Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the dentition (HP:0000164)help
Parent Node:
expand
Tooth malposition (HP:0000692)help
..Starting node
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Diastema (HP:0000699)help
Term ID: 699
Name: Diastema
Synonym: Dental diastasis; Dental diastema; Diastasis of the teeth; Diastema of the teeth; Gap between teeth; Gaps between teeth
Definition: Increased space between two adjacent teeth in the same dental arch.
Comments:
Reference: HP:0000699
Genes and Diseases:
 
       Child Nodes:
........expandWidely-spaced incisors (HP:0006304) help
................... HP:0001566 Widely-spaced maxillary central incisors

 Sister Nodes: 
..expandDental crowding (HP:0000678) help
..expandDental malocclusion (HP:0000689) help
..expandIncreased overbite (HP:0011094) help
..expandIrregularly spaced teeth (HP:0006316) help
..expandMisalignment of incisors (HP:0011062) help
..expandOpen bite (HP:0010807) help
..expandOverjet (HP:0011095) help
..expandWidely spaced teeth (HP:0000687) 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:0000699HP:0000699Diastema0ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0000699HP:0000699Diastema0ACTL6B CL E G H51412160OMIM:618470Intellectual developmental disorder with severe speech and ambulation defects.2
HP:0000699HP:0000699Diastema0ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 19
HP:0000699HP:0000699Diastema0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0000699HP:0000699Diastema0ANKRD11 CL E G H2912321316ORPHA:2332KBG syndrome102
HP:0000699HP:0000699Diastema0ARSK CL E G H15364225239OMIM:619698MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0000699HP:0000699Diastema0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked169
HP:0000699HP:0000699Diastema0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1169
HP:0000699HP:0000699Diastema0CHSY1 CL E G H2285617198OMIM:605282Temtamy preaxial brachydactyly syndrome.16
HP:0000699HP:0000699Diastema0CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0000699HP:0000699Diastema0DNMT3A CL E G H17882978ORPHA:404443Tatton-Brown-Rahman syndrome44
HP:0000699HP:0000699Diastema0FREM1 CL E G H15832623399OMIM:608980Bifid nose with or without anorectal and renal anomalies198
HP:0000699HP:0000699Diastema0GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome33
HP:0000699HP:0000699Diastema0HMGB3 CL E G H31495004OMIM:300915Microphthalmia, syndromic 13.2
HP:0000699HP:0000699Diastema0HRAS CL E G H32655173ORPHA:79414Woolly hair nevus113
HP:0000699HP:0000699Diastema0IFT57 CL E G H5508117367OMIM:617927Orofaciodigital syndrome XVIII.
HP:0000699HP:0000699Diastema0KCNMA1 CL E G H37786284OMIM:618729LIANG-WANG SYNDROME; LIWAS114
HP:0000699HP:0000699Diastema0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0000699HP:0000699Diastema0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa.39
HP:0000699HP:0000699Diastema0NHS CL E G H48107820OMIM:302350Nance-Horan syndrome.88
HP:0000699HP:0000699Diastema0PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndromeHP:0040283 - Occasional24
HP:0000699HP:0000699Diastema0PACS1 CL E G H5569030032OMIM:615009Schuurs-Hoeijmakers syndrome.24
HP:0000699HP:0000699Diastema0PRKACA CL E G H55669380OMIM:619142CARDIOACROFACIAL DYSPLASIA 1; CAFD12
HP:0000699HP:0000699Diastema0RDH11 CL E G H5110917964ORPHA:436245Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndromeHP:0040282 - Frequent2
HP:0000699HP:0000699Diastema0RNF2 CL E G H604510061OMIM:619460LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000699HP:0000699Diastema0STAG1 CL E G H1027411354OMIM:617635Mental retardation, autosomal dominant 479
HP:0000699HP:0000699Diastema0STAG1 CL E G H1027411354ORPHA:502434STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome9
HP:0000699HP:0000699Diastema0TCF12 CL E G H693811623OMIM:619718HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH2628
HP:0000699HP:0000699Diastema0TUBGCP2 CL E G H1084418599OMIM:618737PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000699HP:0000699Diastema0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome.13
