Term ID: |
6285 |
Name: |
Enamel hypomineralization |
Synonym: |
Decreased enamel mineralisation; Fluorosis of tooth enamel; Hypomineralization of enamel; Increased porosity of tooth enamel; Mottled tooth enamel; Poorly mineralized tooth enamel; White spot lesions of tooth enamel |
Definition: |
A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect. |
Comments: |
|
Reference: |
HP:0006285 |
Genes and Diseases: | |
Child Nodes: |
........Hypocalcification of dental enamel (HP:0011084) |
........Hypomature dental enamel (HP:0011085) |
Sister Nodes: |
..Amelogenesis imperfecta (HP:0000705)
|
..Dental enamel pits (HP:0009722)
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..Enamel hypoplasia (HP:0006297)
|
..Grayish enamel (HP:0000683)
|
Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: | HPO disease - gene - phenotype less frequent non-typical associations: | HP:0006285 | HP:0006285 | Enamel hypomineralization | 0 | AMTN CL E G H | 401138 | 33188 | OMIM:617607 | AMELOGENESIS IMPERFECTA, TYPE IIIB; AI3B | | | | 1 | | | HP:0006285 | HP:0006285 | Enamel hypomineralization | 0 | DLX3 CL E G H | 1747 | 2916 | ORPHA:3352 | Tricho-dento-osseous syndrome | HP:0040282 - Frequent | | | 48 | | | HP:0006285 | HP:0006285 | Enamel hypomineralization | 0 | ENAM CL E G H | 10117 | 3344 | OMIM:204650 | Amelogenesis imperfecta, type IC | . | | | 50 | | | HP:0006285 | HP:0006285 | Enamel hypomineralization | 0 | GPR68 CL E G H | 8111 | 4519 | OMIM:617217 | AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A6 | | | | 3 | | | HP:0006285 | HP:0006285 | Enamel hypomineralization | 0 | ODAPH CL E G H | 152816 | 26300 | OMIM:614832 | Amelogenesis imperfecta, hypomaturation type, iia4 | . | | | 6 | | | HP:0006285 | HP:0006285 | Enamel hypomineralization | 0 | PHEX CL E G H | 5251 | 8918 | OMIM:307800 | Hypophosphatemic rickets, X-linked dominant | . | | | 217 | | | HP:0006285 | HP:0006285 | Enamel hypomineralization | 0 | RELT CL E G H | 84957 | 13764 | OMIM:618386 | Amelogenesis imperfecta, type IIIC | | | | | | | HP:0006285 | HP:0006285 | Enamel hypomineralization | 0 | WDR72 CL E G H | 256764 | 26790 | OMIM:613211 | Amelogenesis imperfecta, hypomaturation type, iia3 | . | | | 137 | | | HP:0006285 | HP:0011084 | Hypocalcification of dental enamel | 1 | RELT CL E G H | 84957 | 13764 | OMIM:618386 | Amelogenesis imperfecta, type IIIC | | | | | | | HP:0006285 | HP:0011085 | Hypomature dental enamel | 1 | WDR72 CL E G H | 256764 | 26790 | OMIM:613211 | Amelogenesis imperfecta, hypomaturation type, iia3 | . | | | 137 | | |
Genes (8) :AMTN DLX3 ENAM GPR68 ODAPH PHEX RELT WDR72
Diseases (8) :OMIM:617607 ORPHA:3352 OMIM:204650 OMIM:617217 OMIM:614832 OMIM:307800 OMIM:618386 OMIM:613211 |
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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