Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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

Grandparent Node:
Abnormal oral morphology (HP:0031816)

Parent Node:
Oral cleft (HP:0000202)

..Starting node
..Cleft lip (HP:0410030)

Term ID:

410030

Name:

Cleft lip

Synonym:

Cleft lip; Cleft of the lip

Definition:

A gap in the lip or lips.

Comments:

Reference:

HP:0410030

Genes and Diseases:

Child Nodes:

........

Cleft upper lip (HP:0000204)

................... HP:0000161 Median cleft lip
................... HP:0009101 Submucous cleft lip
................... HP:0011340 Incomplete cleft of the upper lip
................... HP:0100335 Non-midline cleft lip

........

Cleft lower lip (HP:0010281)

Sister Nodes:

Cleft palate (HP:0000175)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0410030	HP:0410030	Cleft lip	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0410030	HP:0410030	Cleft lip	0	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset			72
HP:0410030	HP:0410030	Cleft lip	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		22
HP:0410030	HP:0410030	Cleft lip	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0410030	HP:0410030	Cleft lip	0	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina	HP:0040284 - Very rare		132
HP:0410030	HP:0410030	Cleft lip	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0410030	HP:0410030	Cleft lip	0	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0410030	HP:0410030	Cleft lip	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0410030	HP:0410030	Cleft lip	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040283 - Occasional		145
HP:0410030	HP:0410030	Cleft lip	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0410030	HP:0410030	Cleft lip	0	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome			38
HP:0410030	HP:0410030	Cleft lip	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0410030	HP:0410030	Cleft lip	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0410030	HP:0410030	Cleft lip	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0410030	HP:0410030	Cleft lip	0	BMP4 CL E G H	652	1071	OMIM:600625	OROFACIAL CLEFT 11; OFC11			38
HP:0410030	HP:0410030	Cleft lip	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.		27
HP:0410030	HP:0410030	Cleft lip	0	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6			247
HP:0410030	HP:0410030	Cleft lip	0	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0410030	HP:0410030	Cleft lip	0	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome			1003
HP:0410030	HP:0410030	Cleft lip	0	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1			1003
HP:0410030	HP:0410030	Cleft lip	0	CDH1 CL E G H	999	1748	OMIM:137215	Gastric cancer, hereditary diffuse			1003
HP:0410030	HP:0410030	Cleft lip	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0410030	HP:0410030	Cleft lip	0	CDON CL E G H	50937	17104	OMIM:614226	Holoprosencephaly 11	.		200
HP:0410030	HP:0410030	Cleft lip	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0410030	HP:0410030	Cleft lip	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0410030	HP:0410030	Cleft lip	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0410030	HP:0410030	Cleft lip	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.		7
HP:0410030	HP:0410030	Cleft lip	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0410030	HP:0410030	Cleft lip	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0410030	HP:0410030	Cleft lip	0	CHD7 CL E G H	55636	20626	OMIM:612370	Hypogonadotropic hypogonadism 5 with or without anosmia	.		515
HP:0410030	HP:0410030	Cleft lip	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040283 - Occasional		27
HP:0410030	HP:0410030	Cleft lip	0	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2			3
HP:0410030	HP:0410030	Cleft lip	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0410030	HP:0410030	Cleft lip	0	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3			3
HP:0410030	HP:0410030	Cleft lip	0	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2			9
HP:0410030	HP:0410030	Cleft lip	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0410030	HP:0410030	Cleft lip	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0410030	HP:0410030	Cleft lip	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0410030	HP:0410030	Cleft lip	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0410030	HP:0410030	Cleft lip	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0410030	HP:0410030	Cleft lip	0	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome
HP:0410030	HP:0410030	Cleft lip	0	CYP26C1 CL E G H	340665	20577	ORPHA:398189	Focal facial dermal dysplasia type IV			2
HP:0410030	HP:0410030	Cleft lip	0	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102			57
HP:0410030	HP:0410030	Cleft lip	0	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5			2
HP:0410030	HP:0410030	Cleft lip	0	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0410030	HP:0410030	Cleft lip	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0410030	HP:0410030	Cleft lip	0	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis			59
HP:0410030	HP:0410030	Cleft lip	0	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis			59
HP:0410030	HP:0410030	Cleft lip	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0410030	HP:0410030	Cleft lip	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0410030	HP:0410030	Cleft lip	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0410030	HP:0410030	Cleft lip	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0410030	HP:0410030	Cleft lip	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0410030	HP:0410030	Cleft lip	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0410030	HP:0410030	Cleft lip	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0410030	HP:0410030	Cleft lip	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0410030	HP:0410030	Cleft lip	0	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15			1
HP:0410030	HP:0410030	Cleft lip	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040283 - Occasional		13
HP:0410030	HP:0410030	Cleft lip	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0410030	HP:0410030	Cleft lip	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0410030	HP:0410030	Cleft lip	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0410030	HP:0410030	Cleft lip	0	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3			304
HP:0410030	HP:0410030	Cleft lip	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			304
HP:0410030	HP:0410030	Cleft lip	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0410030	HP:0410030	Cleft lip	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0410030	HP:0410030	Cleft lip	0	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly			7
HP:0410030	HP:0410030	Cleft lip	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome			27
HP:0410030	HP:0410030	Cleft lip	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome	.		8
HP:0410030	HP:0410030	Cleft lip	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0410030	HP:0410030	Cleft lip	0	ESCO2 CL E G H	157570	27230	OMIM:216100	Cleft lip/palate with abnormal thumbs and microcephaly			92
HP:0410030	HP:0410030	Cleft lip	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0410030	HP:0410030	Cleft lip	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome			92
HP:0410030	HP:0410030	Cleft lip	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome			209
HP:0410030	HP:0410030	Cleft lip	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome			137
HP:0410030	HP:0410030	Cleft lip	0	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia			35
HP:0410030	HP:0410030	Cleft lip	0	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities			7
HP:0410030	HP:0410030	Cleft lip	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0410030	HP:0410030	Cleft lip	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0410030	HP:0410030	Cleft lip	0	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral			2
HP:0410030	HP:0410030	Cleft lip	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0410030	HP:0410030	Cleft lip	0	FGF8 CL E G H	2253	3686	OMIM:612702	Hypogonadotropic hypogonadism 6 with or without anosmia	.		17
HP:0410030	HP:0410030	Cleft lip	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0410030	HP:0410030	Cleft lip	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0410030	HP:0410030	Cleft lip	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0410030	HP:0410030	Cleft lip	0	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome			172
