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:0100736	HP:0100736	Abnormal soft palate morphology	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG		37
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id		37
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome		34
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		2
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate		6
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs		4
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome		5
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome		43
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome		17
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome		7
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy		99
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate		38
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome		9
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome		31
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate		1003
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly		200
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly		200
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		200
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly		200
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome		50
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	515
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome		215
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	COL11A1 CL E G H	1301	2186	OMIM:604841	Stickler syndrome, type II		215
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia		222
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita		284
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type		284
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I		284
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome		193
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS		92
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome		108
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102		57
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5		2
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V		2
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis		72
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly		22
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly		22
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		22
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly		22
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	DLG3 CL E G H	1741	2902	OMIM:300850	MENTAL RETARDATION, X-LINKED 90; MRX90		30
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14		1
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly		3
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly		3
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		3
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly		3
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate		1
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome		6
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3		6
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities		7
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome		17
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly		17
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly		17
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		17
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly		17
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly		172
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly		172
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome		175
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome		175
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome		145
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2		13
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome		157
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome		184
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly		48
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly		48
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		48
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly		48
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly		2
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly		2
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		2
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly		2
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly		173
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly		173
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		173
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly		173
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome		3
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome		2
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	GRHL3 CL E G H	57822	25839	ORPHA:99771	Bifid uvula		12
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum		12
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1		2
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion		8
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation		8
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX		28
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus		31
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate		99
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip		99
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome		99
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	IRF6 CL E G H	3664	6121	OMIM:119300	van der Woude syndrome 1		99
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type		141
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome		13
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME		4
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome		7
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12		9
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus		167
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	KMT2C CL E G H	58508	13726	OMIM:617768	Kleefstra syndrome 2		99
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome		136
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2		11
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14		1
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	METTL23 CL E G H	124512	26988	OMIM:615942	Mental retardation, autosomal recessive 44		13
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate		12
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip		12
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	MSX2 CL E G H	4488	7392	OMIM:604757	Craniosynostosis 2		45
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate		4
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip		4
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2		101
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly		45
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly		45
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		45
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly		45
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2		2
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome		53
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome		21
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome		39
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate		337
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		8
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		20
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis		11
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3		77
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome		77
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		36
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		84
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		57
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		6
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		2
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome		82
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome		180
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome		33
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome		18
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome		213
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome		221
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly		665
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly		665
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		665
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly		665
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism		6
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome		7
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III		15
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6		40
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD		2
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis		1
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy		1200
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant		34
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia		2
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	16
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1	HP:0040283 - Occasional	64
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency		43
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly		67
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3		67
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly		67
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		67
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly		67
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly		32
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly		32
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		32
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly		32
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly		36
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome		260
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome		504
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly		135
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome		174
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type		19
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome		6
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation		37
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy		20
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy		14
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly		1
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly		1
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly		99
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly		99
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		99
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly		99
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome		52
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	TBX22 CL E G H	50945	11600	OMIM:303400	Cleft palate, X-linked		28
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome		140
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly		1
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly		1
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		1
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly		1
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome		239
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome		253
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly		32
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly		32
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		32
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly		32
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome		1
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome		1
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3		33
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate		140
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip		140
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	TP63 CL E G H	8626	15979	OMIM:603543	Limb-Mammary syndrome		140
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome		140
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy		7128
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	TUBB6 CL E G H	84617	20776	OMIM:617732	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome		19
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	UBB CL E G H	7314	12463	ORPHA:99771	Bifid uvula
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly		136
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2		14
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly		34
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly		34
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		34
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly		34
HP:0100736	HP:0100736	Abnormal soft palate morphology	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0100736	HP:0430014	Abnormality of musculature of soft palate	1	CL E G H
HP:0100736	HP:0031046	Absent soft palate	1	CL E G H
HP:0100736	HP:0000185	Cleft soft palate	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0100736	HP:0000172	Abnormal uvula morphology	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0100736	HP:0000172	Abnormal uvula morphology	1	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040284 - Very rare	37
HP:0100736	HP:0000185	Cleft soft palate	1	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id		37
HP:0100736	HP:0000172	Abnormal uvula morphology	1	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id		37
