Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the dentition (HP:0000164)help
Parent Node:
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Abnormality of dental eruption (HP:0006292)help
Parent Node:
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Abnormality of primary teeth (HP:0006481)help
..Starting node
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Persistence of primary teeth (HP:0006335)help
Term ID: 6335
Name: Persistence of primary teeth
Synonym: Deciduous teeth retention; Delayed loss of baby teeth; Delayed loss of deciduous teeth; Delayed loss of primary teeth; Failure to exfoliate deciduous teeth; Failure to exfoliate primary teeth; Failure to lose baby teeth; Persistence of deciduous teeth; Persistent deciduous dentition; Persistent primary dentition; Persistent primary teeth; Retained baby teeth; Retained deciduous teeth; Retained primary teeth
Definition: Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth.
Comments:
Reference: HP:0006335
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormality of primary molar morphology (HP:0006344) help
..expandDelayed eruption of primary teeth (HP:0000680) help
..expandHypoplasia of the primary teeth (HP:0006334) help
..expandMicrodontia of primary teeth (HP:0006347) help
..expandPremature loss of primary teeth (HP:0006323) help
..expandWidely spaced primary teeth (HP:0006313) 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:0006335HP:0006335Persistence of primary teeth0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0006335HP:0006335Persistence of primary teeth0CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosis29
HP:0006335HP:0006335Persistence of primary teeth0CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0006335HP:0006335Persistence of primary teeth0CTSK CL E G H15132536OMIM:265800PYCNODYSOSTOSIS.39
HP:0006335HP:0006335Persistence of primary teeth0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 114
HP:0006335HP:0006335Persistence of primary teeth0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0006335HP:0006335Persistence of primary teeth0FAM111A CL E G H6390124725ORPHA:93325Autosomal dominant Kenny-Caffey syndromeHP:0040283 - Occasional8
HP:0006335HP:0006335Persistence of primary teeth0FLNA CL E G H23163754OMIM:305620Frontometaphyseal dysplasia.493
HP:0006335HP:0006335Persistence of primary teeth0IL6ST CL E G H35726021OMIM:619752HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0006335HP:0006335Persistence of primary teeth0KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis.193
HP:0006335HP:0006335Persistence of primary teeth0KCNJ2 CL E G H37596263ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional193
HP:0006335HP:0006335Persistence of primary teeth0KCNJ5 CL E G H37626266ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional128
HP:0006335HP:0006335Persistence of primary teeth0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0006335HP:0006335Persistence of primary teeth0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040283 - Occasional645
HP:0006335HP:0006335Persistence of primary teeth0PTH1R CL E G H57459608OMIM:125350Dental noneruption.58
HP:0006335HP:0006335Persistence of primary teeth0PTH1R CL E G H57459608OMIM:600002Eiken syndrome58
HP:0006335HP:0006335Persistence of primary teeth0PUS7 CL E G H5451726033OMIM:618342Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0006335HP:0006335Persistence of primary teeth0RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0006335HP:0006335Persistence of primary teeth0RHOA CL E G H387667OMIM:618727ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB8
HP:0006335HP:0006335Persistence of primary teeth0SFRP4 CL E G H642410778OMIM:265900Pyle disease3
HP:0006335HP:0006335Persistence of primary teeth0SOX4 CL E G H665911200OMIM:618506Coffin-Siris syndrome 10HP:0040284 - Very rare
HP:0006335HP:0006335Persistence of primary teeth0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040283 - Occasional138
HP:0006335HP:0006335Persistence of primary teeth0STAT3 CL E G H677411364OMIM:147060Hyper-IgE recurrent infection syndrome110
HP:0006335HP:0006335Persistence of primary teeth0TFAP2B CL E G H702111743ORPHA:46627Char syndromeHP:0040283 - Occasional104
HP:0006335HP:0006335Persistence of primary teeth0TNFSF11 CL E G H860011926OMIM:259710Osteopetrosis, autosomal recessive 2.44
HP:0006335HP:0006335Persistence of primary teeth0WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 198
HP:0006335HP:0006335Persistence of primary teeth0ZBTB7A CL E G H5134118078OMIM:619769MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0006335HP:0006335Persistence of primary teeth0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040283 - Occasional83


Genes (25) :BCOR CA2 CTSK DVL1 EHMT1 FAM111A FLNA IL6ST KCNJ2 KCNJ5 KIF7 LMNA PTH1R PUS7 RAB23 RHOA SFRP4 SOX4 SRCAP STAT3 TFAP2B TNFSF11 WNT5A ZBTB7A ZMPSTE24

Diseases (25) :OMIM:300166 ORPHA:2785 ORPHA:763 OMIM:265800 OMIM:180700 OMIM:610253 ORPHA:93325 OMIM:305620 OMIM:619752 OMIM:170390 ORPHA:37553 OMIM:200990 ORPHA:740 OMIM:125350 OMIM:600002 OMIM:618342 OMIM:201000 OMIM:618727 OMIM:265900 OMIM:618506 ORPHA:2044 OMIM:147060 ORPHA:46627 OMIM:259710 OMIM:619769
 

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