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:
Craniosynostosis (HP:0001363)

Parent Node:
Lambdoidal craniosynostosis (HP:0004443)

..Starting node
..Unilambdoid synostosis (HP:0011320)

Term ID:

11320

Name:

Unilambdoid synostosis

Synonym:

Unilateral lambdoid craniosynostosis; Unilateral lambdoid suture synostosis

Definition:

Premature synostosis of only one lambdoid suture.

Comments:

Reference:

HP:0011320

Genes and Diseases:

Child Nodes:

........

Left unilambdoid synostosis (HP:0011321)

........

Right unilambdoid synostosis (HP:0011322)

Sister Nodes:

Bilambdoid synostosis (HP:0011319)

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:0011320	HP:0011320	Unilambdoid synostosis	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3	196
HP:0011320	HP:0011320	Unilambdoid synostosis	0	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF	1
HP:0011320	HP:0011322	Right unilambdoid synostosis	1	CL E G H
HP:0011320	HP:0011321	Left unilambdoid synostosis	1	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3	196

Genes (2) :KRAS RAC3

Diseases (2) :OMIM:609942 OMIM:618577

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