HP:0100736	HP:0000185	Cleft soft palate	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0100736	HP:0000172	Abnormal uvula morphology	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0100736	HP:0000172	Abnormal uvula morphology	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0100736	HP:0000185	Cleft soft palate	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0100736	HP:0000185	Cleft soft palate	1	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome		34
HP:0100736	HP:0000172	Abnormal uvula morphology	1	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome		34
HP:0100736	HP:0000172	Abnormal uvula morphology	1	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		2
HP:0100736	HP:0000185	Cleft soft palate	1	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		2
HP:0100736	HP:0000220	Velopharyngeal insufficiency	1	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	6
HP:0100736	HP:0000185	Cleft soft palate	1	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs		4
HP:0100736	HP:0000172	Abnormal uvula morphology	1	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs		4
HP:0100736	HP:0000185	Cleft soft palate	1	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome		5
HP:0100736	HP:0000172	Abnormal uvula morphology	1	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome		5
HP:0100736	HP:0000185	Cleft soft palate	1	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome		43
HP:0100736	HP:0000172	Abnormal uvula morphology	1	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome		43
HP:0100736	HP:0000172	Abnormal uvula morphology	1	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0100736	HP:0000185	Cleft soft palate	1	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0100736	HP:0000185	Cleft soft palate	1	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome		17
HP:0100736	HP:0000172	Abnormal uvula morphology	1	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome		17
HP:0100736	HP:0000172	Abnormal uvula morphology	1	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0100736	HP:0000185	Cleft soft palate	1	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0100736	HP:0000185	Cleft soft palate	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0100736	HP:0000172	Abnormal uvula morphology	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0100736	HP:0000185	Cleft soft palate	1	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome		7
HP:0100736	HP:0000172	Abnormal uvula morphology	1	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome		7
HP:0100736	HP:0000220	Velopharyngeal insufficiency	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0100736	HP:0000172	Abnormal uvula morphology	1	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy		99
HP:0100736	HP:0000185	Cleft soft palate	1	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy		99
HP:0100736	HP:0000220	Velopharyngeal insufficiency	1	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	38
HP:0100736	HP:0000172	Abnormal uvula morphology	1	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0100736	HP:0000185	Cleft soft palate	1	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0100736	HP:0000172	Abnormal uvula morphology	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0100736	HP:0000172	Abnormal uvula morphology	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0100736	HP:0000172	Abnormal uvula morphology	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0100736	HP:0000172	Abnormal uvula morphology	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome		9
HP:0100736	HP:0000185	Cleft soft palate	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome		9
HP:0100736	HP:0000185	Cleft soft palate	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome		31
HP:0100736	HP:0000172	Abnormal uvula morphology	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome		31
HP:0100736	HP:0000220	Velopharyngeal insufficiency	1	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	1003
HP:0100736	HP:0000172	Abnormal uvula morphology	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0100736	HP:0000185	Cleft soft palate	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0100736	HP:0000185	Cleft soft palate	1	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0100736	HP:0000172	Abnormal uvula morphology	1	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0100736	HP:0000172	Abnormal uvula morphology	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly		200
HP:0100736	HP:0000185	Cleft soft palate	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly		200
HP:0100736	HP:0000172	Abnormal uvula morphology	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly		200
HP:0100736	HP:0000185	Cleft soft palate	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly		200
HP:0100736	HP:0000185	Cleft soft palate	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		200
HP:0100736	HP:0000172	Abnormal uvula morphology	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		200
HP:0100736	HP:0000172	Abnormal uvula morphology	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly		200
HP:0100736	HP:0000185	Cleft soft palate	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly		200
HP:0100736	HP:0000172	Abnormal uvula morphology	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome		50
HP:0100736	HP:0000185	Cleft soft palate	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome		50
HP:0100736	HP:0000172	Abnormal uvula morphology	1	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0100736	HP:0000185	Cleft soft palate	1	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0100736	HP:0000172	Abnormal uvula morphology	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome		215
HP:0100736	HP:0000185	Cleft soft palate	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome		215
HP:0100736	HP:0000185	Cleft soft palate	1	COL11A1 CL E G H	1301	2186	OMIM:604841	Stickler syndrome, type II		215
HP:0100736	HP:0000172	Abnormal uvula morphology	1	COL11A1 CL E G H	1301	2186	OMIM:604841	Stickler syndrome, type II		215
HP:0100736	HP:0000172	Abnormal uvula morphology	1	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia		222
HP:0100736	HP:0000185	Cleft soft palate	1	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia		222
HP:0100736	HP:0000172	Abnormal uvula morphology	1	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita		284
HP:0100736	HP:0000185	Cleft soft palate	1	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita		284
HP:0100736	HP:0000185	Cleft soft palate	1	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040283 - Occasional	284
HP:0100736	HP:0000185	Cleft soft palate	1	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I		284
HP:0100736	HP:0000172	Abnormal uvula morphology	1	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I		284
HP:0100736	HP:0000185	Cleft soft palate	1	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome		193
HP:0100736	HP:0000172	Abnormal uvula morphology	1	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome		193
HP:0100736	HP:0000185	Cleft soft palate	1	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0100736	HP:0000172	Abnormal uvula morphology	1	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0100736	HP:0000172	Abnormal uvula morphology	1	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS		92
HP:0100736	HP:0000185	Cleft soft palate	1	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS		92
HP:0100736	HP:0000172	Abnormal uvula morphology	1	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome		108
HP:0100736	HP:0000185	Cleft soft palate	1	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome		108
HP:0100736	HP:0000185	Cleft soft palate	1	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102		57
HP:0100736	HP:0000172	Abnormal uvula morphology	1	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102		57
HP:0100736	HP:0000172	Abnormal uvula morphology	1	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5		2
HP:0100736	HP:0000185	Cleft soft palate	1	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5	HP:0040283 - Occasional	2
HP:0100736	HP:0000185	Cleft soft palate	1	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V		2
HP:0100736	HP:0000172	Abnormal uvula morphology	1	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V		2
HP:0100736	HP:0000220	Velopharyngeal insufficiency	1	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0100736	HP:0000220	Velopharyngeal insufficiency	1	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0100736	HP:0000220	Velopharyngeal insufficiency	1	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0100736	HP:0000172	Abnormal uvula morphology	1	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis		72
HP:0100736	HP:0000185	Cleft soft palate	1	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis		72
HP:0100736	HP:0000185	Cleft soft palate	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0100736	HP:0000172	Abnormal uvula morphology	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0100736	HP:0000172	Abnormal uvula morphology	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly		22
HP:0100736	HP:0000185	Cleft soft palate	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly		22
HP:0100736	HP:0000185	Cleft soft palate	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly		22
HP:0100736	HP:0000172	Abnormal uvula morphology	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly		22
HP:0100736	HP:0000185	Cleft soft palate	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		22
HP:0100736	HP:0000172	Abnormal uvula morphology	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		22
HP:0100736	HP:0000185	Cleft soft palate	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly		22
HP:0100736	HP:0000172	Abnormal uvula morphology	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly		22
HP:0100736	HP:0000220	Velopharyngeal insufficiency	1	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent
HP:0100736	HP:0000185	Cleft soft palate	1	DLG3 CL E G H	1741	2902	OMIM:300850	MENTAL RETARDATION, X-LINKED 90; MRX90		30
HP:0100736	HP:0000172	Abnormal uvula morphology	1	DLG3 CL E G H	1741	2902	OMIM:300850	MENTAL RETARDATION, X-LINKED 90; MRX90		30
HP:0100736	HP:0000185	Cleft soft palate	1	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14		1
HP:0100736	HP:0000172	Abnormal uvula morphology	1	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14		1
HP:0100736	HP:0000172	Abnormal uvula morphology	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly		3
HP:0100736	HP:0000185	Cleft soft palate	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly		3
HP:0100736	HP:0000185	Cleft soft palate	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly		3
HP:0100736	HP:0000172	Abnormal uvula morphology	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly		3
HP:0100736	HP:0000185	Cleft soft palate	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		3
HP:0100736	HP:0000172	Abnormal uvula morphology	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		3
HP:0100736	HP:0000172	Abnormal uvula morphology	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly		3
HP:0100736	HP:0000185	Cleft soft palate	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly		3
HP:0100736	HP:0000220	Velopharyngeal insufficiency	1	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	1
HP:0100736	HP:0000185	Cleft soft palate	1	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0100736	HP:0000185	Cleft soft palate	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040284 - Very rare	134
HP:0100736	HP:0000172	Abnormal uvula morphology	1	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome		6
HP:0100736	HP:0000185	Cleft soft palate	1	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome		6
HP:0100736	HP:0000172	Abnormal uvula morphology	1	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3		6
HP:0100736	HP:0000185	Cleft soft palate	1	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3		6
HP:0100736	HP:0000172	Abnormal uvula morphology	1	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0100736	HP:0000185	Cleft soft palate	1	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0100736	HP:0000172	Abnormal uvula morphology	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0100736	HP:0000220	Velopharyngeal insufficiency	1	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0100736	HP:0000172	Abnormal uvula morphology	1	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0100736	HP:0000185	Cleft soft palate	1	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0100736	HP:0000172	Abnormal uvula morphology	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0100736	HP:0000172	Abnormal uvula morphology	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0100736	HP:0000172	Abnormal uvula morphology	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0100736	HP:0000172	Abnormal uvula morphology	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0100736	HP:0000172	Abnormal uvula morphology	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0100736	HP:0000172	Abnormal uvula morphology	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0100736	HP:0000172	Abnormal uvula morphology	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0100736	HP:0000172	Abnormal uvula morphology	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0100736	HP:0000172	Abnormal uvula morphology	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0100736	HP:0000172	Abnormal uvula morphology	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0100736	HP:0000172	Abnormal uvula morphology	1	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities		7
