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:
Aplasia/Hypoplasia of the cerebrum (HP:0007364)

Parent Node:
Abnormal cerebral cortex morphology (HP:0002538)

Parent Node:
Cerebral hypoplasia (HP:0006872)

..Starting node
..Open operculum (HP:0100954)

Term ID:

100954

Name:

Open operculum

Synonym:

Definition:

Underdevelopment of the operculum.

Comments:

Reference:

HP:0100954

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplasia of the frontal lobes (HP:0007333)

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:0100954	HP:0100954	Open operculum	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0100954	HP:0100954	Open operculum	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0100954	HP:0100954	Open operculum	0	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency	.	301
HP:0100954	HP:0100954	Open operculum	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	115
HP:0100954	HP:0100954	Open operculum	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24

Genes (5) :C2CD3 CSPP1 FH GCDH KIAA0586

Diseases (4) :ORPHA:434179 ORPHA:397715 OMIM:606812 ORPHA:25

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