HP:0410030	HP:0410030	Cleft lip	0	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome			172
HP:0410030	HP:0410030	Cleft lip	0	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia			172
HP:0410030	HP:0410030	Cleft lip	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0410030	HP:0410030	Cleft lip	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0410030	HP:0410030	Cleft lip	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0410030	HP:0410030	Cleft lip	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0410030	HP:0410030	Cleft lip	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0410030	HP:0410030	Cleft lip	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0410030	HP:0410030	Cleft lip	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome			233
HP:0410030	HP:0410030	Cleft lip	0	FLRT3 CL E G H	23767	3762	OMIM:615271	Hypogonadotropic hypogonadism 21 with or without anosmia			4
HP:0410030	HP:0410030	Cleft lip	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0410030	HP:0410030	Cleft lip	0	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome			20
HP:0410030	HP:0410030	Cleft lip	0	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0410030	HP:0410030	Cleft lip	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0410030	HP:0410030	Cleft lip	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0410030	HP:0410030	Cleft lip	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0410030	HP:0410030	Cleft lip	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0410030	HP:0410030	Cleft lip	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0410030	HP:0410030	Cleft lip	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0410030	HP:0410030	Cleft lip	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome			353
HP:0410030	HP:0410030	Cleft lip	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome			263
HP:0410030	HP:0410030	Cleft lip	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0410030	HP:0410030	Cleft lip	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0410030	HP:0410030	Cleft lip	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0410030	HP:0410030	Cleft lip	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0410030	HP:0410030	Cleft lip	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0410030	HP:0410030	Cleft lip	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		29
HP:0410030	HP:0410030	Cleft lip	0	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0410030	HP:0410030	Cleft lip	0	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral			1
HP:0410030	HP:0410030	Cleft lip	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0410030	HP:0410030	Cleft lip	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0410030	HP:0410030	Cleft lip	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0410030	HP:0410030	Cleft lip	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			173
HP:0410030	HP:0410030	Cleft lip	0	GLI2 CL E G H	2736	4318	OMIM:615849	Culler-Jones syndrome			173
HP:0410030	HP:0410030	Cleft lip	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9			173
HP:0410030	HP:0410030	Cleft lip	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0410030	HP:0410030	Cleft lip	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0410030	HP:0410030	Cleft lip	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0410030	HP:0410030	Cleft lip	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional		270
HP:0410030	HP:0410030	Cleft lip	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome			270
HP:0410030	HP:0410030	Cleft lip	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0410030	HP:0410030	Cleft lip	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0410030	HP:0410030	Cleft lip	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0410030	HP:0410030	Cleft lip	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0410030	HP:0410030	Cleft lip	0	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral
HP:0410030	HP:0410030	Cleft lip	0	GRHL3 CL E G H	57822	25839	ORPHA:99771	Bifid uvula	HP:0040283 - Occasional		12
HP:0410030	HP:0410030	Cleft lip	0	GRHL3 CL E G H	57822	25839	ORPHA:888	Van der Woude syndrome			12
HP:0410030	HP:0410030	Cleft lip	0	GRHL3 CL E G H	57822	25839	OMIM:606713	Van der woude syndrome 2			12
HP:0410030	HP:0410030	Cleft lip	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome			80
HP:0410030	HP:0410030	Cleft lip	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0410030	HP:0410030	Cleft lip	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			21
HP:0410030	HP:0410030	Cleft lip	0	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association			25
HP:0410030	HP:0410030	Cleft lip	0	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus			31
HP:0410030	HP:0410030	Cleft lip	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0410030	HP:0410030	Cleft lip	0	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII	.
HP:0410030	HP:0410030	Cleft lip	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			65
HP:0410030	HP:0410030	Cleft lip	0	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0410030	HP:0410030	Cleft lip	0	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0410030	HP:0410030	Cleft lip	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0410030	HP:0410030	Cleft lip	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0410030	HP:0410030	Cleft lip	0	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome			99
HP:0410030	HP:0410030	Cleft lip	0	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip			99
HP:0410030	HP:0410030	Cleft lip	0	IRF6 CL E G H	3664	6121	OMIM:608864	Orofacial cleft 6, susceptibility to			99
HP:0410030	HP:0410030	Cleft lip	0	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome			99
HP:0410030	HP:0410030	Cleft lip	0	IRF6 CL E G H	3664	6121	ORPHA:888	Van der Woude syndrome			99
HP:0410030	HP:0410030	Cleft lip	0	IRF6 CL E G H	3664	6121	OMIM:119300	van der Woude syndrome 1			99
HP:0410030	HP:0410030	Cleft lip	0	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral			4
HP:0410030	HP:0410030	Cleft lip	0	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease			222
HP:0410030	HP:0410030	Cleft lip	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0410030	HP:0410030	Cleft lip	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0410030	HP:0410030	Cleft lip	0	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0410030	HP:0410030	Cleft lip	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0410030	HP:0410030	Cleft lip	0	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus			167
HP:0410030	HP:0410030	Cleft lip	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0410030	HP:0410030	Cleft lip	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0410030	HP:0410030	Cleft lip	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0410030	HP:0410030	Cleft lip	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			43
HP:0410030	HP:0410030	Cleft lip	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome			165
HP:0410030	HP:0410030	Cleft lip	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1			21
HP:0410030	HP:0410030	Cleft lip	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0410030	HP:0410030	Cleft lip	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0410030	HP:0410030	Cleft lip	0	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0410030	HP:0410030	Cleft lip	0	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive			5
HP:0410030	HP:0410030	Cleft lip	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040282 - Frequent		57
HP:0410030	HP:0410030	Cleft lip	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0410030	HP:0410030	Cleft lip	0	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip			12
HP:0410030	HP:0410030	Cleft lip	0	MSX1 CL E G H	4487	7391	OMIM:608874	OROFACIAL CLEFT 5; OFC5			12
HP:0410030	HP:0410030	Cleft lip	0	MSX2 CL E G H	4488	7392	ORPHA:60015	Enlarged parietal foramina	HP:0040284 - Very rare		45
HP:0410030	HP:0410030	Cleft lip	0	MSX2 CL E G H	4488	7392	OMIM:168500	Parietal foramina			45
HP:0410030	HP:0410030	Cleft lip	0	MTHFR CL E G H	4524	7436	ORPHA:563609	Isolated anencephaly	HP:0040283 - Occasional		183
HP:0410030	HP:0410030	Cleft lip	0	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0410030	HP:0410030	Cleft lip	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0410030	HP:0410030	Cleft lip	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0410030	HP:0410030	Cleft lip	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome			706
HP:0410030	HP:0410030	Cleft lip	0	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0410030	HP:0410030	Cleft lip	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0410030	HP:0410030	Cleft lip	0	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip			4