HP:0100736	HP:0000185	Cleft soft palate	1	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities		7
HP:0100736	HP:0000172	Abnormal uvula morphology	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome		17
HP:0100736	HP:0000185	Cleft soft palate	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome		17
HP:0100736	HP:0000172	Abnormal uvula morphology	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly		17
HP:0100736	HP:0000185	Cleft soft palate	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly		17
HP:0100736	HP:0000172	Abnormal uvula morphology	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly		17
HP:0100736	HP:0000185	Cleft soft palate	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly		17
HP:0100736	HP:0000172	Abnormal uvula morphology	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		17
HP:0100736	HP:0000185	Cleft soft palate	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		17
HP:0100736	HP:0000172	Abnormal uvula morphology	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly		17
HP:0100736	HP:0000185	Cleft soft palate	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly		17
HP:0100736	HP:0000185	Cleft soft palate	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly		172
HP:0100736	HP:0000172	Abnormal uvula morphology	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly		172
HP:0100736	HP:0000185	Cleft soft palate	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly		172
HP:0100736	HP:0000172	Abnormal uvula morphology	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly		172
HP:0100736	HP:0000185	Cleft soft palate	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0100736	HP:0000185	Cleft soft palate	1	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome		175
HP:0100736	HP:0000172	Abnormal uvula morphology	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0100736	HP:0000172	Abnormal uvula morphology	1	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome		175
HP:0100736	HP:0000185	Cleft soft palate	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome		175
HP:0100736	HP:0000172	Abnormal uvula morphology	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome		175
HP:0100736	HP:0000172	Abnormal uvula morphology	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome		145
HP:0100736	HP:0000185	Cleft soft palate	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome		145
HP:0100736	HP:0000185	Cleft soft palate	1	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	HP:0040283 - Occasional	13
HP:0100736	HP:0000172	Abnormal uvula morphology	1	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome		157
HP:0100736	HP:0000185	Cleft soft palate	1	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome		157
HP:0100736	HP:0000185	Cleft soft palate	1	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome		184
HP:0100736	HP:0000172	Abnormal uvula morphology	1	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome		184
HP:0100736	HP:0000185	Cleft soft palate	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0100736	HP:0000172	Abnormal uvula morphology	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0100736	HP:0000172	Abnormal uvula morphology	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly		48
HP:0100736	HP:0000185	Cleft soft palate	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly		48
HP:0100736	HP:0000172	Abnormal uvula morphology	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly		48
HP:0100736	HP:0000185	Cleft soft palate	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly		48
HP:0100736	HP:0000172	Abnormal uvula morphology	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		48
HP:0100736	HP:0000185	Cleft soft palate	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		48
HP:0100736	HP:0000172	Abnormal uvula morphology	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly		48
HP:0100736	HP:0000185	Cleft soft palate	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly		48
HP:0100736	HP:0000185	Cleft soft palate	1	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0100736	HP:0000172	Abnormal uvula morphology	1	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0100736	HP:0000172	Abnormal uvula morphology	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly		2
HP:0100736	HP:0000185	Cleft soft palate	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly		2
HP:0100736	HP:0000185	Cleft soft palate	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly		2
HP:0100736	HP:0000172	Abnormal uvula morphology	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly		2
HP:0100736	HP:0000185	Cleft soft palate	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		2
HP:0100736	HP:0000172	Abnormal uvula morphology	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		2
HP:0100736	HP:0000185	Cleft soft palate	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly		2
HP:0100736	HP:0000172	Abnormal uvula morphology	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly		2
HP:0100736	HP:0000185	Cleft soft palate	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	29
HP:0100736	HP:0000172	Abnormal uvula morphology	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0100736	HP:0000185	Cleft soft palate	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0100736	HP:0000172	Abnormal uvula morphology	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0100736	HP:0000185	Cleft soft palate	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0100736	HP:0000172	Abnormal uvula morphology	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly		173
HP:0100736	HP:0000185	Cleft soft palate	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly		173
HP:0100736	HP:0000185	Cleft soft palate	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly		173
HP:0100736	HP:0000172	Abnormal uvula morphology	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly		173
HP:0100736	HP:0000172	Abnormal uvula morphology	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		173
HP:0100736	HP:0000185	Cleft soft palate	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		173
HP:0100736	HP:0000172	Abnormal uvula morphology	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly		173
HP:0100736	HP:0000185	Cleft soft palate	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly		173
HP:0100736	HP:0000172	Abnormal uvula morphology	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0100736	HP:0000185	Cleft soft palate	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0100736	HP:0000185	Cleft soft palate	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome		3
HP:0100736	HP:0000172	Abnormal uvula morphology	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome		3
HP:0100736	HP:0000172	Abnormal uvula morphology	1	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome		2
HP:0100736	HP:0000185	Cleft soft palate	1	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome		2
HP:0100736	HP:0000185	Cleft soft palate	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0100736	HP:0000185	Cleft soft palate	1	GRHL3 CL E G H	57822	25839	ORPHA:99771	Bifid uvula		12
HP:0100736	HP:0000172	Abnormal uvula morphology	1	GRHL3 CL E G H	57822	25839	ORPHA:99771	Bifid uvula		12
HP:0100736	HP:0000220	Velopharyngeal insufficiency	1	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum	HP:0040282 - Frequent	12
HP:0100736	HP:0000185	Cleft soft palate	1	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum	HP:0040282 - Frequent	12
HP:0100736	HP:0000185	Cleft soft palate	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0100736	HP:0000172	Abnormal uvula morphology	1	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1		2
HP:0100736	HP:0000185	Cleft soft palate	1	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1		2
HP:0100736	HP:0000172	Abnormal uvula morphology	1	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion		8
HP:0100736	HP:0000185	Cleft soft palate	1	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion		8
HP:0100736	HP:0000185	Cleft soft palate	1	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation		8
HP:0100736	HP:0000172	Abnormal uvula morphology	1	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation		8
HP:0100736	HP:0000185	Cleft soft palate	1	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX		28
HP:0100736	HP:0000172	Abnormal uvula morphology	1	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX		28
HP:0100736	HP:0000172	Abnormal uvula morphology	1	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus		31
HP:0100736	HP:0000185	Cleft soft palate	1	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus		31
HP:0100736	HP:0000172	Abnormal uvula morphology	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0100736	HP:0000185	Cleft soft palate	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0100736	HP:0000185	Cleft soft palate	1	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0100736	HP:0000172	Abnormal uvula morphology	1	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0100736	HP:0000172	Abnormal uvula morphology	1	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome
HP:0100736	HP:0000185	Cleft soft palate	1	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome
HP:0100736	HP:0000172	Abnormal uvula morphology	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0100736	HP:0000185	Cleft soft palate	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0100736	HP:0000220	Velopharyngeal insufficiency	1	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	99
HP:0100736	HP:0000220	Velopharyngeal insufficiency	1	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	99
HP:0100736	HP:0000185	Cleft soft palate	1	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome		99
HP:0100736	HP:0000172	Abnormal uvula morphology	1	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome		99
HP:0100736	HP:0000172	Abnormal uvula morphology	1	IRF6 CL E G H	3664	6121	OMIM:119300	van der Woude syndrome 1		99
HP:0100736	HP:0000185	Cleft soft palate	1	IRF6 CL E G H	3664	6121	OMIM:119300	van der Woude syndrome 1		99
HP:0100736	HP:0000172	Abnormal uvula morphology	1	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type		141
HP:0100736	HP:0000185	Cleft soft palate	1	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type		141
HP:0100736	HP:0000185	Cleft soft palate	1	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome		13
HP:0100736	HP:0000172	Abnormal uvula morphology	1	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome		13
HP:0100736	HP:0000185	Cleft soft palate	1	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME		4
HP:0100736	HP:0000172	Abnormal uvula morphology	1	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME		4
HP:0100736	HP:0000172	Abnormal uvula morphology	1	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome		7
HP:0100736	HP:0000185	Cleft soft palate	1	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome		7
HP:0100736	HP:0000185	Cleft soft palate	1	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0100736	HP:0000172	Abnormal uvula morphology	1	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0100736	HP:0000185	Cleft soft palate	1	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12		9
HP:0100736	HP:0000172	Abnormal uvula morphology	1	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12		9
HP:0100736	HP:0000185	Cleft soft palate	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0100736	HP:0000172	Abnormal uvula morphology	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0100736	HP:0000172	Abnormal uvula morphology	1	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus		167
HP:0100736	HP:0000185	Cleft soft palate	1	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus		167
HP:0100736	HP:0000185	Cleft soft palate	1	KMT2C CL E G H	58508	13726	OMIM:617768	Kleefstra syndrome 2		99
HP:0100736	HP:0000172	Abnormal uvula morphology	1	KMT2C CL E G H	58508	13726	OMIM:617768	Kleefstra syndrome 2		99
HP:0100736	HP:0000185	Cleft soft palate	1	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome		136
HP:0100736	HP:0000172	Abnormal uvula morphology	1	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome		136
HP:0100736	HP:0000172	Abnormal uvula morphology	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0100736	HP:0000172	Abnormal uvula morphology	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0100736	HP:0000185	Cleft soft palate	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0100736	HP:0000172	Abnormal uvula morphology	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2		11
HP:0100736	HP:0000185	Cleft soft palate	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2		11
HP:0100736	HP:0000185	Cleft soft palate	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0100736	HP:0000185	Cleft soft palate	1	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14		1
HP:0100736	HP:0000172	Abnormal uvula morphology	1	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14		1
HP:0100736	HP:0000172	Abnormal uvula morphology	1	METTL23 CL E G H	124512	26988	OMIM:615942	Mental retardation, autosomal recessive 44		13
HP:0100736	HP:0000185	Cleft soft palate	1	METTL23 CL E G H	124512	26988	OMIM:615942	Mental retardation, autosomal recessive 44		13
HP:0100736	HP:0000220	Velopharyngeal insufficiency	1	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	12
HP:0100736	HP:0000220	Velopharyngeal insufficiency	1	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	12
HP:0100736	HP:0000185	Cleft soft palate	1	MSX2 CL E G H	4488	7392	OMIM:604757	Craniosynostosis 2	HP:0040283 - Occasional	45
