Human Phenotype Ontology 
Grandparent Node:
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Abnormal odontoid tissue morphology (HP:3000050)help
Grandparent Node:
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Abnormality of dental structure (HP:0011061)help
Parent Node:
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Abnormal dental enamel morphology (HP:0000682)help
..Starting node
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Enamel hypomineralization (HP:0006285)help
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:
........expandHypocalcification of dental enamel (HP:0011084) help
........expandHypomature dental enamel (HP:0011085) help

 Sister Nodes: 
..expandAmelogenesis imperfecta (HP:0000705) help
..expandDental enamel pits (HP:0009722) help
..expandEnamel hypoplasia (HP:0006297) help
..expandGrayish enamel (HP:0000683) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006285HP:0006285Enamel hypomineralization0AMTN CL E G H40113833188OMIM:617607AMELOGENESIS IMPERFECTA, TYPE IIIB; AI3B1
HP:0006285HP:0006285Enamel hypomineralization0DLX3 CL E G H17472916ORPHA:3352Tricho-dento-osseous syndromeHP:0040282 - Frequent48
HP:0006285HP:0006285Enamel hypomineralization0ENAM CL E G H101173344OMIM:204650Amelogenesis imperfecta, type IC.50
HP:0006285HP:0006285Enamel hypomineralization0GPR68 CL E G H81114519OMIM:617217AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A63
HP:0006285HP:0006285Enamel hypomineralization0ODAPH CL E G H15281626300OMIM:614832Amelogenesis imperfecta, hypomaturation type, iia4.6
HP:0006285HP:0006285Enamel hypomineralization0PHEX CL E G H52518918OMIM:307800Hypophosphatemic rickets, X-linked dominant.217
HP:0006285HP:0006285Enamel hypomineralization0RELT CL E G H8495713764OMIM:618386Amelogenesis imperfecta, type IIIC
HP:0006285HP:0006285Enamel hypomineralization0WDR72 CL E G H25676426790OMIM:613211Amelogenesis imperfecta, hypomaturation type, iia3.137
HP:0006285HP:0011084Hypocalcification of dental enamel1RELT CL E G H8495713764OMIM:618386Amelogenesis imperfecta, type IIIC
HP:0006285HP:0011085Hypomature dental enamel1WDR72 CL E G H25676426790OMIM:613211Amelogenesis 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.