| Term ID: |
6429 |
| Name: |
Broad femoral neck |
| Synonym: |
Broadening of femoral neck; Wide femoral neck; Wide neck of thigh bone; Widened femoral necks |
| Definition: |
An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). |
| Comments: |
|
| Reference: |
HP:0006429 |
| Genes and Diseases: | |
Child Nodes: |
Sister Nodes: | .. Coxa valga (HP:0002673) 
| ..Coxa vara (HP:0002812)
| ..Narrow femoral neck (HP:0008819)
| ..Short femoral neck (HP:0100864)
| | 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:0006429 | HP:0006429 | Broad femoral neck | 0 | ACVR1 CL E G H | 90 | 171 | OMIM:135100 | Fibrodysplasia ossificans progressiva | . | | | 49 | | | | HP:0006429 | HP:0006429 | Broad femoral neck | 0 | ARCN1 CL E G H | 372 | 649 | OMIM:617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | HP:0040283 - Occasional | | | 3 | | | | HP:0006429 | HP:0006429 | Broad femoral neck | 0 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | . | | | 85 | | | | HP:0006429 | HP:0006429 | Broad femoral neck | 0 | CCN6 CL E G H | 8838 | 12771 | ORPHA:1159 | Progressive pseudorheumatoid arthropathy of childhood | HP:0040283 - Occasional | | | | | | | HP:0006429 | HP:0006429 | Broad femoral neck | 0 | COL10A1 CL E G H | 1300 | 2185 | OMIM:156500 | Metaphyseal chondrodysplasia, Schmid type | | | | 79 | | | | HP:0006429 | HP:0006429 | Broad femoral neck | 0 | COMP CL E G H | 1311 | 2227 | OMIM:132400 | Epiphyseal dysplasia, multiple, 1 | . | | | 89 | | | | HP:0006429 | HP:0006429 | Broad femoral neck | 0 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | HP:0040282 - Frequent | | | 65 | | | | HP:0006429 | HP:0006429 | Broad femoral neck | 0 | MATN3 CL E G H | 4148 | 6909 | OMIM:607078 | Epiphyseal dysplasia, multiple, 5 | . | | | 32 | | | | HP:0006429 | HP:0006429 | Broad femoral neck | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:600002 | Eiken syndrome | | | | 58 | | | | HP:0006429 | HP:0006429 | Broad femoral neck | 0 | RAB33B CL E G H | 83452 | 16075 | OMIM:615222 | Smith-Mccort dysplasia 2 | . | | | 53 | | | | HP:0006429 | HP:0006429 | Broad femoral neck | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | | | | 135 | | | | HP:0006429 | HP:0006429 | Broad femoral neck | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93307 | Multiple epiphyseal dysplasia type 4 | HP:0040283 - Occasional | | | 166 | | | | HP:0006429 | HP:0006429 | Broad femoral neck | 0 | SLC39A13 CL E G H | 91252 | 20859 | OMIM:612350 | Ehlers-Danlos syndrome, spondylodysplastic type, 3 | . | | | 24 | | | | HP:0006429 | HP:0006429 | Broad femoral neck | 0 | SLC39A13 CL E G H | 91252 | 20859 | ORPHA:157965 | SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 24 | | | | HP:0006429 | HP:0006429 | Broad femoral neck | 0 | TMEM53 CL E G H | 79639 | 26186 | OMIM:619727 | CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI | | | | | | | | HP:0006429 | HP:0006429 | Broad femoral neck | 0 | UFSP2 CL E G H | 55325 | 25640 | ORPHA:2114 | Hip dysplasia, Beukes type | HP:0040281 - Very frequent | | | 2 | | | | HP:0006429 | HP:0006429 | Broad femoral neck | 0 | UFSP2 CL E G H | 55325 | 25640 | OMIM:142669 | Hip dysplasia, Beukes type | . | | | 2 | | |
Genes (15) :ACVR1 ARCN1 CANT1 CCN6 COL10A1 COMP DYM MATN3 PTH1R RAB33B RAB3GAP2 SLC26A2 SLC39A13 TMEM53 UFSP2
Diseases (17) :OMIM:135100 OMIM:617164 OMIM:251450 ORPHA:1159 OMIM:156500 OMIM:132400 ORPHA:239 OMIM:607078 OMIM:600002 OMIM:615222 OMIM:212720 ORPHA:93307 OMIM:612350 ORPHA:157965 OMIM:619727 ORPHA:2114 OMIM:142669 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
|
|
