Term ID: |
1783 |
Name: |
Broad metatarsal |
Synonym: |
Broad metatarsals; Wide long bone of foot; Widened metatarsal shaft |
Definition: |
Increased side-to-side width of a metatarsal bone. |
Comments: |
|
Reference: |
HP:0001783 |
Genes and Diseases: | |
Child Nodes: |
........Broad first metatarsal (HP:0010068) |
Sister Nodes: |
..Abnormal metatarsal ossification (HP:0008371)
|
..Abnormality of metatarsal epiphysis (HP:0010630)
|
..Abnormality of the fifth metatarsal bone (HP:0008089)
|
..Abnormality of the first metatarsal bone (HP:0010054)
|
..Abnormality of the fourth metatarsal bone (HP:0040035)
|
..Abnormality of the second metatarsal bone (HP:0040034)
|
..Abnormality of the third metatarsal bone (HP:0010672)
|
..Aplasia/Hypoplasia of metatarsal bones (HP:0001964)
|
..Distal tapering of metatarsals (HP:0008133)
|
..Duplication of metatarsal bones (HP:0001449)
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..Expanded metatarsals with widened medullary cavities (HP:0008102)
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..Flattened metatarsal heads (HP:0005194)
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..Metatarsal diaphyseal endosteal sclerosis (HP:0008114)
|
..Metatarsal osteolysis (HP:0001473)
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..Metatarsal periosteal thickening (HP:0008074)
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..Metatarsal synostosis (HP:0001440)
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..Metatarsus adductus (HP:0001840)
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..Metatarsus valgus (HP:0010508)
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..Osteoporotic metatarsal (HP:0004699)
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..Second metatarsal posteriorly placed (HP:0008125)
|
..Thin metatarsal cortices (HP:0008078)
|
..Y-shaped metatarsals (HP:0010567)
|
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:0001783 | HP:0001783 | Broad metatarsal | 0 | ABCC9 CL E G H | 10060 | 60 | OMIM:239850 | Hypertrichotic osteochondrodysplasia | | | | 254 | | | HP:0001783 | HP:0001783 | Broad metatarsal | 0 | ADAMTS10 CL E G H | 81794 | 13201 | OMIM:277600 | Weill-Marchesani syndrome 1 | . | | | 63 | | | HP:0001783 | HP:0001783 | Broad metatarsal | 0 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | | HP:0001783 | HP:0001783 | Broad metatarsal | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:608328 | Weill-Marchesani syndrome 2, dominant | . | | | 1361 | | | HP:0001783 | HP:0001783 | Broad metatarsal | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:123150 | Jackson-Weiss syndrome | . | | | 172 | | | HP:0001783 | HP:0001783 | Broad metatarsal | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:166250 | Osteoglophonic dysplasia | . | | | 172 | | | HP:0001783 | HP:0001783 | Broad metatarsal | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123150 | Jackson-Weiss syndrome | . | | | 175 | | | HP:0001783 | HP:0001783 | Broad metatarsal | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1540 | Jackson-Weiss syndrome | HP:0040281 - Very frequent | | | 175 | | | HP:0001783 | HP:0001783 | Broad metatarsal | 0 | MMP2 CL E G H | 4313 | 7166 | OMIM:259600 | Multicentric osteolysis, nodulosis, and arthropathy | . | | | 64 | | | HP:0001783 | HP:0001783 | Broad metatarsal | 0 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | | | | 101 | | | HP:0001783 | HP:0001783 | Broad metatarsal | 0 | NPR2 CL E G H | 4882 | 7944 | OMIM:602875 | Acromesomelic dysplasia, Maroteaux type | . | | | 53 | | | HP:0001783 | HP:0001783 | Broad metatarsal | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:439822 | PDE4D haploinsufficiency syndrome | HP:0040281 - Very frequent | | | 113 | | | HP:0001783 | HP:0001783 | Broad metatarsal | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:600002 | Eiken syndrome | | | | 58 | | | HP:0001783 | HP:0001783 | Broad metatarsal | 0 | RAB33B CL E G H | 83452 | 16075 | OMIM:615222 | Smith-Mccort dysplasia 2 | . | | | 53 | | | HP:0001783 | HP:0001783 | Broad metatarsal | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | | HP:0001783 | HP:0010068 | Broad first metatarsal | 1 | ABCC9 CL E G H | 10060 | 60 | OMIM:239850 | Hypertrichotic osteochondrodysplasia | . | | | 254 | | | HP:0001783 | HP:0010068 | Broad first metatarsal | 1 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | . | | | 85 | | | HP:0001783 | HP:0010068 | Broad first metatarsal | 1 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | HP:0040282 - Frequent | | | 101 | | | HP:0001783 | HP:0010068 | Broad first metatarsal | 1 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
Genes (13) :ABCC9 ADAMTS10 CANT1 FBN1 FGFR1 FGFR2 MMP2 NEK1 NPR2 PDE4D PTH1R RAB33B TTC26
Diseases (14) :OMIM:239850 OMIM:277600 OMIM:251450 OMIM:608328 OMIM:123150 OMIM:166250 ORPHA:1540 OMIM:259600 ORPHA:2751 OMIM:602875 ORPHA:439822 OMIM:600002 OMIM:615222 OMIM:619534 |
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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