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 larynx morphology (HP:0025423)

Parent Node:
Abnormal epiglottis morphology (HP:0005483)

..Starting node
..Aplasia/Hypoplasia of the Epiglottis (HP:0010565)

Term ID:

10565

Name:

Aplasia/Hypoplasia of the Epiglottis

Synonym:

Definition:

This term applies if the Epiglottis is absent or hypoplastic.

Comments:

Reference:

HP:0010565

Genes and Diseases:

Child Nodes:

........

Hypoplasia of the epiglottis (HP:0005349)

........

Aplasia of the epiglottis (HP:0008753)

Sister Nodes:

Bifid epiglottis (HP:0010564)

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:0010565	HP:0010565	Aplasia/Hypoplasia of the Epiglottis	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0010565	HP:0010565	Aplasia/Hypoplasia of the Epiglottis	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV		27
HP:0010565	HP:0010565	Aplasia/Hypoplasia of the Epiglottis	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0010565	HP:0010565	Aplasia/Hypoplasia of the Epiglottis	0	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly		7
HP:0010565	HP:0010565	Aplasia/Hypoplasia of the Epiglottis	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0010565	HP:0010565	Aplasia/Hypoplasia of the Epiglottis	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome		17
HP:0010565	HP:0010565	Aplasia/Hypoplasia of the Epiglottis	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome		175
HP:0010565	HP:0010565	Aplasia/Hypoplasia of the Epiglottis	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome		145
HP:0010565	HP:0010565	Aplasia/Hypoplasia of the Epiglottis	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0010565	HP:0010565	Aplasia/Hypoplasia of the Epiglottis	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2		101
HP:0010565	HP:0010565	Aplasia/Hypoplasia of the Epiglottis	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly		101
HP:0010565	HP:0010565	Aplasia/Hypoplasia of the Epiglottis	0	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex		4
HP:0010565	HP:0010565	Aplasia/Hypoplasia of the Epiglottis	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0010565	HP:0010565	Aplasia/Hypoplasia of the Epiglottis	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0010565	HP:0008753	Aplasia of the epiglottis	1	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0010565	HP:0008753	Aplasia of the epiglottis	1	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0010565	HP:0005349	Hypoplasia of the epiglottis	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0010565	HP:0008753	Aplasia of the epiglottis	1	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly		7
HP:0010565	HP:0008753	Aplasia of the epiglottis	1	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	.	4
HP:0010565	HP:0005349	Hypoplasia of the epiglottis	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	17
HP:0010565	HP:0005349	Hypoplasia of the epiglottis	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	175
HP:0010565	HP:0005349	Hypoplasia of the epiglottis	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	145
HP:0010565	HP:0005349	Hypoplasia of the epiglottis	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0010565	HP:0005349	Hypoplasia of the epiglottis	1	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040283 - Occasional	101
HP:0010565	HP:0005349	Hypoplasia of the epiglottis	1	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	.	101
HP:0010565	HP:0005349	Hypoplasia of the epiglottis	1	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex	.	4
HP:0010565	HP:0005349	Hypoplasia of the epiglottis	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare	143
HP:0010565	HP:0005349	Hypoplasia of the epiglottis	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49

Genes (12) :C2CD3 CILK1 DYNC2LI1 EIF4A3 FGF10 FGFR2 FGFR3 GLI3 NEK1 PRRX1 SETBP1 SF3B4

Diseases (12) :ORPHA:434179 OMIM:615948 OMIM:612651 OMIM:617088 OMIM:268305 ORPHA:2363 OMIM:146510 ORPHA:2751 OMIM:263520 OMIM:202650 ORPHA:798 OMIM:154400

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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