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:0030809	HP:0030809	Abnormal tongue morphology	0	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus		245
HP:0030809	HP:0030809	Abnormal tongue morphology	0	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome		72
HP:0030809	HP:0030809	Abnormal tongue morphology	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0030809	HP:0030809	Abnormal tongue morphology	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria		88
HP:0030809	HP:0030809	Abnormal tongue morphology	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0030809	HP:0030809	Abnormal tongue morphology	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome		6
HP:0030809	HP:0030809	Abnormal tongue morphology	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0030809	HP:0030809	Abnormal tongue morphology	0	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria		76
HP:0030809	HP:0030809	Abnormal tongue morphology	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy		85
HP:0030809	HP:0030809	Abnormal tongue morphology	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly		95
HP:0030809	HP:0030809	Abnormal tongue morphology	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0030809	HP:0030809	Abnormal tongue morphology	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6		54
HP:0030809	HP:0030809	Abnormal tongue morphology	0	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG		37
HP:0030809	HP:0030809	Abnormal tongue morphology	0	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG		66
HP:0030809	HP:0030809	Abnormal tongue morphology	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG		46
HP:0030809	HP:0030809	Abnormal tongue morphology	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny		9
HP:0030809	HP:0030809	Abnormal tongue morphology	0	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome		25
HP:0030809	HP:0030809	Abnormal tongue morphology	0	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9		21
HP:0030809	HP:0030809	Abnormal tongue morphology	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0030809	HP:0030809	Abnormal tongue morphology	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0030809	HP:0030809	Abnormal tongue morphology	0	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome		5
HP:0030809	HP:0030809	Abnormal tongue morphology	0	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2		5
HP:0030809	HP:0030809	Abnormal tongue morphology	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome		169
HP:0030809	HP:0030809	Abnormal tongue morphology	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0030809	HP:0030809	Abnormal tongue morphology	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0030809	HP:0030809	Abnormal tongue morphology	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0030809	HP:0030809	Abnormal tongue morphology	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0030809	HP:0030809	Abnormal tongue morphology	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0030809	HP:0030809	Abnormal tongue morphology	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0030809	HP:0030809	Abnormal tongue morphology	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		5
HP:0030809	HP:0030809	Abnormal tongue morphology	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0030809	HP:0030809	Abnormal tongue morphology	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy		105
HP:0030809	HP:0030809	Abnormal tongue morphology	0	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia		109
HP:0030809	HP:0030809	Abnormal tongue morphology	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0030809	HP:0030809	Abnormal tongue morphology	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0030809	HP:0030809	Abnormal tongue morphology	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV		27
HP:0030809	HP:0030809	Abnormal tongue morphology	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy		11
HP:0030809	HP:0030809	Abnormal tongue morphology	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy		48
HP:0030809	HP:0030809	Abnormal tongue morphology	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0030809	HP:0030809	Abnormal tongue morphology	0	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2		33
HP:0030809	HP:0030809	Abnormal tongue morphology	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0030809	HP:0030809	Abnormal tongue morphology	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0030809	HP:0030809	Abnormal tongue morphology	0	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome		4
HP:0030809	HP:0030809	Abnormal tongue morphology	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0030809	HP:0030809	Abnormal tongue morphology	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly		7
HP:0030809	HP:0030809	Abnormal tongue morphology	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0030809	HP:0030809	Abnormal tongue morphology	0	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome		4
HP:0030809	HP:0030809	Abnormal tongue morphology	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0030809	HP:0030809	Abnormal tongue morphology	0	CLTRN CL E G H	57393	29437	ORPHA:2116	Hartnup disease
HP:0030809	HP:0030809	Abnormal tongue morphology	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe		64
HP:0030809	HP:0030809	Abnormal tongue morphology	0	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome		215
HP:0030809	HP:0030809	Abnormal tongue morphology	0	COL11A2 CL E G H	1302	2187	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia		222
HP:0030809	HP:0030809	Abnormal tongue morphology	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia		222
HP:0030809	HP:0030809	Abnormal tongue morphology	0	COL2A1 CL E G H	1280	2200	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia		284
HP:0030809	HP:0030809	Abnormal tongue morphology	0	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type		284
HP:0030809	HP:0030809	Abnormal tongue morphology	0	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita		284
HP:0030809	HP:0030809	Abnormal tongue morphology	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form		263
HP:0030809	HP:0030809	Abnormal tongue morphology	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		263
HP:0030809	HP:0030809	Abnormal tongue morphology	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0030809	HP:0030809	Abnormal tongue morphology	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0030809	HP:0030809	Abnormal tongue morphology	0	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0030809	HP:0030809	Abnormal tongue morphology	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0030809	HP:0030809	Abnormal tongue morphology	0	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20
HP:0030809	HP:0030809	Abnormal tongue morphology	0	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
HP:0030809	HP:0030809	Abnormal tongue morphology	0	CSNK2B CL E G H	1460	2460	OMIM:618732	POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS		2
HP:0030809	HP:0030809	Abnormal tongue morphology	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0030809	HP:0030809	Abnormal tongue morphology	0	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome		273
HP:0030809	HP:0030809	Abnormal tongue morphology	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0030809	HP:0030809	Abnormal tongue morphology	0	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5		2
HP:0030809	HP:0030809	Abnormal tongue morphology	0	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V		2
HP:0030809	HP:0030809	Abnormal tongue morphology	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0030809	HP:0030809	Abnormal tongue morphology	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0030809	HP:0030809	Abnormal tongue morphology	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0030809	HP:0030809	Abnormal tongue morphology	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0030809	HP:0030809	Abnormal tongue morphology	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0030809	HP:0030809	Abnormal tongue morphology	0	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome		79
HP:0030809	HP:0030809	Abnormal tongue morphology	0	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0030809	HP:0030809	Abnormal tongue morphology	0	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial		91
HP:0030809	HP:0030809	Abnormal tongue morphology	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis		121
HP:0030809	HP:0030809	Abnormal tongue morphology	0	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism		121
HP:0030809	HP:0030809	Abnormal tongue morphology	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis		11
HP:0030809	HP:0030809	Abnormal tongue morphology	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0030809	HP:0030809	Abnormal tongue morphology	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0030809	HP:0030809	Abnormal tongue morphology	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0030809	HP:0030809	Abnormal tongue morphology	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0030809	HP:0030809	Abnormal tongue morphology	0	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3		304