HP:0000699HP:0006304Widely-spaced incisors1ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0000699HP:0006304Widely-spaced incisors1ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 19
HP:0000699HP:0006304Widely-spaced incisors1ANKRD11 CL E G H2912321316ORPHA:2332KBG syndrome102
HP:0000699HP:0006304Widely-spaced incisors1ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0000699HP:0006304Widely-spaced incisors1ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked169
HP:0000699HP:0006304Widely-spaced incisors1ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1169
HP:0000699HP:0006304Widely-spaced incisors1CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0000699HP:0006304Widely-spaced incisors1DNMT3A CL E G H17882978ORPHA:404443Tatton-Brown-Rahman syndrome44
HP:0000699HP:0006304Widely-spaced incisors1FREM1 CL E G H15832623399OMIM:608980Bifid nose with or without anorectal and renal anomalies198
HP:0000699HP:0006304Widely-spaced incisors1GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome33
HP:0000699HP:0006304Widely-spaced incisors1HRAS CL E G H32655173ORPHA:79414Woolly hair nevus113
HP:0000699HP:0006304Widely-spaced incisors1RNF2 CL E G H604510061OMIM:619460LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000699HP:0006304Widely-spaced incisors1STAG1 CL E G H1027411354OMIM:617635Mental retardation, autosomal dominant 47.9
HP:0000699HP:0006304Widely-spaced incisors1STAG1 CL E G H1027411354ORPHA:502434STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome9
HP:0000699HP:0006304Widely-spaced incisors1TUBGCP2 CL E G H1084418599OMIM:618737PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000699HP:0001566Widely-spaced maxillary central incisors2ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0000699HP:0001566Widely-spaced maxillary central incisors2ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 1.9
HP:0000699HP:0001566Widely-spaced maxillary central incisors2ANKRD11 CL E G H2912321316ORPHA:2332KBG syndromeHP:0040282 - Frequent102
HP:0000699HP:0001566Widely-spaced maxillary central incisors2ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome.102
HP:0000699HP:0001566Widely-spaced maxillary central incisors2ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked.169
HP:0000699HP:0001566Widely-spaced maxillary central incisors2ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0000699HP:0001566Widely-spaced maxillary central incisors2CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndromeHP:0040282 - Frequent16
HP:0000699HP:0001566Widely-spaced maxillary central incisors2DNMT3A CL E G H17882978ORPHA:404443Tatton-Brown-Rahman syndromeHP:0040283 - Occasional44
HP:0000699HP:0001566Widely-spaced maxillary central incisors2FREM1 CL E G H15832623399OMIM:608980Bifid nose with or without anorectal and renal anomalies198
HP:0000699HP:0001566Widely-spaced maxillary central incisors2GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeHP:0040283 - Occasional33
HP:0000699HP:0001566Widely-spaced maxillary central incisors2RNF2 CL E G H604510061OMIM:619460LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000699HP:0001566Widely-spaced maxillary central incisors2STAG1 CL E G H1027411354ORPHA:502434STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndromeHP:0040283 - Occasional9


Genes (25) :ABCC9 ACTL6B ALX3 ANKRD11 ARSK ATRX CHSY1 DNMT3A FREM1 GATAD2B HMGB3 HRAS IFT57 KCNMA1 KDM5C MGAT2 NHS PACS1 PRKACA RDH11 RNF2 STAG1 TCF12 TUBGCP2 UBE3B

Diseases (30) :OMIM:619719 OMIM:618470 OMIM:136760 OMIM:148050 ORPHA:2332 OMIM:619698 OMIM:301040 OMIM:309580 OMIM:605282 ORPHA:363417 ORPHA:404443 OMIM:608980 ORPHA:363686 OMIM:300915 ORPHA:79414 OMIM:617927 OMIM:618729 OMIM:300534 OMIM:212066 OMIM:302350 ORPHA:329224 OMIM:615009 OMIM:619142 ORPHA:436245 OMIM:619460 OMIM:617635 ORPHA:502434 OMIM:619718 OMIM:618737 OMIM:244450
 

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