HP:0100736	HP:0000185	Cleft soft palate	1	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0100736	HP:0000172	Abnormal uvula morphology	1	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0100736	HP:0000220	Velopharyngeal insufficiency	1	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0100736	HP:0000220	Velopharyngeal insufficiency	1	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	4
HP:0100736	HP:0000220	Velopharyngeal insufficiency	1	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	4
HP:0100736	HP:0000185	Cleft soft palate	1	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2		101
HP:0100736	HP:0000220	Velopharyngeal insufficiency	1	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040283 - Occasional	101
HP:0100736	HP:0000172	Abnormal uvula morphology	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly		45
HP:0100736	HP:0000185	Cleft soft palate	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly		45
HP:0100736	HP:0000172	Abnormal uvula morphology	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly		45
HP:0100736	HP:0000185	Cleft soft palate	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly		45
HP:0100736	HP:0000185	Cleft soft palate	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		45
HP:0100736	HP:0000172	Abnormal uvula morphology	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		45
HP:0100736	HP:0000172	Abnormal uvula morphology	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly		45
HP:0100736	HP:0000185	Cleft soft palate	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly		45
HP:0100736	HP:0000185	Cleft soft palate	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0100736	HP:0000172	Abnormal uvula morphology	1	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2		2
HP:0100736	HP:0000185	Cleft soft palate	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome		53
HP:0100736	HP:0000172	Abnormal uvula morphology	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome		53
HP:0100736	HP:0000172	Abnormal uvula morphology	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome		21
HP:0100736	HP:0000185	Cleft soft palate	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome		21
HP:0100736	HP:0000172	Abnormal uvula morphology	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome		39
HP:0100736	HP:0000185	Cleft soft palate	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome		39
HP:0100736	HP:0000172	Abnormal uvula morphology	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0100736	HP:0000220	Velopharyngeal insufficiency	1	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	337
HP:0100736	HP:0000185	Cleft soft palate	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0100736	HP:0000172	Abnormal uvula morphology	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0100736	HP:0000185	Cleft soft palate	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		8
HP:0100736	HP:0000172	Abnormal uvula morphology	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		8
HP:0100736	HP:0000172	Abnormal uvula morphology	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		20
HP:0100736	HP:0000185	Cleft soft palate	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		20
HP:0100736	HP:0000172	Abnormal uvula morphology	1	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0100736	HP:0000185	Cleft soft palate	1	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0100736	HP:0000172	Abnormal uvula morphology	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0100736	HP:0000172	Abnormal uvula morphology	1	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis		11
HP:0100736	HP:0000185	Cleft soft palate	1	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3		77
HP:0100736	HP:0000172	Abnormal uvula morphology	1	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3		77
HP:0100736	HP:0000185	Cleft soft palate	1	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome		77
HP:0100736	HP:0000172	Abnormal uvula morphology	1	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome		77
HP:0100736	HP:0000172	Abnormal uvula morphology	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		36
HP:0100736	HP:0000185	Cleft soft palate	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		36
HP:0100736	HP:0000185	Cleft soft palate	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		84
HP:0100736	HP:0000172	Abnormal uvula morphology	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		84
HP:0100736	HP:0000172	Abnormal uvula morphology	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		57
HP:0100736	HP:0000185	Cleft soft palate	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		57
HP:0100736	HP:0000172	Abnormal uvula morphology	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		6
HP:0100736	HP:0000185	Cleft soft palate	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		6
HP:0100736	HP:0000185	Cleft soft palate	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		2
HP:0100736	HP:0000172	Abnormal uvula morphology	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		2
HP:0100736	HP:0000185	Cleft soft palate	1	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome		82
HP:0100736	HP:0000172	Abnormal uvula morphology	1	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome		82
HP:0100736	HP:0000172	Abnormal uvula morphology	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0100736	HP:0000185	Cleft soft palate	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0100736	HP:0000185	Cleft soft palate	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0100736	HP:0000172	Abnormal uvula morphology	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0100736	HP:0000172	Abnormal uvula morphology	1	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0100736	HP:0000185	Cleft soft palate	1	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0100736	HP:0000185	Cleft soft palate	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0100736	HP:0000172	Abnormal uvula morphology	1	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome		180
HP:0100736	HP:0000185	Cleft soft palate	1	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome		180
HP:0100736	HP:0000185	Cleft soft palate	1	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome		33
HP:0100736	HP:0000172	Abnormal uvula morphology	1	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome		33
HP:0100736	HP:0000185	Cleft soft palate	1	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome		18
HP:0100736	HP:0000172	Abnormal uvula morphology	1	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome		18
HP:0100736	HP:0000185	Cleft soft palate	1	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome		213
HP:0100736	HP:0000172	Abnormal uvula morphology	1	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome		213
HP:0100736	HP:0000172	Abnormal uvula morphology	1	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome		221
HP:0100736	HP:0000185	Cleft soft palate	1	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome		221
HP:0100736	HP:0000172	Abnormal uvula morphology	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0100736	HP:0000185	Cleft soft palate	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0100736	HP:0000172	Abnormal uvula morphology	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0100736	HP:0000185	Cleft soft palate	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly		665
HP:0100736	HP:0000172	Abnormal uvula morphology	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly		665
HP:0100736	HP:0000185	Cleft soft palate	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly		665
HP:0100736	HP:0000172	Abnormal uvula morphology	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly		665
HP:0100736	HP:0000185	Cleft soft palate	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		665
HP:0100736	HP:0000172	Abnormal uvula morphology	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		665
HP:0100736	HP:0000172	Abnormal uvula morphology	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly		665
HP:0100736	HP:0000185	Cleft soft palate	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly		665
HP:0100736	HP:0000185	Cleft soft palate	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism		6
HP:0100736	HP:0000172	Abnormal uvula morphology	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism		6
HP:0100736	HP:0000220	Velopharyngeal insufficiency	1	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0100736	HP:0000172	Abnormal uvula morphology	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0100736	HP:0000172	Abnormal uvula morphology	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0100736	HP:0000220	Velopharyngeal insufficiency	1	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0100736	HP:0000172	Abnormal uvula morphology	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0100736	HP:0000185	Cleft soft palate	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0100736	HP:0000172	Abnormal uvula morphology	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0100736	HP:0000220	Velopharyngeal insufficiency	1	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.	7
HP:0100736	HP:0000172	Abnormal uvula morphology	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III		15
HP:0100736	HP:0000185	Cleft soft palate	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III		15
HP:0100736	HP:0000172	Abnormal uvula morphology	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0100736	HP:0000185	Cleft soft palate	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0100736	HP:0000185	Cleft soft palate	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0100736	HP:0000185	Cleft soft palate	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0100736	HP:0000185	Cleft soft palate	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0100736	HP:0000185	Cleft soft palate	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0100736	HP:0000185	Cleft soft palate	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0100736	HP:0000185	Cleft soft palate	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0100736	HP:0000185	Cleft soft palate	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	11
HP:0100736	HP:0000185	Cleft soft palate	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	40
HP:0100736	HP:0000185	Cleft soft palate	1	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6		40
HP:0100736	HP:0000172	Abnormal uvula morphology	1	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6		40
HP:0100736	HP:0000185	Cleft soft palate	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	26
HP:0100736	HP:0000185	Cleft soft palate	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0100736	HP:0000185	Cleft soft palate	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	5
HP:0100736	HP:0000185	Cleft soft palate	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	42
HP:0100736	HP:0000185	Cleft soft palate	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0100736	HP:0000172	Abnormal uvula morphology	1	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD		2
HP:0100736	HP:0000185	Cleft soft palate	1	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD		2
HP:0100736	HP:0000185	Cleft soft palate	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0100736	HP:0000185	Cleft soft palate	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	20
HP:0100736	HP:0000185	Cleft soft palate	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0100736	HP:0000185	Cleft soft palate	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0100736	HP:0000172	Abnormal uvula morphology	1	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis		1
HP:0100736	HP:0000185	Cleft soft palate	1	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis		1
HP:0100736	HP:0000185	Cleft soft palate	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0100736	HP:0000185	Cleft soft palate	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	20
HP:0100736	HP:0000185	Cleft soft palate	1	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0100736	HP:0000172	Abnormal uvula morphology	1	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0100736	HP:0000185	Cleft soft palate	1	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0100736	HP:0000172	Abnormal uvula morphology	1	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0100736	HP:0000172	Abnormal uvula morphology	1	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy		1200
HP:0100736	HP:0000185	Cleft soft palate	1	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy		1200
HP:0100736	HP:0000185	Cleft soft palate	1	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant		34
HP:0100736	HP:0000172	Abnormal uvula morphology	1	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant		34
HP:0100736	HP:0000185	Cleft soft palate	1	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0100736	HP:0000172	Abnormal uvula morphology	1	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia		2
HP:0100736	HP:0000185	Cleft soft palate	1	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia		2
HP:0100736	HP:0000172	Abnormal uvula morphology	1	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0100736	HP:0000185	Cleft soft palate	1	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0100736	HP:0000172	Abnormal uvula morphology	1	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0100736	HP:0000185	Cleft soft palate	1	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0100736	HP:0000172	Abnormal uvula morphology	1	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1	HP:0040283 - Occasional	64
HP:0100736	HP:0000172	Abnormal uvula morphology	1	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency		43
