Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- Quick-Mitome
- Quick-Mitome-Report
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome
- Disease Portal
- HPO Ontology Browser
- Core Symptoms (draft)
- NAMDC-HPO Mapping (retired)
- Expert Panel
- Clinical
- Overview
- Leigh Syndrome Resource
Collaboration
Submission

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal oral cavity morphology (HP:0000163)

Parent Node:
Abnormal palate morphology (HP:0000174)

..Starting node
..High palate (HP:0000218)

Term ID:

218

Name:

High palate

Synonym:

Elevated palate; High arched palate; High palate; High, arched palate; High-arched palate; Increased palatal height; Ogival palate; Palate high-arched; Palate, high-arched

Definition:

Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).

Comments:

Reference:

HP:0000218

Genes and Diseases:

Child Nodes:

........

High, narrow palate (HP:0002705)

Sister Nodes:

Abnormal hard palate morphology (HP:0100737)

Abnormal soft palate morphology (HP:0100736)

Narrow palate (HP:0000189)

Palatal edema (HP:0031089)

Palate fistula (HP:0010294)

Palate telangiectasia (HP:0002707)

Prominent median palatal raphe (HP:0002708)

Prominent palatine ridges (HP:0010291)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0000218	HP:0000218	High palate	0	A2ML1 CL E G H	144568	648				ORPHA	1	1146	23336	610627
HP:0000218	HP:0000218	High palate	0	ABCC6 CL E G H	368	177850	Pseudoxanthoma elasticum, forme fruste	177850	C1867450	OMIM	1	1307	57	603234
HP:0000218	HP:0000218	High palate	0	ACTA1 CL E G H	58	171436				ORPHA	1	392	129	102610
HP:0000218	HP:0000218	High palate	0	ACTA1 CL E G H	58	2020				ORPHA	1	392	129	102610
HP:0000218	HP:0000218	High palate	0	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	392	129	102610
HP:0000218	HP:0000218	High palate	0	ACTA1 CL E G H	58	161800	Nemaline myopathy 3	161800	C3711389	OMIM	1	392	129	102610
HP:0000218	HP:0000218	High palate	0	ADAM22 CL E G H	53616	617933	Early infantile epileptic encephalopathy 61	617933	CN244550	OMIM	1	52	201	603709
HP:0000218	HP:0000218	High palate	0	AGRN CL E G H	375790	98913				ORPHA	1	1782	329	103320
HP:0000218	HP:0000218	High palate	0	AK9 CL E G H	221264	98913				ORPHA	1	48	33814	615358
HP:0000218	HP:0000218	High palate	0	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	634	391	164730
HP:0000218	HP:0000218	High palate	0	ALDH6A1 CL E G H	4329	614105	Methylmalonate semialdehyde dehydrogenase deficiency	614105	C3279840	OMIM	1	157	7179	603178
HP:0000218	HP:0000218	High palate	0	ALG14 CL E G H	199857	353327				ORPHA	1	104	28287	612866
HP:0000218	HP:0000218	High palate	0	ALG2 CL E G H	85365	353327				ORPHA	1	262	23159	607905
HP:0000218	HP:0000218	High palate	0	ALG3 CL E G H	10195	601110	Congenital disorder of glycosylation type 1D	601110	C1832736	OMIM	1	179	23056	608750
HP:0000218	HP:0000218	High palate	0	ANK1 CL E G H	286	251066				ORPHA	1	642	492	612641
HP:0000218	HP:0000218	High palate	0	ANKRD11 CL E G H	29123	261250	16q24.3 microdeletion syndrome		CN202174	ORPHA	1	1515	21316	611192
HP:0000218	HP:0000218	High palate	0	ANOS1 CL E G H	3730	308700	Kallmann syndrome 1	308700	C1563719	OMIM	1	426	6211	300836
HP:0000218	HP:0000218	High palate	0	AP1S2 CL E G H	8905	85335				ORPHA	1	218	560	300629
HP:0000218	HP:0000218	High palate	0	AP4M1 CL E G H	9179	612936	Spastic paraplegia 50, autosomal recessive	612936	C2752008	OMIM	1	311	574	602296
HP:0000218	HP:0000218	High palate	0	AP4S1 CL E G H	11154	614067	Spastic paraplegia 52, autosomal recessive	614067	C3279743	OMIM	1	122	575	607243
HP:0000218	HP:0000218	High palate	0	APC CL E G H	324	261584				ORPHA	1	11490	583	611731
HP:0000218	HP:0000218	High palate	0	APC2 CL E G H	10297	821				ORPHA	1	235	24036	612034
HP:0000218	HP:0000218	High palate	0	ARCN1 CL E G H	372	617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	617164	C4310686	OMIM	1	123	649	600820
HP:0000218	HP:0000218	High palate	0	ARHGEF2 CL E G H	9181	617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	617523	C4479613	OMIM	1	44	682	607560
HP:0000218	HP:0000218	High palate	0	ARID1B CL E G H	57492	251056				ORPHA	1	1206	18040	614556
HP:0000218	HP:0000218	High palate	0	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	1206	18040	614556
HP:0000218	HP:0000218	High palate	0	ARX CL E G H	170302	300215	Lissencephaly 2, X-linked	300215	C1846171	OMIM	1	679	18060	300382
HP:0000218	HP:0000218	High palate	0	ARX CL E G H	170302	300004	Proud Levine Carpenter syndrome	300004	C0796124	OMIM	1	679	18060	300382
HP:0000218	HP:0000218	High palate	0	ASXL3 CL E G H	80816	615485	Bainbridge-Ropers syndrome	615485	C3809650	OMIM	1	491	29357	615115
HP:0000218	HP:0000218	High palate	0	ATP6V0A2 CL E G H	23545	357074				ORPHA	1	484	18481	611716
HP:0000218	HP:0000218	High palate	0	ATP6V0A2 CL E G H	23545	2834				ORPHA	1	484	18481	611716
HP:0000218	HP:0000218	High palate	0	ATP6V0A2 CL E G H	23545	219200	Cutis laxa with osteodystrophy	219200	C0268355	OMIM	1	484	18481	611716
HP:0000218	HP:0000218	High palate	0	ATP6V0A2 CL E G H	23545	278250	Wrinkly skin syndrome	278250	C0406587	OMIM	1	484	18481	611716
HP:0000218	HP:0000218	High palate	0	ATP6V1A CL E G H	523	357074				ORPHA	1	123	851	607027
HP:0000218	HP:0000218	High palate	0	ATP6V1E1 CL E G H	529	357074				ORPHA	1	172	857	108746
HP:0000218	HP:0000218	High palate	0	ATP6V1E1 CL E G H	529	617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC	617402	C4479387	OMIM	1	172	857	108746
HP:0000218	HP:0000218	High palate	0	ATP7A CL E G H	538	304150	Cutis laxa, X-linked	304150	C0268353	OMIM	1	1283	869	300011
HP:0000218	HP:0000218	High palate	0	ATR CL E G H	545	210600	Seckel syndrome 1	210600	CN033164	OMIM	1	2273	882	601215
HP:0000218	HP:0000218	High palate	0	ATRX CL E G H	546	309580	Mental retardation-hypotonic facies syndrome X-linked, 1	309580	C0796003	OMIM	1	1544	886	300032
HP:0000218	HP:0000218	High palate	0	B3GALT6 CL E G H	126792	93359				ORPHA	1	366	17978	615291
HP:0000218	HP:0000218	High palate	0	BBS1 CL E G H	582	209900	Bardet-Biedl syndrome 1	209900	C2936862	OMIM	1	694	966	209901
HP:0000218	HP:0000218	High palate	0	BIN1 CL E G H	274	169186				ORPHA	1	552	1052	601248
HP:0000218	HP:0000218	High palate	0	BMP2 CL E G H	650	617877	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES	617877	CN807949	OMIM	1	128	1069	112261
HP:0000218	HP:0000218	High palate	0	BRAF CL E G H	673	648				ORPHA	1	948	1097	164757
HP:0000218	HP:0000218	High palate	0	BRAF CL E G H	673	115150	Cardiofaciocutaneous syndrome 1	115150	CN029449	OMIM	1	948	1097	164757
HP:0000218	HP:0000218	High palate	0	BRAF CL E G H	673	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	948	1097	164757
HP:0000218	HP:0000218	High palate	0	BRAF CL E G H	673	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	948	1097	164757
HP:0000218	HP:0000218	High palate	0	BRAT1 CL E G H	221927	618056	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES	618056	CN252657	OMIM	1	960	21701	614506
HP:0000218	HP:0000218	High palate	0	CASK CL E G H	8573	300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	300749	C2677903	OMIM	1	706	1497	300172
HP:0000218	HP:0000218	High palate	0	CBS CL E G H	875	236200	Homocystinuria due to CBS deficiency	236200	C3150344	OMIM	1	967	1550	613381
HP:0000218	HP:0000218	High palate	0	CCDC47 CL E G H	57003	618268	618268	618268		OMIM	1	27	24856	0
HP:0000218	HP:0000218	High palate	0	CD96 CL E G H	10225	211750	C syndrome	211750	C0796095	OMIM	1	72	16892	606037
HP:0000218	HP:0000218	High palate	0	CD96 CL E G H	10225	1308	Chorioretinopathy dominant form microcephaly			ORPHA	1	72	16892	606037
HP:0000218	HP:0000218	High palate	0	CDC45 CL E G H	8318	617063	Meier-gorlin syndrome 7	617063	C4310738	OMIM	1	567	1739	603465
HP:0000218	HP:0000218	High palate	0	CDH11 CL E G H	1009	211380	Brachioskeletogenital syndrome	211380	C0809936	OMIM	1	59	1750	600023
HP:0000218	HP:0000218	High palate	0	CEP152 CL E G H	22995	613823	Seckel syndrome 5	613823	C3151187	OMIM	1	450	29298	613529
HP:0000218	HP:0000218	High palate	0	CFL2 CL E G H	1073	171436				ORPHA	1	147	1875	601443
HP:0000218	HP:0000218	High palate	0	CFL2 CL E G H	1073	610687	Nemaline myopathy 7	610687	C1853154	OMIM	1	147	1875	601443
HP:0000218	HP:0000218	High palate	0	CHAMP1 CL E G H	283489	616579	Mental retardation, autosomal dominant 40	616579	C4225275	OMIM	1	216	20311	616327
HP:0000218	HP:0000218	High palate	0	CHRNA1 CL E G H	1134	98913				ORPHA	1	398	1955	100690
HP:0000218	HP:0000218	High palate	0	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	398	1955	100690
HP:0000218	HP:0000218	High palate	0	CHRNB1 CL E G H	1140	98913				ORPHA	1	357	1961	100710
HP:0000218	HP:0000218	High palate	0	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	357	1961	100710
HP:0000218	HP:0000218	High palate	0	CHRND CL E G H	1144	98913				ORPHA	1	408	1965	100720
HP:0000218	HP:0000218	High palate	0	CHRND CL E G H	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	616322	C4225371	OMIM	1	408	1965	100720
HP:0000218	HP:0000218	High palate	0	CHRND CL E G H	1144	616323	Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency	616323	C4225370	OMIM	1	408	1965	100720
HP:0000218	HP:0000218	High palate	0	CHRNE CL E G H	1145	98913				ORPHA	1	795	1966	100725
HP:0000218	HP:0000218	High palate	0	CHRNE CL E G H	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	795	1966	100725
HP:0000218	HP:0000218	High palate	0	CHRNG CL E G H	1146	2990				ORPHA	1	220	1967	100730
HP:0000218	HP:0000218	High palate	0	CHRNG CL E G H	1146	265000	Multiple pterygium syndrome Escobar type	265000	C0265261	OMIM	1	220	1967	100730
HP:0000218	HP:0000218	High palate	0	CHST14 CL E G H	113189	601776	Ehlers-Danlos syndrome, musculocontractural type	601776	C1866294	OMIM	1	211	24464	608429
HP:0000218	HP:0000218	High palate	0	CHST3 CL E G H	9469	143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	143095	C1840471	OMIM	1	352	1971	603799
HP:0000218	HP:0000218	High palate	0	CLCF1 CL E G H	23529	610313	Cold-induced sweating syndrome 2	610313	C1853198	OMIM	1	33	17412	607672
HP:0000218	HP:0000218	High palate	0	CLCF1 CL E G H	23529	1545	Corsello Opitz syndrome			ORPHA	1	33	17412	607672
HP:0000218	HP:0000218	High palate	0	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	61	16999	608757
HP:0000218	HP:0000218	High palate	0	CLTC CL E G H	1213	617854	MENTAL RETARDATION, AUTOSOMAL DOMINANT 56	617854	CN787270	OMIM	1	390	2092	118955
HP:0000218	HP:0000218	High palate	0	CNTN1 CL E G H	1272	612540	Myopathy, congenital, compton-north	612540	C2675527	OMIM	1	476	2171	600016
HP:0000218	HP:0000218	High palate	0	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	267	8011	602346
HP:0000218	HP:0000218	High palate	0	COG1 CL E G H	9382	611209	COG1 congenital disorder of glycosylation	611209	C1970016	OMIM	1	279	6545	606973
HP:0000218	HP:0000218	High palate	0	COL12A1 CL E G H	1303	616470	Ullrich congenital muscular dystrophy 2	616470	C4225314	OMIM	1	1944	2188	120320
HP:0000218	HP:0000218	High palate	0	COL13A1 CL E G H	1305	98913				ORPHA	1	397	2190	120350
