Human Phenotype Ontology 
..Starting node
..expandMonkey wrench femoral neck (HP:0033102)help
Term ID: 33102
Name: Monkey wrench femoral neck
Synonym: Monkey wrench appearance of femoral neck; Monkey wrench configuration of the proximal femur; Swedish key appearance of femoral neck; Swedish key configuration of the proximal femur
Definition: The femoral neck region shows medial metaphyseal beaking and a significant enlargement of the lesser trochanter (with some enlargement also of the greater trochanter), producing a monkey wrench (Swedish key) configuration of the proximal femur. A monkey wrench refers to a type of adjustable wrench with one fixed and one adjustable jaw at right angles to a straight handle.
Comments:
Reference: HP:0033102
Genes and Diseases:
 
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 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0033102HP:0033102Monkey wrench femoral neck0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0033102HP:0033102Monkey wrench femoral neck0CANT1 CL E G H12458319721OMIM:617719EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM785
HP:0033102HP:0033102Monkey wrench femoral neck0CSGALNACT1 CL E G H5579024290OMIM:618870SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0033102HP:0033102Monkey wrench femoral neck0XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214


Genes (3) :CANT1 CSGALNACT1 XYLT1

Diseases (4) :OMIM:251450 OMIM:617719 OMIM:618870 OMIM:615777
 

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