Term ID: |
31367 |
Name: |
Metaphyseal striations |
Synonym: |
Striated metaphysis |
Definition: |
Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis). |
Comments: |
|
Reference: |
HP:0031367 |
Genes and Diseases: | |
Child Nodes: |
........Osteopathia striata (HP:0010740) |
........Growth arrest lines (HP:0031164) |
Sister Nodes: |
..Abnormal lower-limb metaphysis morphology (HP:0006490)
|
..Abnormal metaphyseal trabeculation (HP:0005089)
|
..Abnormal metaphyseal vascular invasion (HP:0003562)
|
..Abnormal upper limb metaphysis morphology (HP:0009809)
|
..Alternating radiolucent and radiodense metaphyseal lines (HP:0031016)
|
..Corner fracture of metaphysis (HP:0003908)
|
..Dense metaphyseal bands (HP:0100959)
|
..Dumbbell-shaped metaphyses (HP:0002810)
|
..Enlarged metaphyses (HP:0003051)
|
..Metaphyseal cupping (HP:0003021)
|
..Metaphyseal dysplasia (HP:0100255)
|
..Metaphyseal enchondromatosis (HP:0005868)
|
..Metaphyseal irregularity (HP:0003025)
|
..Metaphyseal rarefaction (HP:0004980)
|
..Metaphyseal sclerosis (HP:0004979)
|
..Metaphyseal spurs (HP:0005054)
|
..Metaphyseal widening (HP:0003016)
|
..obsolete Metaphyseal dysostosis (HP:0005899)
|
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:0031367 | HP:0031367 | Metaphyseal striations | 0 | ADA CL E G H | 100 | 186 | OMIM:102700 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | | | | 75 | | | HP:0031367 | HP:0031367 | Metaphyseal striations | 0 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | | | | 34 | | | HP:0031367 | HP:0031367 | Metaphyseal striations | 0 | ANAPC1 CL E G H | 64682 | 19988 | ORPHA:221008 | Rothmund-Thomson syndrome type 1 | HP:0040283 - Occasional | | | 2 | | | HP:0031367 | HP:0031367 | Metaphyseal striations | 0 | KIF22 CL E G H | 3835 | 6391 | ORPHA:93360 | Spondyloepimetaphyseal dysplasia with multiple dislocations | HP:0040282 - Frequent | | | 14 | | | HP:0031367 | HP:0031367 | Metaphyseal striations | 0 | MTAP CL E G H | 4507 | 7413 | OMIM:112250 | Diaphyseal medullary stenosis with malignant fibrous histiocytoma | . | | | 85 | | | HP:0031367 | HP:0031367 | Metaphyseal striations | 0 | PISD CL E G H | 23761 | 8999 | OMIM:618889 | LIBERFARB SYNDROME; LIBF | | | | 1 | | | HP:0031367 | HP:0031367 | Metaphyseal striations | 0 | POLE CL E G H | 5426 | 9177 | OMIM:615139 | Facial dysmorphism, immunodeficiency, livedo, and short stature | | | | 1129 | | | HP:0031367 | HP:0031367 | Metaphyseal striations | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | | | | 20 | | | HP:0031367 | HP:0031367 | Metaphyseal striations | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | | | | 135 | | | HP:0031367 | HP:0031367 | Metaphyseal striations | 0 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:221016 | Rothmund-Thomson syndrome type 2 | HP:0040283 - Occasional | | | 445 | | | HP:0031367 | HP:0031367 | Metaphyseal striations | 0 | RMRP CL E G H | 6023 | 10031 | OMIM:250460 | Metaphyseal dysplasia without hypotrichosis | | | | 37 | | | HP:0031367 | HP:0031367 | Metaphyseal striations | 0 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | HP:0040282 - Frequent | | | | | | HP:0031367 | HP:0031367 | Metaphyseal striations | 0 | TONSL CL E G H | 4796 | 7801 | OMIM:271510 | Spondyloepimetaphyseal dysplasia, Sponastrime type | . | | | | | | HP:0031367 | HP:0031367 | Metaphyseal striations | 0 | WDR26 CL E G H | 80232 | 21208 | ORPHA:513456 | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | | | | 8 | | | HP:0031367 | HP:0031164 | Growth arrest lines | 1 | ADA CL E G H | 100 | 186 | OMIM:102700 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | . | | | 75 | | | HP:0031367 | HP:0010740 | Osteopathia striata | 1 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | . | | | 34 | | | HP:0031367 | HP:0010740 | Osteopathia striata | 1 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | | HP:0031367 | HP:0010740 | Osteopathia striata | 1 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | | | | 135 | | | HP:0031367 | HP:0010740 | Osteopathia striata | 1 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | HP:0040283 - Occasional | | | | | | HP:0031367 | HP:0010740 | Osteopathia striata | 1 | WDR26 CL E G H | 80232 | 21208 | ORPHA:513456 | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 8 | | |
Genes (13) :ADA AMER1 ANAPC1 KIF22 MTAP PISD POLE PORCN RAB3GAP2 RECQL4 RMRP TONSL WDR26
Diseases (14) :OMIM:102700 OMIM:300373 ORPHA:221008 ORPHA:93360 OMIM:112250 OMIM:618889 OMIM:615139 OMIM:305600 OMIM:212720 ORPHA:221016 OMIM:250460 ORPHA:93357 OMIM:271510 ORPHA:513456 |
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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