Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the face (HP:0000271)help
Parent Node:
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Abnormal facial shape (HP:0001999)help
..Starting node
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Square face (HP:0000321)help
Term ID: 321
Name: Square face
Synonym: Square face; Square facial shape; Square facies
Definition: Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance.
Comments:
Reference: HP:0000321
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBird-like facies (HP:0000320) help
..expandCoarse facial features (HP:0000280) help
..expandCraniofacial disproportion (HP:0005461) help
..expandDoll-like facies (HP:0000295) help
..expandElfin facies (HP:0004428) help
..expandFacial asymmetry (HP:0000324) help
..expandFacial shape deformation (HP:0011334) help
..expandFlat face (HP:0012368) help
..expandLarge face (HP:0100729) help
..expandMoon facies (HP:0500011) help
..expandobsolete Abnormality of the shape of the midface (HP:0430026) help
..expandOval face (HP:0000300) help
..expandRound face (HP:0000311) help
..expandSmall face (HP:0000274) help
..expandTriangular face (HP:0000325) 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:0000321HP:0000321Square face0ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndromeHP:0040282 - Frequent
HP:0000321HP:0000321Square face0CHD7 CL E G H5563620626OMIM:214800Charge syndrome.515
HP:0000321HP:0000321Square face0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0000321HP:0000321Square face0EP300 CL E G H20333373OMIM:618333MENKE-HENNEKAM SYNDROME 2; MKHK2250
HP:0000321HP:0000321Square face0IFT57 CL E G H5508117367OMIM:617927Orofaciodigital syndrome XVIII.
HP:0000321HP:0000321Square face0KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 65.2
HP:0000321HP:0000321Square face0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome.144
HP:0000321HP:0000321Square face0OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 573
HP:0000321HP:0000321Square face0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040282 - Frequent19
HP:0000321HP:0000321Square face0SETD1B CL E G H2306729187OMIM:619000INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0000321HP:0000321Square face0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040282 - Frequent20


Genes (11) :ADAMTSL1 CHD7 CREBBP EP300 IFT57 KDM5B LIFR OSTM1 PUF60 SETD1B WAC

Diseases (11) :ORPHA:521445 OMIM:214800 OMIM:618332 OMIM:618333 OMIM:617927 OMIM:618109 OMIM:601559 OMIM:259720 ORPHA:508488 OMIM:619000 ORPHA:466950
 

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