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:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	28
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	34
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	247
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	342
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	57
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	ECM1 CL E G H	1893	3153	ORPHA:530	Lipoid proteinosis		14
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome		6
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome		2
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	LMNB2 CL E G H	84823	6638	OMIM:616540	Epilepsy, progressive myoclonic, 9		11
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	127
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040281 - Very frequent	5
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome		5
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040281 - Very frequent
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly		101
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome		41
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome		82
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome		4
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex		4
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2		68
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional	3
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	109
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	167
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included		22
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome		5
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	76
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	31
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	4
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	33
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	82
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	166
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	2
HP:0010295	HP:0010295	Aplasia/Hypoplasia of the tongue	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040281 - Very frequent	546
HP:0010295	HP:0000171	Microglossia	1	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0010295	HP:0000171	Microglossia	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome	.	159
HP:0010295	HP:0000171	Microglossia	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional	159
HP:0010295	HP:0000171	Microglossia	1	ECM1 CL E G H	1893	3153	ORPHA:530	Lipoid proteinosis	HP:0040282 - Frequent	14
HP:0010295	HP:0000171	Microglossia	1	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040283 - Occasional	6
HP:0010295	HP:0000171	Microglossia	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0010295	HP:0000171	Microglossia	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0010295	HP:0000171	Microglossia	1	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040283 - Occasional	2
HP:0010295	HP:0000171	Microglossia	1	LMNB2 CL E G H	84823	6638	OMIM:616540	Epilepsy, progressive myoclonic, 9	.	11
HP:0010295	HP:0000171	Microglossia	1	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.	5
HP:0010295	HP:0000171	Microglossia	1	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	HP:0040283 - Occasional	101
HP:0010295	HP:0000171	Microglossia	1	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent	41
HP:0010295	HP:0000171	Microglossia	1	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040283 - Occasional	82
HP:0010295	HP:0000171	Microglossia	1	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent	4
HP:0010295	HP:0012730	Aglossia	1	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex	.	4
HP:0010295	HP:0000171	Microglossia	1	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex	.	4
HP:0010295	HP:0000171	Microglossia	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0010295	HP:0000171	Microglossia	1	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2	.	68
HP:0010295	HP:0000171	Microglossia	1	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included	.	22
HP:0010295	HP:0000171	Microglossia	1	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.	5
HP:0010295	HP:0000171	Microglossia	1	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism	.	78