HP:0410030	HP:0410030	Cleft lip	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2			101
HP:0410030	HP:0410030	Cleft lip	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly			101
HP:0410030	HP:0410030	Cleft lip	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0410030	HP:0410030	Cleft lip	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0410030	HP:0410030	Cleft lip	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0410030	HP:0410030	Cleft lip	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0410030	HP:0410030	Cleft lip	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0410030	HP:0410030	Cleft lip	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0410030	HP:0410030	Cleft lip	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0410030	HP:0410030	Cleft lip	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0410030	HP:0410030	Cleft lip	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0410030	HP:0410030	Cleft lip	0	NSMF CL E G H	26012	29843	OMIM:614838	Hypogonadotropic hypogonadism 9 with or without anosmia	.		6
HP:0410030	HP:0410030	Cleft lip	0	NUAK2 CL E G H	81788	29558	OMIM:619452	ANENCEPHALY 2; ANPH2
HP:0410030	HP:0410030	Cleft lip	0	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7	.		5
HP:0410030	HP:0410030	Cleft lip	0	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11	.		5
HP:0410030	HP:0410030	Cleft lip	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0410030	HP:0410030	Cleft lip	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0410030	HP:0410030	Cleft lip	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1			201
HP:0410030	HP:0410030	Cleft lip	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			41
HP:0410030	HP:0410030	Cleft lip	0	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1			59
HP:0410030	HP:0410030	Cleft lip	0	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome			23
HP:0410030	HP:0410030	Cleft lip	0	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type			23
HP:0410030	HP:0410030	Cleft lip	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0410030	HP:0410030	Cleft lip	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0410030	HP:0410030	Cleft lip	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0410030	HP:0410030	Cleft lip	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0410030	HP:0410030	Cleft lip	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0410030	HP:0410030	Cleft lip	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0410030	HP:0410030	Cleft lip	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0410030	HP:0410030	Cleft lip	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0410030	HP:0410030	Cleft lip	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0410030	HP:0410030	Cleft lip	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0410030	HP:0410030	Cleft lip	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0410030	HP:0410030	Cleft lip	0	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2			221
HP:0410030	HP:0410030	Cleft lip	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0410030	HP:0410030	Cleft lip	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			36
HP:0410030	HP:0410030	Cleft lip	0	PROKR2 CL E G H	128674	15836	OMIM:244200	Hypogonadotropic hypogonadism 3 with or without anosmia			34
HP:0410030	HP:0410030	Cleft lip	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			54
HP:0410030	HP:0410030	Cleft lip	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0410030	HP:0410030	Cleft lip	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0410030	HP:0410030	Cleft lip	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7			665
HP:0410030	HP:0410030	Cleft lip	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0410030	HP:0410030	Cleft lip	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0410030	HP:0410030	Cleft lip	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0410030	HP:0410030	Cleft lip	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0410030	HP:0410030	Cleft lip	0	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0410030	HP:0410030	Cleft lip	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0410030	HP:0410030	Cleft lip	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0410030	HP:0410030	Cleft lip	0	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral			572
HP:0410030	HP:0410030	Cleft lip	0	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0410030	HP:0410030	Cleft lip	0	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome			69
HP:0410030	HP:0410030	Cleft lip	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0410030	HP:0410030	Cleft lip	0	RPGRIP1L CL E G H	23322	29168	OMIM:611561	Meckel syndrome, type 5			167
HP:0410030	HP:0410030	Cleft lip	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		22
HP:0410030	HP:0410030	Cleft lip	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		3
HP:0410030	HP:0410030	Cleft lip	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0410030	HP:0410030	Cleft lip	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		3
HP:0410030	HP:0410030	Cleft lip	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0410030	HP:0410030	Cleft lip	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0410030	HP:0410030	Cleft lip	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0410030	HP:0410030	Cleft lip	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		11
HP:0410030	HP:0410030	Cleft lip	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		40
HP:0410030	HP:0410030	Cleft lip	0	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6			40
HP:0410030	HP:0410030	Cleft lip	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		26
HP:0410030	HP:0410030	Cleft lip	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0410030	HP:0410030	Cleft lip	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		5
HP:0410030	HP:0410030	Cleft lip	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		42
HP:0410030	HP:0410030	Cleft lip	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0410030	HP:0410030	Cleft lip	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0410030	HP:0410030	Cleft lip	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		22
HP:0410030	HP:0410030	Cleft lip	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		20
HP:0410030	HP:0410030	Cleft lip	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0410030	HP:0410030	Cleft lip	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0410030	HP:0410030	Cleft lip	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		3
HP:0410030	HP:0410030	Cleft lip	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		20
HP:0410030	HP:0410030	Cleft lip	0	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0410030	HP:0410030	Cleft lip	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0410030	HP:0410030	Cleft lip	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0410030	HP:0410030	Cleft lip	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0410030	HP:0410030	Cleft lip	0	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome			49
HP:0410030	HP:0410030	Cleft lip	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0410030	HP:0410030	Cleft lip	0	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3	.		67
HP:0410030	HP:0410030	Cleft lip	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0410030	HP:0410030	Cleft lip	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0410030	HP:0410030	Cleft lip	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0410030	HP:0410030	Cleft lip	0	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor			67
HP:0410030	HP:0410030	Cleft lip	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0410030	HP:0410030	Cleft lip	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2			32
HP:0410030	HP:0410030	Cleft lip	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0410030	HP:0410030	Cleft lip	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0410030	HP:0410030	Cleft lip	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0410030	HP:0410030	Cleft lip	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0410030	HP:0410030	Cleft lip	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome			178
HP:0410030	HP:0410030	Cleft lip	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0410030	HP:0410030	Cleft lip	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome			504
HP:0410030	HP:0410030	Cleft lip	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0410030	HP:0410030	Cleft lip	0	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome			174
