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:
Craniosynostosis (HP:0001363)

Parent Node:
Coronal craniosynostosis (HP:0004440)

..Starting node
..Bicoronal synostosis (HP:0011318)

Term ID:

11318

Name:

Bicoronal synostosis

Synonym:

Bilateral coronal craniosynostosis; Bilateral coronal suture craniosynostosis; Bilateral coronal suture synostosis

Definition:

Synostosis affecting the right and the left coronal suture.

Comments:

Reference:

HP:0011318

Genes and Diseases:

Child Nodes:

Sister Nodes:

Unicoronal synostosis (HP:0011315)

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:0011318	HP:0011318	Bicoronal synostosis	0	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4		12
HP:0011318	HP:0011318	Bicoronal synostosis	0	FGFR1 CL E G H	2260	3688	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040281 - Very frequent	172
HP:0011318	HP:0011318	Bicoronal synostosis	0	FGFR2 CL E G H	2263	3689	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040281 - Very frequent	175
HP:0011318	HP:0011318	Bicoronal synostosis	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0011318	HP:0011318	Bicoronal synostosis	0	MSX2 CL E G H	4488	7392	OMIM:604757	Craniosynostosis 2	.	45
HP:0011318	HP:0011318	Bicoronal synostosis	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0011318	HP:0011318	Bicoronal synostosis	0	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2		1
HP:0011318	HP:0011318	Bicoronal synostosis	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22
HP:0011318	HP:0011318	Bicoronal synostosis	0	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3		28
HP:0011318	HP:0011318	Bicoronal synostosis	0	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26		28
HP:0011318	HP:0011318	Bicoronal synostosis	0	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5

Genes (10) :ERF FGFR1 FGFR2 H4C9 MSX2 RECQL4 SCUBE3 SMO TCF12 ZIC1

Diseases (10) :OMIM:600775 ORPHA:93258 OMIM:619951 OMIM:604757 OMIM:218600 OMIM:619184 OMIM:601707 OMIM:615314 OMIM:619718 OMIM:618736

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

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