Human Phenotype Ontology

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:0005483	HP:0005483	Abnormal epiglottis morphology	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040283 - Occasional	78
HP:0005483	HP:0005483	Abnormal epiglottis morphology	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0005483	HP:0005483	Abnormal epiglottis morphology	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV		27
HP:0005483	HP:0005483	Abnormal epiglottis morphology	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0005483	HP:0005483	Abnormal epiglottis morphology	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0005483	HP:0005483	Abnormal epiglottis morphology	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0005483	HP:0005483	Abnormal epiglottis morphology	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0005483	HP:0005483	Abnormal epiglottis morphology	0	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly		7
HP:0005483	HP:0005483	Abnormal epiglottis morphology	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0005483	HP:0005483	Abnormal epiglottis morphology	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome		17
HP:0005483	HP:0005483	Abnormal epiglottis morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome		175
HP:0005483	HP:0005483	Abnormal epiglottis morphology	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome		145
HP:0005483	HP:0005483	Abnormal epiglottis morphology	0	FOXE1 CL E G H	2304	3806	OMIM:241850	Hypothyroidism, athyroidal, with spiky hair and cleft palate		9
HP:0005483	HP:0005483	Abnormal epiglottis morphology	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0005483	HP:0005483	Abnormal epiglottis morphology	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0005483	HP:0005483	Abnormal epiglottis morphology	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0005483	HP:0005483	Abnormal epiglottis morphology	0	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040283 - Occasional	110
HP:0005483	HP:0005483	Abnormal epiglottis morphology	0	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040283 - Occasional	173
HP:0005483	HP:0005483	Abnormal epiglottis morphology	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2		101
HP:0005483	HP:0005483	Abnormal epiglottis morphology	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly		101
HP:0005483	HP:0005483	Abnormal epiglottis morphology	0	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex		4
HP:0005483	HP:0005483	Abnormal epiglottis morphology	0	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1	HP:0040283 - Occasional	64
HP:0005483	HP:0005483	Abnormal epiglottis morphology	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0005483	HP:0005483	Abnormal epiglottis morphology	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0005483	HP:0005483	Abnormal epiglottis morphology	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0005483	HP:0010565	Aplasia/Hypoplasia of the Epiglottis	1	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0005483	HP:0010565	Aplasia/Hypoplasia of the Epiglottis	1	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV		27
HP:0005483	HP:0010565	Aplasia/Hypoplasia of the Epiglottis	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0005483	HP:0010564	Bifid epiglottis	1	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	304
HP:0005483	HP:0010564	Bifid epiglottis	1	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0005483	HP:0010564	Bifid epiglottis	1	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0005483	HP:0010565	Aplasia/Hypoplasia of the Epiglottis	1	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly		7
HP:0005483	HP:0010565	Aplasia/Hypoplasia of the Epiglottis	1	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0005483	HP:0010565	Aplasia/Hypoplasia of the Epiglottis	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome		17
HP:0005483	HP:0010565	Aplasia/Hypoplasia of the Epiglottis	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome		175
HP:0005483	HP:0010565	Aplasia/Hypoplasia of the Epiglottis	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome		145
HP:0005483	HP:0010564	Bifid epiglottis	1	FOXE1 CL E G H	2304	3806	OMIM:241850	Hypothyroidism, athyroidal, with spiky hair and cleft palate	.	9
HP:0005483	HP:0010565	Aplasia/Hypoplasia of the Epiglottis	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0005483	HP:0010564	Bifid epiglottis	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0005483	HP:0010564	Bifid epiglottis	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0005483	HP:0010564	Bifid epiglottis	1	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	65
HP:0005483	HP:0010565	Aplasia/Hypoplasia of the Epiglottis	1	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2		101
HP:0005483	HP:0010565	Aplasia/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:0005483	HP:0010565	Aplasia/Hypoplasia of the Epiglottis	1	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex		4
HP:0005483	HP:0010565	Aplasia/Hypoplasia of the Epiglottis	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0005483	HP:0010565	Aplasia/Hypoplasia of the Epiglottis	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0005483	HP:0010564	Bifid epiglottis	1	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	136
HP:0005483	HP:0008753	Aplasia of the epiglottis	2	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0005483	HP:0008753	Aplasia of the epiglottis	2	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0005483	HP:0005349	Hypoplasia of the epiglottis	2	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0005483	HP:0008753	Aplasia of the epiglottis	2	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly		7
HP:0005483	HP:0008753	Aplasia of the epiglottis	2	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	.	4
HP:0005483	HP:0005349	Hypoplasia of the epiglottis	2	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	17
HP:0005483	HP:0005349	Hypoplasia of the epiglottis	2	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	175
HP:0005483	HP:0005349	Hypoplasia of the epiglottis	2	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	145
HP:0005483	HP:0005349	Hypoplasia of the epiglottis	2	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0005483	HP:0005349	Hypoplasia of the epiglottis	2	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040283 - Occasional	101
HP:0005483	HP:0005349	Hypoplasia of the epiglottis	2	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	.	101
HP:0005483	HP:0005349	Hypoplasia of the epiglottis	2	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex	.	4
HP:0005483	HP:0005349	Hypoplasia of the epiglottis	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare	143
HP:0005483	HP:0005349	Hypoplasia of the epiglottis	2	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49