HP:0410030	HP:0410030	Cleft lip	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome	.		2
HP:0410030	HP:0410030	Cleft lip	0	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included			22
HP:0410030	HP:0410030	Cleft lip	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0410030	HP:0410030	Cleft lip	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies			15
HP:0410030	HP:0410030	Cleft lip	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0410030	HP:0410030	Cleft lip	0	SPECC1L CL E G H	23384	29022	OMIM:600251	Facial clefting, oblique, 1			6
HP:0410030	HP:0410030	Cleft lip	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0410030	HP:0410030	Cleft lip	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0410030	HP:0410030	Cleft lip	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0410030	HP:0410030	Cleft lip	0	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.		1
HP:0410030	HP:0410030	Cleft lip	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0410030	HP:0410030	Cleft lip	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0410030	HP:0410030	Cleft lip	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0410030	HP:0410030	Cleft lip	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0410030	HP:0410030	Cleft lip	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0410030	HP:0410030	Cleft lip	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0410030	HP:0410030	Cleft lip	0	SUMO1 CL E G H	7341	12502	OMIM:613705	Orofacial cleft 10			8
HP:0410030	HP:0410030	Cleft lip	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0410030	HP:0410030	Cleft lip	0	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0410030	HP:0410030	Cleft lip	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0410030	HP:0410030	Cleft lip	0	TCTN2 CL E G H	79867	25774	OMIM:613885	Meckel syndrome, type 8			76
HP:0410030	HP:0410030	Cleft lip	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0410030	HP:0410030	Cleft lip	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0410030	HP:0410030	Cleft lip	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0410030	HP:0410030	Cleft lip	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0410030	HP:0410030	Cleft lip	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0410030	HP:0410030	Cleft lip	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome			12
HP:0410030	HP:0410030	Cleft lip	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0410030	HP:0410030	Cleft lip	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0410030	HP:0410030	Cleft lip	0	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome			6
HP:0410030	HP:0410030	Cleft lip	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0410030	HP:0410030	Cleft lip	0	TGIF1 CL E G H	7050	11776	OMIM:142946	Holoprosencephaly 4			32
HP:0410030	HP:0410030	Cleft lip	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0410030	HP:0410030	Cleft lip	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0410030	HP:0410030	Cleft lip	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0410030	HP:0410030	Cleft lip	0	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia			6
HP:0410030	HP:0410030	Cleft lip	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0410030	HP:0410030	Cleft lip	0	TP63 CL E G H	8626	15979	ORPHA:1072	Ankyloblepharon filiforme adnatum-cleft palate syndrome			140
HP:0410030	HP:0410030	Cleft lip	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate			140
HP:0410030	HP:0410030	Cleft lip	0	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip			140
HP:0410030	HP:0410030	Cleft lip	0	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040283 - Occasional		140
HP:0410030	HP:0410030	Cleft lip	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0410030	HP:0410030	Cleft lip	0	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13			158
HP:0410030	HP:0410030	Cleft lip	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.		2
HP:0410030	HP:0410030	Cleft lip	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0410030	HP:0410030	Cleft lip	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome			19
HP:0410030	HP:0410030	Cleft lip	0	UBB CL E G H	7314	12463	ORPHA:99771	Bifid uvula	HP:0040283 - Occasional
HP:0410030	HP:0410030	Cleft lip	0	VANGL2 CL E G H	57216	15511	ORPHA:563609	Isolated anencephaly	HP:0040283 - Occasional		2
HP:0410030	HP:0410030	Cleft lip	0	VAX1 CL E G H	11023	12660	OMIM:614402	Microphthalmia, syndromic 11			5
HP:0410030	HP:0410030	Cleft lip	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			136
HP:0410030	HP:0410030	Cleft lip	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0410030	HP:0410030	Cleft lip	0	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive			12
HP:0410030	HP:0410030	Cleft lip	0	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs	.		4
HP:0410030	HP:0410030	Cleft lip	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0410030	HP:0410030	Cleft lip	0	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral
HP:0410030	HP:0410030	Cleft lip	0	YAP1 CL E G H	10413	16262	OMIM:120433	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation			2
HP:0410030	HP:0410030	Cleft lip	0	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability			2
HP:0410030	HP:0410030	Cleft lip	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0410030	HP:0410030	Cleft lip	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0410030	HP:0410030	Cleft lip	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0410030	HP:0410030	Cleft lip	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0410030	HP:0410030	Cleft lip	0	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis			5
HP:0410030	HP:0410030	Cleft lip	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia			5
HP:0410030	HP:0010281	Cleft lower lip	1	CL E G H
HP:0410030	HP:0000204	Cleft upper lip	1	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	HP:0040283 - Occasional		72
HP:0410030	HP:0000204	Cleft upper lip	1	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset	.		72
HP:0410030	HP:0000204	Cleft upper lip	1	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0410030	HP:0000204	Cleft upper lip	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.		34
HP:0410030	HP:0000204	Cleft upper lip	1	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.		147
HP:0410030	HP:0000204	Cleft upper lip	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.		145
HP:0410030	HP:0000204	Cleft upper lip	1	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome			38
HP:0410030	HP:0000204	Cleft upper lip	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040282 - Frequent		36
HP:0410030	HP:0000204	Cleft upper lip	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0410030	HP:0000204	Cleft upper lip	1	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.		101
HP:0410030	HP:0000204	Cleft upper lip	1	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6	HP:0040283 - Occasional	HP:0003577 - Congenital onset	247
HP:0410030	HP:0000204	Cleft upper lip	1	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome			1003
HP:0410030	HP:0000204	Cleft upper lip	1	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1	.		1003
HP:0410030	HP:0000204	Cleft upper lip	1	CDH1 CL E G H	999	1748	OMIM:137215	Gastric cancer, hereditary diffuse	HP:0040283 - Occasional		1003
HP:0410030	HP:0000204	Cleft upper lip	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0410030	HP:0000204	Cleft upper lip	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0410030	HP:0000204	Cleft upper lip	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0410030	HP:0000204	Cleft upper lip	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0410030	HP:0000204	Cleft upper lip	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		515
HP:0410030	HP:0000204	Cleft upper lip	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.		515
HP:0410030	HP:0000204	Cleft upper lip	1	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2			3
HP:0410030	HP:0000204	Cleft upper lip	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA	.
HP:0410030	HP:0000204	Cleft upper lip	1	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3			3
HP:0410030	HP:0000204	Cleft upper lip	1	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	.		9
HP:0410030	HP:0000204	Cleft upper lip	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0410030	HP:0000204	Cleft upper lip	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.		1
HP:0410030	HP:0000204	Cleft upper lip	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		1
HP:0410030	HP:0000204	Cleft upper lip	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.		2
