Human Phenotype Ontology 
Grandparent Node:
expandAbnormal spaced incisors (HP:0040159)help
Grandparent Node:
expandDiastema (HP:0000699)help
Parent Node:
expandWidely-spaced incisors (HP:0006304)help
..Starting node
..expandWidely-spaced maxillary central incisors (HP:0001566)help
Term ID: 1566
Name: Widely-spaced maxillary central incisors
Synonym: Central incisor gap; Diastasis of the central incisors; Diastema between maxillary central incisors; Diastema between upper front teeth; Diastema between upper incisors; Gap between upper front teeth; Separated superior central incisors; Wide gap between upper central incisors; Wide upper central incisors; Widely spaced upper incisors
Definition: Increased distance between the maxillary central permanent incisor tooth.
Comments:
Reference: HP:0001566
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001566HP:0001566Widely-spaced maxillary central incisors0ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0001566HP:0001566Widely-spaced maxillary central incisors0ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 1.9
HP:0001566HP:0001566Widely-spaced maxillary central incisors0ANKRD11 CL E G H2912321316ORPHA:2332KBG syndromeHP:0040282 - Frequent102
HP:0001566HP:0001566Widely-spaced maxillary central incisors0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome.102
HP:0001566HP:0001566Widely-spaced maxillary central incisors0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked.169
HP:0001566HP:0001566Widely-spaced maxillary central incisors0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0001566HP:0001566Widely-spaced maxillary central incisors0CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndromeHP:0040282 - Frequent16
HP:0001566HP:0001566Widely-spaced maxillary central incisors0DNMT3A CL E G H17882978ORPHA:404443Tatton-Brown-Rahman syndromeHP:0040283 - Occasional44
HP:0001566HP:0001566Widely-spaced maxillary central incisors0FREM1 CL E G H15832623399OMIM:608980Bifid nose with or without anorectal and renal anomalies198
HP:0001566HP:0001566Widely-spaced maxillary central incisors0GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeHP:0040283 - Occasional33
HP:0001566HP:0001566Widely-spaced maxillary central incisors0RNF2 CL E G H604510061OMIM:619460LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0001566HP:0001566Widely-spaced maxillary central incisors0STAG1 CL E G H1027411354ORPHA:502434STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndromeHP:0040283 - Occasional9


Genes (10) :ABCC9 ALX3 ANKRD11 ATRX CHSY1 DNMT3A FREM1 GATAD2B RNF2 STAG1

Diseases (12) :OMIM:619719 OMIM:136760 ORPHA:2332 OMIM:148050 OMIM:301040 OMIM:309580 ORPHA:363417 ORPHA:404443 OMIM:608980 ORPHA:363686 OMIM:619460 ORPHA:502434
 

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