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 the fontanelles or cranial sutures (HP:0000235)

Parent Node:
Abnormality of cranial sutures (HP:0011329)

..Starting node
..Ridged cranial sutures (HP:0010823)

Term ID:

10823

Name:

Ridged cranial sutures

Synonym:

Cranial suture ridges

Definition:

An overlap of the bony plates of the skull in an infant, with or without early closure.

Comments:

Reference:

HP:0010823

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of the metopic suture (HP:0005556)

Accessory cranial suture (HP:0012800)

Craniosynostosis (HP:0001363)

Delayed cranial suture closure (HP:0000270)

Sclerotic cranial sutures (HP:0005441)

Wide cranial sutures (HP:0010537)

Widely patent coronal suture (HP:0005442)

Widely patent sagittal suture (HP:0005476)

Wormian bones (HP:0002645)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010823	HP:0010823	Ridged cranial sutures	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12	2

Genes (1) :BICRA

Diseases (1) :OMIM:619325

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