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 epiglottis morphology (HP:0005483)

Parent Node:
Aplasia/Hypoplasia of the Epiglottis (HP:0010565)

..Starting node
..Aplasia of the epiglottis (HP:0008753)

Term ID:

8753

Name:

Aplasia of the epiglottis

Synonym:

Absent epiglottis

Definition:

Absence of the epiglottis.

Comments:

Reference:

HP:0008753

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplasia of the epiglottis (HP:0005349)

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:0008753	HP:0008753	Aplasia of the epiglottis	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0008753	HP:0008753	Aplasia of the epiglottis	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0008753	HP:0008753	Aplasia of the epiglottis	0	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly		7
HP:0008753	HP:0008753	Aplasia of the epiglottis	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	.	4

Genes (3) :C2CD3 DYNC2LI1 EIF4A3

Diseases (4) :ORPHA:434179 OMIM:615948 OMIM:617088 OMIM:268305

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