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:
Abnormality of cranial sutures (HP:0011329)

Grandparent Node:
obsolete Abnormality of calvarial morphology (HP:0002648)

Parent Node:
Craniosynostosis (HP:0001363)

..Starting node
..Multiple suture craniosynostosis (HP:0011324)

Term ID:

11324

Name:

Multiple suture craniosynostosis

Synonym:

Multisutural craniosynostosis

Definition:

Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified.

Comments:

Reference:

HP:0011324

Genes and Diseases:

Child Nodes:

........

Pansynostosis (HP:0011325)

Sister Nodes:

Coronal craniosynostosis (HP:0004440)

Lambdoidal craniosynostosis (HP:0004443)

Orbital craniosynostosis (HP:0005472)

Sagittal craniosynostosis (HP:0004442)

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:0011324	HP:0011324	Multiple suture craniosynostosis	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0011324	HP:0011324	Multiple suture craniosynostosis	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0011324	HP:0011324	Multiple suture craniosynostosis	0	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4		12
HP:0011324	HP:0011324	Multiple suture craniosynostosis	0	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040281 - Very frequent	12
HP:0011324	HP:0011324	Multiple suture craniosynostosis	0	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040281 - Very frequent	175
HP:0011324	HP:0011324	Multiple suture craniosynostosis	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0011324	HP:0011324	Multiple suture craniosynostosis	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0011324	HP:0011324	Multiple suture craniosynostosis	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0011324	HP:0011324	Multiple suture craniosynostosis	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0011324	HP:0011324	Multiple suture craniosynostosis	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0011324	HP:0011324	Multiple suture craniosynostosis	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0011324	HP:0011324	Multiple suture craniosynostosis	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0011324	HP:0011325	Pansynostosis	1	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4	HP:0040283 - Occasional	12

Genes (11) :ARVCF COMT ERF FGFR2 GP1BB HIRA JMJD1C RREB1 SEC24C TBX1 UFD1

Diseases (3) :ORPHA:567 OMIM:600775 ORPHA:207

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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