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 the choanae (HP:0000415)

Parent Node:
Bilateral choanal atresia (HP:0004502)

Parent Node:
Choanal stenosis (HP:0000452)

..Starting node
..Bilateral choanal atresia/stenosis (HP:0200138)

Term ID:

200138

Name:

Bilateral choanal atresia/stenosis

Synonym:

Definition:

Comments:

Reference:

HP:0200138

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:0200138	HP:0200138	Bilateral choanal atresia/stenosis	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	27
HP:0200138	HP:0200138	Bilateral choanal atresia/stenosis	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	114
HP:0200138	HP:0200138	Bilateral choanal atresia/stenosis	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.	19

Genes (3) :DCHS1 FAT4 TXNL4A

Diseases (2) :ORPHA:314679 OMIM:608572

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