Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the head (HP:0000234)help
Parent Node:
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Abnormal skull morphology (HP:0000929)help
Parent Node:
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Abnormality of the face (HP:0000271)help
..Starting node
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Craniofacial dysostosis (HP:0004439)help
Term ID: 4439
Name: Craniofacial dysostosis
Synonym: Crouzon syndrome
Definition: A characteristic appearance resulting from defective ossification of craniofacial bones.
Comments:
Reference: HP:0004439
Genes and Diseases:
 
       Child Nodes:
........expandMandibulofacial dysostosis (HP:0005321) help
........expandCongenital craniofacial dysostosis (HP:0008497) help

 Sister Nodes: 
..expandAbnormal facial expression (HP:0005346) help
..expandAbnormal facial shape (HP:0001999) help
..expandAbnormal midface morphology (HP:0000309) help
..expandAbnormality of facial soft tissue (HP:0011799) help
..expandAbnormality of the chin (HP:0000306) help
..expandAbnormality of the forehead (HP:0000290) help
..expandAbnormality of the mouth (HP:0000153) help
..expandAbnormality of the nose (HP:0000366) help
..expandAbnormality of the orbital region (HP:0000315) help
..expandAbnormality of the periorbital region (HP:0000606) help
..expandAbnormality of the submandibular region (HP:0410013) help
..expandCraniofacial hyperostosis (HP:0004493) help
..expandFacial cleft (HP:0002006) 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:0004439HP:0004439Craniofacial dysostosis0ALX4 CL E G H60529450ORPHA:60015Enlarged parietal foramina132
HP:0004439HP:0004439Craniofacial dysostosis0EDNRA CL E G H19093179OMIM:616367Mandibulofacial dysostosis with alopecia3
HP:0004439HP:0004439Craniofacial dysostosis0EFTUD2 CL E G H934330858OMIM:610536Mandibulofacial dysostosis, Guion-Almeida type48
HP:0004439HP:0004439Craniofacial dysostosis0FGFR2 CL E G H22633689OMIM:123500Crouzon syndrome.175
HP:0004439HP:0004439Craniofacial dysostosis0IL11RA CL E G H35905967OMIM:614188Craniosynostosis and dental anomalies8
HP:0004439HP:0004439Craniofacial dysostosis0MSX2 CL E G H44887392ORPHA:60015Enlarged parietal foramina45
HP:0004439HP:0004439Craniofacial dysostosis0PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistance113
HP:0004439HP:0004439Craniofacial dysostosis0POLR1C CL E G H953320194OMIM:248390Treacher collins syndrome 338
HP:0004439HP:0004439Craniofacial dysostosis0PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistance134
HP:0004439HP:0004439Craniofacial dysostosis0RPS26 CL E G H623110414OMIM:613309Diamond-blackfan anemia 1020
HP:0004439HP:0004439Craniofacial dysostosis0SLC25A24 CL E G H2995720662ORPHA:2095Gorlin-Chaudhry-Moss syndrome
HP:0004439HP:0008497Congenital craniofacial dysostosis1ALX4 CL E G H60529450ORPHA:60015Enlarged parietal foraminaHP:0040284 - Very rare132
HP:0004439HP:0005321Mandibulofacial dysostosis1EDNRA CL E G H19093179OMIM:616367Mandibulofacial dysostosis with alopecia.3
HP:0004439HP:0005321Mandibulofacial dysostosis1EFTUD2 CL E G H934330858OMIM:610536Mandibulofacial dysostosis, Guion-Almeida type.48
HP:0004439HP:0008497Congenital craniofacial dysostosis1MSX2 CL E G H44887392ORPHA:60015Enlarged parietal foraminaHP:0040284 - Very rare45
HP:0004439HP:0008497Congenital craniofacial dysostosis1PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040281 - Very frequent113
HP:0004439HP:0005321Mandibulofacial dysostosis1POLR1C CL E G H953320194OMIM:248390Treacher collins syndrome 3.38
HP:0004439HP:0008497Congenital craniofacial dysostosis1PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040281 - Very frequent134
HP:0004439HP:0005321Mandibulofacial dysostosis1RPS26 CL E G H623110414OMIM:613309Diamond-blackfan anemia 10HP:0040283 - Occasional20
HP:0004439HP:0008497Congenital craniofacial dysostosis1SLC25A24 CL E G H2995720662ORPHA:2095Gorlin-Chaudhry-Moss syndromeHP:0040281 - Very frequent


Genes (11) :ALX4 EDNRA EFTUD2 FGFR2 IL11RA MSX2 PDE4D POLR1C PRKAR1A RPS26 SLC25A24

Diseases (9) :ORPHA:60015 OMIM:616367 OMIM:610536 OMIM:123500 OMIM:614188 ORPHA:280651 OMIM:248390 OMIM:613309 ORPHA:2095
 

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