HP:0000218	HP:0000218	High palate	0	COL13A1 CL E G H	1305	616720	Myasthenic syndrome, congenital, 19	616720	C4225235	OMIM	1	397	2190	120350
HP:0000218	HP:0000218	High palate	0	COL6A1 CL E G H	1291	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1470	2211	120220
HP:0000218	HP:0000218	High palate	0	COL6A2 CL E G H	1292	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1644	2212	120240
HP:0000218	HP:0000218	High palate	0	COL6A3 CL E G H	1293	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	2414	2213	120250
HP:0000218	HP:0000218	High palate	0	CPLANE1 CL E G H	65250	2754				ORPHA	1	1426	25801	614571
HP:0000218	HP:0000218	High palate	0	CPLANE1 CL E G H	65250	277170	Orofaciodigital syndrome 6	277170	C2745997	OMIM	1	1426	25801	614571
HP:0000218	HP:0000218	High palate	0	CPT2 CL E G H	1376	608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	608836	C1833518	OMIM	1	720	2330	600650
HP:0000218	HP:0000218	High palate	0	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1255	2348	600140
HP:0000218	HP:0000218	High palate	0	CRLF1 CL E G H	9244	272430	Cold-induced sweating syndrome 1	272430	C1848947	OMIM	1	80	2364	604237
HP:0000218	HP:0000218	High palate	0	CRLF1 CL E G H	9244	1545	Corsello Opitz syndrome			ORPHA	1	80	2364	604237
HP:0000218	HP:0000218	High palate	0	CSNK2A1 CL E G H	1457	617062	Okur-chung neurodevelopmental syndrome	617062	C4310739	OMIM	1	196	2457	115440
HP:0000218	HP:0000218	High palate	0	CTNND2 CL E G H	1501	281	Ramer Ladda syndrome			ORPHA	1	313	2516	604275
HP:0000218	HP:0000218	High palate	0	CUL4B CL E G H	8450	85293				ORPHA	1	347	2555	300304
HP:0000218	HP:0000218	High palate	0	DBH CL E G H	1621	223360	Dopamine beta hydroxylase deficiency	223360	C0342687	OMIM	1	346	2689	609312
HP:0000218	HP:0000218	High palate	0	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	636	13681	603057
HP:0000218	HP:0000218	High palate	0	DDR2 CL E G H	4921	271665	Spondylometaepiphyseal dysplasia short limb-hand type	271665	C1849011	OMIM	1	266	2731	191311
HP:0000218	HP:0000218	High palate	0	DDX11 CL E G H	1663	613398	Warsaw breakage syndrome	613398	C3150658	OMIM	1	138	2736	601150
HP:0000218	HP:0000218	High palate	0	DHX30 CL E G H	22907	617804	NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE	617804	C4540496	OMIM	1	74	16716	616423
HP:0000218	HP:0000218	High palate	0	DOK7 CL E G H	285489	98913				ORPHA	1	840	26594	610285
HP:0000218	HP:0000218	High palate	0	DOK7 CL E G H	285489	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	840	26594	610285
HP:0000218	HP:0000218	High palate	0	DPAGT1 CL E G H	1798	353327				ORPHA	1	258	2995	191350
HP:0000218	HP:0000218	High palate	0	DPM2 CL E G H	8818	615042	Congenital disorder of glycosylation type 1u	615042	C3554385	OMIM	1	138	3006	603564
HP:0000218	HP:0000218	High palate	0	DSE CL E G H	29940	615539	Ehlers-Danlos syndrome, musculocontractural type 2	615539	C3809845	OMIM	1	255	21144	605942
HP:0000218	HP:0000218	High palate	0	EBP CL E G H	10682	300960	MEND syndrome	300960	C4085243	OMIM	1	291	3133	300205
HP:0000218	HP:0000218	High palate	0	ECM1 CL E G H	1893	530	Acute myeloblastic leukemia type 5			ORPHA	1	81	3153	602201
HP:0000218	HP:0000218	High palate	0	EFEMP2 CL E G H	30008	614437	Autosomal recessive cutis laxa type 1B	614437	C3280798	OMIM	1	358	3219	604633
HP:0000218	HP:0000218	High palate	0	EFNB1 CL E G H	1947	1520				ORPHA	1	214	3226	300035
HP:0000218	HP:0000218	High palate	0	EIF2AK3 CL E G H	9451	226980	Wolcott-Rallison dysplasia	226980	C0432217	OMIM	1	359	3255	604032
HP:0000218	HP:0000218	High palate	0	EIF4A3 CL E G H	9775	268305	Richieri Costa Pereira syndrome	268305	C1849348	OMIM	1	38	18683	608546
HP:0000218	HP:0000218	High palate	0	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	835	3373	602700
HP:0000218	HP:0000218	High palate	0	EP300 CL E G H	2033	613684	Rubinstein-Taybi syndrome 2	613684	C3150941	OMIM	1	835	3373	602700
HP:0000218	HP:0000218	High palate	0	EPG5 CL E G H	57724	1493	Congenital mesoblastic nephroma			ORPHA	1	1213	29331	615068
HP:0000218	HP:0000218	High palate	0	ERLIN2 CL E G H	11160	611225	Spastic paraplegia 18	611225	C2749936	OMIM	1	159	1356	611605
HP:0000218	HP:0000218	High palate	0	ESCO2 CL E G H	157570	268300	Roberts-SC phocomelia syndrome	268300	C0392475	OMIM	1	435	27230	609353
HP:0000218	HP:0000218	High palate	0	EYA1 CL E G H	2138	2792	Hyperbilirubinemia type 1			ORPHA	1	434	3519	601653
HP:0000218	HP:0000218	High palate	0	EYA1 CL E G H	2138	113650	Melnick-Fraser syndrome	113650	C0265234	OMIM	1	434	3519	601653
HP:0000218	HP:0000218	High palate	0	FAM20C CL E G H	56975	259775	Raine syndrome	259775	C1850106	OMIM	1	350	22140	611061
HP:0000218	HP:0000218	High palate	0	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	1312	23109	612411
HP:0000218	HP:0000218	High palate	0	FBN1 CL E G H	2200	154700	Marfan syndrome	154700	C0024796	OMIM	1	5970	3603	134797
HP:0000218	HP:0000218	High palate	0	FBN2 CL E G H	2201	115				ORPHA	1	2309	3604	612570
HP:0000218	HP:0000218	High palate	0	FBN2 CL E G H	2201	121050	Congenital contractural arachnodactyly	121050	C0220668	OMIM	1	2309	3604	612570
HP:0000218	HP:0000218	High palate	0	FGF8 CL E G H	2253	612702	Kallmann syndrome 6	612702	C2675188	OMIM	1	77	3686	600483
HP:0000218	HP:0000218	High palate	0	FGFR1 CL E G H	2260	93258				ORPHA	1	688	3688	136350
HP:0000218	HP:0000218	High palate	0	FGFR1 CL E G H	2260	166250	Osteoglophonic dysplasia	166250	C0432283	OMIM	1	688	3688	136350
HP:0000218	HP:0000218	High palate	0	FGFR1 CL E G H	2260	101600	Pfeiffer syndrome	101600	C1863356	OMIM	1	688	3688	136350
HP:0000218	HP:0000218	High palate	0	FGFR2 CL E G H	2263	93260				ORPHA	1	567	3689	176943
HP:0000218	HP:0000218	High palate	0	FGFR2 CL E G H	2263	168624				ORPHA	1	567	3689	176943
HP:0000218	HP:0000218	High palate	0	FGFR2 CL E G H	2263	93259				ORPHA	1	567	3689	176943
HP:0000218	HP:0000218	High palate	0	FGFR2 CL E G H	2263	93258				ORPHA	1	567	3689	176943
HP:0000218	HP:0000218	High palate	0	FGFR2 CL E G H	2263	101600	Pfeiffer syndrome	101600	C1863356	OMIM	1	567	3689	176943
HP:0000218	HP:0000218	High palate	0	FGFR3 CL E G H	2261	602849	Muenke syndrome	602849	C1864436	OMIM	1	746	3690	134934
HP:0000218	HP:0000218	High palate	0	FH CL E G H	2271	606812	Fumarase deficiency	606812	C0342770	OMIM	1	1594	3700	136850
HP:0000218	HP:0000218	High palate	0	FLCN CL E G H	201163	610883	Chromosome 17, trisomy 17p11 2	610883	C2931246	OMIM	1	1833	27310	607273
HP:0000218	HP:0000218	High palate	0	FLNA CL E G H	2316	1826	Dexamethasone sensitive hypertension			ORPHA	1	2538	3754	300017
HP:0000218	HP:0000218	High palate	0	FLNA CL E G H	2316	305620	Frontometaphyseal dysplasia	305620	C0265293	OMIM	1	2538	3754	300017
HP:0000218	HP:0000218	High palate	0	FOXL2 CL E G H	668	110100	Blepharophimosis, ptosis, and epicanthus inversus	110100	C0220663	OMIM	1	186	1092	605597
HP:0000218	HP:0000218	High palate	0	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	218	24861	611045
HP:0000218	HP:0000218	High palate	0	GATA4 CL E G H	2626	251071				ORPHA	1	630	4173	600576
HP:0000218	HP:0000218	High palate	0	GBA CL E G H	2629	85212				ORPHA	1		4177	606463
HP:0000218	HP:0000218	High palate	0	GFPT1 CL E G H	2673	353327				ORPHA	1	453	4241	138292
HP:0000218	HP:0000218	High palate	0	GFPT1 CL E G H	2673	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	453	4241	138292
HP:0000218	HP:0000218	High palate	0	GMPPB CL E G H	29925	353327				ORPHA	1	273	22932	615320
HP:0000218	HP:0000218	High palate	0	GNE CL E G H	10020	269921	Sialuria	269921	C0342853	OMIM	1	783	23657	603824
HP:0000218	HP:0000218	High palate	0	GNPAT CL E G H	8443	222765	Rhizomelic chondrodysplasia punctata type 2	222765	C1857242	OMIM	1	261	4416	602744
HP:0000218	HP:0000218	High palate	0	GSC CL E G H	145258	602471	Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities	602471	C1865361	OMIM	1	64	4612	138890
HP:0000218	HP:0000218	High palate	0	HACD1 CL E G H	9200	2020				ORPHA	1	109	9639	610467
HP:0000218	HP:0000218	High palate	0	HBA1 CL E G H	3039	98791				ORPHA	1	379	4823	141800
HP:0000218	HP:0000218	High palate	0	HBA2 CL E G H	3040	98791				ORPHA	1	333	4824	141850
HP:0000218	HP:0000218	High palate	0	HDAC8 CL E G H	55869	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	322	13315	300269
HP:0000218	HP:0000218	High palate	0	HERC1 CL E G H	8925	617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	617011	C4310766	OMIM	1	618	4867	605109
HP:0000218	HP:0000218	High palate	0	HNRNPH2 CL E G H	3188	300986	Mental retardation, X-linked, syndromic, Bain type	300986	C4310814	OMIM	1	186	5042	300610
HP:0000218	HP:0000218	High palate	0	HNRNPK CL E G H	3190	616580	AU-KLINE SYNDROME	616580	C4225274	OMIM	1	129	5044	600712
HP:0000218	HP:0000218	High palate	0	HPGD CL E G H	3248	259100	Pachydermoperiostosis syndrome	259100	C0029411	OMIM	1	196	5154	601688
HP:0000218	HP:0000218	High palate	0	HRAS CL E G H	3265	218040	Costello syndrome	218040	C0587248	OMIM	1	547	5173	190020
HP:0000218	HP:0000218	High palate	0	HSD17B4 CL E G H	3295	261515	Bifunctional peroxisomal enzyme deficiency	261515	C0342870	OMIM	1	786	5213	601860
HP:0000218	HP:0000218	High palate	0	HSD17B4 CL E G H	3295	233400	Perrault syndrome 1	233400		OMIM	1	786	5213	601860
HP:0000218	HP:0000218	High palate	0	HSPA9 CL E G H	3313	616854	Even-plus syndrome	616854	C4225180	OMIM	1	50	5244	600548
HP:0000218	HP:0000218	High palate	0	HSPG2 CL E G H	3339	800				ORPHA	1	1830	5273	142461
HP:0000218	HP:0000218	High palate	0	HYMAI CL E G H	57061	96191				ORPHA	1	17	5326	606546
HP:0000218	HP:0000218	High palate	0	HYOU1 CL E G H	10525	233600	Granulocytopenia with immunoglobulin abnormality	233600	C1856263	OMIM	1	298	16931	601746
HP:0000218	HP:0000218	High palate	0	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	178	27302	615316
HP:0000218	HP:0000218	High palate	0	IER3IP1 CL E G H	51124	614231	Microcephaly, epilepsy, and diabetes syndrome	614231	C3280240	OMIM	1	127	18550	609382
HP:0000218	HP:0000218	High palate	0	IFT122 CL E G H	55764	218330	Cranioectodermal dysplasia 1	218330	C0432235	OMIM	1	462	13556	606045
HP:0000218	HP:0000218	High palate	0	IFT140 CL E G H	9742	266920	Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia	266920	C1849437	OMIM	1	1284	29077	614620
HP:0000218	HP:0000218	High palate	0	IGBP1 CL E G H	3476	52055				ORPHA	1	151	5461	300139
HP:0000218	HP:0000218	High palate	0	IGBP1 CL E G H	3476	300472	Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia	300472	C1845446	OMIM	1	151	5461	300139
HP:0000218	HP:0000218	High palate	0	IGF1R CL E G H	3480	270450	Insulin-like growth factor 1 resistance to	270450	C1849157	OMIM	1	713	5465	147370
HP:0000218	HP:0000218	High palate	0	INSR CL E G H	3643	262190	Pineal hyperplasia AND diabetes mellitus syndrome	262190	C0271695	OMIM	1	553	6091	147670
HP:0000218	HP:0000218	High palate	0	IRX5 CL E G H	10265	611174	Hamamy syndrome	611174	C1970027	OMIM	1	53	14361	606195
HP:0000218	HP:0000218	High palate	0	ITGA7 CL E G H	3679	2020				ORPHA	1	718	6143	600536
HP:0000218	HP:0000218	High palate	0	KANSL1 CL E G H	284058	610443	Koolen-de Vries syndrome	610443	C1864871	OMIM	1	1218	24565	612452
