| Term ID: |
264 |
| Name: |
Abnormal mastoid morphology |
| Synonym: |
Abnormality of mastoid process of temporal bone; Abnormality of the mastoid |
| Definition: |
An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone. |
| Comments: |
|
| Reference: |
HP:0000264 |
| Genes and Diseases: | |
Child Nodes: |
........ Mastoiditis (HP:0000265) 
|
........Delayed pneumatization of the mastoid process (HP:0005906)
|
........Advanced pneumatization of the mastoid process (HP:0010724)
|
........Absent mastoid (HP:0012761)
|
Sister Nodes: |
..Abnormal calvaria morphology (HP:0002683)
|
..Abnormal facial skeleton morphology (HP:0011821)
|
..Abnormal foramen magnum morphology (HP:0002699)
|
..Abnormal morphology of bony orbit of skull (HP:3000030)
|
..Abnormal occipital bone morphology (HP:0012294)
|
..Abnormal sella turcica morphology (HP:0002679)
|
..Abnormal temporal bone morphology (HP:0009911)
|
..Abnormality of skull ossification (HP:0002703)
|
..Abnormality of skull size (HP:0000240)
|
..Abnormality of the skull base (HP:0002693)
|
..Aplasia/Hypoplasia involving bones of the skull (HP:0009116)
|
..Cephalocele (HP:0011815)
|
..Craniofacial dysostosis (HP:0004439)
|
| 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:0000264 | HP:0000264 | Abnormal mastoid morphology | 0 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | | | | 2 | | | | HP:0000264 | HP:0000264 | Abnormal mastoid morphology | 0 | CTSK CL E G H | 1513 | 2536 | ORPHA:763 | Pycnodysostosis | | | | 39 | | | | HP:0000264 | HP:0000264 | Abnormal mastoid morphology | 0 | DLX3 CL E G H | 1747 | 2916 | ORPHA:3352 | Tricho-dento-osseous syndrome | HP:0040282 - Frequent | | | 48 | | | | HP:0000264 | HP:0000264 | Abnormal mastoid morphology | 0 | DLX3 CL E G H | 1747 | 2916 | OMIM:190320 | Trichodentoosseous syndrome | . | | | 48 | | | | HP:0000264 | HP:0000264 | Abnormal mastoid morphology | 0 | NBN CL E G H | 4683 | 7652 | OMIM:251260 | Nijmegen breakage syndrome | | | | 706 | | | | HP:0000264 | HP:0000264 | Abnormal mastoid morphology | 0 | PAX1 CL E G H | 5075 | 8615 | OMIM:615560 | Otofaciocervical syndrome 2 | | | | 3 | | | | HP:0000264 | HP:0000264 | Abnormal mastoid morphology | 0 | RAG1 CL E G H | 5896 | 9831 | OMIM:601457 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | | | 127 | | | | HP:0000264 | HP:0000264 | Abnormal mastoid morphology | 0 | RAG2 CL E G H | 5897 | 9832 | OMIM:601457 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | | | 50 | | | | HP:0000264 | HP:0000264 | Abnormal mastoid morphology | 0 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:144755 | Hyperostosis cranialis interna | | | | 5 | | | | HP:0000264 | HP:0000264 | Abnormal mastoid morphology | 0 | TPP2 CL E G H | 7174 | 12016 | OMIM:619220 | IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78 | | | | | | | | HP:0000264 | HP:0012761 | Absent mastoid | 1 | CL E G H | | | | | | | | | | | | HP:0000264 | HP:0010724 | Advanced pneumatization of the mastoid process | 1 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | HP:0040281 - Very frequent | | | 2 | | | | HP:0000264 | HP:0005906 | Delayed pneumatization of the mastoid process | 1 | CTSK CL E G H | 1513 | 2536 | ORPHA:763 | Pycnodysostosis | | | | 39 | | | | HP:0000264 | HP:0000265 | Mastoiditis | 1 | NBN CL E G H | 4683 | 7652 | OMIM:251260 | Nijmegen breakage syndrome | . | | | 706 | | | | HP:0000264 | HP:0000265 | Mastoiditis | 1 | PAX1 CL E G H | 5075 | 8615 | OMIM:615560 | Otofaciocervical syndrome 2 | HP:0040283 - Occasional | | | 3 | | | | HP:0000264 | HP:0000265 | Mastoiditis | 1 | RAG1 CL E G H | 5896 | 9831 | OMIM:601457 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | . | | | 127 | | | | HP:0000264 | HP:0000265 | Mastoiditis | 1 | RAG2 CL E G H | 5897 | 9832 | OMIM:601457 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | . | | | 50 | | | | HP:0000264 | HP:0000265 | Mastoiditis | 1 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:144755 | Hyperostosis cranialis interna | HP:0040284 - Very rare | | | 5 | | | | HP:0000264 | HP:0000265 | Mastoiditis | 1 | TPP2 CL E G H | 7174 | 12016 | OMIM:619220 | IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78 | | | | | | |
Genes (9) :CDH11 CTSK DLX3 NBN PAX1 RAG1 RAG2 SLC39A14 TPP2
Diseases (9) :ORPHA:1299 ORPHA:763 ORPHA:3352 OMIM:190320 OMIM:251260 OMIM:615560 OMIM:601457 OMIM:144755 OMIM:619220 |
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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