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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Craniofacial disproportion (HP:0005461)help
Term ID: 5461
Name: Craniofacial disproportion
Synonym:
Definition:
Comments:
Reference: HP:0005461
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBird-like facies (HP:0000320) help
..expandCoarse facial features (HP:0000280) 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
..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:0005461HP:0005461Craniofacial disproportion0CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosis29
HP:0005461HP:0005461Craniofacial disproportion0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0005461HP:0005461Craniofacial disproportion0H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome.
HP:0005461HP:0005461Craniofacial disproportion0IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome.9
HP:0005461HP:0005461Craniofacial disproportion0KCNA1 CL E G H37366218ORPHA:37612Episodic ataxia type 1HP:0040283 - Occasional145
HP:0005461HP:0005461Craniofacial disproportion0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040282 - Frequent645
HP:0005461HP:0005461Craniofacial disproportion0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040282 - Frequent83


Genes (7) :CA2 FIG4 H19-ICR IGF2 KCNA1 LMNA ZMPSTE24

Diseases (5) :ORPHA:2785 OMIM:216340 OMIM:180860 ORPHA:37612 ORPHA:740
 

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