HP:0000218	HP:0000218	High palate	0	KAT6B CL E G H	23522	648				ORPHA	1	605	17582	605880
HP:0000218	HP:0000218	High palate	0	KCNH1 CL E G H	3756	135500	Zimmermann-Laband syndrome 1	135500	CN032818	OMIM	1	413	6250	603305
HP:0000218	HP:0000218	High palate	0	KCNJ2 CL E G H	3759	170390	Andersen Tawil syndrome	170390	C1563715	OMIM	1	500	6263	600681
HP:0000218	HP:0000218	High palate	0	KCNJ6 CL E G H	3763	435628				ORPHA	1	122	6267	600877
HP:0000218	HP:0000218	High palate	0	KCNK9 CL E G H	51305	612292	Birk Barel mental retardation dysmorphism syndrome	612292	C2676770	OMIM	1	90	6283	605874
HP:0000218	HP:0000218	High palate	0	KDM6A CL E G H	7403	2322				ORPHA	1	678	12637	300128
HP:0000218	HP:0000218	High palate	0	KDM6A CL E G H	7403	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	678	12637	300128
HP:0000218	HP:0000218	High palate	0	KIAA0753 CL E G H	9851	2754				ORPHA	1	217	29110	617112
HP:0000218	HP:0000218	High palate	0	KIF7 CL E G H	374654	2754				ORPHA	1	977	30497	611254
HP:0000218	HP:0000218	High palate	0	KLHL41 CL E G H	10324	171436				ORPHA	1	220	16905	607701
HP:0000218	HP:0000218	High palate	0	KLHL7 CL E G H	55975	617055	Cold-induced sweating syndrome 3	617055	C4310742	OMIM	1	258	15646	611119
HP:0000218	HP:0000218	High palate	0	KMT2A CL E G H	4297	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	1317	7132	159555
HP:0000218	HP:0000218	High palate	0	KMT2A CL E G H	4297	605130	Wiedemann-Steiner syndrome	605130	C1854630	OMIM	1	1317	7132	159555
HP:0000218	HP:0000218	High palate	0	KMT2D CL E G H	8085	2322				ORPHA	1	2939	7133	602113
HP:0000218	HP:0000218	High palate	0	KMT2D CL E G H	8085	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	2939	7133	602113
HP:0000218	HP:0000218	High palate	0	KRAS CL E G H	3845	648				ORPHA	1	440	6407	190070
HP:0000218	HP:0000218	High palate	0	KRAS CL E G H	3845	615278	Cardiofaciocutaneous syndrome 2	615278	C3809005	OMIM	1	440	6407	190070
HP:0000218	HP:0000218	High palate	0	KRAS CL E G H	3845	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	440	6407	190070
HP:0000218	HP:0000218	High palate	0	LGI4 CL E G H	163175	617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	617468	C4479539	OMIM	1	79	18712	608303
HP:0000218	HP:0000218	High palate	0	LMBRD1 CL E G H	55788	277380	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE	277380	C1848578	OMIM	1	216	23038	612625
HP:0000218	HP:0000218	High palate	0	LMNA CL E G H	4000	248370	Mandibuloacral dysostosis	248370	C0432291	OMIM	1	1622	6636	150330
HP:0000218	HP:0000218	High palate	0	LMOD3 CL E G H	56203	171436				ORPHA	1	326	6649	616112
HP:0000218	HP:0000218	High palate	0	LRP4 CL E G H	4038	98913				ORPHA	1	790	6696	604270
HP:0000218	HP:0000218	High palate	0	LRRC8A CL E G H	56262	613506	Agammaglobulinemia 5, autosomal dominant	613506	C3150753	OMIM	1	227	19027	608360
HP:0000218	HP:0000218	High palate	0	LZTR1 CL E G H	8216	648				ORPHA	1	2408	6742	600574
HP:0000218	HP:0000218	High palate	0	MAP2K1 CL E G H	5604	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	398	6840	176872
HP:0000218	HP:0000218	High palate	0	MAP2K1 CL E G H	5604	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	398	6840	176872
HP:0000218	HP:0000218	High palate	0	MAP2K2 CL E G H	5605	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	599	6842	601263
HP:0000218	HP:0000218	High palate	0	MAP3K20 CL E G H	51776	2020				ORPHA	1	243	17797	609479
HP:0000218	HP:0000218	High palate	0	MAP3K7 CL E G H	6885	1826	Dexamethasone sensitive hypertension			ORPHA	1	161	6859	602614
HP:0000218	HP:0000218	High palate	0	MECP2 CL E G H	4204	300055	Mental retardation, X-linked, syndromic 13	300055	C1968550	OMIM	1	1778	6990	300005
HP:0000218	HP:0000218	High palate	0	MED12 CL E G H	9968	776				ORPHA	1	1236	11957	300188
HP:0000218	HP:0000218	High palate	0	MED12 CL E G H	9968	309520	X-linked mental retardation with marfanoid habitus syndrome	309520	C0796022	OMIM	1	1236	11957	300188
HP:0000218	HP:0000218	High palate	0	MEGF10 CL E G H	84466	614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	614399	C3280679	OMIM	1	794	29634	612453
HP:0000218	HP:0000218	High palate	0	MEGF8 CL E G H	1954	614976	Carpenter syndrome 2	614976	C3554247	OMIM	1	486	3233	604267
HP:0000218	HP:0000218	High palate	0	MID1 CL E G H	4281	300000	Opitz-Frias syndrome	300000	C0175696	OMIM	1	355	7095	300552
HP:0000218	HP:0000218	High palate	0	MOGS CL E G H	7841	606056	Congenital disorder of glycosylation type 2B	606056	C1853736	OMIM	1	346	24862	601336
HP:0000218	HP:0000218	High palate	0	MSTO1 CL E G H	55154	502423				ORPHA	1	85	29678	617619
HP:0000218	HP:0000218	High palate	0	MTM1 CL E G H	4534	310400	Severe X-linked myotubular myopathy	310400	C0410203	OMIM	1	720	7448	300415
HP:0000218	HP:0000218	High palate	0	MUSK CL E G H	4593	98913				ORPHA	1	496	7525	601296
HP:0000218	HP:0000218	High palate	0	MUSK CL E G H	4593	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	496	7525	601296
HP:0000218	HP:0000218	High palate	0	MYCN CL E G H	4613	164280	Feingold syndrome 1	164280	C0796068	OMIM	1	146	7559	164840
HP:0000218	HP:0000218	High palate	0	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	1	914	7572	160740
HP:0000218	HP:0000218	High palate	0	MYH3 CL E G H	4621	1147				ORPHA	1	641	7573	160720
HP:0000218	HP:0000218	High palate	0	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000218	HP:0000218	High palate	0	MYH3 CL E G H	4621	193700	Freeman-Sheldon syndrome	193700	C0265224	OMIM	1	641	7573	160720
HP:0000218	HP:0000218	High palate	0	MYH7 CL E G H	4625	324604				ORPHA	1	3612	7577	160760
HP:0000218	HP:0000218	High palate	0	MYH7 CL E G H	4625	59135				ORPHA	1	3612	7577	160760
HP:0000218	HP:0000218	High palate	0	MYH7 CL E G H	4625	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	3612	7577	160760
HP:0000218	HP:0000218	High palate	0	MYH7 CL E G H	4625	160500	Myopathy, distal, 1	160500	CN074249	OMIM	1	3612	7577	160760
HP:0000218	HP:0000218	High palate	0	MYL2 CL E G H	4633	2020				ORPHA	1	445	7583	160781
HP:0000218	HP:0000218	High palate	0	MYMK CL E G H	389827	1358				ORPHA	1	75	33778	615345
HP:0000218	HP:0000218	High palate	0	MYO18B CL E G H	84700	616549	Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism	616549	C4225285	OMIM	1	1162	18150	607295
HP:0000218	HP:0000218	High palate	0	MYPN CL E G H	84665	171881				ORPHA	1	1263	23246	608517
HP:0000218	HP:0000218	High palate	0	MYPN CL E G H	84665	617336	Nemaline myopathy 11, autosomal recessive	617336	C4479186	OMIM	1	1263	23246	608517
HP:0000218	HP:0000218	High palate	0	NAA10 CL E G H	8260	300855	N-terminal acetyltransferase deficiency	300855	C3275447	OMIM	1	361	18704	300013
HP:0000218	HP:0000218	High palate	0	NALCN CL E G H	259232	1147				ORPHA	1	653	19082	611549
HP:0000218	HP:0000218	High palate	0	NEB CL E G H	4703	171436				ORPHA	1	6444	7720	161650
HP:0000218	HP:0000218	High palate	0	NEB CL E G H	4703	399103				ORPHA	1	6444	7720	161650
HP:0000218	HP:0000218	High palate	0	NEB CL E G H	4703	256030	Nemaline myopathy 2	256030	C1850569	OMIM	1	6444	7720	161650
HP:0000218	HP:0000218	High palate	0	NEK1 CL E G H	4750	2751	Hunter Carpenter Macdonald syndrome			ORPHA	1	525	7744	604588
HP:0000218	HP:0000218	High palate	0	NEK9 CL E G H	91754	617022	Lethal congenital contracture syndrome 10	617022	C4310760	OMIM	1	82	18591	609798
HP:0000218	HP:0000218	High palate	0	NIPBL CL E G H	25836	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	1201	28862	608667
HP:0000218	HP:0000218	High palate	0	NIPBL CL E G H	25836	122470	Cornelia de Lange syndrome 1	122470	CN029798	OMIM	1	1201	28862	608667
HP:0000218	HP:0000218	High palate	0	NOTCH2 CL E G H	4853	102500	Hajdu-Cheney syndrome	102500	C0917715	OMIM	1	750	7882	600275
HP:0000218	HP:0000218	High palate	0	NOTCH3 CL E G H	4854	130720	Lehman syndrome	130720	C1851710	OMIM	1	1133	7883	600276
HP:0000218	HP:0000218	High palate	0	NRAS CL E G H	4893	648				ORPHA	1	250	7989	164790
HP:0000218	HP:0000218	High palate	0	NSD1 CL E G H	64324	821				ORPHA	1	1390	14234	606681
HP:0000218	HP:0000218	High palate	0	NSDHL CL E G H	50814	300831	NSDHL-Related Disorders	300831	C3151781	OMIM	1	312	13398	300275
HP:0000218	HP:0000218	High palate	0	NUP107 CL E G H	57122	616730	Nephrotic syndrome, type 11	616730	C4225228	OMIM	1	149	29914	607617
HP:0000218	HP:0000218	High palate	0	OBSL1 CL E G H	23363	612921	Three M syndrome 2	612921	C2752041	OMIM	1	709	29092	610991
HP:0000218	HP:0000218	High palate	0	OCLN CL E G H	100506658	251290	Band-like calcification with simplified gyration and polymicrogyria	251290	C3489725	OMIM	1	103	8104	602876
HP:0000218	HP:0000218	High palate	0	OFD1 CL E G H	8481	2750				ORPHA	1	789	2567	300170
HP:0000218	HP:0000218	High palate	0	OFD1 CL E G H	8481	2754				ORPHA	1	789	2567	300170
HP:0000218	HP:0000218	High palate	0	OFD1 CL E G H	8481	311200	Oral-facial-digital syndrome	311200	C1510460	OMIM	1	789	2567	300170
HP:0000218	HP:0000218	High palate	0	OFD1 CL E G H	8481	300209	Simpson-Golabi-Behmel syndrome, type 2	300209	C1846175	OMIM	1	789	2567	300170
HP:0000218	HP:0000218	High palate	0	ORC1 CL E G H	4998	224690	Meier-Gorlin syndrome 1	224690	CN030358	OMIM	1	214	8487	601902
HP:0000218	HP:0000218	High palate	0	OSGEP CL E G H	55644	617729	GALLOWAY-MOWAT SYNDROME 3	617729	C4540266	OMIM	1	106	18028	610107
HP:0000218	HP:0000218	High palate	0	OTUD6B CL E G H	51633	505237				ORPHA	1	70	24281	612021
HP:0000218	HP:0000218	High palate	0	OTUD6B CL E G H	51633	617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	617452	C4479520	OMIM	1	70	24281	612021
HP:0000218	HP:0000218	High palate	0	PAK3 CL E G H	5063	300558	Mental retardation 30, X-linked	300558	C0796237	OMIM	1	292	8592	300142
HP:0000218	HP:0000218	High palate	0	PAX1 CL E G H	5075	2792	Hyperbilirubinemia type 1			ORPHA	1	208	8615	167411
HP:0000218	HP:0000218	High palate	0	PDE6D CL E G H	5147	2754				ORPHA	1	71	8788	602676
HP:0000218	HP:0000218	High palate	0	PDHX CL E G H	8050	245349	Pyruvate dehydrogenase E3-binding protein deficiency	245349	C1855553	OMIM	1	282	21350	608769
HP:0000218	HP:0000218	High palate	0	PEX1 CL E G H	5189	912				ORPHA	1	1205	8850	602136
HP:0000218	HP:0000218	High palate	0	PEX1 CL E G H	5189	214100	Zellweger syndrome	214100	C0043459	OMIM	1	1205	8850	602136
HP:0000218	HP:0000218	High palate	0	PEX10 CL E G H	5192	912				ORPHA	1	654	8851	602859
HP:0000218	HP:0000218	High palate	0	PEX11B CL E G H	8799	912				ORPHA	1	350	8853	603867
HP:0000218	HP:0000218	High palate	0	PEX12 CL E G H	5193	912				ORPHA	1	360	8854	601758
HP:0000218	HP:0000218	High palate	0	PEX13 CL E G H	5194	912				ORPHA	1	397	8855	601789
HP:0000218	HP:0000218	High palate	0	PEX14 CL E G H	5195	912				ORPHA	1	374	8856	601791
HP:0000218	HP:0000218	High palate	0	PEX16 CL E G H	9409	912				ORPHA	1	346	8857	603360
HP:0000218	HP:0000218	High palate	0	PEX19 CL E G H	5824	912				ORPHA	1	304	9713	600279
HP:0000218	HP:0000218	High palate	0	PEX2 CL E G H	5828	912				ORPHA	1	366	9717	170993
HP:0000218	HP:0000218	High palate	0	PEX26 CL E G H	55670	912				ORPHA	1	431	22965	608666
HP:0000218	HP:0000218	High palate	0	PEX26 CL E G H	55670	614872	Peroxisome biogenesis disorder 7A	614872	C3539168	OMIM	1	431	22965	608666
