis | 1 | ANO5 CL E G H | 203859 | 27337 | ORPHA:206549 | Anoctamin-5-related limb-girdle muscular dystrophy R12 | | | | 304 | | | | HP:0001469 | HP:0001445 | Abnormality of the hip-girdle musculature | 1 | ANO5 CL E G H | 203859 | 27337 | ORPHA:206549 | Anoctamin-5-related limb-girdle muscular dystrophy R12 | | | | 304 | | | | HP:0001469 | HP:0001445 | Abnormality of the hip-girdle musculature | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:98856 | Charcot-Marie-Tooth disease type 2B1 | | | | 645 | | | | HP:0001469 | HP:0001471 | Aplasia/Hypoplasia of the musculature of the pelvis | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:98856 | Charcot-Marie-Tooth disease type 2B1 | | | | 645 | | | | HP:0001469 | HP:0001471 | Aplasia/Hypoplasia of the musculature of the pelvis | 1 | SGCB CL E G H | 6443 | 10806 | OMIM:604286 | Muscular dystrophy, limb-girdle, type 2E | | | | 113 | | | | HP:0001469 | HP:0001445 | Abnormality of the hip-girdle musculature | 1 | SGCB CL E G H | 6443 | 10806 | OMIM:604286 | Muscular dystrophy, limb-girdle, type 2E | | | | 113 | | | | HP:0001469 | HP:0001445 | Abnormality of the hip-girdle musculature | 1 | TRIM32 CL E G H | 22954 | 16380 | OMIM:254110 | Muscular dystrophy, limb-girdle, type 2H | | | | 108 | | | | HP:0001469 | HP:0001471 | Aplasia/Hypoplasia of the musculature of the pelvis | 1 | TRIM32 CL E G H | 22954 | 16380 | OMIM:254110 | Muscular dystrophy, limb-girdle, type 2H | | | | 108 | | | | HP:0001469 | HP:0001471 | Aplasia/Hypoplasia of the musculature of the pelvis | 1 | VCP CL E G H | 7415 | 12666 | OMIM:167320 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 | | | | 63 | | | | HP:0001469 | HP:0001445 | Abnormality of the hip-girdle musculature | 1 | VCP CL E G H | 7415 | 12666 | OMIM:167320 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 | | | | 63 | | | | HP:0001469 | HP:0500026 | Hypoplasia of the musculature of the pelvis | 2 | CL E G H | | | | | | | | | | | | HP:0001469 | HP:0500024 | Aplasia of the musculature of the pelvis | 2 | CL E G H | | | | | | | | | | | | HP:0001469 | HP:0009013 | Congenital absence of gluteal muscles | 2 | CL E G H | | | | | | | | | | | | HP:0001469 | HP:0008988 | Pelvic girdle muscle atrophy | 2 | ANO5 CL E G H | 203859 | 27337 | ORPHA:206549 | Anoctamin-5-related limb-girdle muscular dystrophy R12 | HP:0040282 - Frequent | | | 304 | | | | HP:0001469 | HP:0008988 | Pelvic girdle muscle atrophy | 2 | LMNA CL E G H | 4000 | 6636 | ORPHA:98856 | Charcot-Marie-Tooth disease type 2B1 | | | | 645 | | | | HP:0001469 | HP:0008988 | Pelvic girdle muscle atrophy | 2 | SGCB CL E G H | 6443 | 10806 | OMIM:604286 | Muscular dystrophy, limb-girdle, type 2E | . | | | 113 | | | | HP:0001469 | HP:0008988 | Pelvic girdle muscle atrophy | 2 | TRIM32 CL E G H | 22954 | 16380 | OMIM:254110 | Muscular dystrophy, limb-girdle, type 2H | . | | | 108 | | | | HP:0001469 | HP:0008988 | Pelvic girdle muscle atrophy | 2 | VCP CL E G H | 7415 | 12666 | OMIM:167320 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 | . | | | 63 | | | | HP:0001469 | HP:0003665 | Amyotrophy of the musculature of the pelvis | 3 | 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.
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