| Term ID: |
11120 |
| Name: |
Concave nasal ridge |
| Synonym: |
Boxer's nasal deformity; Boxer's nose deformity; Concave dorsum of nose; Concave nasal dorsum; Saddle nose; Saddle nose deformity; Saddle shaped nasal dorsum; Ski jump nose |
| Definition: |
Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip. |
| Comments: |
|
| Reference: |
HP:0011120 |
| Genes and Diseases: | |
Child Nodes: |
Sister Nodes: |
.. Convex nasal ridge (HP:0000444) 
|
..Depressed nasal ridge (HP:0000457)
|
..Large beaked nose (HP:0003683)
|
..Narrow nasal ridge (HP:0000418)
|
..Wide nasal ridge (HP:0012811)
|
| 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:0011120 | HP:0011120 | Concave nasal ridge | 0 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | | | HP:0011120 | HP:0011120 | Concave nasal ridge | 0 | DMXL2 CL E G H | 23312 | 2938 | OMIM:618663 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81 | | | | 3 | | | | HP:0011120 | HP:0011120 | Concave nasal ridge | 0 | EBP CL E G H | 10682 | 3133 | OMIM:302960 | Chondrodysplasia punctata 2, X-linked dominant | . | | | 51 | | | | HP:0011120 | HP:0011120 | Concave nasal ridge | 0 | FBXL4 CL E G H | 26235 | 13601 | OMIM:615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | . | | | 384 | | | | HP:0011120 | HP:0011120 | Concave nasal ridge | 0 | FOXC1 CL E G H | 2296 | 3800 | OMIM:602482 | Axenfeld-rieger syndrome, type 3 | . | | | 63 | | | | HP:0011120 | HP:0011120 | Concave nasal ridge | 0 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | | | | 345 | | | | HP:0011120 | HP:0011120 | Concave nasal ridge | 0 | IGF1 CL E G H | 3479 | 5464 | ORPHA:73272 | Growth delay due to insulin-like growth factor type 1 deficiency | HP:0040283 - Occasional | | | 91 | | | | HP:0011120 | HP:0011120 | Concave nasal ridge | 0 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | | | HP:0011120 | HP:0011120 | Concave nasal ridge | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | | | | 257 | | | | HP:0011120 | HP:0011120 | Concave nasal ridge | 0 | KDF1 CL E G H | 126695 | 26624 | OMIM:617337 | Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type | . | | | 1 | | | | HP:0011120 | HP:0011120 | Concave nasal ridge | 0 | NFKBIA CL E G H | 4792 | 7797 | OMIM:612132 | ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT | . | | | 27 | | | | HP:0011120 | HP:0011120 | Concave nasal ridge | 0 | PEPD CL E G H | 5184 | 8840 | OMIM:170100 | Prolidase deficiency | | | | 66 | | | | HP:0011120 | HP:0011120 | Concave nasal ridge | 0 | POU1F1 CL E G H | 5449 | 9210 | OMIM:613038 | Pituitary hormone deficiency, combined, 1 | | | | 36 | | | | HP:0011120 | HP:0011120 | Concave nasal ridge | 0 | SHANK3 CL E G H | 85358 | 14294 | OMIM:606232 | Phelan-Mcdermid syndrome | . | | | 53 | | | | HP:0011120 | HP:0011120 | Concave nasal ridge | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:619525 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W | | | | 110 | | | | HP:0011120 | HP:0011120 | Concave nasal ridge | 0 | SOST CL E G H | 50964 | 13771 | OMIM:122860 | Craniodiaphyseal dysplasia, autosomal dominant | . | | | 26 | | | | HP:0011120 | HP:0011120 | Concave nasal ridge | 0 | STAT5B CL E G H | 6777 | 11367 | OMIM:245590 | GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY | | | | 12 | | | | HP:0011120 | HP:0011120 | Concave nasal ridge | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040284 - Very rare | | | 362 | | |
Genes (18) :CANT1 DMXL2 EBP FBXL4 FOXC1 HSPG2 IGF1 IL2RA JAG1 KDF1 NFKBIA PEPD POU1F1 SHANK3 SLC37A4 SOST STAT5B ZEB2
Diseases (18) :OMIM:251450 OMIM:618663 OMIM:302960 OMIM:615471 OMIM:602482 OMIM:255800 ORPHA:73272 OMIM:606367 OMIM:118450 OMIM:617337 OMIM:612132 OMIM:170100 OMIM:613038 OMIM:606232 OMIM:619525 OMIM:122860 OMIM:245590 ORPHA:261552 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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