HP:0000218	HP:0000218	High palate	0	PEX3 CL E G H	8504	912				ORPHA	1	271	8858	603164
HP:0000218	HP:0000218	High palate	0	PEX3 CL E G H	8504	614882	Peroxisome biogenesis disorder 10A	614882	C3553999	OMIM	1	271	8858	603164
HP:0000218	HP:0000218	High palate	0	PEX5 CL E G H	5830	912				ORPHA	1	689	9719	600414
HP:0000218	HP:0000218	High palate	0	PEX5 CL E G H	5830	202370	Neonatal adrenoleucodystrophy	202370	C0282525	OMIM	1	689	9719	600414
HP:0000218	HP:0000218	High palate	0	PEX6 CL E G H	5190	912				ORPHA	1	1085	8859	601498
HP:0000218	HP:0000218	High palate	0	PGM3 CL E G H	5238	615816	Immunodeficiency 23	615816	C4014371	OMIM	1	265	8907	172100
HP:0000218	HP:0000218	High palate	0	PHIP CL E G H	55023	617991	DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES	617991	CN248510	OMIM	1	249	15673	612870
HP:0000218	HP:0000218	High palate	0	PIEZO2 CL E G H	63895	376				ORPHA	1	755	26270	613629
HP:0000218	HP:0000218	High palate	0	PIEZO2 CL E G H	63895	617146	Arthrogryposis, distal, with impaired proprioception and touch	617146	C4310692	OMIM	1	755	26270	613629
HP:0000218	HP:0000218	High palate	0	PIEZO2 CL E G H	63895	114300	Gordon's syndrome	114300	C0220666	OMIM	1	755	26270	613629
HP:0000218	HP:0000218	High palate	0	PIEZO2 CL E G H	63895	248700	Marden-Walker syndrome	248700	C0796033	OMIM	1	755	26270	613629
HP:0000218	HP:0000218	High palate	0	PIEZO2 CL E G H	63895	108145	Oculomelic amyoplasia	108145	C1862472	OMIM	1	755	26270	613629
HP:0000218	HP:0000218	High palate	0	PIGA CL E G H	5277	300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	300868	C3275508	OMIM	1	421	8957	311770
HP:0000218	HP:0000218	High palate	0	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	18	8964	600154
HP:0000218	HP:0000218	High palate	0	PIGN CL E G H	23556	2059				ORPHA	1	857	8967	606097
HP:0000218	HP:0000218	High palate	0	PIGN CL E G H	23556	280633	Multiple congenital anomalies-hypotonia-seizures syndrome		CN228166	ORPHA	1	857	8967	606097
HP:0000218	HP:0000218	High palate	0	PIGN CL E G H	23556	614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	614080	C3279775	OMIM	1	857	8967	606097
HP:0000218	HP:0000218	High palate	0	PIGT CL E G H	51604	615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	615398	C3809356	OMIM	1	161	14938	610272
HP:0000218	HP:0000218	High palate	0	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	36	28213	610662
HP:0000218	HP:0000218	High palate	0	PIK3CA CL E G H	5290	615108	Cowden syndrome 5	615108	C3554518	OMIM	1	975	8975	171834
HP:0000218	HP:0000218	High palate	0	PLAA CL E G H	9373	521426				ORPHA	1	338	9043	603873
HP:0000218	HP:0000218	High palate	0	PLAA CL E G H	9373	617527	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES	617527	C4479631	OMIM	1	338	9043	603873
HP:0000218	HP:0000218	High palate	0	PLAGL1 CL E G H	5325	96191				ORPHA	1	32	9046	603044
HP:0000218	HP:0000218	High palate	0	POGZ CL E G H	23126	616364	White-sutton syndrome	616364	C4225351	OMIM	1	478	18801	614787
HP:0000218	HP:0000218	High palate	0	PPP1CB CL E G H	5500	617506	Noonan syndrome-like disorder with loose anagen hair 2	617506	C4479577	OMIM	1	161	9282	600590
HP:0000218	HP:0000218	High palate	0	PQBP1 CL E G H	10084	309500	Renpenning syndrome 1	309500	C0796135	OMIM	1	269	9330	300463
HP:0000218	HP:0000218	High palate	0	PRMT7 CL E G H	54496	617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	617157	C4310689	OMIM	1	131	25557	610087
HP:0000218	HP:0000218	High palate	0	PSAT1 CL E G H	29968	616038	Neu-laxova syndrome 2	616038	C4015019	OMIM	1	443	19129	610936
HP:0000218	HP:0000218	High palate	0	PTEN CL E G H	5728	158350	Cowden syndrome 1	158350	CN072330	OMIM	1	2750	9588	601728
HP:0000218	HP:0000218	High palate	0	PTPN11 CL E G H	5781	648				ORPHA	1	716	9644	176876
HP:0000218	HP:0000218	High palate	0	PTPN11 CL E G H	5781	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	716	9644	176876
HP:0000218	HP:0000218	High palate	0	PTPN14 CL E G H	5784	613611	Choanal atresia and lymphedema	613611	C3150875	OMIM	1	110	9647	603155
HP:0000218	HP:0000218	High palate	0	PURA CL E G H	5813	616158	Mental retardation, autosomal dominant 31	616158	C4015357	OMIM	1	393	9701	600473
HP:0000218	HP:0000218	High palate	0	PUS1 CL E G H	80324	2598	Mitochondrial myopathy and sideroblastic anemia		CN220387	ORPHA	1	337	15508	608109
HP:0000218	HP:0000218	High palate	0	PUS1 CL E G H	80324	600462	Myopathy, lactic acidosis, and sideroblastic anemia 1	600462	C1838103	OMIM	1	337	15508	608109
HP:0000218	HP:0000218	High palate	0	PYROXD1 CL E G H	79912	617258	Myopathy, myofibrillar, 8	617258	C4310645	OMIM	1	443	26162	617220
HP:0000218	HP:0000218	High palate	0	RAB18 CL E G H	22931	2510				ORPHA	1	180	14244	602207
HP:0000218	HP:0000218	High palate	0	RAB23 CL E G H	51715	201000	Carpenter syndrome 1	201000	C1275078	OMIM	1	187	14263	606144
HP:0000218	HP:0000218	High palate	0	RAB3GAP1 CL E G H	22930	2510				ORPHA	1	317	17063	602536
HP:0000218	HP:0000218	High palate	0	RAB3GAP1 CL E G H	22930	1387	Cleft palate cardiac defect ectrodactyly			ORPHA	1	317	17063	602536
HP:0000218	HP:0000218	High palate	0	RAB3GAP2 CL E G H	25782	2510				ORPHA	1	474	17168	609275
HP:0000218	HP:0000218	High palate	0	RAB3GAP2 CL E G H	25782	1387	Cleft palate cardiac defect ectrodactyly			ORPHA	1	474	17168	609275
HP:0000218	HP:0000218	High palate	0	RAB3GAP2 CL E G H	25782	212720	Martsolf syndrome	212720	C0796037	OMIM	1	474	17168	609275
HP:0000218	HP:0000218	High palate	0	RAD21 CL E G H	5885	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	293	9811	606462
HP:0000218	HP:0000218	High palate	0	RAF1 CL E G H	5894	648				ORPHA	1	827	9829	164760
HP:0000218	HP:0000218	High palate	0	RAP1A CL E G H	5906	2322				ORPHA	1	38	9855	179520
HP:0000218	HP:0000218	High palate	0	RAP1B CL E G H	5908	2322				ORPHA	1	30	9857	179530
HP:0000218	HP:0000218	High palate	0	RAPSN CL E G H	5913	98913				ORPHA	1	433	9863	601592
HP:0000218	HP:0000218	High palate	0	RAPSN CL E G H	5913	616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	616326	C4225367	OMIM	1	433	9863	601592
HP:0000218	HP:0000218	High palate	0	RAPSN CL E G H	5913	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	433	9863	601592
HP:0000218	HP:0000218	High palate	0	RASA2 CL E G H	5922	648				ORPHA	1	371	9872	601589
HP:0000218	HP:0000218	High palate	0	RBM10 CL E G H	8241	311900	TARP syndrome	311900	C1839463	OMIM	1	229	9896	300080
HP:0000218	HP:0000218	High palate	0	RECQL4 CL E G H	9401	1225				ORPHA	1	3666	9949	603780
HP:0000218	HP:0000218	High palate	0	RECQL4 CL E G H	9401	218600	Baller-Gerold syndrome	218600	C0265308	OMIM	1	3666	9949	603780
HP:0000218	HP:0000218	High palate	0	RECQL4 CL E G H	9401	266280	Rapadilino syndrome	266280	C1849453	OMIM	1	3666	9949	603780
HP:0000218	HP:0000218	High palate	0	RET CL E G H	5979	162300	Multiple endocrine neoplasia, type 2b	162300	C0025269	OMIM	1	2692	9967	164761
HP:0000218	HP:0000218	High palate	0	RIN2 CL E G H	54453	217335				ORPHA	1	301	18750	610222
HP:0000218	HP:0000218	High palate	0	RIT1 CL E G H	6016	648				ORPHA	1	210	10023	609591
HP:0000218	HP:0000218	High palate	0	RNASEH1 CL E G H	246243	329336				ORPHA	1	104	18466	604123
HP:0000218	HP:0000218	High palate	0	RPS19 CL E G H	6223	105650	Diamond-Blackfan anemia 1	105650	C2676137	OMIM	1	172	10402	603474
HP:0000218	HP:0000218	High palate	0	RPS23 CL E G H	6228	617412	MacInnes syndrome	617412	C4479431	OMIM	1	16	10410	603683
HP:0000218	HP:0000218	High palate	0	RPS6KA3 CL E G H	6197	303600	Coffin-Lowry syndrome	303600	C0265252	OMIM	1	426	10432	300075
HP:0000218	HP:0000218	High palate	0	RPS6KA3 CL E G H	6197	192	Karandikar Maria Kamble syndrome			ORPHA	1	426	10432	300075
HP:0000218	HP:0000218	High palate	0	RRAS CL E G H	6237	648				ORPHA	1	213	10447	165090
HP:0000218	HP:0000218	High palate	0	RRM2B CL E G H	50484	329336				ORPHA	1	293	17296	604712
HP:0000218	HP:0000218	High palate	0	RYR1 CL E G H	6261	169186				ORPHA	1	5062	10483	180901
HP:0000218	HP:0000218	High palate	0	RYR1 CL E G H	6261	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	5062	10483	180901
HP:0000218	HP:0000218	High palate	0	RYR1 CL E G H	6261	255320	Minicore myopathy	255320	C1850674	OMIM	1	5062	10483	180901
HP:0000218	HP:0000218	High palate	0	SATB2 CL E G H	23314	251019				ORPHA	1	566	21637	608148
HP:0000218	HP:0000218	High palate	0	SATB2 CL E G H	23314	612313	Chromosome 2q32-q33 deletion syndrome	612313	C2676739	OMIM	1	566	21637	608148
HP:0000218	HP:0000218	High palate	0	SC5D CL E G H	6309	46059				ORPHA	1	220	10547	602286
HP:0000218	HP:0000218	High palate	0	SCARF2 CL E G H	91179	600920	Marden Walker like syndrome	600920	C1833136	OMIM	1	446	19869	613619
HP:0000218	HP:0000218	High palate	0	SCN4A CL E G H	6329	98913				ORPHA	1	1391	10591	603967
HP:0000218	HP:0000218	High palate	0	SEC24D CL E G H	9871	616294	Cole-Carpenter syndrome 2	616294	C4225382	OMIM	1	286	10706	607186
HP:0000218	HP:0000218	High palate	0	SELENON CL E G H	57190	2020				ORPHA	1	537	15999	606210
HP:0000218	HP:0000218	High palate	0	SELENON CL E G H	57190	324604				ORPHA	1	537	15999	606210
HP:0000218	HP:0000218	High palate	0	SELENON CL E G H	57190	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	537	15999	606210
HP:0000218	HP:0000218	High palate	0	SELENON CL E G H	57190	602771	Eichsfeld type congenital muscular dystrophy	602771	C0410180	OMIM	1	537	15999	606210
HP:0000218	HP:0000218	High palate	0	SEMA5A CL E G H	9037	281	Ramer Ladda syndrome			ORPHA	1	174	10736	609297
HP:0000218	HP:0000218	High palate	0	SET CL E G H	6418	618106	MENTAL RETARDATION, AUTOSOMAL DOMINANT 58	618106	CN253713	OMIM	1	93	10760	600960
HP:0000218	HP:0000218	High palate	0	SETBP1 CL E G H	26040	616078	Mental retardation, autosomal dominant 29	616078	C4015141	OMIM	1	804	15573	611060
HP:0000218	HP:0000218	High palate	0	SETD2 CL E G H	29072	821				ORPHA	1	830	18420	612778
HP:0000218	HP:0000218	High palate	0	SETD5 CL E G H	55209	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	617	25566	615743
HP:0000218	HP:0000218	High palate	0	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	428	29242	613293
HP:0000218	HP:0000218	High palate	0	SHANK3 CL E G H	85358	606232	22q13.3 deletion syndrome	606232	C1853490	OMIM	1	776	14294	606230
HP:0000218	HP:0000218	High palate	0	SHOX CL E G H	6473	314795				ORPHA	1	311	10853	312865
HP:0000218	HP:0000218	High palate	0	SHOX CL E G H	6473	2632				ORPHA	1	311	10853	312865
HP:0000218	HP:0000218	High palate	0	SHOX CL E G H	6473	127300	Leri Weill dyschondrosteosis	127300	C0265309	OMIM	1	311	10853	312865
HP:0000218	HP:0000218	High palate	0	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	218	19353	607776
HP:0000218	HP:0000218	High palate	0	SIX1 CL E G H	6495	113650	Melnick-Fraser syndrome	113650	C0265234	OMIM	1	157	10887	601205
HP:0000218	HP:0000218	High palate	0	SLC12A6 CL E G H	9990	218000	Andermann syndrome	218000	C0795950	OMIM	1	911	10914	604878
HP:0000218	HP:0000218	High palate	0	SLC17A5 CL E G H	26503	269920	Sialic acid storage disease, severe infantile type	269920	C1096902	OMIM	1	411	10933	604322