HP:0030809	HP:0030809	Abnormal tongue morphology	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0030809	HP:0030809	Abnormal tongue morphology	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0030809	HP:0030809	Abnormal tongue morphology	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0030809	HP:0030809	Abnormal tongue morphology	0	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D		37
HP:0030809	HP:0030809	Abnormal tongue morphology	0	ECM1 CL E G H	1893	3153	ORPHA:530	Lipoid proteinosis		14
HP:0030809	HP:0030809	Abnormal tongue morphology	0	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome		6
HP:0030809	HP:0030809	Abnormal tongue morphology	0	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3		6
HP:0030809	HP:0030809	Abnormal tongue morphology	0	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia		3
HP:0030809	HP:0030809	Abnormal tongue morphology	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0030809	HP:0030809	Abnormal tongue morphology	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion		223
HP:0030809	HP:0030809	Abnormal tongue morphology	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0030809	HP:0030809	Abnormal tongue morphology	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0030809	HP:0030809	Abnormal tongue morphology	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0030809	HP:0030809	Abnormal tongue morphology	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18		18
HP:0030809	HP:0030809	Abnormal tongue morphology	0	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome		18
HP:0030809	HP:0030809	Abnormal tongue morphology	0	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B		38
HP:0030809	HP:0030809	Abnormal tongue morphology	0	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia		8
HP:0030809	HP:0030809	Abnormal tongue morphology	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0030809	HP:0030809	Abnormal tongue morphology	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome		35
HP:0030809	HP:0030809	Abnormal tongue morphology	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0030809	HP:0030809	Abnormal tongue morphology	0	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0030809	HP:0030809	Abnormal tongue morphology	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome		2
HP:0030809	HP:0030809	Abnormal tongue morphology	0	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome		2
HP:0030809	HP:0030809	Abnormal tongue morphology	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0030809	HP:0030809	Abnormal tongue morphology	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0030809	HP:0030809	Abnormal tongue morphology	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		157
HP:0030809	HP:0030809	Abnormal tongue morphology	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		157
HP:0030809	HP:0030809	Abnormal tongue morphology	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5		157
HP:0030809	HP:0030809	Abnormal tongue morphology	0	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5		157
HP:0030809	HP:0030809	Abnormal tongue morphology	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0030809	HP:0030809	Abnormal tongue morphology	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0030809	HP:0030809	Abnormal tongue morphology	0	FOXE1 CL E G H	2304	3806	ORPHA:95713	Athyreosis		9
HP:0030809	HP:0030809	Abnormal tongue morphology	0	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion		177
HP:0030809	HP:0030809	Abnormal tongue morphology	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome		353
HP:0030809	HP:0030809	Abnormal tongue morphology	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome		263
HP:0030809	HP:0030809	Abnormal tongue morphology	0	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1		1
HP:0030809	HP:0030809	Abnormal tongue morphology	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0030809	HP:0030809	Abnormal tongue morphology	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS		43
HP:0030809	HP:0030809	Abnormal tongue morphology	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0030809	HP:0030809	Abnormal tongue morphology	0	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset		407
HP:0030809	HP:0030809	Abnormal tongue morphology	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II		407
HP:0030809	HP:0030809	Abnormal tongue morphology	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0030809	HP:0030809	Abnormal tongue morphology	0	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant		199
HP:0030809	HP:0030809	Abnormal tongue morphology	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1		120
HP:0030809	HP:0030809	Abnormal tongue morphology	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II		120
HP:0030809	HP:0030809	Abnormal tongue morphology	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0030809	HP:0030809	Abnormal tongue morphology	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0030809	HP:0030809	Abnormal tongue morphology	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		34
HP:0030809	HP:0030809	Abnormal tongue morphology	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		34
HP:0030809	HP:0030809	Abnormal tongue morphology	0	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome		2
HP:0030809	HP:0030809	Abnormal tongue morphology	0	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1		2
HP:0030809	HP:0030809	Abnormal tongue morphology	0	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA		173
HP:0030809	HP:0030809	Abnormal tongue morphology	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0030809	HP:0030809	Abnormal tongue morphology	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0030809	HP:0030809	Abnormal tongue morphology	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0030809	HP:0030809	Abnormal tongue morphology	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0030809	HP:0030809	Abnormal tongue morphology	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0030809	HP:0030809	Abnormal tongue morphology	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0030809	HP:0030809	Abnormal tongue morphology	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly		5
HP:0030809	HP:0030809	Abnormal tongue morphology	0	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS		32
HP:0030809	HP:0030809	Abnormal tongue morphology	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome		80
HP:0030809	HP:0030809	Abnormal tongue morphology	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis		53
HP:0030809	HP:0030809	Abnormal tongue morphology	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0030809	HP:0030809	Abnormal tongue morphology	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0030809	HP:0030809	Abnormal tongue morphology	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0030809	HP:0030809	Abnormal tongue morphology	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII		54
HP:0030809	HP:0030809	Abnormal tongue morphology	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0030809	HP:0030809	Abnormal tongue morphology	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0030809	HP:0030809	Abnormal tongue morphology	0	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome		6
HP:0030809	HP:0030809	Abnormal tongue morphology	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		21
HP:0030809	HP:0030809	Abnormal tongue morphology	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease		80
HP:0030809	HP:0030809	Abnormal tongue morphology	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis		4
HP:0030809	HP:0030809	Abnormal tongue morphology	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis		2
HP:0030809	HP:0030809	Abnormal tongue morphology	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion		8
HP:0030809	HP:0030809	Abnormal tongue morphology	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation		8
HP:0030809	HP:0030809	Abnormal tongue morphology	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome		113
HP:0030809	HP:0030809	Abnormal tongue morphology	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome		113
HP:0030809	HP:0030809	Abnormal tongue morphology	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0030809	HP:0030809	Abnormal tongue morphology	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0030809	HP:0030809	Abnormal tongue morphology	0	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0030809	HP:0030809	Abnormal tongue morphology	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form		86
HP:0030809	HP:0030809	Abnormal tongue morphology	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form		86
HP:0030809	HP:0030809	Abnormal tongue morphology	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II		86
HP:0030809	HP:0030809	Abnormal tongue morphology	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0030809	HP:0030809	Abnormal tongue morphology	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome		115
