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
..Lambdoidal craniosynostosis (HP:0004443)

Term ID:

4443

Name:

Lambdoidal craniosynostosis

Synonym:

Lambdoid suture craniosynostosis; Lambdoid suture synostosis

Definition:

A kind of craniosynostosis affecting the lambdoidal suture.

Comments:

Reference:

HP:0004443

Genes and Diseases:

Child Nodes:

........

Bilambdoid synostosis (HP:0011319)

........

Unilambdoid synostosis (HP:0011320)

................... HP:0011321 Left unilambdoid synostosis
................... HP:0011322 Right unilambdoid synostosis

Sister Nodes:

Coronal craniosynostosis (HP:0004440)

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:0004443	HP:0004443	Lambdoidal craniosynostosis	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0004443	HP:0004443	Lambdoidal craniosynostosis	0	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4	.	12
HP:0004443	HP:0004443	Lambdoidal craniosynostosis	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	175
HP:0004443	HP:0004443	Lambdoidal craniosynostosis	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0004443	HP:0004443	Lambdoidal craniosynostosis	0	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome	.	175
HP:0004443	HP:0004443	Lambdoidal craniosynostosis	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0004443	HP:0004443	Lambdoidal craniosynostosis	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional	8
HP:0004443	HP:0004443	Lambdoidal craniosynostosis	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional	8
HP:0004443	HP:0004443	Lambdoidal craniosynostosis	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies	HP:0040283 - Occasional	8
HP:0004443	HP:0004443	Lambdoidal craniosynostosis	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0004443	HP:0004443	Lambdoidal craniosynostosis	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.	21
HP:0004443	HP:0004443	Lambdoidal craniosynostosis	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3		12
HP:0004443	HP:0004443	Lambdoidal craniosynostosis	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	76
HP:0004443	HP:0004443	Lambdoidal craniosynostosis	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0004443	HP:0004443	Lambdoidal craniosynostosis	0	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF		1
HP:0004443	HP:0004443	Lambdoidal craniosynostosis	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0004443	HP:0004443	Lambdoidal craniosynostosis	0	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2	.	5
HP:0004443	HP:0004443	Lambdoidal craniosynostosis	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18
HP:0004443	HP:0004443	Lambdoidal craniosynostosis	0	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0004443	HP:0011319	Bilambdoid synostosis	1	CL E G H
HP:0004443	HP:0011320	Unilambdoid synostosis	1	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0004443	HP:0011320	Unilambdoid synostosis	1	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF		1
HP:0004443	HP:0011322	Right unilambdoid synostosis	2	CL E G H
HP:0004443	HP:0011321	Left unilambdoid synostosis	2	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196

Genes (15) :BMP4 ERF FGFR2 HNRNPK IL11RA KRAS MASP1 PIGT POR RAB23 RAC3 RECQL4 SEC24D TWIST1 ZIC1

Diseases (17) :OMIM:607932 OMIM:600775 OMIM:207410 OMIM:101200 OMIM:123500 OMIM:101400 ORPHA:352665 ORPHA:453504 OMIM:614188 OMIM:609942 OMIM:257920 OMIM:615398 OMIM:201000 OMIM:618577 OMIM:218600 OMIM:616294 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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