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:0000162	HP:0000162	Glossoptosis	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional	6
HP:0000162	HP:0000162	Glossoptosis	0	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040281 - Very frequent	109
HP:0000162	HP:0000162	Glossoptosis	0	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	HP:0040282 - Frequent	215
HP:0000162	HP:0000162	Glossoptosis	0	COL11A2 CL E G H	1302	2187	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia	HP:0040282 - Frequent	222
HP:0000162	HP:0000162	Glossoptosis	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040283 - Occasional	222
HP:0000162	HP:0000162	Glossoptosis	0	COL2A1 CL E G H	1280	2200	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia	HP:0040282 - Frequent	284
HP:0000162	HP:0000162	Glossoptosis	0	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type	HP:0040282 - Frequent	284
HP:0000162	HP:0000162	Glossoptosis	0	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040283 - Occasional	284
HP:0000162	HP:0000162	Glossoptosis	0	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	6
HP:0000162	HP:0000162	Glossoptosis	0	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3	.	6
HP:0000162	HP:0000162	Glossoptosis	0	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia	HP:0040283 - Occasional	3
HP:0000162	HP:0000162	Glossoptosis	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	111
HP:0000162	HP:0000162	Glossoptosis	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040282 - Frequent	493
HP:0000162	HP:0000162	Glossoptosis	0	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	2
HP:0000162	HP:0000162	Glossoptosis	0	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1		2
HP:0000162	HP:0000162	Glossoptosis	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.	5
HP:0000162	HP:0000162	Glossoptosis	0	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040282 - Frequent	5
HP:0000162	HP:0000162	Glossoptosis	0	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040282 - Frequent
HP:0000162	HP:0000162	Glossoptosis	0	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	.
HP:0000162	HP:0000162	Glossoptosis	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0000162	HP:0000162	Glossoptosis	0	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)	.	59
HP:0000162	HP:0000162	Glossoptosis	0	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	82
HP:0000162	HP:0000162	Glossoptosis	0	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2		82
HP:0000162	HP:0000162	Glossoptosis	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional
HP:0000162	HP:0000162	Glossoptosis	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	38
HP:0000162	HP:0000162	Glossoptosis	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	31
HP:0000162	HP:0000162	Glossoptosis	0	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.	16
HP:0000162	HP:0000162	Glossoptosis	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040282 - Frequent	16
HP:0000162	HP:0000162	Glossoptosis	0	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2	.
HP:0000162	HP:0000162	Glossoptosis	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040283 - Occasional	90
HP:0000162	HP:0000162	Glossoptosis	0	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome	HP:0040282 - Frequent	6
HP:0000162	HP:0000162	Glossoptosis	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.	6
HP:0000162	HP:0000162	Glossoptosis	0	SOX9 CL E G H	6662	11204	ORPHA:718	Isolated Pierre Robin syndrome	HP:0040281 - Very frequent	109
HP:0000162	HP:0000162	Glossoptosis	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	140
HP:0000162	HP:0000162	Glossoptosis	0	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome	.	6
HP:0000162	HP:0000162	Glossoptosis	0	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome	HP:0040281 - Very frequent	6
HP:0000162	HP:0000162	Glossoptosis	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	6