HP:0030809	HP:0030809	Abnormal tongue morphology	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0030809	HP:0030809	Abnormal tongue morphology	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0030809	HP:0030809	Abnormal tongue morphology	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0030809	HP:0030809	Abnormal tongue morphology	0	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0030809	HP:0030809	Abnormal tongue morphology	0	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0030809	HP:0030809	Abnormal tongue morphology	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0030809	HP:0030809	Abnormal tongue morphology	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome		229
HP:0030809	HP:0030809	Abnormal tongue morphology	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0030809	HP:0030809	Abnormal tongue morphology	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis		130
HP:0030809	HP:0030809	Abnormal tongue morphology	0	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome		13
HP:0030809	HP:0030809	Abnormal tongue morphology	0	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus		127
HP:0030809	HP:0030809	Abnormal tongue morphology	0	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS		114
HP:0030809	HP:0030809	Abnormal tongue morphology	0	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome		7
HP:0030809	HP:0030809	Abnormal tongue morphology	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0030809	HP:0030809	Abnormal tongue morphology	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0030809	HP:0030809	Abnormal tongue morphology	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0030809	HP:0030809	Abnormal tongue morphology	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6		4
HP:0030809	HP:0030809	Abnormal tongue morphology	0	KIAA0753 CL E G H	9851	29110	OMIM:617127	Orofaciodigital syndrome XV		4
HP:0030809	HP:0030809	Abnormal tongue morphology	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0030809	HP:0030809	Abnormal tongue morphology	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6		167
HP:0030809	HP:0030809	Abnormal tongue morphology	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome		1
HP:0030809	HP:0030809	Abnormal tongue morphology	0	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		110
HP:0030809	HP:0030809	Abnormal tongue morphology	0	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		173
HP:0030809	HP:0030809	Abnormal tongue morphology	0	KRT6A CL E G H	3853	6443	OMIM:615726	Pachyonychia congenita 3		41
HP:0030809	HP:0030809	Abnormal tongue morphology	0	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome		3
HP:0030809	HP:0030809	Abnormal tongue morphology	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0030809	HP:0030809	Abnormal tongue morphology	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy		411
HP:0030809	HP:0030809	Abnormal tongue morphology	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		136
HP:0030809	HP:0030809	Abnormal tongue morphology	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		51
HP:0030809	HP:0030809	Abnormal tongue morphology	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		43
HP:0030809	HP:0030809	Abnormal tongue morphology	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome		144
HP:0030809	HP:0030809	Abnormal tongue morphology	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0030809	HP:0030809	Abnormal tongue morphology	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0030809	HP:0030809	Abnormal tongue morphology	0	LIMS2 CL E G H	55679	16084	OMIM:616827	Muscular dystrophy, limb-girdle, type 2W		10
HP:0030809	HP:0030809	Abnormal tongue morphology	0	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF		46
HP:0030809	HP:0030809	Abnormal tongue morphology	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0030809	HP:0030809	Abnormal tongue morphology	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0030809	HP:0030809	Abnormal tongue morphology	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0030809	HP:0030809	Abnormal tongue morphology	0	LMNB2 CL E G H	84823	6638	OMIM:616540	Epilepsy, progressive myoclonic, 9		11
HP:0030809	HP:0030809	Abnormal tongue morphology	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0030809	HP:0030809	Abnormal tongue morphology	0	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form		136
HP:0030809	HP:0030809	Abnormal tongue morphology	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form		136
HP:0030809	HP:0030809	Abnormal tongue morphology	0	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0030809	HP:0030809	Abnormal tongue morphology	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		2
HP:0030809	HP:0030809	Abnormal tongue morphology	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0030809	HP:0030809	Abnormal tongue morphology	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q		3
HP:0030809	HP:0030809	Abnormal tongue morphology	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency		74
HP:0030809	HP:0030809	Abnormal tongue morphology	0	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects		74
HP:0030809	HP:0030809	Abnormal tongue morphology	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0030809	HP:0030809	Abnormal tongue morphology	0	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20		132
HP:0030809	HP:0030809	Abnormal tongue morphology	0	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0030809	HP:0030809	Abnormal tongue morphology	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0030809	HP:0030809	Abnormal tongue morphology	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0030809	HP:0030809	Abnormal tongue morphology	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa		39
HP:0030809	HP:0030809	Abnormal tongue morphology	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0030809	HP:0030809	Abnormal tongue morphology	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0030809	HP:0030809	Abnormal tongue morphology	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0030809	HP:0030809	Abnormal tongue morphology	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0030809	HP:0030809	Abnormal tongue morphology	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0030809	HP:0030809	Abnormal tongue morphology	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		6
HP:0030809	HP:0030809	Abnormal tongue morphology	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z		8
HP:0030809	HP:0030809	Abnormal tongue morphology	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome		5
HP:0030809	HP:0030809	Abnormal tongue morphology	0	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome		5
HP:0030809	HP:0030809	Abnormal tongue morphology	0	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome
HP:0030809	HP:0030809	Abnormal tongue morphology	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0030809	HP:0030809	Abnormal tongue morphology	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F		118
HP:0030809	HP:0030809	Abnormal tongue morphology	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2		101
HP:0030809	HP:0030809	Abnormal tongue morphology	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly		101
HP:0030809	HP:0030809	Abnormal tongue morphology	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10		9
HP:0030809	HP:0030809	Abnormal tongue morphology	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2		43
HP:0030809	HP:0030809	Abnormal tongue morphology	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2		43
HP:0030809	HP:0030809	Abnormal tongue morphology	0	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0030809	HP:0030809	Abnormal tongue morphology	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0030809	HP:0030809	Abnormal tongue morphology	0	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome		40
HP:0030809	HP:0030809	Abnormal tongue morphology	0	NKX2-1 CL E G H	7080	11825	ORPHA:95713	Athyreosis		51
HP:0030809	HP:0030809	Abnormal tongue morphology	0	NKX2-5 CL E G H	1482	2488	ORPHA:95713	Athyreosis		90
HP:0030809	HP:0030809	Abnormal tongue morphology	0	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia		90
HP:0030809	HP:0030809	Abnormal tongue morphology	0	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36		9
HP:0030809	HP:0030809	Abnormal tongue morphology	0	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36		9
HP:0030809	HP:0030809	Abnormal tongue morphology	0	NRXN1 CL E G H	9378	8008	OMIM:614325	Pitt-Hopkins-Like syndrome 2		470
HP:0030809	HP:0030809	Abnormal tongue morphology	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0030809	HP:0030809	Abnormal tongue morphology	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion		121
HP:0030809	HP:0030809	Abnormal tongue morphology	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I		201
HP:0030809	HP:0030809	Abnormal tongue morphology	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1		201
HP:0030809	HP:0030809	Abnormal tongue morphology	0	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6		201
HP:0030809	HP:0030809	Abnormal tongue morphology	0	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12		62
HP:0030809	HP:0030809	Abnormal tongue morphology	0	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome		41
HP:0030809	HP:0030809	Abnormal tongue morphology	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis		3
HP:0030809	HP:0030809	Abnormal tongue morphology	0	PANK2 CL E G H	80025	15894	ORPHA:216873	Atypical pantothenate kinase-associated neurodegeneration		55
HP:0030809	HP:0030809	Abnormal tongue morphology	0	PAX8 CL E G H	7849	8622	ORPHA:95713	Athyreosis		63