HP:0000218	HP:0000218	High palate	0	SLC2A10 CL E G H	81031	208050	Arterial tortuosity syndrome	208050	C1859726	OMIM	1	493	13444	606145
HP:0000218	HP:0000218	High palate	0	SLC39A13 CL E G H	91252	612350	Spondylocheirodysplasia, Ehlers-Danlos syndrome-like	612350	C2676510	OMIM	1	228	20859	608735
HP:0000218	HP:0000218	High palate	0	SMAD3 CL E G H	4088	284984				ORPHA	1	834	6769	603109
HP:0000218	HP:0000218	High palate	0	SMAD3 CL E G H	4088	613795	Loeys-Dietz syndrome 3	613795	C3151087	OMIM	1	834	6769	603109
HP:0000218	HP:0000218	High palate	0	SMC1A CL E G H	8243	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	798	11111	300040
HP:0000218	HP:0000218	High palate	0	SMC1A CL E G H	8243	300590	Congenital muscular hypertrophy-cerebral syndrome	300590	C1802395	OMIM	1	798	11111	300040
HP:0000218	HP:0000218	High palate	0	SMC3 CL E G H	9126	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	358	2468	606062
HP:0000218	HP:0000218	High palate	0	SMCHD1 CL E G H	23347	603457	Arhinia choanal atresia microphthalmia	603457	C1863878	OMIM	1	1011	29090	614982
HP:0000218	HP:0000218	High palate	0	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	86	20318	608488
HP:0000218	HP:0000218	High palate	0	SNRPB CL E G H	6628	117650	Cerebro-costo-mandibular syndrome	117650	C0265342	OMIM	1	74	11153	182282
HP:0000218	HP:0000218	High palate	0	SNX14 CL E G H	57231	616354	Spinocerebellar ataxia, autosomal recessive 20	616354	C4225355	OMIM	1	162	14977	616105
HP:0000218	HP:0000218	High palate	0	SON CL E G H	6651	617140	ZTTK syndrome	617140	C4310696	OMIM	1	549	11183	182465
HP:0000218	HP:0000218	High palate	0	SOS1 CL E G H	6654	648				ORPHA	1	1224	11187	182530
HP:0000218	HP:0000218	High palate	0	SOS2 CL E G H	6655	648				ORPHA	1	916	11188	601247
HP:0000218	HP:0000218	High palate	0	SP7 CL E G H	121340	613849	Osteogenesis imperfecta type 12	613849	C3151433	OMIM	1	93	17321	606633
HP:0000218	HP:0000218	High palate	0	SPECC1L CL E G H	23384	145410	Opitz G/BBB syndrome	145410	C1801950	OMIM	1	230	29022	614140
HP:0000218	HP:0000218	High palate	0	SPEG CL E G H	10290	169186				ORPHA	1	907	16901	615950
HP:0000218	HP:0000218	High palate	0	SPEG CL E G H	10290	615959	Myopathy, centronuclear, 5	615959	C4014814	OMIM	1	907	16901	615950
HP:0000218	HP:0000218	High palate	0	SPRED1 CL E G H	161742	611431	Legius syndrome	611431	C1969623	OMIM	1	603	20249	609291
HP:0000218	HP:0000218	High palate	0	STAC3 CL E G H	246329	255995	Native American myopathy	255995	C1850625	OMIM	1	188	28423	615521
HP:0000218	HP:0000218	High palate	0	STAT3 CL E G H	6774	147060	Hyperimmunoglobulin E syndrome	147060	C3489795	OMIM	1	505	11364	102582
HP:0000218	HP:0000218	High palate	0	TAB2 CL E G H	23118	228410				ORPHA	1	175	17075	605101
HP:0000218	HP:0000218	High palate	0	TAF6 CL E G H	6878	617126	Alazami-Yuan syndrome	617126	C4310702	OMIM	1	87	11540	602955
HP:0000218	HP:0000218	High palate	0	TBC1D20 CL E G H	128637	2510				ORPHA	1	154	16133	611663
HP:0000218	HP:0000218	High palate	0	TBC1D24 CL E G H	57465	220500	Digitorenocerebral syndrome	220500	C1857345	OMIM	1	795	29203	613577
HP:0000218	HP:0000218	High palate	0	TBX1 CL E G H	6899	188400	DiGeorge sequence	188400	C0012236	OMIM	1	972	11592	602054
HP:0000218	HP:0000218	High palate	0	TBX4 CL E G H	9496	147891	Ischiopatellar dysplasia	147891	C1840061	OMIM	1	238	11603	601719
HP:0000218	HP:0000218	High palate	0	TCTN3 CL E G H	26123	2754				ORPHA	1	327	24519	613847
HP:0000218	HP:0000218	High palate	0	TCTN3 CL E G H	26123	258860	Orofacial-digital syndrome IV	258860	C0406727	OMIM	1	327	24519	613847
HP:0000218	HP:0000218	High palate	0	TFAP2A CL E G H	7020	1297				ORPHA	1	158	11742	107580
HP:0000218	HP:0000218	High palate	0	TGDS CL E G H	23483	616145	Catel Manzke syndrome	616145	C1844887	OMIM	1	122	20324	616146
HP:0000218	HP:0000218	High palate	0	TGFB2 CL E G H	7042	614816	Loeys-Dietz syndrome 4	614816	C3553762	OMIM	1	540	11768	190220
HP:0000218	HP:0000218	High palate	0	TGFB3 CL E G H	7043	615582	Loeys-Dietz syndrome 5	615582	C3810012	OMIM	1	469	11769	190230
HP:0000218	HP:0000218	High palate	0	TGFBR1 CL E G H	7046	60030				ORPHA	1	778	11772	190181
HP:0000218	HP:0000218	High palate	0	TGFBR2 CL E G H	7048	60030				ORPHA	1	842	11773	190182
HP:0000218	HP:0000218	High palate	0	TLK2 CL E G H	11011	618050	MENTAL RETARDATION, AUTOSOMAL DOMINANT 57	618050	CN252334	OMIM	1	122	11842	608439
HP:0000218	HP:0000218	High palate	0	TMCO1 CL E G H	54499	213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	213980	C1859252	OMIM	1	65	18188	614123
HP:0000218	HP:0000218	High palate	0	TMEM216 CL E G H	51259	2754				ORPHA	1	195	25018	613277
HP:0000218	HP:0000218	High palate	0	TMEM216 CL E G H	51259	608091	Joubert syndrome 2	608091	C1842577	OMIM	1	195	25018	613277
HP:0000218	HP:0000218	High palate	0	TNNI2 CL E G H	7136	1147				ORPHA	1	113	11946	191043
HP:0000218	HP:0000218	High palate	0	TNNI2 CL E G H	7136	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	113	11946	191043
HP:0000218	HP:0000218	High palate	0	TNNT3 CL E G H	7140	1147				ORPHA	1	196	11950	600692
HP:0000218	HP:0000218	High palate	0	TNNT3 CL E G H	7140	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	196	11950	600692
HP:0000218	HP:0000218	High palate	0	TPM2 CL E G H	7169	171436				ORPHA	1	280	12011	190990
HP:0000218	HP:0000218	High palate	0	TPM2 CL E G H	7169	171881				ORPHA	1	280	12011	190990
HP:0000218	HP:0000218	High palate	0	TPM2 CL E G H	7169	2020				ORPHA	1	280	12011	190990
HP:0000218	HP:0000218	High palate	0	TPM2 CL E G H	7169	1147				ORPHA	1	280	12011	190990
HP:0000218	HP:0000218	High palate	0	TPM2 CL E G H	7169	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	280	12011	190990
HP:0000218	HP:0000218	High palate	0	TPM2 CL E G H	7169	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	280	12011	190990
HP:0000218	HP:0000218	High palate	0	TPM2 CL E G H	7169	609285	Nemaline myopathy 4	609285	C1836447	OMIM	1	280	12011	190990
HP:0000218	HP:0000218	High palate	0	TPM3 CL E G H	7170	171881				ORPHA	1	300	12012	191030
HP:0000218	HP:0000218	High palate	0	TPM3 CL E G H	7170	2020				ORPHA	1	300	12012	191030
HP:0000218	HP:0000218	High palate	0	TPM3 CL E G H	7170	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	300	12012	191030
HP:0000218	HP:0000218	High palate	0	TPM3 CL E G H	7170	609284	Nemaline myopathy 1	609284	C1836448	OMIM	1	300	12012	191030
HP:0000218	HP:0000218	High palate	0	TRIO CL E G H	7204	617061	Mental retardation, autosomal dominant 44	617061	C4310740	OMIM	1	930	12303	601893
HP:0000218	HP:0000218	High palate	0	TRIP12 CL E G H	9320	617752	MENTAL RETARDATION, AUTOSOMAL DOMINANT 49	617752	C4540324	OMIM	1	247	12306	604506
HP:0000218	HP:0000218	High palate	0	TRIP4 CL E G H	9325	486815				ORPHA	1	139	12310	604501
HP:0000218	HP:0000218	High palate	0	TRPS1 CL E G H	7227	77258				ORPHA	1	400	12340	604386
HP:0000218	HP:0000218	High palate	0	TTN CL E G H	7273	324604				ORPHA	1	22859	12403	188840
HP:0000218	HP:0000218	High palate	0	TTN CL E G H	7273	169186				ORPHA	1	22859	12403	188840
HP:0000218	HP:0000218	High palate	0	TUBB CL E G H	203068	156610	Michelin-tire baby	156610	C0473586	OMIM	1	85	20778	191130
HP:0000218	HP:0000218	High palate	0	TWIST1 CL E G H	7291	617746	SWEENEY-COX SYNDROME	617746	C4540299	OMIM	1	176	12428	601622
HP:0000218	HP:0000218	High palate	0	UPF3B CL E G H	65109	776				ORPHA	1	314	20439	300298
HP:0000218	HP:0000218	High palate	0	UPF3B CL E G H	65109	300676	Mental retardation, syndromic 14, X-linked	300676	C1970822	OMIM	1	314	20439	300298
HP:0000218	HP:0000218	High palate	0	WDR35 CL E G H	57539	613610	Cranioectodermal dysplasia 2	613610	C3150874	OMIM	1	523	29250	613602
HP:0000218	HP:0000218	High palate	0	WDR35 CL E G H	57539	614091	Short rib polydactyly syndrome 5	614091	C3279792	OMIM	1	523	29250	613602
HP:0000218	HP:0000218	High palate	0	WDR73 CL E G H	84942	251300	Galloway-Mowat syndrome 1	251300	CN031715	OMIM	1	138	25928	616144
HP:0000218	HP:0000218	High palate	0	WNT7A CL E G H	7476	276820	Ulna and fibula absence of with severe limb deficiency	276820	C1848651	OMIM	1	83	12786	601570
HP:0000218	HP:0000218	High palate	0	YARS2 CL E G H	51067	2598	Mitochondrial myopathy and sideroblastic anemia		CN220387	ORPHA	1	156	24249	610957
HP:0000218	HP:0000218	High palate	0	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	246	21143	614064
HP:0000218	HP:0000218	High palate	0	ZC4H2 CL E G H	55906	314580	Wieacker Wolff syndrome	314580	C0796200	OMIM	1	237	24931	300897
HP:0000218	HP:0000218	High palate	0	ZDHHC15 CL E G H	158866	300577	Mental retardation 91, X-linked	300577	C1845142	OMIM	1	178	20342	300576
HP:0000218	HP:0000218	High palate	0	ZDHHC9 CL E G H	51114	776				ORPHA	1	331	18475	300646
HP:0000218	HP:0000218	High palate	0	ZMPSTE24 CL E G H	10269	608612	Mandibuloacral dysplasia with type B lipodystrophy	608612	C1837756	OMIM	1	176	12877	606480
HP:0000218	HP:0000218	High palate	0	ZNF341 CL E G H	84905	618282	618282	618282		OMIM	1	313	15992	0
HP:0000218	HP:0002705	High, narrow palate	1	A2ML1 CL E G H	144568	648				ORPHA	1	1146	23336	610627
HP:0000218	HP:0002705	High, narrow palate	1	ABCC6 CL E G H	368	177850	Pseudoxanthoma elasticum, forme fruste	177850	C1867450	OMIM	1	1307	57	603234
HP:0000218	HP:0002705	High, narrow palate	1	ACTA1 CL E G H	58	2020				ORPHA	1	392	129	102610
HP:0000218	HP:0002705	High, narrow palate	1	ACTA1 CL E G H	58	171436				ORPHA	1	392	129	102610
HP:0000218	HP:0002705	High, narrow palate	1	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	392	129	102610
HP:0000218	HP:0002705	High, narrow palate	1	ACTA1 CL E G H	58	161800	Nemaline myopathy 3	161800	C3711389	OMIM	1	392	129	102610
HP:0000218	HP:0002705	High, narrow palate	1	ADAM22 CL E G H	53616	617933	Early infantile epileptic encephalopathy 61	617933	CN244550	OMIM	1	52	201	603709
HP:0000218	HP:0002705	High, narrow palate	1	AGRN CL E G H	375790	98913				ORPHA	1	1782	329	103320
HP:0000218	HP:0002705	High, narrow palate	1	AK9 CL E G H	221264	98913				ORPHA	1	48	33814	615358
HP:0000218	HP:0002705	High, narrow palate	1	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	634	391	164730
HP:0000218	HP:0002705	High, narrow palate	1	ALDH6A1 CL E G H	4329	614105	Methylmalonate semialdehyde dehydrogenase deficiency	614105	C3279840	OMIM	1	157	7179	603178
HP:0000218	HP:0002705	High, narrow palate	1	ALG14 CL E G H	199857	353327				ORPHA	1	104	28287	612866
HP:0000218	HP:0002705	High, narrow palate	1	ALG2 CL E G H	85365	353327				ORPHA	1	262	23159	607905
HP:0000218	HP:0002705	High, narrow palate	1	ALG3 CL E G H	10195	601110	Congenital disorder of glycosylation type 1D	601110	C1832736	OMIM	1	179	23056	608750
HP:0000218	HP:0002705	High, narrow palate	1	ANK1 CL E G H	286	251066				ORPHA	1	642	492	612641
HP:0000218	HP:0002705	High, narrow palate	1	ANKRD11 CL E G H	29123	261250	16q24.3 microdeletion syndrome		CN202174	ORPHA	1	1515	21316	611192
HP:0000218	HP:0002705	High, narrow palate	1	ANOS1 CL E G H	3730	308700	Kallmann syndrome 1	308700	C1563719	OMIM	1	426	6211	300836
HP:0000218	HP:0002705	High, narrow palate	1	AP1S2 CL E G H	8905	85335				ORPHA	1	218	560	300629
