Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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
..Coronal craniosynostosis (HP:0004440)

Term ID:

4440

Name:

Coronal craniosynostosis

Synonym:

Coronal suture craniosynostosis; Coronal suture synostosis; Craniosynostosis of coronal suture

Definition:

Premature closure of the coronal suture of skull.

Comments:

Reference:

HP:0004440

Genes and Diseases:

Child Nodes:

........

Unicoronal synostosis (HP:0011315)

................... HP:0011316 Left unicoronal synostosis
................... HP:0011317 Right unicoronal synostosis

........

Bicoronal synostosis (HP:0011318)

Sister Nodes:

Lambdoidal craniosynostosis (HP:0004443)

Multiple suture craniosynostosis (HP:0011324)

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:0004440	HP:0004440	Coronal craniosynostosis	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040281 - Very frequent	132
HP:0004440	HP:0004440	Coronal craniosynostosis	0	BPNT2 CL E G H	54928	26019	OMIM:614078	Chondrodysplasia with joint dislocations, Gpapp type	.
HP:0004440	HP:0004440	Coronal craniosynostosis	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0004440	HP:0004440	Coronal craniosynostosis	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly		7
HP:0004440	HP:0004440	Coronal craniosynostosis	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0004440	HP:0004440	Coronal craniosynostosis	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.	27
HP:0004440	HP:0004440	Coronal craniosynostosis	0	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4		12
HP:0004440	HP:0004440	Coronal craniosynostosis	0	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome	.	172
HP:0004440	HP:0004440	Coronal craniosynostosis	0	FGFR1 CL E G H	2260	3688	ORPHA:93258	Pfeiffer syndrome type 1		172
HP:0004440	HP:0004440	Coronal craniosynostosis	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	175
HP:0004440	HP:0004440	Coronal craniosynostosis	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0004440	HP:0004440	Coronal craniosynostosis	0	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome	.	175
HP:0004440	HP:0004440	Coronal craniosynostosis	0	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome	.	175
HP:0004440	HP:0004440	Coronal craniosynostosis	0	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040281 - Very frequent	175
HP:0004440	HP:0004440	Coronal craniosynostosis	0	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome	.	175
HP:0004440	HP:0004440	Coronal craniosynostosis	0	FGFR2 CL E G H	2263	3689	ORPHA:93258	Pfeiffer syndrome type 1		175
HP:0004440	HP:0004440	Coronal craniosynostosis	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0004440	HP:0004440	Coronal craniosynostosis	0	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome	HP:0040282 - Frequent	145
HP:0004440	HP:0004440	Coronal craniosynostosis	0	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome	.	145
HP:0004440	HP:0004440	Coronal craniosynostosis	0	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive		2
HP:0004440	HP:0004440	Coronal craniosynostosis	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0004440	HP:0004440	Coronal craniosynostosis	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies	.	8
HP:0004440	HP:0004440	Coronal craniosynostosis	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.	21
HP:0004440	HP:0004440	Coronal craniosynostosis	0	MSX2 CL E G H	4488	7392	OMIM:604757	Craniosynostosis 2		45
HP:0004440	HP:0004440	Coronal craniosynostosis	0	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1	.	2
HP:0004440	HP:0004440	Coronal craniosynostosis	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0004440	HP:0004440	Coronal craniosynostosis	0	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type	HP:0040283 - Occasional	2
HP:0004440	HP:0004440	Coronal craniosynostosis	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	76
HP:0004440	HP:0004440	Coronal craniosynostosis	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0004440	HP:0004440	Coronal craniosynostosis	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0004440	HP:0004440	Coronal craniosynostosis	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:0004440	HP:0004440	Coronal craniosynostosis	0	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2	.	5
HP:0004440	HP:0004440	Coronal craniosynostosis	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0004440	HP:0004440	Coronal craniosynostosis	0	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040281 - Very frequent