HP:0030809	HP:0030809	Abnormal tongue morphology	0	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2		63
HP:0030809	HP:0030809	Abnormal tongue morphology	0	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia		63
HP:0030809	HP:0030809	Abnormal tongue morphology	0	PAX8 CL E G H	7849	8622	ORPHA:95720	Thyroid hypoplasia		63
HP:0030809	HP:0030809	Abnormal tongue morphology	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0030809	HP:0030809	Abnormal tongue morphology	0	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6		1
HP:0030809	HP:0030809	Abnormal tongue morphology	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0030809	HP:0030809	Abnormal tongue morphology	0	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)		59
HP:0030809	HP:0030809	Abnormal tongue morphology	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria		11
HP:0030809	HP:0030809	Abnormal tongue morphology	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0030809	HP:0030809	Abnormal tongue morphology	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0030809	HP:0030809	Abnormal tongue morphology	0	PIGW CL E G H	284098	23213	OMIM:616025	Glycosylphosphatidylinositol biosynthesis defect 11		6
HP:0030809	HP:0030809	Abnormal tongue morphology	0	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0030809	HP:0030809	Abnormal tongue morphology	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome		162
HP:0030809	HP:0030809	Abnormal tongue morphology	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5		162
HP:0030809	HP:0030809	Abnormal tongue morphology	0	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome	HP:0040283 - Occasional	107
HP:0030809	HP:0030809	Abnormal tongue morphology	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0030809	HP:0030809	Abnormal tongue morphology	0	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0030809	HP:0030809	Abnormal tongue morphology	0	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome		82
HP:0030809	HP:0030809	Abnormal tongue morphology	0	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2		82
HP:0030809	HP:0030809	Abnormal tongue morphology	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0030809	HP:0030809	Abnormal tongue morphology	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0030809	HP:0030809	Abnormal tongue morphology	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome		38
HP:0030809	HP:0030809	Abnormal tongue morphology	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome		31
HP:0030809	HP:0030809	Abnormal tongue morphology	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		180
HP:0030809	HP:0030809	Abnormal tongue morphology	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		18
HP:0030809	HP:0030809	Abnormal tongue morphology	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		213
HP:0030809	HP:0030809	Abnormal tongue morphology	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		213
HP:0030809	HP:0030809	Abnormal tongue morphology	0	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1		213
HP:0030809	HP:0030809	Abnormal tongue morphology	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		221
HP:0030809	HP:0030809	Abnormal tongue morphology	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		221
HP:0030809	HP:0030809	Abnormal tongue morphology	0	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2		221
HP:0030809	HP:0030809	Abnormal tongue morphology	0	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2		221
HP:0030809	HP:0030809	Abnormal tongue morphology	0	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2		6
HP:0030809	HP:0030809	Abnormal tongue morphology	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		36
HP:0030809	HP:0030809	Abnormal tongue morphology	0	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1		36
HP:0030809	HP:0030809	Abnormal tongue morphology	0	POU4F1 CL E G H	5457	9218	OMIM:619352	ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0030809	HP:0030809	Abnormal tongue morphology	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy		42
HP:0030809	HP:0030809	Abnormal tongue morphology	0	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type		28
HP:0030809	HP:0030809	Abnormal tongue morphology	0	PRKAG2 CL E G H	51422	9386	OMIM:261740	Glycogen storage disease of heart, lethal congenital		235
HP:0030809	HP:0030809	Abnormal tongue morphology	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0030809	HP:0030809	Abnormal tongue morphology	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		54
HP:0030809	HP:0030809	Abnormal tongue morphology	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0030809	HP:0030809	Abnormal tongue morphology	0	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome		4
HP:0030809	HP:0030809	Abnormal tongue morphology	0	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex		4
HP:0030809	HP:0030809	Abnormal tongue morphology	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0030809	HP:0030809	Abnormal tongue morphology	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0030809	HP:0030809	Abnormal tongue morphology	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome		948
HP:0030809	HP:0030809	Abnormal tongue morphology	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1		948
HP:0030809	HP:0030809	Abnormal tongue morphology	0	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease		948
HP:0030809	HP:0030809	Abnormal tongue morphology	0	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia		58
HP:0030809	HP:0030809	Abnormal tongue morphology	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis		3
HP:0030809	HP:0030809	Abnormal tongue morphology	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome		90
HP:0030809	HP:0030809	Abnormal tongue morphology	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome		135
HP:0030809	HP:0030809	Abnormal tongue morphology	0	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0030809	HP:0030809	Abnormal tongue morphology	0	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2		68
HP:0030809	HP:0030809	Abnormal tongue morphology	0	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome		16
HP:0030809	HP:0030809	Abnormal tongue morphology	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome		16
HP:0030809	HP:0030809	Abnormal tongue morphology	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0030809	HP:0030809	Abnormal tongue morphology	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome		3
HP:0030809	HP:0030809	Abnormal tongue morphology	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0030809	HP:0030809	Abnormal tongue morphology	0	RIPK4 CL E G H	54101	496	ORPHA:1401	CHAND syndrome		69
HP:0030809	HP:0030809	Abnormal tongue morphology	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia		37
HP:0030809	HP:0030809	Abnormal tongue morphology	0	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome		5
HP:0030809	HP:0030809	Abnormal tongue morphology	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0030809	HP:0030809	Abnormal tongue morphology	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0030809	HP:0030809	Abnormal tongue morphology	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0030809	HP:0030809	Abnormal tongue morphology	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0030809	HP:0030809	Abnormal tongue morphology	0	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0030809	HP:0030809	Abnormal tongue morphology	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0030809	HP:0030809	Abnormal tongue morphology	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0030809	HP:0030809	Abnormal tongue morphology	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia		90
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome		237
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome		147
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome		129
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome		60
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29		143
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5		83
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C		493
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C		493
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SLC26A4 CL E G H	5172	8818	ORPHA:95713	Athyreosis		274
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SLC26A4 CL E G H	5172	8818	ORPHA:95720	Thyroid hypoplasia		274
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica		55
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption		101
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1		51
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis		59
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SLC5A5 CL E G H	6528	11040	OMIM:274400	Thyroid hormonogenesis, genetic defect in, 1		59
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SLC6A19 CL E G H	340024	27960	ORPHA:2116	Hartnup disease		12
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SLC6A19 CL E G H	340024	27960	OMIM:234500	Hartnup disorder		12
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4		617
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3		87
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included		22
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism		3