HP:0410030	HP:0000204	Cleft upper lip	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		2
HP:0410030	HP:0000204	Cleft upper lip	1	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome
HP:0410030	HP:0000204	Cleft upper lip	1	CYP26C1 CL E G H	340665	20577	ORPHA:398189	Focal facial dermal dysplasia type IV	HP:0040282 - Frequent		2
HP:0410030	HP:0000204	Cleft upper lip	1	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102			57
HP:0410030	HP:0000204	Cleft upper lip	1	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5			2
HP:0410030	HP:0000204	Cleft upper lip	1	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0410030	HP:0000204	Cleft upper lip	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040283 - Occasional		33
HP:0410030	HP:0000204	Cleft upper lip	1	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis			59
HP:0410030	HP:0000204	Cleft upper lip	1	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis	.		59
HP:0410030	HP:0000204	Cleft upper lip	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0410030	HP:0000204	Cleft upper lip	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0410030	HP:0000204	Cleft upper lip	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0410030	HP:0000204	Cleft upper lip	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0410030	HP:0000204	Cleft upper lip	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0410030	HP:0000204	Cleft upper lip	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0410030	HP:0000204	Cleft upper lip	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0410030	HP:0000204	Cleft upper lip	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0410030	HP:0000204	Cleft upper lip	1	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15			1
HP:0410030	HP:0000204	Cleft upper lip	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0410030	HP:0000204	Cleft upper lip	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0410030	HP:0000204	Cleft upper lip	1	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3	HP:0040283 - Occasional		304
HP:0410030	HP:0000204	Cleft upper lip	1	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent		304
HP:0410030	HP:0000204	Cleft upper lip	1	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0410030	HP:0000204	Cleft upper lip	1	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0410030	HP:0000204	Cleft upper lip	1	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly			7
HP:0410030	HP:0000204	Cleft upper lip	1	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.		27
HP:0410030	HP:0000204	Cleft upper lip	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.		40
HP:0410030	HP:0000204	Cleft upper lip	1	ESCO2 CL E G H	157570	27230	OMIM:216100	Cleft lip/palate with abnormal thumbs and microcephaly	.		92
HP:0410030	HP:0000204	Cleft upper lip	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.		92
HP:0410030	HP:0000204	Cleft upper lip	1	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040282 - Frequent		92
HP:0410030	HP:0000204	Cleft upper lip	1	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.		209
HP:0410030	HP:0000204	Cleft upper lip	1	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.		137
HP:0410030	HP:0000204	Cleft upper lip	1	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia			35
HP:0410030	HP:0000204	Cleft upper lip	1	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome	.		62
HP:0410030	HP:0000204	Cleft upper lip	1	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040283 - Occasional		62
HP:0410030	HP:0000204	Cleft upper lip	1	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral			2
HP:0410030	HP:0000204	Cleft upper lip	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0410030	HP:0000204	Cleft upper lip	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0410030	HP:0000204	Cleft upper lip	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0410030	HP:0000204	Cleft upper lip	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0410030	HP:0000204	Cleft upper lip	1	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome	.		172
HP:0410030	HP:0000204	Cleft upper lip	1	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome			172
HP:0410030	HP:0000204	Cleft upper lip	1	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia	.		172
HP:0410030	HP:0000204	Cleft upper lip	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0410030	HP:0000204	Cleft upper lip	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0410030	HP:0000204	Cleft upper lip	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	.
HP:0410030	HP:0000204	Cleft upper lip	1	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		157
HP:0410030	HP:0000204	Cleft upper lip	1	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		184
HP:0410030	HP:0000204	Cleft upper lip	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040283 - Occasional
HP:0410030	HP:0000204	Cleft upper lip	1	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.		233
HP:0410030	HP:0000204	Cleft upper lip	1	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0410030	HP:0000204	Cleft upper lip	1	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0410030	HP:0000204	Cleft upper lip	1	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome	HP:0040283 - Occasional		20
HP:0410030	HP:0000204	Cleft upper lip	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0410030	HP:0000204	Cleft upper lip	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0410030	HP:0000204	Cleft upper lip	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0410030	HP:0000204	Cleft upper lip	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0410030	HP:0000204	Cleft upper lip	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.		353
HP:0410030	HP:0000204	Cleft upper lip	1	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional		353
HP:0410030	HP:0000204	Cleft upper lip	1	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional		263
HP:0410030	HP:0000204	Cleft upper lip	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0410030	HP:0000204	Cleft upper lip	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0410030	HP:0000204	Cleft upper lip	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0410030	HP:0000204	Cleft upper lip	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0410030	HP:0000204	Cleft upper lip	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0410030	HP:0000204	Cleft upper lip	1	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0410030	HP:0000204	Cleft upper lip	1	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral			1
HP:0410030	HP:0000204	Cleft upper lip	1	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.		68
HP:0410030	HP:0000204	Cleft upper lip	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0410030	HP:0000204	Cleft upper lip	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0410030	HP:0000204	Cleft upper lip	1	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			173
HP:0410030	HP:0000204	Cleft upper lip	1	GLI2 CL E G H	2736	4318	OMIM:615849	Culler-Jones syndrome	HP:0040283 - Occasional		173
HP:0410030	HP:0000204	Cleft upper lip	1	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9			173
HP:0410030	HP:0000204	Cleft upper lip	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0410030	HP:0000204	Cleft upper lip	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0410030	HP:0000204	Cleft upper lip	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0410030	HP:0000204	Cleft upper lip	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	HP:0040283 - Occasional		270
HP:0410030	HP:0000204	Cleft upper lip	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional		73
HP:0410030	HP:0000204	Cleft upper lip	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0410030	HP:0000204	Cleft upper lip	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0410030	HP:0000204	Cleft upper lip	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0410030	HP:0000204	Cleft upper lip	1	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral
HP:0410030	HP:0000204	Cleft upper lip	1	GRHL3 CL E G H	57822	25839	ORPHA:888	Van der Woude syndrome	HP:0040283 - Occasional		12
HP:0410030	HP:0000204	Cleft upper lip	1	GRHL3 CL E G H	57822	25839	OMIM:606713	Van der woude syndrome 2	.		12
HP:0410030	HP:0000204	Cleft upper lip	1	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional		80
HP:0410030	HP:0000204	Cleft upper lip	1	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0410030	HP:0000204	Cleft upper lip	1	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			21
