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 larynx (HP:0001600)

Parent Node:
Abnormal larynx morphology (HP:0025423)

..Starting node
..Laryngeal cleft (HP:0008751)

Term ID:

8751

Name:

Laryngeal cleft

Synonym:

Laryngotracheal cleft; Laryngotracheoesophageal cleft i

Definition:

Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esopahagus.

Comments:

Reference:

HP:0008751

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal aryepiglottic fold morphology (HP:0008744)

Abnormal cricoid cartilage morphology (HP:3000038)

Abnormal epiglottis morphology (HP:0005483)

Abnormal lateral cricoarytenoid muscle morphology (HP:3000067)

Abnormal vocal cord morphology (HP:0008777)

Anteroposteriorly shortened larynx (HP:0005956)

Cartilaginous ossification of larynx (HP:0008747)

Laryngeal atresia (HP:0008750)

Laryngeal calcification (HP:0008754)

Laryngeal cartilage malformation (HP:0008752)

Laryngeal cyst (HP:0100640)

Laryngeal edema (HP:0012027)

Laryngeal hypoplasia (HP:0008749)

Laryngeal obstruction (HP:0005945)

Laryngeal stenosis (HP:0001602)

Laryngeal web (HP:0005950)

Laryngomalacia (HP:0001601)

Subglottic stenosis (HP:0001607)

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:0008751	HP:0008751	Laryngeal cleft	0	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0008751	HP:0008751	Laryngeal cleft	0	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3	.	6
HP:0008751	HP:0008751	Laryngeal cleft	0	FBXW7 CL E G H	55294	16712	OMIM:620012			22
HP:0008751	HP:0008751	Laryngeal cleft	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0008751	HP:0008751	Laryngeal cleft	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0008751	HP:0008751	Laryngeal cleft	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040282 - Frequent	57
HP:0008751	HP:0008751	Laryngeal cleft	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0008751	HP:0008751	Laryngeal cleft	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA

Genes (6) :CAPN15 EDN1 FBXW7 GLI3 MID1 SPTBN1

Diseases (8) :OMIM:619318 OMIM:615706 OMIM:620012 ORPHA:672 OMIM:146510 ORPHA:2745 OMIM:300000 OMIM:619475

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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