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome		6
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome		6
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome		37
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome		14
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20		14
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency		11
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SOX9 CL E G H	6662	11204	ORPHA:718	Isolated Pierre Robin syndrome		109
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0030809	HP:0030809	Abnormal tongue morphology	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria		50
HP:0030809	HP:0030809	Abnormal tongue morphology	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TAF1 CL E G H	6872	11535	ORPHA:53351	X-linked dystonia-parkinsonism		21
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3		13
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome		13
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome		5
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TBX22 CL E G H	50945	11600	OMIM:303400	Cleft palate, X-linked		28
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome		140
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18		31
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TCTN3 CL E G H	26123	24519	OMIM:258860	Orofaciodigital syndrome IV		31
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6		31
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder		12
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis		155
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome		6
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome		6
HP:0030809	HP:0030809	Abnormal tongue morphology	0	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6		9
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6		45
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3		33
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6		61
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis		92
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TRAF3IP2 CL E G H	10758	1343	OMIM:615527	Candidiasis, familial, 8		4
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA		133
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency		101
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4		9
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency		9
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TSHR CL E G H	7253	12373	ORPHA:95713	Athyreosis		97
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations		97
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TSHR CL E G H	7253	12373	ORPHA:95720	Thyroid hypoplasia		97
HP:0030809	HP:0030809	Abnormal tongue morphology	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0030809	HP:0030809	Abnormal tongue morphology	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome		278
HP:0030809	HP:0030809	Abnormal tongue morphology	0	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation		278
HP:0030809	HP:0030809	Abnormal tongue morphology	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion		278
HP:0030809	HP:0030809	Abnormal tongue morphology	0	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15		278
HP:0030809	HP:0030809	Abnormal tongue morphology	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome		1
HP:0030809	HP:0030809	Abnormal tongue morphology	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0030809	HP:0030809	Abnormal tongue morphology	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0030809	HP:0030809	Abnormal tongue morphology	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome		546
HP:0030809	HP:0030809	Abnormal tongue morphology	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders		1
HP:0030809	HP:0030809	Abnormal tongue morphology	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0030809	HP:0030809	Abnormal tongue morphology	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0030809	HP:0030809	Abnormal tongue morphology	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0030809	HP:0030809	Abnormal tongue morphology	0	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71
HP:0030809	HP:0030809	Abnormal tongue morphology	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0030809	HP:0030809	Abnormal tongue morphology	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0030809	HP:0030809	Abnormal tongue morphology	0	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome		9
HP:0030809	HP:0030809	Abnormal tongue morphology	0	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus		30
HP:0030809	HP:0030809	Abnormal tongue morphology	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0030809	HP:0030809	Abnormal tongue morphology	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0030809	HP:0009087	Posteriorly placed tongue	1	CL E G H
HP:0030809	HP:3000076	Abnormality of lingual tonsil	1	CL E G H
HP:0030809	HP:3000074	Abnormal lingual artery morphology	1	CL E G H
HP:0030809	HP:0040294	Duplicated tongue	1	CL E G H
HP:0030809	HP:3000051	Abnormal hyoglossus muscle morphology	1	CL E G H
HP:0030809	HP:0031373	Stiff tongue	1	CL E G H
HP:0030809	HP:0031042	Strawberry tongue	1	CL E G H
HP:0030809	HP:0000158	Macroglossia	1	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent	245
HP:0030809	HP:0000158	Macroglossia	1	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome	HP:0040281 - Very frequent	72
HP:0030809	HP:0000227	Tongue telangiectasia	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0030809	HP:0010808	Protruding tongue	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	88
HP:0030809	HP:0010296	Ankyloglossia	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0030809	HP:0000162	Glossoptosis	1	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:0030809	HP:0000158	Macroglossia	1	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:0030809	HP:0000158	Macroglossia	1	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.	76
HP:0030809	HP:0000158	Macroglossia	1	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040282 - Frequent	76
HP:0030809	HP:0000158	Macroglossia	1	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	85
HP:0030809	HP:0000158	Macroglossia	1	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	95
HP:0030809	HP:0000221	Furrowed tongue	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	54
HP:0030809	HP:0000158	Macroglossia	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	54
HP:0030809	HP:0000221	Furrowed tongue	1	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.	54
HP:0030809	HP:0000158	Macroglossia	1	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040284 - Very rare	37
HP:0030809	HP:0000158	Macroglossia	1	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040283 - Occasional	66
HP:0030809	HP:0000158	Macroglossia	1	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional	46
HP:0030809	HP:0010297	Bifid tongue	1	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent	9
HP:0030809	HP:0000206	Glossitis	1	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040283 - Occasional	25
HP:0030809	HP:0000158	Macroglossia	1	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9	.	21
HP:0030809	HP:0000158	Macroglossia	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2	.	88
HP:0030809	HP:0000158	Macroglossia	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.	120
HP:0030809	HP:0000158	Macroglossia	1	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional	5
HP:0030809	HP:0000158	Macroglossia	1	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2	.	5
HP:0030809	HP:0000158	Macroglossia	1	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040282 - Frequent	169
HP:0030809	HP:0000158	Macroglossia	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0030809	HP:0010808	Protruding tongue	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0030809	HP:0010808	Protruding tongue	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0030809	HP:0000158	Macroglossia	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0030809	HP:0000221	Furrowed tongue	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	28
HP:0030809	HP:0010295	Aplasia/Hypoplasia of the tongue	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	28
HP:0030809	HP:0010295	Aplasia/Hypoplasia of the tongue	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	34
HP:0030809	HP:0000221	Furrowed tongue	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	34
HP:0030809	HP:0000158	Macroglossia	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0030809	HP:0000158	Macroglossia	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0030809	HP:0010296	Ankyloglossia	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0030809	HP:0010295	Aplasia/Hypoplasia of the tongue	1	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0030809	HP:0000158	Macroglossia	1	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	105
HP:0030809	HP:0000162	Glossoptosis	1	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040281 - Very frequent	109
