Human Phenotype Ontology 
Grandparent Node:
expandAbnormal foot morphology (HP:0001760)help
Grandparent Node:
expandAbnormal lower limb bone morphology (HP:0040069)help
Parent Node:
expandAbnormal metatarsal morphology (HP:0001832)help
..Starting node
..expandAbnormality of the fifth metatarsal bone (HP:0008089)help
Term ID: 8089
Name: Abnormality of the fifth metatarsal bone
Synonym: Abnormality of the 5th long bone of foot
Definition: An anomaly of the fifth metatarsal bone.
Comments:
Reference: HP:0008089
Genes and Diseases:
 
       Child Nodes:
........expandShort fifth metatarsal (HP:0004704) help
........expandAplasia/Hypoplasia of the fifth metatarsal bone (HP:0040033) help

 Sister Nodes: 
..expandAbnormal metatarsal ossification (HP:0008371) help
..expandAbnormality of metatarsal epiphysis (HP:0010630) 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
..expandBroad metatarsal (HP:0001783) 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:0008089HP:0008089Abnormality of the fifth metatarsal bone0CDC42BPB CL E G H95781738OMIM:619841
HP:0008089HP:0008089Abnormality of the fifth metatarsal bone0FLNA CL E G H23163754OMIM:311300Otopalatodigital syndrome, type I.493
HP:0008089HP:0008089Abnormality of the fifth metatarsal bone0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:0008089HP:0008089Abnormality of the fifth metatarsal bone0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1C101
HP:0008089HP:0008089Abnormality of the fifth metatarsal bone0HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0008089HP:0008089Abnormality of the fifth metatarsal bone0HOXD13 CL E G H32395136ORPHA:93409Brachydactyly-syndactyly, Zhao type25
HP:0008089HP:0008089Abnormality of the fifth metatarsal bone0RIPK4 CL E G H54101496ORPHA:1401CHAND syndrome69
HP:0008089HP:0008089Abnormality of the fifth metatarsal bone0TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome241
HP:0008089HP:0041223Fractured metatarsal bone of digit 51 CL E G H
HP:0008089HP:0040033Aplasia/Hypoplasia of the fifth metatarsal bone1 CL E G H
HP:0008089HP:0004704Short fifth metatarsal1CDC42BPB CL E G H95781738OMIM:619841
HP:0008089HP:0004704Short fifth metatarsal1GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040282 - Frequent101
HP:0008089HP:0004704Short fifth metatarsal1GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040282 - Frequent101
HP:0008089HP:0004704Short fifth metatarsal1HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0008089HP:0004704Short fifth metatarsal1HOXD13 CL E G H32395136ORPHA:93409Brachydactyly-syndactyly, Zhao typeHP:0040281 - Very frequent25
HP:0008089HP:0004704Short fifth metatarsal1RIPK4 CL E G H54101496ORPHA:1401CHAND syndromeHP:0040283 - Occasional69
HP:0008089HP:0004704Short fifth metatarsal1TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome241


Genes (7) :CDC42BPB FLNA GNAS HEPHL1 HOXD13 RIPK4 TCF4

Diseases (8) :OMIM:619841 OMIM:311300 ORPHA:79443 ORPHA:79444 OMIM:261990 ORPHA:93409 ORPHA:1401 OMIM:610954
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.