HP:0000218	HP:0002705	High, narrow palate	1	AP4M1 CL E G H	9179	612936	Spastic paraplegia 50, autosomal recessive	612936	C2752008	OMIM	1	311	574	602296
HP:0000218	HP:0002705	High, narrow palate	1	AP4S1 CL E G H	11154	614067	Spastic paraplegia 52, autosomal recessive	614067	C3279743	OMIM	1	122	575	607243
HP:0000218	HP:0002705	High, narrow palate	1	APC CL E G H	324	261584				ORPHA	1	11490	583	611731
HP:0000218	HP:0002705	High, narrow palate	1	APC2 CL E G H	10297	821				ORPHA	1	235	24036	612034
HP:0000218	HP:0002705	High, narrow palate	1	ARCN1 CL E G H	372	617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	617164	C4310686	OMIM	1	123	649	600820
HP:0000218	HP:0002705	High, narrow palate	1	ARHGEF2 CL E G H	9181	617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	617523	C4479613	OMIM	1	44	682	607560
HP:0000218	HP:0002705	High, narrow palate	1	ARID1B CL E G H	57492	251056				ORPHA	1	1206	18040	614556
HP:0000218	HP:0002705	High, narrow palate	1	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	1206	18040	614556
HP:0000218	HP:0002705	High, narrow palate	1	ARX CL E G H	170302	300215	Lissencephaly 2, X-linked	300215	C1846171	OMIM	1	679	18060	300382
HP:0000218	HP:0002705	High, narrow palate	1	ARX CL E G H	170302	300004	Proud Levine Carpenter syndrome	300004	C0796124	OMIM	1	679	18060	300382
HP:0000218	HP:0002705	High, narrow palate	1	ASXL3 CL E G H	80816	615485	Bainbridge-Ropers syndrome	615485	C3809650	OMIM	1	491	29357	615115
HP:0000218	HP:0002705	High, narrow palate	1	ATP6V0A2 CL E G H	23545	2834				ORPHA	1	484	18481	611716
HP:0000218	HP:0002705	High, narrow palate	1	ATP6V0A2 CL E G H	23545	357074				ORPHA	1	484	18481	611716
HP:0000218	HP:0002705	High, narrow palate	1	ATP6V0A2 CL E G H	23545	219200	Cutis laxa with osteodystrophy	219200	C0268355	OMIM	1	484	18481	611716
HP:0000218	HP:0002705	High, narrow palate	1	ATP6V0A2 CL E G H	23545	278250	Wrinkly skin syndrome	278250	C0406587	OMIM	1	484	18481	611716
HP:0000218	HP:0002705	High, narrow palate	1	ATP6V1A CL E G H	523	357074				ORPHA	1	123	851	607027
HP:0000218	HP:0002705	High, narrow palate	1	ATP6V1E1 CL E G H	529	357074				ORPHA	1	172	857	108746
HP:0000218	HP:0002705	High, narrow palate	1	ATP6V1E1 CL E G H	529	617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC	617402	C4479387	OMIM	1	172	857	108746
HP:0000218	HP:0002705	High, narrow palate	1	ATP7A CL E G H	538	304150	Cutis laxa, X-linked	304150	C0268353	OMIM	1	1283	869	300011
HP:0000218	HP:0002705	High, narrow palate	1	ATR CL E G H	545	210600	Seckel syndrome 1	210600	CN033164	OMIM	1	2273	882	601215
HP:0000218	HP:0002705	High, narrow palate	1	ATRX CL E G H	546	309580	Mental retardation-hypotonic facies syndrome X-linked, 1	309580	C0796003	OMIM	1	1544	886	300032
HP:0000218	HP:0002705	High, narrow palate	1	B3GALT6 CL E G H	126792	93359				ORPHA	1	366	17978	615291
HP:0000218	HP:0002705	High, narrow palate	1	BBS1 CL E G H	582	209900	Bardet-Biedl syndrome 1	209900	C2936862	OMIM	1	694	966	209901
HP:0000218	HP:0002705	High, narrow palate	1	BIN1 CL E G H	274	169186				ORPHA	1	552	1052	601248
HP:0000218	HP:0002705	High, narrow palate	1	BMP2 CL E G H	650	617877	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES	617877	CN807949	OMIM	1	128	1069	112261
HP:0000218	HP:0002705	High, narrow palate	1	BRAF CL E G H	673	648				ORPHA	1	948	1097	164757
HP:0000218	HP:0002705	High, narrow palate	1	BRAF CL E G H	673	115150	Cardiofaciocutaneous syndrome 1	115150	CN029449	OMIM	1	948	1097	164757
HP:0000218	HP:0002705	High, narrow palate	1	BRAF CL E G H	673	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	948	1097	164757
HP:0000218	HP:0002705	High, narrow palate	1	BRAF CL E G H	673	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	948	1097	164757
HP:0000218	HP:0002705	High, narrow palate	1	BRAT1 CL E G H	221927	618056	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES	618056	CN252657	OMIM	1	960	21701	614506
HP:0000218	HP:0002705	High, narrow palate	1	CASK CL E G H	8573	300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	300749	C2677903	OMIM	1	706	1497	300172
HP:0000218	HP:0002705	High, narrow palate	1	CBS CL E G H	875	236200	Homocystinuria due to CBS deficiency	236200	C3150344	OMIM	1	967	1550	613381
HP:0000218	HP:0002705	High, narrow palate	1	CCDC47 CL E G H	57003	618268	618268	618268		OMIM	1	27	24856	0
HP:0000218	HP:0002705	High, narrow palate	1	CD96 CL E G H	10225	211750	C syndrome	211750	C0796095	OMIM	1	72	16892	606037
HP:0000218	HP:0002705	High, narrow palate	1	CD96 CL E G H	10225	1308	Chorioretinopathy dominant form microcephaly			ORPHA	1	72	16892	606037
HP:0000218	HP:0002705	High, narrow palate	1	CDC45 CL E G H	8318	617063	Meier-gorlin syndrome 7	617063	C4310738	OMIM	1	567	1739	603465
HP:0000218	HP:0002705	High, narrow palate	1	CDH11 CL E G H	1009	211380	Brachioskeletogenital syndrome	211380	C0809936	OMIM	1	59	1750	600023
HP:0000218	HP:0002705	High, narrow palate	1	CEP152 CL E G H	22995	613823	Seckel syndrome 5	613823	C3151187	OMIM	1	450	29298	613529
HP:0000218	HP:0002705	High, narrow palate	1	CFL2 CL E G H	1073	171436				ORPHA	1	147	1875	601443
HP:0000218	HP:0002705	High, narrow palate	1	CFL2 CL E G H	1073	610687	Nemaline myopathy 7	610687	C1853154	OMIM	1	147	1875	601443
HP:0000218	HP:0002705	High, narrow palate	1	CHAMP1 CL E G H	283489	616579	Mental retardation, autosomal dominant 40	616579	C4225275	OMIM	1	216	20311	616327
HP:0000218	HP:0002705	High, narrow palate	1	CHRNA1 CL E G H	1134	98913				ORPHA	1	398	1955	100690
HP:0000218	HP:0002705	High, narrow palate	1	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	398	1955	100690
HP:0000218	HP:0002705	High, narrow palate	1	CHRNB1 CL E G H	1140	98913				ORPHA	1	357	1961	100710
HP:0000218	HP:0002705	High, narrow palate	1	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	357	1961	100710
HP:0000218	HP:0002705	High, narrow palate	1	CHRND CL E G H	1144	98913				ORPHA	1	408	1965	100720
HP:0000218	HP:0002705	High, narrow palate	1	CHRND CL E G H	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	616322	C4225371	OMIM	1	408	1965	100720
HP:0000218	HP:0002705	High, narrow palate	1	CHRND CL E G H	1144	616323	Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency	616323	C4225370	OMIM	1	408	1965	100720
HP:0000218	HP:0002705	High, narrow palate	1	CHRNE CL E G H	1145	98913				ORPHA	1	795	1966	100725
HP:0000218	HP:0002705	High, narrow palate	1	CHRNE CL E G H	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	795	1966	100725
HP:0000218	HP:0002705	High, narrow palate	1	CHRNG CL E G H	1146	2990				ORPHA	1	220	1967	100730
HP:0000218	HP:0002705	High, narrow palate	1	CHRNG CL E G H	1146	265000	Multiple pterygium syndrome Escobar type	265000	C0265261	OMIM	1	220	1967	100730
HP:0000218	HP:0002705	High, narrow palate	1	CHST14 CL E G H	113189	601776	Ehlers-Danlos syndrome, musculocontractural type	601776	C1866294	OMIM	1	211	24464	608429
HP:0000218	HP:0002705	High, narrow palate	1	CHST3 CL E G H	9469	143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	143095	C1840471	OMIM	1	352	1971	603799
HP:0000218	HP:0002705	High, narrow palate	1	CLCF1 CL E G H	23529	610313	Cold-induced sweating syndrome 2	610313	C1853198	OMIM	1	33	17412	607672
HP:0000218	HP:0002705	High, narrow palate	1	CLCF1 CL E G H	23529	1545	Corsello Opitz syndrome			ORPHA	1	33	17412	607672
HP:0000218	HP:0002705	High, narrow palate	1	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	61	16999	608757
HP:0000218	HP:0002705	High, narrow palate	1	CLTC CL E G H	1213	617854	MENTAL RETARDATION, AUTOSOMAL DOMINANT 56	617854	CN787270	OMIM	1	390	2092	118955
HP:0000218	HP:0002705	High, narrow palate	1	CNTN1 CL E G H	1272	612540	Myopathy, congenital, compton-north	612540	C2675527	OMIM	1	476	2171	600016
HP:0000218	HP:0002705	High, narrow palate	1	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	267	8011	602346
HP:0000218	HP:0002705	High, narrow palate	1	COG1 CL E G H	9382	611209	COG1 congenital disorder of glycosylation	611209	C1970016	OMIM	1	279	6545	606973
HP:0000218	HP:0002705	High, narrow palate	1	COL12A1 CL E G H	1303	616470	Ullrich congenital muscular dystrophy 2	616470	C4225314	OMIM	1	1944	2188	120320
HP:0000218	HP:0002705	High, narrow palate	1	COL13A1 CL E G H	1305	98913				ORPHA	1	397	2190	120350
HP:0000218	HP:0002705	High, narrow palate	1	COL13A1 CL E G H	1305	616720	Myasthenic syndrome, congenital, 19	616720	C4225235	OMIM	1	397	2190	120350
HP:0000218	HP:0002705	High, narrow palate	1	COL6A1 CL E G H	1291	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1470	2211	120220
HP:0000218	HP:0002705	High, narrow palate	1	COL6A2 CL E G H	1292	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1644	2212	120240
HP:0000218	HP:0002705	High, narrow palate	1	COL6A3 CL E G H	1293	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	2414	2213	120250
HP:0000218	HP:0002705	High, narrow palate	1	CPLANE1 CL E G H	65250	2754				ORPHA	1	1426	25801	614571
HP:0000218	HP:0002705	High, narrow palate	1	CPLANE1 CL E G H	65250	277170	Orofaciodigital syndrome 6	277170	C2745997	OMIM	1	1426	25801	614571
HP:0000218	HP:0002705	High, narrow palate	1	CPT2 CL E G H	1376	608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	608836	C1833518	OMIM	1	720	2330	600650
HP:0000218	HP:0002705	High, narrow palate	1	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1255	2348	600140
HP:0000218	HP:0002705	High, narrow palate	1	CRLF1 CL E G H	9244	272430	Cold-induced sweating syndrome 1	272430	C1848947	OMIM	1	80	2364	604237
HP:0000218	HP:0002705	High, narrow palate	1	CRLF1 CL E G H	9244	1545	Corsello Opitz syndrome			ORPHA	1	80	2364	604237
HP:0000218	HP:0002705	High, narrow palate	1	CSNK2A1 CL E G H	1457	617062	Okur-chung neurodevelopmental syndrome	617062	C4310739	OMIM	1	196	2457	115440
HP:0000218	HP:0002705	High, narrow palate	1	CTNND2 CL E G H	1501	281	Ramer Ladda syndrome			ORPHA	1	313	2516	604275
HP:0000218	HP:0002705	High, narrow palate	1	CUL4B CL E G H	8450	85293				ORPHA	1	347	2555	300304
HP:0000218	HP:0002705	High, narrow palate	1	DBH CL E G H	1621	223360	Dopamine beta hydroxylase deficiency	223360	C0342687	OMIM	1	346	2689	609312
HP:0000218	HP:0002705	High, narrow palate	1	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	636	13681	603057
HP:0000218	HP:0002705	High, narrow palate	1	DDR2 CL E G H	4921	271665	Spondylometaepiphyseal dysplasia short limb-hand type	271665	C1849011	OMIM	1	266	2731	191311
HP:0000218	HP:0002705	High, narrow palate	1	DDX11 CL E G H	1663	613398	Warsaw breakage syndrome	613398	C3150658	OMIM	1	138	2736	601150
HP:0000218	HP:0002705	High, narrow palate	1	DHX30 CL E G H	22907	617804	NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE	617804	C4540496	OMIM	1	74	16716	616423
HP:0000218	HP:0002705	High, narrow palate	1	DOK7 CL E G H	285489	98913				ORPHA	1	840	26594	610285
HP:0000218	HP:0002705	High, narrow palate	1	DOK7 CL E G H	285489	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	840	26594	610285
HP:0000218	HP:0002705	High, narrow palate	1	DPAGT1 CL E G H	1798	353327				ORPHA	1	258	2995	191350
