Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the dentition (HP:0000164)help
Parent Node:
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Abnormality of primary teeth (HP:0006481)help
Parent Node:
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Premature loss of teeth (HP:0006480)help
..Starting node
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Premature loss of primary teeth (HP:0006323)help
Term ID: 6323
Name: Premature loss of primary teeth
Synonym: Early loss of baby teeth; Early loss of deciduous teeth; Early loss of primary teeth; Premature deciduous tooth loss; Premature exfoliation of deciduous teeth; Premature exfoliation of primary teeth; Premature loss of baby teeth; Premature loss of deciduous teeth
Definition: Loss of the primary (also known as deciduous) teeth before the usual age.
Comments:
Reference: HP:0006323
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandPremature loss of permanent teeth (HP:0006357) 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:0006323HP:0006323Premature loss of primary teeth0ALPL CL E G H249438OMIM:146300Hypophosphatasia, adult.126
HP:0006323HP:0006323Premature loss of primary teeth0ALPL CL E G H249438OMIM:241510Hypophosphatasia, childhood.126
HP:0006323HP:0006323Premature loss of primary teeth0C1R CL E G H7151246ORPHA:75392Periodontal Ehlers-Danlos syndromeHP:0040283 - Occasional15
HP:0006323HP:0006323Premature loss of primary teeth0C1S CL E G H7161247ORPHA:75392Periodontal Ehlers-Danlos syndromeHP:0040283 - Occasional7
HP:0006323HP:0006323Premature loss of primary teeth0CLCN7 CL E G H11862025ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent102
HP:0006323HP:0006323Premature loss of primary teeth0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040283 - Occasional749
HP:0006323HP:0006323Premature loss of primary teeth0CSTB CL E G H14762482ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent51
HP:0006323HP:0006323Premature loss of primary teeth0CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndromeHP:0040281 - Very frequent50
HP:0006323HP:0006323Premature loss of primary teeth0EDAR CL E G H109132895ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent86
HP:0006323HP:0006323Premature loss of primary teeth0EDAR CL E G H109132895ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent86
HP:0006323HP:0006323Premature loss of primary teeth0EDARADD CL E G H12817814341ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent56
HP:0006323HP:0006323Premature loss of primary teeth0EDARADD CL E G H12817814341ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent56
HP:0006323HP:0006323Premature loss of primary teeth0FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosaHP:0040282 - Frequent136
HP:0006323HP:0006323Premature loss of primary teeth0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent111
HP:0006323HP:0006323Premature loss of primary teeth0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome.111
HP:0006323HP:0006323Premature loss of primary teeth0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040281 - Very frequent68
HP:0006323HP:0006323Premature loss of primary teeth0KDF1 CL E G H12669526624ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent1
HP:0006323HP:0006323Premature loss of primary teeth0PRKD1 CL E G H55879407OMIM:617364Congenital heart defects and ectodermal dysplasia.7
HP:0006323HP:0006323Premature loss of primary teeth0SNX10 CL E G H2988714974ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent2
HP:0006323HP:0006323Premature loss of primary teeth0TCIRG1 CL E G H1031211647ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent82
HP:0006323HP:0006323Premature loss of primary teeth0TNFSF11 CL E G H860011926ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent44
HP:0006323HP:0006323Premature loss of primary teeth0TRAF6 CL E G H718912036ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent
HP:0006323HP:0006323Premature loss of primary teeth0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent6
HP:0006323HP:0006323Premature loss of primary teeth0VDR CL E G H742112679ORPHA:93160Hypocalcemic vitamin D-resistant ricketsHP:0040282 - Frequent104
HP:0006323HP:0006323Premature loss of primary teeth0WNT10A CL E G H8032613829ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent71
HP:0006323HP:0006323Premature loss of primary teeth0WNT10A CL E G H8032613829ORPHA:50944Schöpf-Schulz-Passarge syndromeHP:0040282 - Frequent71


Genes (21) :ALPL C1R C1S CLCN7 COL3A1 CSTB CTSC EDAR EDARADD FERMT1 FIG4 GJA1 KDF1 PRKD1 SNX10 TCIRG1 TNFSF11 TRAF6 VAC14 VDR WNT10A

Diseases (15) :OMIM:146300 OMIM:241510 ORPHA:75392 ORPHA:667 ORPHA:286 ORPHA:248 ORPHA:678 ORPHA:1810 ORPHA:2908 ORPHA:3472 OMIM:216340 ORPHA:2710 OMIM:617364 ORPHA:93160 ORPHA:50944
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.