Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal foot morphology (HP:0001760)help
Grandparent Node:
expand
Abnormal lower limb bone morphology (HP:0040069)help
Parent Node:
expand
Abnormal metatarsal morphology (HP:0001832)help
..Starting node
..expand
Broad metatarsal (HP:0001783)help
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:
........expandBroad first metatarsal (HP:0010068) help

 Sister Nodes: 
..expandAbnormal metatarsal ossification (HP:0008371) help
..expandAbnormality of metatarsal epiphysis (HP:0010630) help
..expandAbnormality of the fifth metatarsal bone (HP:0008089) help
..expandAbnormality of the first metatarsal bone (HP:0010054) help
..expandAbnormality of the fourth metatarsal bone (HP:0040035) help
..expandAbnormality of the second metatarsal bone (HP:0040034) help
..expandAbnormality of the third metatarsal bone (HP:0010672) help
..expandAplasia/Hypoplasia of metatarsal bones (HP:0001964) help
..expandDistal tapering of metatarsals (HP:0008133) help
..expandDuplication of metatarsal bones (HP:0001449) help
..expandExpanded metatarsals with widened medullary cavities (HP:0008102) help
..expandFlattened metatarsal heads (HP:0005194) help
..expandMetatarsal diaphyseal endosteal sclerosis (HP:0008114) help
..expandMetatarsal osteolysis (HP:0001473) help
..expandMetatarsal periosteal thickening (HP:0008074) help
..expandMetatarsal synostosis (HP:0001440) help
..expandMetatarsus adductus (HP:0001840) help
..expandMetatarsus valgus (HP:0010508) help
..expandOsteoporotic metatarsal (HP:0004699) help
..expandSecond metatarsal posteriorly placed (HP:0008125) help
..expandThin metatarsal cortices (HP:0008078) help
..expandY-shaped metatarsals (HP:0010567) 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:0001783HP:0001783Broad metatarsal0ABCC9 CL E G H1006060OMIM:239850Hypertrichotic osteochondrodysplasia254
HP:0001783HP:0001783Broad metatarsal0ADAMTS10 CL E G H8179413201OMIM:277600Weill-Marchesani syndrome 1.63
HP:0001783HP:0001783Broad metatarsal0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0001783HP:0001783Broad metatarsal0FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant.1361
HP:0001783HP:0001783Broad metatarsal0FGFR1 CL E G H22603688OMIM:123150Jackson-Weiss syndrome.172
HP:0001783HP:0001783Broad metatarsal0FGFR1 CL E G H22603688OMIM:166250Osteoglophonic dysplasia.172
HP:0001783HP:0001783Broad metatarsal0FGFR2 CL E G H22633689OMIM:123150Jackson-Weiss syndrome.175
HP:0001783HP:0001783Broad metatarsal0FGFR2 CL E G H22633689ORPHA:1540Jackson-Weiss syndromeHP:0040281 - Very frequent175
HP:0001783HP:0001783Broad metatarsal0MMP2 CL E G H43137166OMIM:259600Multicentric osteolysis, nodulosis, and arthropathy.64
HP:0001783HP:0001783Broad metatarsal0NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2101
HP:0001783HP:0001783Broad metatarsal0NPR2 CL E G H48827944OMIM:602875Acromesomelic dysplasia, Maroteaux type.53
HP:0001783HP:0001783Broad metatarsal0PDE4D CL E G H51448783ORPHA:439822PDE4D haploinsufficiency syndromeHP:0040281 - Very frequent113
HP:0001783HP:0001783Broad metatarsal0PTH1R CL E G H57459608OMIM:600002Eiken syndrome58
HP:0001783HP:0001783Broad metatarsal0RAB33B CL E G H8345216075OMIM:615222Smith-Mccort dysplasia 2.53
HP:0001783HP:0001783Broad metatarsal0TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001783HP:0010068Broad first metatarsal1ABCC9 CL E G H1006060OMIM:239850Hypertrichotic osteochondrodysplasia.254
HP:0001783HP:0010068Broad first metatarsal1CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 1.85
HP:0001783HP:0010068Broad first metatarsal1NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2HP:0040282 - Frequent101
HP:0001783HP:0010068Broad first metatarsal1TTC26 CL E G H7998921882OMIM:619534BILIARY, 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.