HP:0030809	HP:0000158	Macroglossia	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0030809	HP:0010297	Bifid tongue	1	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0030809	HP:0000180	Lobulated tongue	1	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0030809	HP:0000180	Lobulated tongue	1	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0030809	HP:0010297	Bifid tongue	1	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0030809	HP:0000158	Macroglossia	1	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	11
HP:0030809	HP:0000158	Macroglossia	1	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	48
HP:0030809	HP:0010295	Aplasia/Hypoplasia of the tongue	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	247
HP:0030809	HP:0000221	Furrowed tongue	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	247
HP:0030809	HP:0010808	Protruding tongue	1	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.	33
HP:0030809	HP:0000158	Macroglossia	1	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0030809	HP:0010296	Ankyloglossia	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0030809	HP:0010808	Protruding tongue	1	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	4
HP:0030809	HP:0000158	Macroglossia	1	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	4
HP:0030809	HP:0000158	Macroglossia	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.	114
HP:0030809	HP:0000180	Lobulated tongue	1	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.	7
HP:0030809	HP:0010297	Bifid tongue	1	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.	7
HP:0030809	HP:0010295	Aplasia/Hypoplasia of the tongue	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	342
HP:0030809	HP:0000221	Furrowed tongue	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	342
HP:0030809	HP:0010808	Protruding tongue	1	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	HP:0040283 - Occasional	4
HP:0030809	HP:0000158	Macroglossia	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0030809	HP:0000206	Glossitis	1	CLTRN CL E G H	57393	29437	ORPHA:2116	Hartnup disease	HP:0040283 - Occasional
HP:0030809	HP:0010808	Protruding tongue	1	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.	64
HP:0030809	HP:0000162	Glossoptosis	1	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:0030809	HP:0000162	Glossoptosis	1	COL11A2 CL E G H	1302	2187	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia	HP:0040282 - Frequent	222
HP:0030809	HP:0000162	Glossoptosis	1	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040283 - Occasional	222
HP:0030809	HP:0000162	Glossoptosis	1	COL2A1 CL E G H	1280	2200	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia	HP:0040282 - Frequent	284
HP:0030809	HP:0000162	Glossoptosis	1	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type	HP:0040282 - Frequent	284
HP:0030809	HP:0000162	Glossoptosis	1	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040283 - Occasional	284
HP:0030809	HP:0010296	Ankyloglossia	1	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040283 - Occasional	263
HP:0030809	HP:0010296	Ankyloglossia	1	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	263
HP:0030809	HP:0000180	Lobulated tongue	1	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0030809	HP:0000199	Tongue nodules	1	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0030809	HP:0000180	Lobulated tongue	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0030809	HP:0000199	Tongue nodules	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0030809	HP:0000158	Macroglossia	1	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0030809	HP:0010296	Ankyloglossia	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0030809	HP:0000158	Macroglossia	1	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20	HP:0040282 - Frequent
HP:0030809	HP:0000158	Macroglossia	1	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7	.
HP:0030809	HP:0010808	Protruding tongue	1	CSNK2B CL E G H	1460	2460	OMIM:618732	POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS		2
HP:0030809	HP:0000221	Furrowed tongue	1	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	57
HP:0030809	HP:0010295	Aplasia/Hypoplasia of the tongue	1	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	57
HP:0030809	HP:0000206	Glossitis	1	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040283 - Occasional	273
HP:0030809	HP:0000158	Macroglossia	1	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type	.	38
HP:0030809	HP:0010297	Bifid tongue	1	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5	HP:0040282 - Frequent	2
HP:0030809	HP:0010297	Bifid tongue	1	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V		2
HP:0030809	HP:0010296	Ankyloglossia	1	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V		2
HP:0030809	HP:0000180	Lobulated tongue	1	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V	.	2
HP:0030809	HP:0010297	Bifid tongue	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional	159
HP:0030809	HP:0010295	Aplasia/Hypoplasia of the tongue	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0030809	HP:0010295	Aplasia/Hypoplasia of the tongue	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0030809	HP:0000158	Macroglossia	1	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0030809	HP:0000158	Macroglossia	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent	1
HP:0030809	HP:0000158	Macroglossia	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0030809	HP:0000158	Macroglossia	1	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	79
HP:0030809	HP:0010808	Protruding tongue	1	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	79
HP:0030809	HP:0010808	Protruding tongue	1	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome	.	79
HP:0030809	HP:0000158	Macroglossia	1	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome	.	79
HP:0030809	HP:0012473	Tongue atrophy	1	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial		91
HP:0030809	HP:0000158	Macroglossia	1	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	121
HP:0030809	HP:0000158	Macroglossia	1	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism	HP:0040283 - Occasional	121
HP:0030809	HP:0000158	Macroglossia	1	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	11
HP:0030809	HP:0010297	Bifid tongue	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	14
HP:0030809	HP:0000158	Macroglossia	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0030809	HP:0010297	Bifid tongue	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0030809	HP:0010297	Bifid tongue	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	5
HP:0030809	HP:0010297	Bifid tongue	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0030809	HP:0010297	Bifid tongue	1	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3	HP:0040283 - Occasional	304
HP:0030809	HP:0010297	Bifid tongue	1	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	304
HP:0030809	HP:0010297	Bifid tongue	1	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0030809	HP:0010297	Bifid tongue	1	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0030809	HP:0012473	Tongue atrophy	1	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D		37
HP:0030809	HP:0000221	Furrowed tongue	1	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D	.	37
HP:0030809	HP:0010295	Aplasia/Hypoplasia of the tongue	1	ECM1 CL E G H	1893	3153	ORPHA:530	Lipoid proteinosis		14
HP:0030809	HP:0000199	Tongue nodules	1	ECM1 CL E G H	1893	3153	ORPHA:530	Lipoid proteinosis	HP:0040281 - Very frequent	14
HP:0030809	HP:0010295	Aplasia/Hypoplasia of the tongue	1	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome		6
HP:0030809	HP:0000162	Glossoptosis	1	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	6
HP:0030809	HP:0000162	Glossoptosis	1	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3	.	6
HP:0030809	HP:0000162	Glossoptosis	1	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia	HP:0040283 - Occasional	3
HP:0030809	HP:0000158	Macroglossia	1	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0030809	HP:0010808	Protruding tongue	1	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0030809	HP:0000158	Macroglossia	1	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040282 - Frequent	223
HP:0030809	HP:0010808	Protruding tongue	1	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040282 - Frequent	223
HP:0030809	HP:0000158	Macroglossia	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0030809	HP:0000158	Macroglossia	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	172
HP:0030809	HP:0000227	Tongue telangiectasia	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0030809	HP:0000158	Macroglossia	1	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040282 - Frequent	18
HP:0030809	HP:0000158	Macroglossia	1	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	HP:0040282 - Frequent	18
HP:0030809	HP:0012473	Tongue atrophy	1	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B	.	38
HP:0030809	HP:0010296	Ankyloglossia	1	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia	.	8
HP:0030809	HP:0000199	Tongue nodules	1	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0030809	HP:0000180	Lobulated tongue	1	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0030809	HP:0010808	Protruding tongue	1	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	.	35
HP:0030809	HP:0010808	Protruding tongue	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0030809	HP:0000158	Macroglossia	1	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	.
