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)

Parent Node:
Large fontanelles (HP:0000239)

Parent Node:
Wide cranial sutures (HP:0010537)

..Starting node
..Widely patent fontanelles and sutures (HP:0004492)

Term ID:

4492

Name:

Widely patent fontanelles and sutures

Synonym:

Widely patent fontanels and sutures

Definition:

An abnormally increased width of the cranial fontanelles and sutures.

Comments:

Reference:

HP:0004492

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0004492	HP:0004492	Widely patent fontanelles and sutures	0	ACE CL E G H	1636	2707	OMIM:267430	Renal tubular dysgenesis	.	113
HP:0004492	HP:0004492	Widely patent fontanelles and sutures	0	AGT CL E G H	183	333	OMIM:267430	Renal tubular dysgenesis	.	48
HP:0004492	HP:0004492	Widely patent fontanelles and sutures	0	AGTR1 CL E G H	185	336	OMIM:267430	Renal tubular dysgenesis	.	33
HP:0004492	HP:0004492	Widely patent fontanelles and sutures	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.	126
HP:0004492	HP:0004492	Widely patent fontanelles and sutures	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0004492	HP:0004492	Widely patent fontanelles and sutures	0	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.	5
HP:0004492	HP:0004492	Widely patent fontanelles and sutures	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	645
HP:0004492	HP:0004492	Widely patent fontanelles and sutures	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0004492	HP:0004492	Widely patent fontanelles and sutures	0	MSX2 CL E G H	4488	7392	OMIM:168550	Parietal foramina with cleidocranial dysplasia		45
HP:0004492	HP:0004492	Widely patent fontanelles and sutures	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0004492	HP:0004492	Widely patent fontanelles and sutures	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent	138
HP:0004492	HP:0004492	Widely patent fontanelles and sutures	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0004492	HP:0004492	Widely patent fontanelles and sutures	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040283 - Occasional	16
HP:0004492	HP:0004492	Widely patent fontanelles and sutures	0	REN CL E G H	5972	9958	OMIM:267430	Renal tubular dysgenesis	.	25
HP:0004492	HP:0004492	Widely patent fontanelles and sutures	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0004492	HP:0004492	Widely patent fontanelles and sutures	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.	52
HP:0004492	HP:0004492	Widely patent fontanelles and sutures	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104
HP:0004492	HP:0004492	Widely patent fontanelles and sutures	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	83

Genes (17) :ACE AGT AGTR1 ALPL CYP27B1 CYP2R1 LMNA MED12 MSX2 PEX1 POLR3A RBM10 REN SETBP1 SLC34A3 VDR ZMPSTE24

Diseases (14) :OMIM:267430 OMIM:241500 OMIM:264700 OMIM:600081 ORPHA:1662 ORPHA:93932 OMIM:168550 OMIM:214100 ORPHA:3455 OMIM:264090 ORPHA:2886 OMIM:269150 OMIM:241530 OMIM:277440

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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