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:
Abnormal tracheal morphology (HP:0002778)

Parent Node:
Laryngeal stenosis (HP:0001602)

Parent Node:
Tracheal stenosis (HP:0002777)

..Starting node
..Laryngotracheal stenosis (HP:0004894)

Term ID:

4894

Name:

Laryngotracheal stenosis

Synonym:

Definition:

Comments:

Reference:

HP:0004894

Genes and Diseases:

Child Nodes:

Sister Nodes:

Tracheal atresia (HP:0100682)

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:0004894	HP:0004894	Laryngotracheal stenosis	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0004894	HP:0004894	Laryngotracheal stenosis	0	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I	HP:0040283 - Occasional	233
HP:0004894	HP:0004894	Laryngotracheal stenosis	0	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia	.	166
HP:0004894	HP:0004894	Laryngotracheal stenosis	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.	504

Genes (4) :EXTL3 FLNB SLC26A2 SMAD4

Diseases (4) :ORPHA:508533 ORPHA:1190 OMIM:222600 OMIM:139210

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