HP:0030809	HP:0000158	Macroglossia	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040283 - Occasional	2
HP:0030809	HP:0000158	Macroglossia	1	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	.	2
HP:0030809	HP:0000162	Glossoptosis	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	111
HP:0030809	HP:0000158	Macroglossia	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0030809	HP:0000158	Macroglossia	1	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	157
HP:0030809	HP:0040173	Abnormality of the tongue muscle	1	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	157
HP:0030809	HP:0000158	Macroglossia	1	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.	157
HP:0030809	HP:0000158	Macroglossia	1	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	.	157
HP:0030809	HP:0000162	Glossoptosis	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040282 - Frequent	493
HP:0030809	HP:0000158	Macroglossia	1	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional
HP:0030809	HP:0000158	Macroglossia	1	FOXE1 CL E G H	2304	3806	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent	9
HP:0030809	HP:0000158	Macroglossia	1	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion	HP:0040282 - Frequent	177
HP:0030809	HP:0010297	Bifid tongue	1	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	353
HP:0030809	HP:0010297	Bifid tongue	1	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	263
HP:0030809	HP:0012473	Tongue atrophy	1	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1	.	1
HP:0030809	HP:0010808	Protruding tongue	1	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath	.	70
HP:0030809	HP:0000158	Macroglossia	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.	43
HP:0030809	HP:0010297	Bifid tongue	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0030809	HP:0000158	Macroglossia	1	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040282 - Frequent	407
HP:0030809	HP:0000158	Macroglossia	1	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II	.	407
HP:0030809	HP:0010808	Protruding tongue	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.	29
HP:0030809	HP:0000158	Macroglossia	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.	29
HP:0030809	HP:0000221	Furrowed tongue	1	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant	.	199
HP:0030809	HP:0000158	Macroglossia	1	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040283 - Occasional	120
HP:0030809	HP:0010808	Protruding tongue	1	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II		120
HP:0030809	HP:0010295	Aplasia/Hypoplasia of the tongue	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0030809	HP:0010295	Aplasia/Hypoplasia of the tongue	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0030809	HP:0000158	Macroglossia	1	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	34
HP:0030809	HP:0040173	Abnormality of the tongue muscle	1	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	34
HP:0030809	HP:0010295	Aplasia/Hypoplasia of the tongue	1	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome		2
HP:0030809	HP:0000162	Glossoptosis	1	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	2
HP:0030809	HP:0000162	Glossoptosis	1	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1		2
HP:0030809	HP:0000158	Macroglossia	1	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA		173
HP:0030809	HP:0000158	Macroglossia	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0030809	HP:0000158	Macroglossia	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0030809	HP:0000158	Macroglossia	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040281 - Very frequent	73
HP:0030809	HP:0000221	Furrowed tongue	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0030809	HP:0000158	Macroglossia	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0030809	HP:0000158	Macroglossia	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040281 - Very frequent
HP:0030809	HP:0000221	Furrowed tongue	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0030809	HP:0000158	Macroglossia	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0030809	HP:0000158	Macroglossia	1	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	5
HP:0030809	HP:0010808	Protruding tongue	1	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS		32
HP:0030809	HP:0010297	Bifid tongue	1	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	80
HP:0030809	HP:0012473	Tongue atrophy	1	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040283 - Occasional	53
HP:0030809	HP:0000158	Macroglossia	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0030809	HP:0000158	Macroglossia	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0030809	HP:0000158	Macroglossia	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0030809	HP:0000158	Macroglossia	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII		54
HP:0030809	HP:0000158	Macroglossia	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0030809	HP:0010296	Ankyloglossia	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0030809	HP:0000158	Macroglossia	1	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	6
HP:0030809	HP:0010808	Protruding tongue	1	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	6
HP:0030809	HP:0000158	Macroglossia	1	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	21
HP:0030809	HP:0000158	Macroglossia	1	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease	.	80
HP:0030809	HP:0000206	Glossitis	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	4
HP:0030809	HP:0000206	Glossitis	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	2
HP:0030809	HP:0000158	Macroglossia	1	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040282 - Frequent	8
HP:0030809	HP:0010297	Bifid tongue	1	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional	8
HP:0030809	HP:0000221	Furrowed tongue	1	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion		8
HP:0030809	HP:0010297	Bifid tongue	1	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional	8
HP:0030809	HP:0000221	Furrowed tongue	1	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation		8
HP:0030809	HP:0000158	Macroglossia	1	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040282 - Frequent	8
HP:0030809	HP:0000158	Macroglossia	1	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040282 - Frequent	113
HP:0030809	HP:0000158	Macroglossia	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0030809	HP:0000158	Macroglossia	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0030809	HP:0000158	Macroglossia	1	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0030809	HP:0000158	Macroglossia	1	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent
HP:0030809	HP:0000158	Macroglossia	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040282 - Frequent	86
HP:0030809	HP:0000158	Macroglossia	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040282 - Frequent	86
HP:0030809	HP:0000158	Macroglossia	1	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.	86
HP:0030809	HP:0000158	Macroglossia	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0030809	HP:0000158	Macroglossia	1	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040282 - Frequent	115
HP:0030809	HP:0000158	Macroglossia	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	.	148
HP:0030809	HP:0010297	Bifid tongue	1	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	65
HP:0030809	HP:0000158	Macroglossia	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.	9
