Human Phenotype Ontology 
Grandparent Node:
expandAplasia/Hypoplasia of metatarsal bones (HP:0001964)help
Grandparent Node:
expandobsolete Abnormal morphology of bones of the lower limbs (HP:0040066)help
Grandparent Node:
expandShort long bone (HP:0003026)help
Parent Node:
expandAbnormality of the fourth metatarsal bone (HP:0040035)help
Parent Node:
expandShort metatarsal (HP:0010743)help
..Starting node
..expandShort fourth metatarsal (HP:0004689)help
Term ID: 4689
Name: Short fourth metatarsal
Synonym: Bilateral fourth metatarsal shortening; Short 4th long bone of foot; Short fourth metatarsals; Short fourth metatarsus
Definition: Short fourth metatarsal bone.
Comments:
Reference: HP:0004689
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandShort fifth metatarsal (HP:0004704) help
..expandShort first metatarsal (HP:0010105) help
..expandShort second metatarsal (HP:0011845) help
..expandShort third metatarsal (HP:0004686) 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:0004689HP:0004689Short fourth metatarsal0CDC42BPB CL E G H95781738OMIM:619841
HP:0004689HP:0004689Short fourth metatarsal0DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 1.27
HP:0004689HP:0004689Short fourth metatarsal0EZH2 CL E G H21463527OMIM:277590Weaver syndrome.81
HP:0004689HP:0004689Short fourth metatarsal0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2.114
HP:0004689HP:0004689Short fourth metatarsal0HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0004689HP:0004689Short fourth metatarsal0LZTFL1 CL E G H545856741OMIM:615994BARDET-BIEDL SYNDROME 17; BBS174
HP:0004689HP:0004689Short fourth metatarsal0PEX7 CL E G H51918860OMIM:266500Refsum disease.72
HP:0004689HP:0004689Short fourth metatarsal0PHYH CL E G H52648940OMIM:266500Refsum disease.45
HP:0004689HP:0004689Short fourth metatarsal0PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0004689HP:0004689Short fourth metatarsal0PRMT7 CL E G H5449625557ORPHA:464288Short stature-brachydactyly-obesity-global developmental delay syndromeHP:0040281 - Very frequent6
HP:0004689HP:0004689Short fourth metatarsal0RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040281 - Very frequent2
HP:0004689HP:0004689Short fourth metatarsal0TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome241
HP:0004689HP:0004689Short fourth metatarsal0ZNF407 CL E G H5562819904OMIM:619557SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA68


Genes (13) :CDC42BPB DCHS1 EZH2 FAT4 HEPHL1 LZTFL1 PEX7 PHYH PIGS PRMT7 RSPRY1 TCF4 ZNF407

Diseases (12) :OMIM:619841 OMIM:601390 OMIM:277590 OMIM:615546 OMIM:261990 OMIM:615994 OMIM:266500 OMIM:618143 ORPHA:464288 ORPHA:457395 OMIM:610954 OMIM:619557
 

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