Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal skull morphology (HP:0000929)

Grandparent Node:
Abnormality of the face (HP:0000271)

Parent Node:
Craniofacial dysostosis (HP:0004439)

..Starting node
..Congenital craniofacial dysostosis (HP:0008497)

Term ID:

8497

Name:

Congenital craniofacial dysostosis

Synonym:

Definition:

Comments:

Reference:

HP:0008497

Genes and Diseases:

Child Nodes:

Sister Nodes:

Mandibulofacial dysostosis (HP:0005321)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008497	HP:0008497	Congenital craniofacial dysostosis	0	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina	HP:0040284 - Very rare	132
HP:0008497	HP:0008497	Congenital craniofacial dysostosis	0	MSX2 CL E G H	4488	7392	ORPHA:60015	Enlarged parietal foramina	HP:0040284 - Very rare	45
HP:0008497	HP:0008497	Congenital craniofacial dysostosis	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	113
HP:0008497	HP:0008497	Congenital craniofacial dysostosis	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	134
HP:0008497	HP:0008497	Congenital craniofacial dysostosis	0	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040281 - Very frequent

Genes (5) :ALX4 MSX2 PDE4D PRKAR1A SLC25A24

Diseases (3) :ORPHA:60015 ORPHA:280651 ORPHA:2095

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