| Term ID: |
300 |
| Name: |
Oval face |
| Synonym: |
Oval face; Oval facial shape; Oval facies |
| Definition: |
A face with a rounded and slightly elongated outline. |
| Comments: |
|
| Reference: |
HP:0000300 |
| Genes and Diseases: | |
Child Nodes: |
Sister Nodes: |
.. Bird-like facies (HP:0000320) 
|
..Coarse facial features (HP:0000280)
|
..Craniofacial disproportion (HP:0005461)
|
..Doll-like facies (HP:0000295)
|
..Elfin facies (HP:0004428)
|
..Facial asymmetry (HP:0000324)
|
..Facial shape deformation (HP:0011334)
|
..Flat face (HP:0012368)
|
..Large face (HP:0100729)
|
..Moon facies (HP:0500011)
|
..obsolete Abnormality of the shape of the midface (HP:0430026)
|
..Round face (HP:0000311)
|
..Small face (HP:0000274)
|
..Square face (HP:0000321)
|
..Triangular face (HP:0000325)
|
| 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:0000300 | HP:0000300 | Oval face | 0 | ADARB1 CL E G H | 104 | 226 | OMIM:618862 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS | | | | 1 | | | | HP:0000300 | HP:0000300 | Oval face | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:271640 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | . | | | 38 | | | | HP:0000300 | HP:0000300 | Oval face | 0 | CASK CL E G H | 8573 | 1497 | OMIM:300749 | Mental retardation and microcephaly with pontine and cerebellar hypoplasia | . | | | 118 | | | | HP:0000300 | HP:0000300 | Oval face | 0 | CNTN1 CL E G H | 1272 | 2171 | OMIM:612540 | Myopathy, congenital, compton-north | . | | | 40 | | | | HP:0000300 | HP:0000300 | Oval face | 0 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | | | HP:0000300 | HP:0000300 | Oval face | 0 | EXOC2 CL E G H | 55770 | 24968 | OMIM:619306 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH | | | | 1 | | | | HP:0000300 | HP:0000300 | Oval face | 0 | HYOU1 CL E G H | 10525 | 16931 | OMIM:233600 | Immunodeficiency 59 and hypoglycemia | . | | | | | | | HP:0000300 | HP:0000300 | Oval face | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:420179 | Malan overgrowth syndrome | HP:0040282 - Frequent | | | 40 | | | | HP:0000300 | HP:0000300 | Oval face | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | HP:0040283 - Occasional | | | 19 | | | | HP:0000300 | HP:0000300 | Oval face | 0 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:261222 | Distal 16p11.2 microdeletion syndrome | HP:0040281 - Very frequent | | | | | | | HP:0000300 | HP:0000300 | Oval face | 0 | SLC25A12 CL E G H | 8604 | 10982 | OMIM:612949 | Epileptic encephalopathy, early infantile, 39 | | | | 44 | | | | HP:0000300 | HP:0000300 | Oval face | 0 | SOX18 CL E G H | 54345 | 11194 | OMIM:137940 | Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome | . | | | 7 | | | | HP:0000300 | HP:0000300 | Oval face | 0 | SPEN CL E G H | 23013 | 17575 | OMIM:619312 | RADIO-TARTAGLIA SYNDROME; RATARS | | | | 4 | | | | HP:0000300 | HP:0000300 | Oval face | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | | | HP:0000300 | HP:0000300 | Oval face | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:106260 | Ankyloblepharon-Ectodermal defects-cleft lip/palate | . | | | 140 | | | | HP:0000300 | HP:0000300 | Oval face | 0 | TSPEAR CL E G H | 54084 | 1268 | OMIM:618180 | Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis | . | | | 39 | | |
Genes (16) :ADARB1 B3GALT6 CASK CNTN1 EBF3 EXOC2 HYOU1 NFIX PUF60 SH2B1 SLC25A12 SOX18 SPEN SPTBN1 TP63 TSPEAR
Diseases (16) :OMIM:618862 OMIM:271640 OMIM:300749 OMIM:612540 OMIM:617330 OMIM:619306 OMIM:233600 ORPHA:420179 ORPHA:508488 ORPHA:261222 OMIM:612949 OMIM:137940 OMIM:619312 OMIM:619475 OMIM:106260 OMIM:618180 |
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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