HP:0410030	HP:0000204	Cleft upper lip	1	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association			25
HP:0410030	HP:0000204	Cleft upper lip	1	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus			31
HP:0410030	HP:0000204	Cleft upper lip	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0410030	HP:0000204	Cleft upper lip	1	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent		65
HP:0410030	HP:0000204	Cleft upper lip	1	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0410030	HP:0000204	Cleft upper lip	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040283 - Occasional		119
HP:0410030	HP:0000204	Cleft upper lip	1	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome			99
HP:0410030	HP:0000204	Cleft upper lip	1	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip			99
HP:0410030	HP:0000204	Cleft upper lip	1	IRF6 CL E G H	3664	6121	OMIM:608864	Orofacial cleft 6, susceptibility to	.		99
HP:0410030	HP:0000204	Cleft upper lip	1	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome	.		99
HP:0410030	HP:0000204	Cleft upper lip	1	IRF6 CL E G H	3664	6121	ORPHA:888	Van der Woude syndrome	HP:0040283 - Occasional		99
HP:0410030	HP:0000204	Cleft upper lip	1	IRF6 CL E G H	3664	6121	OMIM:119300	van der Woude syndrome 1	.		99
HP:0410030	HP:0000204	Cleft upper lip	1	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral			4
HP:0410030	HP:0000204	Cleft upper lip	1	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease	HP:0040282 - Frequent		222
HP:0410030	HP:0000204	Cleft upper lip	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome	.		283
HP:0410030	HP:0000204	Cleft upper lip	1	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0410030	HP:0000204	Cleft upper lip	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0410030	HP:0000204	Cleft upper lip	1	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus			167
HP:0410030	HP:0000204	Cleft upper lip	1	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		136
HP:0410030	HP:0000204	Cleft upper lip	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	.		2
HP:0410030	HP:0000204	Cleft upper lip	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		2
HP:0410030	HP:0000204	Cleft upper lip	1	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			43
HP:0410030	HP:0000204	Cleft upper lip	1	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.		165
HP:0410030	HP:0000204	Cleft upper lip	1	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.		21
HP:0410030	HP:0000204	Cleft upper lip	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0410030	HP:0000204	Cleft upper lip	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.		228
HP:0410030	HP:0000204	Cleft upper lip	1	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation	.		7
HP:0410030	HP:0000204	Cleft upper lip	1	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive	.		5
HP:0410030	HP:0000204	Cleft upper lip	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I	.		57
HP:0410030	HP:0000204	Cleft upper lip	1	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip			12
HP:0410030	HP:0000204	Cleft upper lip	1	MSX1 CL E G H	4487	7391	OMIM:608874	OROFACIAL CLEFT 5; OFC5			12
HP:0410030	HP:0000204	Cleft upper lip	1	MSX2 CL E G H	4488	7392	OMIM:168500	Parietal foramina	.		45
HP:0410030	HP:0000204	Cleft upper lip	1	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.		23
HP:0410030	HP:0000204	Cleft upper lip	1	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0410030	HP:0000204	Cleft upper lip	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.		706
HP:0410030	HP:0000204	Cleft upper lip	1	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome	.		4
HP:0410030	HP:0000204	Cleft upper lip	1	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040281 - Very frequent		4
HP:0410030	HP:0000204	Cleft upper lip	1	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip			4
HP:0410030	HP:0000204	Cleft upper lip	1	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2			101
HP:0410030	HP:0000204	Cleft upper lip	1	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly			101
HP:0410030	HP:0000204	Cleft upper lip	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0410030	HP:0000204	Cleft upper lip	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0410030	HP:0000204	Cleft upper lip	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0410030	HP:0000204	Cleft upper lip	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0410030	HP:0000204	Cleft upper lip	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0410030	HP:0000204	Cleft upper lip	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0410030	HP:0000204	Cleft upper lip	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	.		118
HP:0410030	HP:0000204	Cleft upper lip	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		118
HP:0410030	HP:0000204	Cleft upper lip	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	.		34
HP:0410030	HP:0000204	Cleft upper lip	1	NUAK2 CL E G H	81788	29558	OMIM:619452	ANENCEPHALY 2; ANPH2
HP:0410030	HP:0000204	Cleft upper lip	1	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0410030	HP:0000204	Cleft upper lip	1	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1			201
HP:0410030	HP:0000204	Cleft upper lip	1	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			41
HP:0410030	HP:0000204	Cleft upper lip	1	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040283 - Occasional		59
HP:0410030	HP:0000204	Cleft upper lip	1	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type	HP:0040281 - Very frequent		23
HP:0410030	HP:0000204	Cleft upper lip	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.		37
HP:0410030	HP:0000204	Cleft upper lip	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		7
HP:0410030	HP:0000204	Cleft upper lip	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0410030	HP:0000204	Cleft upper lip	1	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0410030	HP:0000204	Cleft upper lip	1	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0410030	HP:0000204	Cleft upper lip	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0410030	HP:0000204	Cleft upper lip	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional
HP:0410030	HP:0000204	Cleft upper lip	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		38
HP:0410030	HP:0000204	Cleft upper lip	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		31
HP:0410030	HP:0000204	Cleft upper lip	1	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		213
HP:0410030	HP:0000204	Cleft upper lip	1	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		221
HP:0410030	HP:0000204	Cleft upper lip	1	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2			221
HP:0410030	HP:0000204	Cleft upper lip	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0410030	HP:0000204	Cleft upper lip	1	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			36
HP:0410030	HP:0000204	Cleft upper lip	1	PROKR2 CL E G H	128674	15836	OMIM:244200	Hypogonadotropic hypogonadism 3 with or without anosmia	.		34
HP:0410030	HP:0000204	Cleft upper lip	1	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			54
HP:0410030	HP:0000204	Cleft upper lip	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0410030	HP:0000204	Cleft upper lip	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0410030	HP:0000204	Cleft upper lip	1	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7			665
HP:0410030	HP:0000204	Cleft upper lip	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0410030	HP:0000204	Cleft upper lip	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0410030	HP:0000204	Cleft upper lip	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0410030	HP:0000204	Cleft upper lip	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0410030	HP:0000204	Cleft upper lip	1	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0410030	HP:0000204	Cleft upper lip	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040283 - Occasional		150
HP:0410030	HP:0000204	Cleft upper lip	1	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral			572
HP:0410030	HP:0000204	Cleft upper lip	1	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome			69
HP:0410030	HP:0000204	Cleft upper lip	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0410030	HP:0000204	Cleft upper lip	1	RPGRIP1L CL E G H	23322	29168	OMIM:611561	Meckel syndrome, type 5	.		167
HP:0410030	HP:0000204	Cleft upper lip	1	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6			40
HP:0410030	HP:0000204	Cleft upper lip	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1	.		42