HP:0100736	HP:0000185	Cleft soft palate	1	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency		43
HP:0100736	HP:0000220	Velopharyngeal insufficiency	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0100736	HP:0000185	Cleft soft palate	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly		67
HP:0100736	HP:0000172	Abnormal uvula morphology	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly		67
HP:0100736	HP:0000185	Cleft soft palate	1	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3		67
HP:0100736	HP:0000172	Abnormal uvula morphology	1	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3		67
HP:0100736	HP:0000172	Abnormal uvula morphology	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly		67
HP:0100736	HP:0000185	Cleft soft palate	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly		67
HP:0100736	HP:0000172	Abnormal uvula morphology	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		67
HP:0100736	HP:0000185	Cleft soft palate	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		67
HP:0100736	HP:0000172	Abnormal uvula morphology	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly		67
HP:0100736	HP:0000185	Cleft soft palate	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly		67
HP:0100736	HP:0000185	Cleft soft palate	1	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0100736	HP:0000172	Abnormal uvula morphology	1	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0100736	HP:0000172	Abnormal uvula morphology	1	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0100736	HP:0000185	Cleft soft palate	1	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0100736	HP:0000220	Velopharyngeal insufficiency	1	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0100736	HP:0000185	Cleft soft palate	1	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0100736	HP:0000172	Abnormal uvula morphology	1	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0100736	HP:0000172	Abnormal uvula morphology	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly		32
HP:0100736	HP:0000185	Cleft soft palate	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly		32
HP:0100736	HP:0000172	Abnormal uvula morphology	1	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0100736	HP:0000185	Cleft soft palate	1	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0100736	HP:0000185	Cleft soft palate	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly		32
HP:0100736	HP:0000172	Abnormal uvula morphology	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly		32
HP:0100736	HP:0000185	Cleft soft palate	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		32
HP:0100736	HP:0000172	Abnormal uvula morphology	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		32
HP:0100736	HP:0000172	Abnormal uvula morphology	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly		32
HP:0100736	HP:0000185	Cleft soft palate	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly		32
HP:0100736	HP:0000185	Cleft soft palate	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0100736	HP:0000172	Abnormal uvula morphology	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0100736	HP:0000185	Cleft soft palate	1	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly	HP:0040283 - Occasional	36
HP:0100736	HP:0000185	Cleft soft palate	1	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0100736	HP:0000172	Abnormal uvula morphology	1	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0100736	HP:0000172	Abnormal uvula morphology	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0100736	HP:0000172	Abnormal uvula morphology	1	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome		260
HP:0100736	HP:0000185	Cleft soft palate	1	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome		260
HP:0100736	HP:0000172	Abnormal uvula morphology	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0100736	HP:0000185	Cleft soft palate	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0100736	HP:0000172	Abnormal uvula morphology	1	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome		504
HP:0100736	HP:0000185	Cleft soft palate	1	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome		504
HP:0100736	HP:0000172	Abnormal uvula morphology	1	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0100736	HP:0000185	Cleft soft palate	1	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0100736	HP:0000172	Abnormal uvula morphology	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly		135
HP:0100736	HP:0000185	Cleft soft palate	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly		135
HP:0100736	HP:0000185	Cleft soft palate	1	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome		174
HP:0100736	HP:0000172	Abnormal uvula morphology	1	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome		174
HP:0100736	HP:0000172	Abnormal uvula morphology	1	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0100736	HP:0000185	Cleft soft palate	1	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0100736	HP:0000185	Cleft soft palate	1	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type		19
HP:0100736	HP:0000172	Abnormal uvula morphology	1	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type		19
HP:0100736	HP:0000185	Cleft soft palate	1	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.	6
HP:0100736	HP:0000185	Cleft soft palate	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation		37
HP:0100736	HP:0000172	Abnormal uvula morphology	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation		37
HP:0100736	HP:0000172	Abnormal uvula morphology	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0100736	HP:0000185	Cleft soft palate	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0100736	HP:0000172	Abnormal uvula morphology	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0100736	HP:0000185	Cleft soft palate	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0100736	HP:0000185	Cleft soft palate	1	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy		20
HP:0100736	HP:0000172	Abnormal uvula morphology	1	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy		20
HP:0100736	HP:0000172	Abnormal uvula morphology	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0100736	HP:0000172	Abnormal uvula morphology	1	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy		14
HP:0100736	HP:0000185	Cleft soft palate	1	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy		14
HP:0100736	HP:0000185	Cleft soft palate	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly		1
HP:0100736	HP:0000172	Abnormal uvula morphology	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly		1
HP:0100736	HP:0000172	Abnormal uvula morphology	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly		1
HP:0100736	HP:0000185	Cleft soft palate	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly		1
HP:0100736	HP:0000172	Abnormal uvula morphology	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly		99
HP:0100736	HP:0000185	Cleft soft palate	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly		99
HP:0100736	HP:0000172	Abnormal uvula morphology	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly		99
HP:0100736	HP:0000185	Cleft soft palate	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly		99
HP:0100736	HP:0000185	Cleft soft palate	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		99
HP:0100736	HP:0000172	Abnormal uvula morphology	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		99
HP:0100736	HP:0000185	Cleft soft palate	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly		99
HP:0100736	HP:0000172	Abnormal uvula morphology	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly		99
HP:0100736	HP:0000172	Abnormal uvula morphology	1	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0100736	HP:0000185	Cleft soft palate	1	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0100736	HP:0000185	Cleft soft palate	1	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome		52
HP:0100736	HP:0000172	Abnormal uvula morphology	1	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome		52
HP:0100736	HP:0000185	Cleft soft palate	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0100736	HP:0000172	Abnormal uvula morphology	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0100736	HP:0000220	Velopharyngeal insufficiency	1	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0100736	HP:0000172	Abnormal uvula morphology	1	TBX22 CL E G H	50945	11600	OMIM:303400	Cleft palate, X-linked		28
HP:0100736	HP:0000185	Cleft soft palate	1	TBX22 CL E G H	50945	11600	OMIM:303400	Cleft palate, X-linked		28
HP:0100736	HP:0000185	Cleft soft palate	1	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome	.	140
HP:0100736	HP:0000172	Abnormal uvula morphology	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:0100736	HP:0000185	Cleft soft palate	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:0100736	HP:0000185	Cleft soft palate	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly		1
HP:0100736	HP:0000172	Abnormal uvula morphology	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly		1
HP:0100736	HP:0000172	Abnormal uvula morphology	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly		1
HP:0100736	HP:0000185	Cleft soft palate	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly		1
HP:0100736	HP:0000185	Cleft soft palate	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		1
HP:0100736	HP:0000172	Abnormal uvula morphology	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		1
HP:0100736	HP:0000185	Cleft soft palate	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly		1
HP:0100736	HP:0000172	Abnormal uvula morphology	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly		1
HP:0100736	HP:0000185	Cleft soft palate	1	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0100736	HP:0000172	Abnormal uvula morphology	1	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0100736	HP:0000172	Abnormal uvula morphology	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0100736	HP:0000185	Cleft soft palate	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0100736	HP:0000172	Abnormal uvula morphology	1	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome		239
HP:0100736	HP:0000185	Cleft soft palate	1	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome		239
HP:0100736	HP:0000172	Abnormal uvula morphology	1	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0100736	HP:0000185	Cleft soft palate	1	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0100736	HP:0000185	Cleft soft palate	1	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome		253
HP:0100736	HP:0000172	Abnormal uvula morphology	1	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome		253
HP:0100736	HP:0000172	Abnormal uvula morphology	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0100736	HP:0000185	Cleft soft palate	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0100736	HP:0000172	Abnormal uvula morphology	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly		32
HP:0100736	HP:0000185	Cleft soft palate	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly		32
HP:0100736	HP:0000185	Cleft soft palate	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly		32
HP:0100736	HP:0000172	Abnormal uvula morphology	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly		32
HP:0100736	HP:0000185	Cleft soft palate	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		32
HP:0100736	HP:0000172	Abnormal uvula morphology	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		32
HP:0100736	HP:0000185	Cleft soft palate	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly		32
HP:0100736	HP:0000172	Abnormal uvula morphology	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly		32
HP:0100736	HP:0000220	Velopharyngeal insufficiency	1	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome		1
HP:0100736	HP:0000220	Velopharyngeal insufficiency	1	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040283 - Occasional	1
HP:0100736	HP:0000172	Abnormal uvula morphology	1	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3		33
HP:0100736	HP:0000185	Cleft soft palate	1	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3		33
HP:0100736	HP:0000220	Velopharyngeal insufficiency	1	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	140
HP:0100736	HP:0000220	Velopharyngeal insufficiency	1	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	140
HP:0100736	HP:0000172	Abnormal uvula morphology	1	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome		140
HP:0100736	HP:0000172	Abnormal uvula morphology	1	TP63 CL E G H	8626	15979	OMIM:603543	Limb-Mammary syndrome		140
HP:0100736	HP:0000185	Cleft soft palate	1	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome		140
HP:0100736	HP:0000185	Cleft soft palate	1	TP63 CL E G H	8626	15979	OMIM:603543	Limb-Mammary syndrome		140
HP:0100736	HP:0000172	Abnormal uvula morphology	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0100736	HP:0000220	Velopharyngeal insufficiency	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.	140
HP:0100736	HP:0000185	Cleft soft palate	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0100736	HP:0000185	Cleft soft palate	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0100736	HP:0000172	Abnormal uvula morphology	1	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy		7128
HP:0100736	HP:0000185	Cleft soft palate	1	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy		7128
HP:0100736	HP:0000220	Velopharyngeal insufficiency	1	TUBB6 CL E G H	84617	20776	OMIM:617732	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	.
