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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Doll-like facies (HP:0000295)help
Term ID: 295
Name: Doll-like facies
Synonym: Doll-like facial appearance
Definition: A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin.
Comments:
Reference: HP:0000295
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBird-like facies (HP:0000320) help
..expandCoarse facial features (HP:0000280) help
..expandCraniofacial disproportion (HP:0005461) 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
..expandSquare face (HP:0000321) 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:0000295HP:0000295Doll-like facies0G6PC1 CL E G H25384056OMIM:232200Glycogen storage disease ia.
HP:0000295HP:0000295Doll-like facies0RNASET2 CL E G H863521686OMIM:612951Leukoencephalopathy, cystic, without megalencephalyHP:0040283 - Occasional37
HP:0000295HP:0000295Doll-like facies0SLC2A2 CL E G H651411006ORPHA:2088Fanconi-Bickel syndromeHP:0040284 - Very rare71
HP:0000295HP:0000295Doll-like facies0SLC37A4 CL E G H25424061OMIM:232220Glycogen storage disease ib.110


Genes (4) :G6PC1 RNASET2 SLC2A2 SLC37A4

Diseases (4) :OMIM:232200 OMIM:612951 ORPHA:2088 OMIM:232220
 

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