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:0000327	HP:0000327	Hypoplasia of the maxilla	0	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1	.	63
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.	54
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent	5
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.	9
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent	9
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate	HP:0040284 - Very rare	6
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040281 - Very frequent
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.	7
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome	HP:0040282 - Frequent	13
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate	HP:0040284 - Very rare	38
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	9
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	31
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.	31
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate	HP:0040284 - Very rare	1003
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent	2
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.	2
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	50
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4	.	50
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040283 - Occasional	16
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040282 - Frequent	215
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1	HP:0040281 - Very frequent	284
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	160
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	27
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	65
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate	HP:0040284 - Very rare
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate	HP:0040284 - Very rare	1
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia	.	3
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040281 - Very frequent	48
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040282 - Frequent	12
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	114
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent	1361
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant	.	1361
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome	.	62
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040283 - Occasional	62
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome	.	172
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040281 - Very frequent	175
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040282 - Frequent	175
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome	.	175
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	FGFR2 CL E G H	2263	3689	ORPHA:1540	Jackson-Weiss syndrome	HP:0040282 - Frequent	175
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome	.	175
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional	175
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome	HP:0040282 - Frequent	145
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional	145
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III	.	233
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	FOXC1 CL E G H	2296	3800	ORPHA:782	Axenfeld-Rieger syndrome	HP:0040283 - Occasional	63
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.	68
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	3
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.	52
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome	HP:0040282 - Frequent
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum	HP:0040283 - Occasional	12
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.	28
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies	.	8
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate	HP:0040284 - Very rare	99
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	193
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	128
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation	HP:0040281 - Very frequent	81
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome	.
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature	HP:0040283 - Occasional	12
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome	.	63
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.	228
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome	HP:0040282 - Frequent	228
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.	64
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate	HP:0040284 - Very rare	12
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate	HP:0040284 - Very rare	4
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	27
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	17
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	12
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	53
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	21
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	39
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	26
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	PAX3 CL E G H	5077	8617	OMIM:122880	Craniofacial-Deafness-Hand syndrome	.	59
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome	HP:0040281 - Very frequent	59
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis	HP:0040281 - Very frequent	113
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040282 - Frequent	113
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate	HP:0040284 - Very rare	337
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type	.	28
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5	.	162
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	PITX2 CL E G H	5308	9005	ORPHA:782	Axenfeld-Rieger syndrome	HP:0040283 - Occasional	51
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1	.	51
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type	.	8
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent	38
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent	31
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type	HP:0040282 - Frequent	28
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type	HP:0040282 - Frequent	28
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	PRKACA CL E G H	5566	9380	OMIM:619142	CARDIOACROFACIAL DYSPLASIA 1; CAFD1		2
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis	HP:0040281 - Very frequent	134
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance		134
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.	948
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040282 - Frequent	11
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1	.	135
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1	HP:0040283 - Occasional	69
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040282 - Frequent	65
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	77
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly	.	90
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.	11
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia	HP:0040281 - Very frequent	2
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.	2
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040281 - Very frequent	49
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent	150
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.	163
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040282 - Frequent
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040281 - Very frequent	504
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.	504
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040281 - Very frequent	15
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome		37
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.	24
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome	HP:0040282 - Frequent
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent	140
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	48
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	238
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	60
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.	140
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate	HP:0040284 - Very rare	140
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.	140
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68		1
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional	18
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040282 - Frequent	7
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	1
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum	HP:0040283 - Occasional
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome		278
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome	HP:0040282 - Frequent	33
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	UPF3B CL E G H	65109	20439	OMIM:300676	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14		33
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	8
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040281 - Very frequent	546
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.	546
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	40
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.	17
HP:0000327	HP:0000327	Hypoplasia of the maxilla	0	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome	HP:0040282 - Frequent	10
HP:0000327	HP:0410218	Hypoplasia of maxilla relative to mandible	1	CL E G H
HP:0000327	HP:0010666	Hypoplasia of the anterior nasal spine	1	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040282 - Frequent
HP:0000327	HP:0005439	Maxillozygomatic hypoplasia	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2