| Term ID: |
9850 |
| Name: |
Triangular shaped middle phalanges of the hand |
| Synonym: |
Triangular shaped middle finger bones of the hand |
| Definition: |
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| Comments: |
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| Reference: |
HP:0009850 |
| Genes and Diseases: | |
Child Nodes: |
........ Triangular shaped middle phalanx of the 5th finger (HP:0009182) 
................... HP:0005910 Rhomboid or triangular shaped 5th finger middle phalanx |
........Triangular shaped middle phalanx of the 4th finger (HP:0009309)
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........Triangular shaped middle phalanx of the 3rd finger (HP:0009436)
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........Triangular shaped middle phalanx of the 2nd finger (HP:0009575)
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........Triangular shaped proximal phalanx of the thumb (HP:0009636)
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Sister Nodes: |
..Abnormality of the phalanges of the 2nd finger (HP:0009541)
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..Abnormality of thumb phalanx (HP:0009602)
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..Triangular shaped distal phalanges of the hand (HP:0009875)
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..Triangular shaped phalanges of the 3rd finger (HP:0009446)
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..Triangular shaped phalanges of the 4th finger (HP:0009407)
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..Triangular shaped phalanges of the 5th finger (HP:0009378)
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..Triangular shaped proximal phalanges of the hand (HP:0009858)
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| 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:0009850 | HP:0009850 | Triangular shaped middle phalanges of the hand | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:112600 | Brachydactyly, type A2 | | | | 13 | | | | HP:0009850 | HP:0009850 | Triangular shaped middle phalanges of the hand | 0 | BMPR1B CL E G H | 658 | 1077 | OMIM:112600 | Brachydactyly, type A2 | | | | 90 | | | | HP:0009850 | HP:0009850 | Triangular shaped middle phalanges of the hand | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:112600 | Brachydactyly, type A2 | | | | 52 | | | | HP:0009850 | HP:0009850 | Triangular shaped middle phalanges of the hand | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:113100 | Brachydactyly, type C | | | | 52 | | | | HP:0009850 | HP:0009309 | Triangular shaped middle phalanx of the 4th finger | 1 | CL E G H | | | | | | | | | | | | HP:0009850 | HP:0009636 | Triangular shaped proximal phalanx of the thumb | 1 | CL E G H | | | | | | | | | | | | HP:0009850 | HP:0009575 | Triangular shaped middle phalanx of the 2nd finger | 1 | BMP2 CL E G H | 650 | 1069 | OMIM:112600 | Brachydactyly, type A2 | | | | 13 | | | | HP:0009850 | HP:0009182 | Triangular shaped middle phalanx of the 5th finger | 1 | BMP2 CL E G H | 650 | 1069 | OMIM:112600 | Brachydactyly, type A2 | | | | 13 | | | | HP:0009850 | HP:0009182 | Triangular shaped middle phalanx of the 5th finger | 1 | BMPR1B CL E G H | 658 | 1077 | OMIM:112600 | Brachydactyly, type A2 | | | | 90 | | | | HP:0009850 | HP:0009575 | Triangular shaped middle phalanx of the 2nd finger | 1 | BMPR1B CL E G H | 658 | 1077 | OMIM:112600 | Brachydactyly, type A2 | | | | 90 | | | | HP:0009850 | HP:0009575 | Triangular shaped middle phalanx of the 2nd finger | 1 | GDF5 CL E G H | 8200 | 4220 | OMIM:112600 | Brachydactyly, type A2 | | | | 52 | | | | HP:0009850 | HP:0009182 | Triangular shaped middle phalanx of the 5th finger | 1 | GDF5 CL E G H | 8200 | 4220 | OMIM:112600 | Brachydactyly, type A2 | | | | 52 | | | | HP:0009850 | HP:0009575 | Triangular shaped middle phalanx of the 2nd finger | 1 | GDF5 CL E G H | 8200 | 4220 | OMIM:113100 | Brachydactyly, type C | HP:0040282 - Frequent | | | 52 | | | | HP:0009850 | HP:0009436 | Triangular shaped middle phalanx of the 3rd finger | 1 | GDF5 CL E G H | 8200 | 4220 | OMIM:113100 | Brachydactyly, type C | HP:0040282 - Frequent | | | 52 | | | | HP:0009850 | HP:0005910 | Rhomboid or triangular shaped 5th finger middle phalanx | 2 | CL E G H | | | | | | | | | | |
Genes (3) :BMP2 BMPR1B GDF5
Diseases (2) :OMIM:112600 OMIM:113100 |
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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