HP:0100736	HP:0000220	Velopharyngeal insufficiency	1	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0100736	HP:0000185	Cleft soft palate	1	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome		19
HP:0100736	HP:0000172	Abnormal uvula morphology	1	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome		19
HP:0100736	HP:0000172	Abnormal uvula morphology	1	UBB CL E G H	7314	12463	ORPHA:99771	Bifid uvula
HP:0100736	HP:0000185	Cleft soft palate	1	UBB CL E G H	7314	12463	ORPHA:99771	Bifid uvula
HP:0100736	HP:0000220	Velopharyngeal insufficiency	1	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum	HP:0040282 - Frequent
HP:0100736	HP:0000185	Cleft soft palate	1	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum	HP:0040282 - Frequent
HP:0100736	HP:0000172	Abnormal uvula morphology	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0100736	HP:0000172	Abnormal uvula morphology	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0100736	HP:0000185	Cleft soft palate	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0100736	HP:0000172	Abnormal uvula morphology	1	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly		136
HP:0100736	HP:0000172	Abnormal uvula morphology	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0100736	HP:0000172	Abnormal uvula morphology	1	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2		14
HP:0100736	HP:0000185	Cleft soft palate	1	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2		14
HP:0100736	HP:0000172	Abnormal uvula morphology	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0100736	HP:0000185	Cleft soft palate	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0100736	HP:0000185	Cleft soft palate	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0100736	HP:0000172	Abnormal uvula morphology	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0100736	HP:0000185	Cleft soft palate	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly		34
HP:0100736	HP:0000172	Abnormal uvula morphology	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly		34
HP:0100736	HP:0000172	Abnormal uvula morphology	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly		34
HP:0100736	HP:0000185	Cleft soft palate	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly		34
HP:0100736	HP:0000172	Abnormal uvula morphology	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		34
HP:0100736	HP:0000185	Cleft soft palate	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		34
HP:0100736	HP:0000172	Abnormal uvula morphology	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly		34
HP:0100736	HP:0000185	Cleft soft palate	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly		34
HP:0100736	HP:0000185	Cleft soft palate	1	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0100736	HP:0430016	Abnormality of tensor veli palatini muscle	2	CL E G H
HP:0100736	HP:3000073	Abnormality of levator veli palatini muscle	2	CL E G H
HP:0100736	HP:0010811	Narrow uvula	2	CL E G H
HP:0100736	HP:3000012	Abnormality of palatopharyngeus muscle	2	CL E G H
HP:0100736	HP:3000011	Abnormality of palatoglossus muscle	2	CL E G H
HP:0100736	HP:0430017	Abnormality of uvular muscle	2	CL E G H
HP:0100736	HP:0010810	Long uvula	2	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0100736	HP:0000193	Bifid uvula	2	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.	37
HP:0100736	HP:0000193	Bifid uvula	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0100736	HP:0000193	Bifid uvula	2	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0100736	HP:0000193	Bifid uvula	2	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040282 - Frequent	34
HP:0100736	HP:0000193	Bifid uvula	2	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		2
HP:0100736	HP:0000193	Bifid uvula	2	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs		4
HP:0100736	HP:0000193	Bifid uvula	2	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional	5
HP:0100736	HP:0000193	Bifid uvula	2	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	43
HP:0100736	HP:0000193	Bifid uvula	2	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0100736	HP:0000193	Bifid uvula	2	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	17
HP:0100736	HP:0000193	Bifid uvula	2	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0100736	HP:0000193	Bifid uvula	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0100736	HP:0000193	Bifid uvula	2	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome	.	7
HP:0100736	HP:0000193	Bifid uvula	2	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	99
HP:0100736	HP:0000193	Bifid uvula	2	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6	.	38
HP:0100736	HP:0010293	Aplasia/Hypoplasia of the uvula	2	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0100736	HP:0010293	Aplasia/Hypoplasia of the uvula	2	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0100736	HP:0010293	Aplasia/Hypoplasia of the uvula	2	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0100736	HP:0000193	Bifid uvula	2	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	9
HP:0100736	HP:0000193	Bifid uvula	2	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	31
HP:0100736	HP:0000193	Bifid uvula	2	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent	2
HP:0100736	HP:0000193	Bifid uvula	2	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.	2
HP:0100736	HP:0000193	Bifid uvula	2	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	200
HP:0100736	HP:0000193	Bifid uvula	2	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0100736	HP:0000193	Bifid uvula	2	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	200
HP:0100736	HP:0000193	Bifid uvula	2	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	200
HP:0100736	HP:0000193	Bifid uvula	2	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	50
HP:0100736	HP:0000193	Bifid uvula	2	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0100736	HP:0000193	Bifid uvula	2	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome		215
HP:0100736	HP:0000193	Bifid uvula	2	COL11A1 CL E G H	1301	2186	OMIM:604841	Stickler syndrome, type II		215
HP:0100736	HP:0000193	Bifid uvula	2	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040282 - Frequent	222
HP:0100736	HP:0000193	Bifid uvula	2	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita		284
HP:0100736	HP:0000193	Bifid uvula	2	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I		284
HP:0100736	HP:0000193	Bifid uvula	2	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	193
HP:0100736	HP:0000193	Bifid uvula	2	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional
HP:0100736	HP:0000193	Bifid uvula	2	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS		92
HP:0100736	HP:0000193	Bifid uvula	2	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	108
HP:0100736	HP:0000193	Bifid uvula	2	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102		57
HP:0100736	HP:0000193	Bifid uvula	2	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5	HP:0040283 - Occasional	2
HP:0100736	HP:0000193	Bifid uvula	2	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V	HP:0040283 - Occasional	2
HP:0100736	HP:0000193	Bifid uvula	2	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040281 - Very frequent	72
HP:0100736	HP:0000193	Bifid uvula	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0100736	HP:0000193	Bifid uvula	2	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	22
HP:0100736	HP:0000193	Bifid uvula	2	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0100736	HP:0000193	Bifid uvula	2	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	22
HP:0100736	HP:0000193	Bifid uvula	2	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	22
HP:0100736	HP:0000193	Bifid uvula	2	DLG3 CL E G H	1741	2902	OMIM:300850	MENTAL RETARDATION, X-LINKED 90; MRX90		30
HP:0100736	HP:0000193	Bifid uvula	2	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0100736	HP:0000193	Bifid uvula	2	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	3
HP:0100736	HP:0000193	Bifid uvula	2	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0100736	HP:0000193	Bifid uvula	2	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	3
HP:0100736	HP:0000193	Bifid uvula	2	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	3
HP:0100736	HP:0000193	Bifid uvula	2	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	6
HP:0100736	HP:0000193	Bifid uvula	2	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3	.	6
HP:0100736	HP:0000193	Bifid uvula	2	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	.	4
HP:0100736	HP:0010293	Aplasia/Hypoplasia of the uvula	2	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0100736	HP:0000193	Bifid uvula	2	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.	135
HP:0100736	HP:0010293	Aplasia/Hypoplasia of the uvula	2	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0100736	HP:0010293	Aplasia/Hypoplasia of the uvula	2	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0100736	HP:0010293	Aplasia/Hypoplasia of the uvula	2	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0100736	HP:0010293	Aplasia/Hypoplasia of the uvula	2	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0100736	HP:0010293	Aplasia/Hypoplasia of the uvula	2	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0100736	HP:0010293	Aplasia/Hypoplasia of the uvula	2	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0100736	HP:0010293	Aplasia/Hypoplasia of the uvula	2	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0100736	HP:0010293	Aplasia/Hypoplasia of the uvula	2	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0100736	HP:0010293	Aplasia/Hypoplasia of the uvula	2	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0100736	HP:0010293	Aplasia/Hypoplasia of the uvula	2	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0100736	HP:0000193	Bifid uvula	2	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities		7
HP:0100736	HP:0000193	Bifid uvula	2	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	17