HP:0000218	HP:0002705	High, narrow palate	1	DPM2 CL E G H	8818	615042	Congenital disorder of glycosylation type 1u	615042	C3554385	OMIM	1	138	3006	603564
HP:0000218	HP:0002705	High, narrow palate	1	DSE CL E G H	29940	615539	Ehlers-Danlos syndrome, musculocontractural type 2	615539	C3809845	OMIM	1	255	21144	605942
HP:0000218	HP:0002705	High, narrow palate	1	EBP CL E G H	10682	300960	MEND syndrome	300960	C4085243	OMIM	1	291	3133	300205
HP:0000218	HP:0002705	High, narrow palate	1	ECM1 CL E G H	1893	530	Acute myeloblastic leukemia type 5			ORPHA	1	81	3153	602201
HP:0000218	HP:0002705	High, narrow palate	1	EFEMP2 CL E G H	30008	614437	Autosomal recessive cutis laxa type 1B	614437	C3280798	OMIM	1	358	3219	604633
HP:0000218	HP:0002705	High, narrow palate	1	EFNB1 CL E G H	1947	1520				ORPHA	1	214	3226	300035
HP:0000218	HP:0002705	High, narrow palate	1	EIF2AK3 CL E G H	9451	226980	Wolcott-Rallison dysplasia	226980	C0432217	OMIM	1	359	3255	604032
HP:0000218	HP:0002705	High, narrow palate	1	EIF4A3 CL E G H	9775	268305	Richieri Costa Pereira syndrome	268305	C1849348	OMIM	1	38	18683	608546
HP:0000218	HP:0002705	High, narrow palate	1	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	835	3373	602700
HP:0000218	HP:0002705	High, narrow palate	1	EP300 CL E G H	2033	613684	Rubinstein-Taybi syndrome 2	613684	C3150941	OMIM	1	835	3373	602700
HP:0000218	HP:0002705	High, narrow palate	1	EPG5 CL E G H	57724	1493	Congenital mesoblastic nephroma			ORPHA	1	1213	29331	615068
HP:0000218	HP:0002705	High, narrow palate	1	ERLIN2 CL E G H	11160	611225	Spastic paraplegia 18	611225	C2749936	OMIM	1	159	1356	611605
HP:0000218	HP:0002705	High, narrow palate	1	ESCO2 CL E G H	157570	268300	Roberts-SC phocomelia syndrome	268300	C0392475	OMIM	1	435	27230	609353
HP:0000218	HP:0002705	High, narrow palate	1	EYA1 CL E G H	2138	2792	Hyperbilirubinemia type 1			ORPHA	1	434	3519	601653
HP:0000218	HP:0002705	High, narrow palate	1	EYA1 CL E G H	2138	113650	Melnick-Fraser syndrome	113650	C0265234	OMIM	1	434	3519	601653
HP:0000218	HP:0002705	High, narrow palate	1	FAM20C CL E G H	56975	259775	Raine syndrome	259775	C1850106	OMIM	1	350	22140	611061
HP:0000218	HP:0002705	High, narrow palate	1	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	1312	23109	612411
HP:0000218	HP:0002705	High, narrow palate	1	FBN1 CL E G H	2200	154700	Marfan syndrome	154700	C0024796	OMIM	1	5970	3603	134797
HP:0000218	HP:0002705	High, narrow palate	1	FBN2 CL E G H	2201	115				ORPHA	1	2309	3604	612570
HP:0000218	HP:0002705	High, narrow palate	1	FBN2 CL E G H	2201	121050	Congenital contractural arachnodactyly	121050	C0220668	OMIM	1	2309	3604	612570
HP:0000218	HP:0002705	High, narrow palate	1	FGF8 CL E G H	2253	612702	Kallmann syndrome 6	612702	C2675188	OMIM	1	77	3686	600483
HP:0000218	HP:0002705	High, narrow palate	1	FGFR1 CL E G H	2260	93258				ORPHA	1	688	3688	136350
HP:0000218	HP:0002705	High, narrow palate	1	FGFR1 CL E G H	2260	166250	Osteoglophonic dysplasia	166250	C0432283	OMIM	1	688	3688	136350
HP:0000218	HP:0002705	High, narrow palate	1	FGFR1 CL E G H	2260	101600	Pfeiffer syndrome	101600	C1863356	OMIM	1	688	3688	136350
HP:0000218	HP:0002705	High, narrow palate	1	FGFR2 CL E G H	2263	93258				ORPHA	1	567	3689	176943
HP:0000218	HP:0002705	High, narrow palate	1	FGFR2 CL E G H	2263	93260				ORPHA	1	567	3689	176943
HP:0000218	HP:0002705	High, narrow palate	1	FGFR2 CL E G H	2263	168624				ORPHA	1	567	3689	176943
HP:0000218	HP:0002705	High, narrow palate	1	FGFR2 CL E G H	2263	93259				ORPHA	1	567	3689	176943
HP:0000218	HP:0002705	High, narrow palate	1	FGFR2 CL E G H	2263	101600	Pfeiffer syndrome	101600	C1863356	OMIM	1	567	3689	176943
HP:0000218	HP:0002705	High, narrow palate	1	FGFR3 CL E G H	2261	602849	Muenke syndrome	602849	C1864436	OMIM	1	746	3690	134934
HP:0000218	HP:0002705	High, narrow palate	1	FH CL E G H	2271	606812	Fumarase deficiency	606812	C0342770	OMIM	1	1594	3700	136850
HP:0000218	HP:0002705	High, narrow palate	1	FLCN CL E G H	201163	610883	Chromosome 17, trisomy 17p11 2	610883	C2931246	OMIM	1	1833	27310	607273
HP:0000218	HP:0002705	High, narrow palate	1	FLNA CL E G H	2316	1826	Dexamethasone sensitive hypertension			ORPHA	1	2538	3754	300017
HP:0000218	HP:0002705	High, narrow palate	1	FLNA CL E G H	2316	305620	Frontometaphyseal dysplasia	305620	C0265293	OMIM	1	2538	3754	300017
HP:0000218	HP:0002705	High, narrow palate	1	FOXL2 CL E G H	668	110100	Blepharophimosis, ptosis, and epicanthus inversus	110100	C0220663	OMIM	1	186	1092	605597
HP:0000218	HP:0002705	High, narrow palate	1	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	218	24861	611045
HP:0000218	HP:0002705	High, narrow palate	1	GATA4 CL E G H	2626	251071				ORPHA	1	630	4173	600576
HP:0000218	HP:0002705	High, narrow palate	1	GBA CL E G H	2629	85212				ORPHA	1		4177	606463
HP:0000218	HP:0002705	High, narrow palate	1	GFPT1 CL E G H	2673	353327				ORPHA	1	453	4241	138292
HP:0000218	HP:0002705	High, narrow palate	1	GFPT1 CL E G H	2673	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	453	4241	138292
HP:0000218	HP:0002705	High, narrow palate	1	GMPPB CL E G H	29925	353327				ORPHA	1	273	22932	615320
HP:0000218	HP:0002705	High, narrow palate	1	GNE CL E G H	10020	269921	Sialuria	269921	C0342853	OMIM	1	783	23657	603824
HP:0000218	HP:0002705	High, narrow palate	1	GNPAT CL E G H	8443	222765	Rhizomelic chondrodysplasia punctata type 2	222765	C1857242	OMIM	1	261	4416	602744
HP:0000218	HP:0002705	High, narrow palate	1	GSC CL E G H	145258	602471	Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities	602471	C1865361	OMIM	1	64	4612	138890
HP:0000218	HP:0002705	High, narrow palate	1	HACD1 CL E G H	9200	2020				ORPHA	1	109	9639	610467
HP:0000218	HP:0002705	High, narrow palate	1	HBA1 CL E G H	3039	98791				ORPHA	1	379	4823	141800
HP:0000218	HP:0002705	High, narrow palate	1	HBA2 CL E G H	3040	98791				ORPHA	1	333	4824	141850
HP:0000218	HP:0002705	High, narrow palate	1	HDAC8 CL E G H	55869	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	322	13315	300269
HP:0000218	HP:0002705	High, narrow palate	1	HERC1 CL E G H	8925	617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	617011	C4310766	OMIM	1	618	4867	605109
HP:0000218	HP:0002705	High, narrow palate	1	HNRNPH2 CL E G H	3188	300986	Mental retardation, X-linked, syndromic, Bain type	300986	C4310814	OMIM	1	186	5042	300610
HP:0000218	HP:0002705	High, narrow palate	1	HNRNPK CL E G H	3190	616580	AU-KLINE SYNDROME	616580	C4225274	OMIM	1	129	5044	600712
HP:0000218	HP:0002705	High, narrow palate	1	HPGD CL E G H	3248	259100	Pachydermoperiostosis syndrome	259100	C0029411	OMIM	1	196	5154	601688
HP:0000218	HP:0002705	High, narrow palate	1	HRAS CL E G H	3265	218040	Costello syndrome	218040	C0587248	OMIM	1	547	5173	190020
HP:0000218	HP:0002705	High, narrow palate	1	HSD17B4 CL E G H	3295	261515	Bifunctional peroxisomal enzyme deficiency	261515	C0342870	OMIM	1	786	5213	601860
HP:0000218	HP:0002705	High, narrow palate	1	HSD17B4 CL E G H	3295	233400	Perrault syndrome 1	233400		OMIM	1	786	5213	601860
HP:0000218	HP:0002705	High, narrow palate	1	HSPA9 CL E G H	3313	616854	Even-plus syndrome	616854	C4225180	OMIM	1	50	5244	600548
HP:0000218	HP:0002705	High, narrow palate	1	HSPG2 CL E G H	3339	800				ORPHA	1	1830	5273	142461
HP:0000218	HP:0002705	High, narrow palate	1	HYMAI CL E G H	57061	96191				ORPHA	1	17	5326	606546
HP:0000218	HP:0002705	High, narrow palate	1	HYOU1 CL E G H	10525	233600	Granulocytopenia with immunoglobulin abnormality	233600	C1856263	OMIM	1	298	16931	601746
HP:0000218	HP:0002705	High, narrow palate	1	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	178	27302	615316
HP:0000218	HP:0002705	High, narrow palate	1	IER3IP1 CL E G H	51124	614231	Microcephaly, epilepsy, and diabetes syndrome	614231	C3280240	OMIM	1	127	18550	609382
HP:0000218	HP:0002705	High, narrow palate	1	IFT122 CL E G H	55764	218330	Cranioectodermal dysplasia 1	218330	C0432235	OMIM	1	462	13556	606045
HP:0000218	HP:0002705	High, narrow palate	1	IFT140 CL E G H	9742	266920	Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia	266920	C1849437	OMIM	1	1284	29077	614620
HP:0000218	HP:0002705	High, narrow palate	1	IGBP1 CL E G H	3476	52055				ORPHA	1	151	5461	300139
HP:0000218	HP:0002705	High, narrow palate	1	IGBP1 CL E G H	3476	300472	Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia	300472	C1845446	OMIM	1	151	5461	300139
HP:0000218	HP:0002705	High, narrow palate	1	IGF1R CL E G H	3480	270450	Insulin-like growth factor 1 resistance to	270450	C1849157	OMIM	1	713	5465	147370
HP:0000218	HP:0002705	High, narrow palate	1	INSR CL E G H	3643	262190	Pineal hyperplasia AND diabetes mellitus syndrome	262190	C0271695	OMIM	1	553	6091	147670
HP:0000218	HP:0002705	High, narrow palate	1	IRX5 CL E G H	10265	611174	Hamamy syndrome	611174	C1970027	OMIM	1	53	14361	606195
HP:0000218	HP:0002705	High, narrow palate	1	ITGA7 CL E G H	3679	2020				ORPHA	1	718	6143	600536
HP:0000218	HP:0002705	High, narrow palate	1	KANSL1 CL E G H	284058	610443	Koolen-de Vries syndrome	610443	C1864871	OMIM	1	1218	24565	612452
HP:0000218	HP:0002705	High, narrow palate	1	KAT6B CL E G H	23522	648				ORPHA	1	605	17582	605880
HP:0000218	HP:0002705	High, narrow palate	1	KCNH1 CL E G H	3756	135500	Zimmermann-Laband syndrome 1	135500	CN032818	OMIM	1	413	6250	603305
HP:0000218	HP:0002705	High, narrow palate	1	KCNJ2 CL E G H	3759	170390	Andersen Tawil syndrome	170390	C1563715	OMIM	1	500	6263	600681
HP:0000218	HP:0002705	High, narrow palate	1	KCNJ6 CL E G H	3763	435628				ORPHA	1	122	6267	600877
HP:0000218	HP:0002705	High, narrow palate	1	KCNK9 CL E G H	51305	612292	Birk Barel mental retardation dysmorphism syndrome	612292	C2676770	OMIM	1	90	6283	605874
HP:0000218	HP:0002705	High, narrow palate	1	KDM6A CL E G H	7403	2322				ORPHA	1	678	12637	300128
HP:0000218	HP:0002705	High, narrow palate	1	KDM6A CL E G H	7403	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	678	12637	300128
HP:0000218	HP:0002705	High, narrow palate	1	KIAA0753 CL E G H	9851	2754				ORPHA	1	217	29110	617112
HP:0000218	HP:0002705	High, narrow palate	1	KIF7 CL E G H	374654	2754				ORPHA	1	977	30497	611254
HP:0000218	HP:0002705	High, narrow palate	1	KLHL41 CL E G H	10324	171436				ORPHA	1	220	16905	607701
HP:0000218	HP:0002705	High, narrow palate	1	KLHL7 CL E G H	55975	617055	Cold-induced sweating syndrome 3	617055	C4310742	OMIM	1	258	15646	611119
HP:0000218	HP:0002705	High, narrow palate	1	KMT2A CL E G H	4297	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	1317	7132	159555
HP:0000218	HP:0002705	High, narrow palate	1	KMT2A CL E G H	4297	605130	Wiedemann-Steiner syndrome	605130	C1854630	OMIM	1	1317	7132	159555
HP:0000218	HP:0002705	High, narrow palate	1	KMT2D CL E G H	8085	2322				ORPHA	1	2939	7133	602113
HP:0000218	HP:0002705	High, narrow palate	1	KMT2D CL E G H	8085	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	2939	7133	602113
HP:0000218	HP:0002705	High, narrow palate	1	KRAS CL E G H	3845	648				ORPHA	1	440	6407	190070
HP:0000218	HP:0002705	High, narrow palate	1	KRAS CL E G H	3845	615278	Cardiofaciocutaneous syndrome 2	615278	C3809005	OMIM	1	440	6407	190070