HP:0410030	HP:0000204	Cleft upper lip	1	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0410030	HP:0000204	Cleft upper lip	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		16
HP:0410030	HP:0000204	Cleft upper lip	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.		2
HP:0410030	HP:0000204	Cleft upper lip	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.		49
HP:0410030	HP:0000204	Cleft upper lip	1	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome			49
HP:0410030	HP:0000204	Cleft upper lip	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0410030	HP:0000204	Cleft upper lip	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0410030	HP:0000204	Cleft upper lip	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0410030	HP:0000204	Cleft upper lip	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0410030	HP:0000204	Cleft upper lip	1	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor			67
HP:0410030	HP:0000204	Cleft upper lip	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0410030	HP:0000204	Cleft upper lip	1	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2			32
HP:0410030	HP:0000204	Cleft upper lip	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0410030	HP:0000204	Cleft upper lip	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0410030	HP:0000204	Cleft upper lip	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0410030	HP:0000204	Cleft upper lip	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional		68
HP:0410030	HP:0000204	Cleft upper lip	1	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome			178
HP:0410030	HP:0000204	Cleft upper lip	1	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome			504
HP:0410030	HP:0000204	Cleft upper lip	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0410030	HP:0000204	Cleft upper lip	1	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included			22
HP:0410030	HP:0000204	Cleft upper lip	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent		15
HP:0410030	HP:0000204	Cleft upper lip	1	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.		15
HP:0410030	HP:0000204	Cleft upper lip	1	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0410030	HP:0000204	Cleft upper lip	1	SPECC1L CL E G H	23384	29022	OMIM:600251	Facial clefting, oblique, 1	.		6
HP:0410030	HP:0000204	Cleft upper lip	1	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0410030	HP:0000204	Cleft upper lip	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0410030	HP:0000204	Cleft upper lip	1	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0410030	HP:0000204	Cleft upper lip	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0410030	HP:0000204	Cleft upper lip	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0410030	HP:0000204	Cleft upper lip	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0410030	HP:0000204	Cleft upper lip	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0410030	HP:0000204	Cleft upper lip	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0410030	HP:0000204	Cleft upper lip	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0410030	HP:0000204	Cleft upper lip	1	SUMO1 CL E G H	7341	12502	OMIM:613705	Orofacial cleft 10			8
HP:0410030	HP:0000204	Cleft upper lip	1	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0410030	HP:0000204	Cleft upper lip	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		140
HP:0410030	HP:0000204	Cleft upper lip	1	TCTN2 CL E G H	79867	25774	OMIM:613885	Meckel syndrome, type 8	.		76
HP:0410030	HP:0000204	Cleft upper lip	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0410030	HP:0000204	Cleft upper lip	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0410030	HP:0000204	Cleft upper lip	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0410030	HP:0000204	Cleft upper lip	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0410030	HP:0000204	Cleft upper lip	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0410030	HP:0000204	Cleft upper lip	1	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome			12
HP:0410030	HP:0000204	Cleft upper lip	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0410030	HP:0000204	Cleft upper lip	1	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome	.		6
HP:0410030	HP:0000204	Cleft upper lip	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0410030	HP:0000204	Cleft upper lip	1	TGIF1 CL E G H	7050	11776	OMIM:142946	Holoprosencephaly 4			32
HP:0410030	HP:0000204	Cleft upper lip	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0410030	HP:0000204	Cleft upper lip	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0410030	HP:0000204	Cleft upper lip	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0410030	HP:0000204	Cleft upper lip	1	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040283 - Occasional		6
HP:0410030	HP:0000204	Cleft upper lip	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.		6
HP:0410030	HP:0000204	Cleft upper lip	1	TP63 CL E G H	8626	15979	ORPHA:1072	Ankyloblepharon filiforme adnatum-cleft palate syndrome			140
HP:0410030	HP:0000204	Cleft upper lip	1	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.		140
HP:0410030	HP:0000204	Cleft upper lip	1	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip			140
HP:0410030	HP:0000204	Cleft upper lip	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.		140
HP:0410030	HP:0000204	Cleft upper lip	1	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13	HP:0040283 - Occasional		158
HP:0410030	HP:0000204	Cleft upper lip	1	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.		19
HP:0410030	HP:0000204	Cleft upper lip	1	VAX1 CL E G H	11023	12660	OMIM:614402	Microphthalmia, syndromic 11	.		5
HP:0410030	HP:0000204	Cleft upper lip	1	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent		136
HP:0410030	HP:0000204	Cleft upper lip	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0410030	HP:0000204	Cleft upper lip	1	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive	.		12
HP:0410030	HP:0000204	Cleft upper lip	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0410030	HP:0000204	Cleft upper lip	1	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral
HP:0410030	HP:0000204	Cleft upper lip	1	YAP1 CL E G H	10413	16262	OMIM:120433	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation	HP:0040283 - Occasional		2
HP:0410030	HP:0000204	Cleft upper lip	1	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability			2
HP:0410030	HP:0000204	Cleft upper lip	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0410030	HP:0000204	Cleft upper lip	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0410030	HP:0000204	Cleft upper lip	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0410030	HP:0000204	Cleft upper lip	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0410030	HP:0000204	Cleft upper lip	1	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis	.		5
HP:0410030	HP:0000204	Cleft upper lip	1	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia			5
HP:0410030	HP:0000161	Median cleft lip	2	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.		9
HP:0410030	HP:0100335	Non-midline cleft lip	2	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome	HP:0040281 - Very frequent		38
HP:0410030	HP:0100335	Non-midline cleft lip	2	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome			1003
HP:0410030	HP:0000161	Median cleft lip	2	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0410030	HP:0000161	Median cleft lip	2	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0410030	HP:0000161	Median cleft lip	2	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		200
HP:0410030	HP:0000161	Median cleft lip	2	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0410030	HP:0100335	Non-midline cleft lip	2	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2			3
HP:0410030	HP:0100335	Non-midline cleft lip	2	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0410030	HP:0000161	Median cleft lip	2	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0410030	HP:0011340	Incomplete cleft of the upper lip	2	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0410030	HP:0100335	Non-midline cleft lip	2	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome
HP:0410030	HP:0000161	Median cleft lip	2	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5	HP:0040281 - Very frequent		2
HP:0410030	HP:0100335	Non-midline cleft lip	2	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5	HP:0040283 - Occasional		2
HP:0410030	HP:0000161	Median cleft lip	2	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V	.		2
HP:0410030	HP:0100335	Non-midline cleft lip	2	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis	HP:0040282 - Frequent		59