HP:0030809	HP:0000221	Furrowed tongue	1	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0030809	HP:0025252	Geographic tongue	1	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0030809	HP:0000158	Macroglossia	1	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0030809	HP:0000158	Macroglossia	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.	111
HP:0030809	HP:0010808	Protruding tongue	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.	111
HP:0030809	HP:0000158	Macroglossia	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional	229
HP:0030809	HP:0000221	Furrowed tongue	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional	229
HP:0030809	HP:0010297	Bifid tongue	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0030809	HP:0000158	Macroglossia	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0030809	HP:0000158	Macroglossia	1	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	130
HP:0030809	HP:0000158	Macroglossia	1	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional	13
HP:0030809	HP:0000158	Macroglossia	1	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent	127
HP:0030809	HP:0000158	Macroglossia	1	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS		114
HP:0030809	HP:0000158	Macroglossia	1	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional	7
HP:0030809	HP:0000158	Macroglossia	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.	730
HP:0030809	HP:0000158	Macroglossia	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.	1
HP:0030809	HP:0000221	Furrowed tongue	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0030809	HP:0000199	Tongue nodules	1	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	4
HP:0030809	HP:0000180	Lobulated tongue	1	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	4
HP:0030809	HP:0000180	Lobulated tongue	1	KIAA0753 CL E G H	9851	29110	OMIM:617127	Orofaciodigital syndrome XV	.	4
HP:0030809	HP:0010808	Protruding tongue	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0030809	HP:0000199	Tongue nodules	1	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	167
HP:0030809	HP:0000180	Lobulated tongue	1	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	167
HP:0030809	HP:0000158	Macroglossia	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	1
HP:0030809	HP:0000221	Furrowed tongue	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	1
HP:0030809	HP:0010298	Smooth tongue	1	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040283 - Occasional	110
HP:0030809	HP:0010298	Smooth tongue	1	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040283 - Occasional	173
HP:0030809	HP:0000221	Furrowed tongue	1	KRT6A CL E G H	3853	6443	OMIM:615726	Pachyonychia congenita 3	.	41
HP:0030809	HP:0012473	Tongue atrophy	1	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	HP:0040282 - Frequent	3
HP:0030809	HP:0012473	Tongue atrophy	1	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0030809	HP:0000158	Macroglossia	1	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040282 - Frequent	411
HP:0030809	HP:0010808	Protruding tongue	1	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040283 - Occasional	411
HP:0030809	HP:0040173	Abnormality of the tongue muscle	1	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	136
HP:0030809	HP:0000158	Macroglossia	1	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	51
HP:0030809	HP:0000158	Macroglossia	1	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	43
HP:0030809	HP:0010298	Smooth tongue	1	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040282 - Frequent	144
HP:0030809	HP:0010298	Smooth tongue	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0030809	HP:0000158	Macroglossia	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0030809	HP:0000158	Macroglossia	1	LIMS2 CL E G H	55679	16084	OMIM:616827	Muscular dystrophy, limb-girdle, type 2W		10
HP:0030809	HP:0000206	Glossitis	1	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF	HP:0040283 - Occasional	46
HP:0030809	HP:0000206	Glossitis	1	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type	.	46
HP:0030809	HP:0010296	Ankyloglossia	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	645
HP:0030809	HP:0010808	Protruding tongue	1	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0030809	HP:0010295	Aplasia/Hypoplasia of the tongue	1	LMNB2 CL E G H	84823	6638	OMIM:616540	Epilepsy, progressive myoclonic, 9		11
HP:0030809	HP:0000158	Macroglossia	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.	136
HP:0030809	HP:0000158	Macroglossia	1	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form	HP:0040283 - Occasional	136
HP:0030809	HP:0000158	Macroglossia	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0030809	HP:0000158	Macroglossia	1	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0030809	HP:0010296	Ankyloglossia	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0030809	HP:0000158	Macroglossia	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0030809	HP:0010297	Bifid tongue	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent	3
HP:0030809	HP:0000158	Macroglossia	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040282 - Frequent	74
HP:0030809	HP:0000158	Macroglossia	1	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects	.	74
HP:0030809	HP:0000221	Furrowed tongue	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0030809	HP:0000180	Lobulated tongue	1	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20		132
HP:0030809	HP:0000158	Macroglossia	1	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0030809	HP:0000158	Macroglossia	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent	1
HP:0030809	HP:0000158	Macroglossia	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0030809	HP:0010808	Protruding tongue	1	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.	39
HP:0030809	HP:0010296	Ankyloglossia	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040284 - Very rare	57
HP:0030809	HP:0000221	Furrowed tongue	1	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	127
HP:0030809	HP:0010295	Aplasia/Hypoplasia of the tongue	1	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	127
HP:0030809	HP:0000180	Lobulated tongue	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0030809	HP:0000158	Macroglossia	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0030809	HP:0000206	Glossitis	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040282 - Frequent	101
HP:0030809	HP:0010296	Ankyloglossia	1	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	6
HP:0030809	HP:0012473	Tongue atrophy	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional	8
HP:0030809	HP:0010295	Aplasia/Hypoplasia of the tongue	1	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040281 - Very frequent	5
HP:0030809	HP:0000162	Glossoptosis	1	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.	5
HP:0030809	HP:0010295	Aplasia/Hypoplasia of the tongue	1	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome		5
HP:0030809	HP:0000162	Glossoptosis	1	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040282 - Frequent	5
HP:0030809	HP:0000162	Glossoptosis	1	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040282 - Frequent
HP:0030809	HP:0010295	Aplasia/Hypoplasia of the tongue	1	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040281 - Very frequent
HP:0030809	HP:0000158	Macroglossia	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	13
HP:0030809	HP:0012473	Tongue atrophy	1	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040283 - Occasional	118