HP:0004440	HP:0004440	Coronal craniosynostosis	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22
HP:0004440	HP:0004440	Coronal craniosynostosis	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type		6
HP:0004440	HP:0004440	Coronal craniosynostosis	0	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3		28
HP:0004440	HP:0004440	Coronal craniosynostosis	0	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26		28
HP:0004440	HP:0004440	Coronal craniosynostosis	0	TWIST1 CL E G H	7291	12428	OMIM:123100	Craniosynostosis 1		18
HP:0004440	HP:0004440	Coronal craniosynostosis	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18
HP:0004440	HP:0004440	Coronal craniosynostosis	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0004440	HP:0004440	Coronal craniosynostosis	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0004440	HP:0004440	Coronal craniosynostosis	0	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0004440	HP:0011315	Unicoronal synostosis	1	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.	7
HP:0004440	HP:0011318	Bicoronal synostosis	1	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4		12
HP:0004440	HP:0011318	Bicoronal synostosis	1	FGFR1 CL E G H	2260	3688	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040281 - Very frequent	172
HP:0004440	HP:0011318	Bicoronal synostosis	1	FGFR2 CL E G H	2263	3689	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040281 - Very frequent	175
HP:0004440	HP:0011318	Bicoronal synostosis	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0004440	HP:0011315	Unicoronal synostosis	1	MSX2 CL E G H	4488	7392	OMIM:604757	Craniosynostosis 2	.	45
HP:0004440	HP:0011318	Bicoronal synostosis	1	MSX2 CL E G H	4488	7392	OMIM:604757	Craniosynostosis 2	.	45
HP:0004440	HP:0011315	Unicoronal synostosis	1	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0004440	HP:0011318	Bicoronal synostosis	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0004440	HP:0011318	Bicoronal synostosis	1	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:0004440	HP:0011318	Bicoronal synostosis	1	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22
HP:0004440	HP:0011315	Unicoronal synostosis	1	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22
HP:0004440	HP:0011315	Unicoronal synostosis	1	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3		28
HP:0004440	HP:0011318	Bicoronal synostosis	1	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3		28
HP:0004440	HP:0011318	Bicoronal synostosis	1	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26		28
HP:0004440	HP:0011315	Unicoronal synostosis	1	TWIST1 CL E G H	7291	12428	OMIM:123100	Craniosynostosis 1		18
HP:0004440	HP:0011315	Unicoronal synostosis	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0004440	HP:0011315	Unicoronal synostosis	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0004440	HP:0011318	Bicoronal synostosis	1	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0004440	HP:0011316	Left unicoronal synostosis	2	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0004440	HP:0011317	Right unicoronal synostosis	2	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3		28
HP:0004440	HP:0011316	Left unicoronal synostosis	2	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3		28
HP:0004440	HP:0011317	Right unicoronal synostosis	2	TWIST1 CL E G H	7291	12428	OMIM:123100	Craniosynostosis 1		18
HP:0004440	HP:0011317	Right unicoronal synostosis	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040284 - Very rare	362
HP:0004440	HP:0011317	Right unicoronal synostosis	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040284 - Very rare	362

Genes (30) :ALX4 BPNT2 CCBE1 CEP120 CTSK EFNB1 ERF FGFR1 FGFR2 FGFR3 GTF2E2 H4C9 IL11RA MASP1 MSX2 P4HB PIGO POLA1 POR RAB23 RECQL4 SCUBE3 SEC24D SLC25A24 SMO SPECC1L TCF12 TWIST1 ZEB2 ZIC1

Diseases (39) :ORPHA:228390 OMIM:614078 OMIM:235510 OMIM:616300 ORPHA:763 OMIM:304110 OMIM:600775 OMIM:101600 ORPHA:93258 OMIM:207410 OMIM:101200 OMIM:614592 OMIM:123500 ORPHA:313855 OMIM:101400 ORPHA:53271 OMIM:602849 OMIM:616943 OMIM:619951 OMIM:614188 OMIM:257920 OMIM:604757 OMIM:112240 OMIM:614749 ORPHA:163976 OMIM:201000 OMIM:218600 OMIM:619184 OMIM:616294 OMIM:612289 ORPHA:2095 OMIM:601707 OMIM:145420 OMIM:615314 OMIM:619718 OMIM:123100 ORPHA:261552 ORPHA:261537 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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