HP:0100736	HP:0000193	Bifid uvula	2	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	17
HP:0100736	HP:0000193	Bifid uvula	2	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0100736	HP:0000193	Bifid uvula	2	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	17
HP:0100736	HP:0000193	Bifid uvula	2	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	17
HP:0100736	HP:0000193	Bifid uvula	2	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	172
HP:0100736	HP:0000193	Bifid uvula	2	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	172
HP:0100736	HP:0000193	Bifid uvula	2	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040283 - Occasional	175
HP:0100736	HP:0000193	Bifid uvula	2	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0100736	HP:0000193	Bifid uvula	2	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	175
HP:0100736	HP:0000193	Bifid uvula	2	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	145
HP:0100736	HP:0000193	Bifid uvula	2	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	157
HP:0100736	HP:0000193	Bifid uvula	2	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	184
HP:0100736	HP:0000193	Bifid uvula	2	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional	493
HP:0100736	HP:0000193	Bifid uvula	2	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	48
HP:0100736	HP:0000193	Bifid uvula	2	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0100736	HP:0000193	Bifid uvula	2	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	48
HP:0100736	HP:0000193	Bifid uvula	2	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	48
HP:0100736	HP:0000193	Bifid uvula	2	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath	.	70
HP:0100736	HP:0000193	Bifid uvula	2	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	2
HP:0100736	HP:0000193	Bifid uvula	2	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0100736	HP:0000193	Bifid uvula	2	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	2
HP:0100736	HP:0000193	Bifid uvula	2	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	2
HP:0100736	HP:0000193	Bifid uvula	2	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0100736	HP:0000193	Bifid uvula	2	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0100736	HP:0000193	Bifid uvula	2	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	173
HP:0100736	HP:0000193	Bifid uvula	2	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0100736	HP:0000193	Bifid uvula	2	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	173
HP:0100736	HP:0000193	Bifid uvula	2	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	173
HP:0100736	HP:0000193	Bifid uvula	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0100736	HP:0000193	Bifid uvula	2	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	3
HP:0100736	HP:0000193	Bifid uvula	2	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	2
HP:0100736	HP:0000193	Bifid uvula	2	GRHL3 CL E G H	57822	25839	ORPHA:99771	Bifid uvula	HP:0040280 - Obligate	12
HP:0100736	HP:0011819	Submucous cleft soft palate	2	GRHL3 CL E G H	57822	25839	ORPHA:99771	Bifid uvula	HP:0040283 - Occasional	12
HP:0100736	HP:0000193	Bifid uvula	2	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1	.	2
HP:0100736	HP:0000193	Bifid uvula	2	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional	8
HP:0100736	HP:0000193	Bifid uvula	2	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional	8
HP:0100736	HP:0000193	Bifid uvula	2	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX		28
HP:0100736	HP:0000193	Bifid uvula	2	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus	HP:0040282 - Frequent	31
HP:0100736	HP:0000193	Bifid uvula	2	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	HP:0040284 - Very rare	148
HP:0100736	HP:0000193	Bifid uvula	2	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0100736	HP:0000193	Bifid uvula	2	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent
HP:0100736	HP:0000193	Bifid uvula	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0100736	HP:0010809	Broad uvula	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0100736	HP:0011819	Submucous cleft soft palate	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0100736	HP:0000193	Bifid uvula	2	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome		99
HP:0100736	HP:0000193	Bifid uvula	2	IRF6 CL E G H	3664	6121	OMIM:119300	van der Woude syndrome 1	.	99
HP:0100736	HP:0000193	Bifid uvula	2	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040282 - Frequent	141
HP:0100736	HP:0000193	Bifid uvula	2	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional	13
HP:0100736	HP:0000193	Bifid uvula	2	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME		4
HP:0100736	HP:0011819	Submucous cleft soft palate	2	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME		4
HP:0100736	HP:0000193	Bifid uvula	2	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional	7
HP:0100736	HP:0000193	Bifid uvula	2	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0100736	HP:0000193	Bifid uvula	2	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12	HP:0040283 - Occasional	9
HP:0100736	HP:0000193	Bifid uvula	2	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0100736	HP:0000193	Bifid uvula	2	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus	HP:0040282 - Frequent	167
HP:0100736	HP:0000193	Bifid uvula	2	KMT2C CL E G H	58508	13726	OMIM:617768	Kleefstra syndrome 2		99
HP:0100736	HP:0000193	Bifid uvula	2	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	136
HP:0100736	HP:0010293	Aplasia/Hypoplasia of the uvula	2	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0100736	HP:0000193	Bifid uvula	2	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional	11
HP:0100736	HP:0000193	Bifid uvula	2	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	HP:0040283 - Occasional	11
HP:0100736	HP:0000193	Bifid uvula	2	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0100736	HP:0000193	Bifid uvula	2	METTL23 CL E G H	124512	26988	OMIM:615942	Mental retardation, autosomal recessive 44		13
HP:0100736	HP:0000193	Bifid uvula	2	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0100736	HP:0011819	Submucous cleft soft palate	2	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040282 - Frequent	101
HP:0100736	HP:0000193	Bifid uvula	2	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	45
HP:0100736	HP:0000193	Bifid uvula	2	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0100736	HP:0000193	Bifid uvula	2	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	45
HP:0100736	HP:0000193	Bifid uvula	2	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	45
HP:0100736	HP:0011819	Submucous cleft soft palate	2	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0100736	HP:0010293	Aplasia/Hypoplasia of the uvula	2	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2		2
HP:0100736	HP:0000193	Bifid uvula	2	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	53
HP:0100736	HP:0000193	Bifid uvula	2	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	21
HP:0100736	HP:0000193	Bifid uvula	2	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	39
HP:0100736	HP:0010293	Aplasia/Hypoplasia of the uvula	2	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0100736	HP:0000193	Bifid uvula	2	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0100736	HP:0000193	Bifid uvula	2	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0100736	HP:0000193	Bifid uvula	2	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	20
HP:0100736	HP:0000193	Bifid uvula	2	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0100736	HP:0010293	Aplasia/Hypoplasia of the uvula	2	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0100736	HP:0010293	Aplasia/Hypoplasia of the uvula	2	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis		11
HP:0100736	HP:0000193	Bifid uvula	2	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	.	77
HP:0100736	HP:0000193	Bifid uvula	2	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040281 - Very frequent	77
HP:0100736	HP:0000193	Bifid uvula	2	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	36
HP:0100736	HP:0000193	Bifid uvula	2	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	84
HP:0100736	HP:0000193	Bifid uvula	2	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	57
HP:0100736	HP:0000193	Bifid uvula	2	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	6
HP:0100736	HP:0000193	Bifid uvula	2	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0100736	HP:0000193	Bifid uvula	2	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	82
HP:0100736	HP:0000193	Bifid uvula	2	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent
HP:0100736	HP:0000193	Bifid uvula	2	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0100736	HP:0000193	Bifid uvula	2	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome	HP:0040284 - Very rare	2
HP:0100736	HP:0011819	Submucous cleft soft palate	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0100736	HP:0000193	Bifid uvula	2	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	180
HP:0100736	HP:0000193	Bifid uvula	2	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	33
HP:0100736	HP:0000193	Bifid uvula	2	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	18
HP:0100736	HP:0000193	Bifid uvula	2	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	213
HP:0100736	HP:0000193	Bifid uvula	2	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	221
HP:0100736	HP:0000193	Bifid uvula	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0100736	HP:0010293	Aplasia/Hypoplasia of the uvula	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0100736	HP:0000193	Bifid uvula	2	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	665
HP:0100736	HP:0000193	Bifid uvula	2	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0100736	HP:0000193	Bifid uvula	2	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	665
HP:0100736	HP:0000193	Bifid uvula	2	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	665