HP:0000218	HP:0002705	High, narrow palate	1	KRAS CL E G H	3845	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	440	6407	190070
HP:0000218	HP:0002705	High, narrow palate	1	LGI4 CL E G H	163175	617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	617468	C4479539	OMIM	1	79	18712	608303
HP:0000218	HP:0002705	High, narrow palate	1	LMBRD1 CL E G H	55788	277380	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE	277380	C1848578	OMIM	1	216	23038	612625
HP:0000218	HP:0002705	High, narrow palate	1	LMNA CL E G H	4000	248370	Mandibuloacral dysostosis	248370	C0432291	OMIM	1	1622	6636	150330
HP:0000218	HP:0002705	High, narrow palate	1	LMOD3 CL E G H	56203	171436				ORPHA	1	326	6649	616112
HP:0000218	HP:0002705	High, narrow palate	1	LRP4 CL E G H	4038	98913				ORPHA	1	790	6696	604270
HP:0000218	HP:0002705	High, narrow palate	1	LRRC8A CL E G H	56262	613506	Agammaglobulinemia 5, autosomal dominant	613506	C3150753	OMIM	1	227	19027	608360
HP:0000218	HP:0002705	High, narrow palate	1	LZTR1 CL E G H	8216	648				ORPHA	1	2408	6742	600574
HP:0000218	HP:0002705	High, narrow palate	1	MAP2K1 CL E G H	5604	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	398	6840	176872
HP:0000218	HP:0002705	High, narrow palate	1	MAP2K1 CL E G H	5604	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	398	6840	176872
HP:0000218	HP:0002705	High, narrow palate	1	MAP2K2 CL E G H	5605	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	599	6842	601263
HP:0000218	HP:0002705	High, narrow palate	1	MAP3K20 CL E G H	51776	2020				ORPHA	1	243	17797	609479
HP:0000218	HP:0002705	High, narrow palate	1	MAP3K7 CL E G H	6885	1826	Dexamethasone sensitive hypertension			ORPHA	1	161	6859	602614
HP:0000218	HP:0002705	High, narrow palate	1	MECP2 CL E G H	4204	300055	Mental retardation, X-linked, syndromic 13	300055	C1968550	OMIM	1	1778	6990	300005
HP:0000218	HP:0002705	High, narrow palate	1	MED12 CL E G H	9968	776				ORPHA	1	1236	11957	300188
HP:0000218	HP:0002705	High, narrow palate	1	MED12 CL E G H	9968	309520	X-linked mental retardation with marfanoid habitus syndrome	309520	C0796022	OMIM	1	1236	11957	300188
HP:0000218	HP:0002705	High, narrow palate	1	MEGF10 CL E G H	84466	614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	614399	C3280679	OMIM	1	794	29634	612453
HP:0000218	HP:0002705	High, narrow palate	1	MEGF8 CL E G H	1954	614976	Carpenter syndrome 2	614976	C3554247	OMIM	1	486	3233	604267
HP:0000218	HP:0002705	High, narrow palate	1	MID1 CL E G H	4281	300000	Opitz-Frias syndrome	300000	C0175696	OMIM	1	355	7095	300552
HP:0000218	HP:0002705	High, narrow palate	1	MOGS CL E G H	7841	606056	Congenital disorder of glycosylation type 2B	606056	C1853736	OMIM	1	346	24862	601336
HP:0000218	HP:0002705	High, narrow palate	1	MSTO1 CL E G H	55154	502423				ORPHA	1	85	29678	617619
HP:0000218	HP:0002705	High, narrow palate	1	MTM1 CL E G H	4534	310400	Severe X-linked myotubular myopathy	310400	C0410203	OMIM	1	720	7448	300415
HP:0000218	HP:0002705	High, narrow palate	1	MUSK CL E G H	4593	98913				ORPHA	1	496	7525	601296
HP:0000218	HP:0002705	High, narrow palate	1	MUSK CL E G H	4593	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	496	7525	601296
HP:0000218	HP:0002705	High, narrow palate	1	MYCN CL E G H	4613	164280	Feingold syndrome 1	164280	C0796068	OMIM	1	146	7559	164840
HP:0000218	HP:0002705	High, narrow palate	1	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	1	914	7572	160740
HP:0000218	HP:0002705	High, narrow palate	1	MYH3 CL E G H	4621	1147				ORPHA	1	641	7573	160720
HP:0000218	HP:0002705	High, narrow palate	1	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000218	HP:0002705	High, narrow palate	1	MYH3 CL E G H	4621	193700	Freeman-Sheldon syndrome	193700	C0265224	OMIM	1	641	7573	160720
HP:0000218	HP:0002705	High, narrow palate	1	MYH7 CL E G H	4625	324604				ORPHA	1	3612	7577	160760
HP:0000218	HP:0002705	High, narrow palate	1	MYH7 CL E G H	4625	59135				ORPHA	1	3612	7577	160760
HP:0000218	HP:0002705	High, narrow palate	1	MYH7 CL E G H	4625	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	3612	7577	160760
HP:0000218	HP:0002705	High, narrow palate	1	MYH7 CL E G H	4625	160500	Myopathy, distal, 1	160500	CN074249	OMIM	1	3612	7577	160760
HP:0000218	HP:0002705	High, narrow palate	1	MYL2 CL E G H	4633	2020				ORPHA	1	445	7583	160781
HP:0000218	HP:0002705	High, narrow palate	1	MYMK CL E G H	389827	1358				ORPHA	1	75	33778	615345
HP:0000218	HP:0002705	High, narrow palate	1	MYO18B CL E G H	84700	616549	Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism	616549	C4225285	OMIM	1	1162	18150	607295
HP:0000218	HP:0002705	High, narrow palate	1	MYPN CL E G H	84665	171881				ORPHA	1	1263	23246	608517
HP:0000218	HP:0002705	High, narrow palate	1	MYPN CL E G H	84665	617336	Nemaline myopathy 11, autosomal recessive	617336	C4479186	OMIM	1	1263	23246	608517
HP:0000218	HP:0002705	High, narrow palate	1	NAA10 CL E G H	8260	300855	N-terminal acetyltransferase deficiency	300855	C3275447	OMIM	1	361	18704	300013
HP:0000218	HP:0002705	High, narrow palate	1	NALCN CL E G H	259232	1147				ORPHA	1	653	19082	611549
HP:0000218	HP:0002705	High, narrow palate	1	NEB CL E G H	4703	171436				ORPHA	1	6444	7720	161650
HP:0000218	HP:0002705	High, narrow palate	1	NEB CL E G H	4703	399103				ORPHA	1	6444	7720	161650
HP:0000218	HP:0002705	High, narrow palate	1	NEB CL E G H	4703	256030	Nemaline myopathy 2	256030	C1850569	OMIM	1	6444	7720	161650
HP:0000218	HP:0002705	High, narrow palate	1	NEK1 CL E G H	4750	2751	Hunter Carpenter Macdonald syndrome			ORPHA	1	525	7744	604588
HP:0000218	HP:0002705	High, narrow palate	1	NEK9 CL E G H	91754	617022	Lethal congenital contracture syndrome 10	617022	C4310760	OMIM	1	82	18591	609798
HP:0000218	HP:0002705	High, narrow palate	1	NIPBL CL E G H	25836	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	1201	28862	608667
HP:0000218	HP:0002705	High, narrow palate	1	NIPBL CL E G H	25836	122470	Cornelia de Lange syndrome 1	122470	CN029798	OMIM	1	1201	28862	608667
HP:0000218	HP:0002705	High, narrow palate	1	NOTCH2 CL E G H	4853	102500	Hajdu-Cheney syndrome	102500	C0917715	OMIM	1	750	7882	600275
HP:0000218	HP:0002705	High, narrow palate	1	NOTCH3 CL E G H	4854	130720	Lehman syndrome	130720	C1851710	OMIM	1	1133	7883	600276
HP:0000218	HP:0002705	High, narrow palate	1	NRAS CL E G H	4893	648				ORPHA	1	250	7989	164790
HP:0000218	HP:0002705	High, narrow palate	1	NSD1 CL E G H	64324	821				ORPHA	1	1390	14234	606681
HP:0000218	HP:0002705	High, narrow palate	1	NSDHL CL E G H	50814	300831	NSDHL-Related Disorders	300831	C3151781	OMIM	1	312	13398	300275
HP:0000218	HP:0002705	High, narrow palate	1	NUP107 CL E G H	57122	616730	Nephrotic syndrome, type 11	616730	C4225228	OMIM	1	149	29914	607617
HP:0000218	HP:0002705	High, narrow palate	1	OBSL1 CL E G H	23363	612921	Three M syndrome 2	612921	C2752041	OMIM	1	709	29092	610991
HP:0000218	HP:0002705	High, narrow palate	1	OCLN CL E G H	100506658	251290	Band-like calcification with simplified gyration and polymicrogyria	251290	C3489725	OMIM	1	103	8104	602876
HP:0000218	HP:0002705	High, narrow palate	1	OFD1 CL E G H	8481	2754				ORPHA	1	789	2567	300170
HP:0000218	HP:0002705	High, narrow palate	1	OFD1 CL E G H	8481	2750				ORPHA	1	789	2567	300170
HP:0000218	HP:0002705	High, narrow palate	1	OFD1 CL E G H	8481	311200	Oral-facial-digital syndrome	311200	C1510460	OMIM	1	789	2567	300170
HP:0000218	HP:0002705	High, narrow palate	1	OFD1 CL E G H	8481	300209	Simpson-Golabi-Behmel syndrome, type 2	300209	C1846175	OMIM	1	789	2567	300170
HP:0000218	HP:0002705	High, narrow palate	1	ORC1 CL E G H	4998	224690	Meier-Gorlin syndrome 1	224690	CN030358	OMIM	1	214	8487	601902
HP:0000218	HP:0002705	High, narrow palate	1	OSGEP CL E G H	55644	617729	GALLOWAY-MOWAT SYNDROME 3	617729	C4540266	OMIM	1	106	18028	610107
HP:0000218	HP:0002705	High, narrow palate	1	OTUD6B CL E G H	51633	505237				ORPHA	1	70	24281	612021
HP:0000218	HP:0002705	High, narrow palate	1	OTUD6B CL E G H	51633	617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	617452	C4479520	OMIM	1	70	24281	612021
HP:0000218	HP:0002705	High, narrow palate	1	PAK3 CL E G H	5063	300558	Mental retardation 30, X-linked	300558	C0796237	OMIM	1	292	8592	300142
HP:0000218	HP:0002705	High, narrow palate	1	PAX1 CL E G H	5075	2792	Hyperbilirubinemia type 1			ORPHA	1	208	8615	167411
HP:0000218	HP:0002705	High, narrow palate	1	PDE6D CL E G H	5147	2754				ORPHA	1	71	8788	602676
HP:0000218	HP:0002705	High, narrow palate	1	PDHX CL E G H	8050	245349	Pyruvate dehydrogenase E3-binding protein deficiency	245349	C1855553	OMIM	1	282	21350	608769
HP:0000218	HP:0002705	High, narrow palate	1	PEX1 CL E G H	5189	912				ORPHA	1	1205	8850	602136
HP:0000218	HP:0002705	High, narrow palate	1	PEX1 CL E G H	5189	214100	Zellweger syndrome	214100	C0043459	OMIM	1	1205	8850	602136
HP:0000218	HP:0002705	High, narrow palate	1	PEX10 CL E G H	5192	912				ORPHA	1	654	8851	602859
HP:0000218	HP:0002705	High, narrow palate	1	PEX11B CL E G H	8799	912				ORPHA	1	350	8853	603867
HP:0000218	HP:0002705	High, narrow palate	1	PEX12 CL E G H	5193	912				ORPHA	1	360	8854	601758
HP:0000218	HP:0002705	High, narrow palate	1	PEX13 CL E G H	5194	912				ORPHA	1	397	8855	601789
HP:0000218	HP:0002705	High, narrow palate	1	PEX14 CL E G H	5195	912				ORPHA	1	374	8856	601791
HP:0000218	HP:0002705	High, narrow palate	1	PEX16 CL E G H	9409	912				ORPHA	1	346	8857	603360
HP:0000218	HP:0002705	High, narrow palate	1	PEX19 CL E G H	5824	912				ORPHA	1	304	9713	600279
HP:0000218	HP:0002705	High, narrow palate	1	PEX2 CL E G H	5828	912				ORPHA	1	366	9717	170993
HP:0000218	HP:0002705	High, narrow palate	1	PEX26 CL E G H	55670	912				ORPHA	1	431	22965	608666
HP:0000218	HP:0002705	High, narrow palate	1	PEX26 CL E G H	55670	614872	Peroxisome biogenesis disorder 7A	614872	C3539168	OMIM	1	431	22965	608666
HP:0000218	HP:0002705	High, narrow palate	1	PEX3 CL E G H	8504	912				ORPHA	1	271	8858	603164
HP:0000218	HP:0002705	High, narrow palate	1	PEX3 CL E G H	8504	614882	Peroxisome biogenesis disorder 10A	614882	C3553999	OMIM	1	271	8858	603164
HP:0000218	HP:0002705	High, narrow palate	1	PEX5 CL E G H	5830	912				ORPHA	1	689	9719	600414
HP:0000218	HP:0002705	High, narrow palate	1	PEX5 CL E G H	5830	202370	Neonatal adrenoleucodystrophy	202370	C0282525	OMIM	1	689	9719	600414
HP:0000218	HP:0002705	High, narrow palate	1	PEX6 CL E G H	5190	912				ORPHA	1	1085	8859	601498
HP:0000218	HP:0002705	High, narrow palate	1	PGM3 CL E G H	5238	615816	Immunodeficiency 23	615816	C4014371	OMIM	1	265	8907	172100
HP:0000218	HP:0002705	High, narrow palate	1	PHIP CL E G H	55023	617991	DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES	617991	CN248510	OMIM	1	249	15673	612870
HP:0000218	HP:0002705	High, narrow palate	1	PIEZO2 CL E G H	63895	376				ORPHA	1	755	26270	613629
HP:0000218	HP:0002705	High, narrow palate	1	PIEZO2 CL E G H	63895	617146	Arthrogryposis, distal, with impaired proprioception and touch	617146	C4310692	OMIM	1	755	26270	613629
HP:0000218	HP:0002705	High, narrow palate	1	PIEZO2 CL E G H	63895	114300	Gordon's syndrome	114300