HP:0100736	HP:0000193	Bifid uvula	2	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040283 - Occasional	6
HP:0100736	HP:0010293	Aplasia/Hypoplasia of the uvula	2	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0100736	HP:0010293	Aplasia/Hypoplasia of the uvula	2	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0100736	HP:0000193	Bifid uvula	2	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0100736	HP:0010293	Aplasia/Hypoplasia of the uvula	2	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0100736	HP:0000193	Bifid uvula	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040282 - Frequent	15
HP:0100736	HP:0010293	Aplasia/Hypoplasia of the uvula	2	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0100736	HP:0000193	Bifid uvula	2	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6	.	40
HP:0100736	HP:0000193	Bifid uvula	2	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD		2
HP:0100736	HP:0000193	Bifid uvula	2	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis		1
HP:0100736	HP:0000193	Bifid uvula	2	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0100736	HP:0000193	Bifid uvula	2	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional
HP:0100736	HP:0000193	Bifid uvula	2	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	1200
HP:0100736	HP:0000193	Bifid uvula	2	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant	HP:0040283 - Occasional	34
HP:0100736	HP:0000193	Bifid uvula	2	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	HP:0040283 - Occasional	2
HP:0100736	HP:0000193	Bifid uvula	2	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	HP:0040282 - Frequent
HP:0100736	HP:0000193	Bifid uvula	2	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0100736	HP:0000193	Bifid uvula	2	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040283 - Occasional	43
HP:0100736	HP:0000193	Bifid uvula	2	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	67
HP:0100736	HP:0000193	Bifid uvula	2	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3	.	67
HP:0100736	HP:0000193	Bifid uvula	2	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0100736	HP:0000193	Bifid uvula	2	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	67
HP:0100736	HP:0000193	Bifid uvula	2	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	67
HP:0100736	HP:0000193	Bifid uvula	2	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0100736	HP:0000193	Bifid uvula	2	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0100736	HP:0000193	Bifid uvula	2	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.	50
HP:0100736	HP:0000193	Bifid uvula	2	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0100736	HP:0000193	Bifid uvula	2	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2	.	32
HP:0100736	HP:0000193	Bifid uvula	2	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0100736	HP:0000193	Bifid uvula	2	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	32
HP:0100736	HP:0000193	Bifid uvula	2	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0100736	HP:0000193	Bifid uvula	2	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0100736	HP:0000193	Bifid uvula	2	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0100736	HP:0010293	Aplasia/Hypoplasia of the uvula	2	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0100736	HP:0000193	Bifid uvula	2	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040282 - Frequent	260
HP:0100736	HP:0000193	Bifid uvula	2	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0100736	HP:0000193	Bifid uvula	2	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040283 - Occasional	504
HP:0100736	HP:0000193	Bifid uvula	2	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0100736	HP:0000193	Bifid uvula	2	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	135
HP:0100736	HP:0000193	Bifid uvula	2	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	HP:0040283 - Occasional	174
HP:0100736	HP:0000193	Bifid uvula	2	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0100736	HP:0000193	Bifid uvula	2	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type	.	19
HP:0100736	HP:0000193	Bifid uvula	2	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0100736	HP:0011819	Submucous cleft soft palate	2	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0100736	HP:0000193	Bifid uvula	2	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0100736	HP:0000193	Bifid uvula	2	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0100736	HP:0000193	Bifid uvula	2	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	20
HP:0100736	HP:0010293	Aplasia/Hypoplasia of the uvula	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0100736	HP:0011819	Submucous cleft soft palate	2	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy	HP:0040283 - Occasional	14
HP:0100736	HP:0000193	Bifid uvula	2	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy	HP:0040283 - Occasional	14
HP:0100736	HP:0000193	Bifid uvula	2	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0100736	HP:0000193	Bifid uvula	2	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0100736	HP:0000193	Bifid uvula	2	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	99
HP:0100736	HP:0000193	Bifid uvula	2	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0100736	HP:0000193	Bifid uvula	2	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	99
HP:0100736	HP:0000193	Bifid uvula	2	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	99
HP:0100736	HP:0000193	Bifid uvula	2	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0100736	HP:0000193	Bifid uvula	2	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.	52
HP:0100736	HP:0000193	Bifid uvula	2	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0100736	HP:0000193	Bifid uvula	2	TBX22 CL E G H	50945	11600	OMIM:303400	Cleft palate, X-linked	.	28
HP:0100736	HP:0000193	Bifid uvula	2	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040282 - Frequent	31
HP:0100736	HP:0000193	Bifid uvula	2	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0100736	HP:0000193	Bifid uvula	2	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0100736	HP:0000193	Bifid uvula	2	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	1
HP:0100736	HP:0000193	Bifid uvula	2	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0100736	HP:0010809	Broad uvula	2	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0100736	HP:0000193	Bifid uvula	2	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0100736	HP:0000193	Bifid uvula	2	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0100736	HP:0000193	Bifid uvula	2	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent	239
HP:0100736	HP:0000193	Bifid uvula	2	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0100736	HP:0000193	Bifid uvula	2	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent	253
HP:0100736	HP:0000193	Bifid uvula	2	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0100736	HP:0000193	Bifid uvula	2	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0100736	HP:0000193	Bifid uvula	2	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0100736	HP:0000193	Bifid uvula	2	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	32
HP:0100736	HP:0000193	Bifid uvula	2	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0100736	HP:0000193	Bifid uvula	2	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040282 - Frequent	33
HP:0100736	HP:0011819	Submucous cleft soft palate	2	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040283 - Occasional	140
HP:0100736	HP:0000193	Bifid uvula	2	TP63 CL E G H	8626	15979	OMIM:603543	Limb-Mammary syndrome	.	140
HP:0100736	HP:0000193	Bifid uvula	2	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040283 - Occasional	140
HP:0100736	HP:0000193	Bifid uvula	2	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.	140
HP:0100736	HP:0000193	Bifid uvula	2	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	7128
HP:0100736	HP:0000193	Bifid uvula	2	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.	19
HP:0100736	HP:0011819	Submucous cleft soft palate	2	UBB CL E G H	7314	12463	ORPHA:99771	Bifid uvula	HP:0040283 - Occasional
HP:0100736	HP:0000193	Bifid uvula	2	UBB CL E G H	7314	12463	ORPHA:99771	Bifid uvula	HP:0040280 - Obligate
HP:0100736	HP:0010293	Aplasia/Hypoplasia of the uvula	2	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0100736	HP:0000193	Bifid uvula	2	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0100736	HP:0010293	Aplasia/Hypoplasia of the uvula	2	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly		136
HP:0100736	HP:0010293	Aplasia/Hypoplasia of the uvula	2	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0100736	HP:0000193	Bifid uvula	2	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2	HP:0040284 - Very rare	14
HP:0100736	HP:0000193	Bifid uvula	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040284 - Very rare	362
HP:0100736	HP:0000193	Bifid uvula	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040284 - Very rare	362
HP:0100736	HP:0000193	Bifid uvula	2	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	34
HP:0100736	HP:0000193	Bifid uvula	2	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	34
HP:0100736	HP:0000193	Bifid uvula	2	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	34
HP:0100736	HP:0000193	Bifid uvula	2	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	34
HP:0100736	HP:0010292	Absent uvula	3	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.	2
HP:0100736	HP:0010292	Absent uvula	3	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0100736	HP:0010292	Absent uvula	3	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis		11
HP:0100736	HP:0010812	Short uvula	3	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0100736	HP:0010292	Absent uvula	3	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0100736	HP:0010812	Short uvula	3	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0100736	HP:0010812	Short uvula	3	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly	.	136