HP:0410030	HP:0000161	Median cleft lip	2	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0410030	HP:0000161	Median cleft lip	2	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0410030	HP:0000161	Median cleft lip	2	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		22
HP:0410030	HP:0000161	Median cleft lip	2	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0410030	HP:0000161	Median cleft lip	2	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0410030	HP:0000161	Median cleft lip	2	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0410030	HP:0000161	Median cleft lip	2	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		3
HP:0410030	HP:0000161	Median cleft lip	2	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0410030	HP:0100335	Non-midline cleft lip	2	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15			1
HP:0410030	HP:0000161	Median cleft lip	2	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0410030	HP:0000161	Median cleft lip	2	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0410030	HP:0000161	Median cleft lip	2	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly			7
HP:0410030	HP:0000161	Median cleft lip	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0410030	HP:0000161	Median cleft lip	2	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia			35
HP:0410030	HP:0100335	Non-midline cleft lip	2	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral	HP:0040283 - Occasional		2
HP:0410030	HP:0000161	Median cleft lip	2	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0410030	HP:0000161	Median cleft lip	2	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0410030	HP:0000161	Median cleft lip	2	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		17
HP:0410030	HP:0000161	Median cleft lip	2	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0410030	HP:0100335	Non-midline cleft lip	2	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome	HP:0040281 - Very frequent		172
HP:0410030	HP:0000161	Median cleft lip	2	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0410030	HP:0000161	Median cleft lip	2	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0410030	HP:0000161	Median cleft lip	2	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0410030	HP:0000161	Median cleft lip	2	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0410030	HP:0000161	Median cleft lip	2	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0410030	HP:0000161	Median cleft lip	2	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		48
HP:0410030	HP:0000161	Median cleft lip	2	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0410030	HP:0000161	Median cleft lip	2	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0410030	HP:0000161	Median cleft lip	2	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0410030	HP:0000161	Median cleft lip	2	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0410030	HP:0000161	Median cleft lip	2	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		2
HP:0410030	HP:0000161	Median cleft lip	2	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0410030	HP:0100335	Non-midline cleft lip	2	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0410030	HP:0100335	Non-midline cleft lip	2	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral	HP:0040283 - Occasional		1
HP:0410030	HP:0000161	Median cleft lip	2	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent		68
HP:0410030	HP:0100335	Non-midline cleft lip	2	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional		68
HP:0410030	HP:0000161	Median cleft lip	2	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0410030	HP:0000161	Median cleft lip	2	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			173
HP:0410030	HP:0100335	Non-midline cleft lip	2	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9			173
HP:0410030	HP:0000161	Median cleft lip	2	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0410030	HP:0000161	Median cleft lip	2	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		173
HP:0410030	HP:0000161	Median cleft lip	2	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0410030	HP:0009101	Submucous cleft lip	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0410030	HP:0009101	Submucous cleft lip	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0410030	HP:0100335	Non-midline cleft lip	2	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral	HP:0040283 - Occasional
HP:0410030	HP:0000161	Median cleft lip	2	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0410030	HP:0000161	Median cleft lip	2	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			21
HP:0410030	HP:0100335	Non-midline cleft lip	2	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040283 - Occasional		25
HP:0410030	HP:0100335	Non-midline cleft lip	2	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus			31
HP:0410030	HP:0000161	Median cleft lip	2	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1	.		31
HP:0410030	HP:0000161	Median cleft lip	2	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0410030	HP:0100335	Non-midline cleft lip	2	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome	HP:0040282 - Frequent		99
HP:0410030	HP:0100335	Non-midline cleft lip	2	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip	HP:0040282 - Frequent		99
HP:0410030	HP:0100335	Non-midline cleft lip	2	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral	HP:0040283 - Occasional		4
HP:0410030	HP:0100335	Non-midline cleft lip	2	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0410030	HP:0100335	Non-midline cleft lip	2	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus			167
HP:0410030	HP:0000161	Median cleft lip	2	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			43
HP:0410030	HP:0100335	Non-midline cleft lip	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0410030	HP:0100335	Non-midline cleft lip	2	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0410030	HP:0100335	Non-midline cleft lip	2	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip	HP:0040282 - Frequent		12
HP:0410030	HP:0100335	Non-midline cleft lip	2	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040283 - Occasional		706
HP:0410030	HP:0100335	Non-midline cleft lip	2	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0410030	HP:0100335	Non-midline cleft lip	2	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip	HP:0040282 - Frequent		4
HP:0410030	HP:0000161	Median cleft lip	2	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040282 - Frequent		101
HP:0410030	HP:0000161	Median cleft lip	2	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	.		101
HP:0410030	HP:0000161	Median cleft lip	2	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0410030	HP:0000161	Median cleft lip	2	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0410030	HP:0000161	Median cleft lip	2	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		45
HP:0410030	HP:0000161	Median cleft lip	2	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0410030	HP:0000161	Median cleft lip	2	NUAK2 CL E G H	81788	29558	OMIM:619452	ANENCEPHALY 2; ANPH2
HP:0410030	HP:0000161	Median cleft lip	2	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.		201
HP:0410030	HP:0000161	Median cleft lip	2	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040281 - Very frequent		201
HP:0410030	HP:0000161	Median cleft lip	2	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			41
HP:0410030	HP:0000161	Median cleft lip	2	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040282 - Frequent		37
HP:0410030	HP:0100335	Non-midline cleft lip	2	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040282 - Frequent		37
HP:0410030	HP:0000161	Median cleft lip	2	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0410030	HP:0000161	Median cleft lip	2	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent
HP:0410030	HP:0000161	Median cleft lip	2	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			36
HP:0410030	HP:0000161	Median cleft lip	2	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			54
HP:0410030	HP:0000161	Median cleft lip	2	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0410030	HP:0100335	Non-midline cleft lip	2	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7			665
HP:0410030	HP:0000161	Median cleft lip	2	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7			665
HP:0410030	HP:0000161	Median cleft lip	2	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0410030	HP:0000161	Median cleft lip	2	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		665
HP:0410030	HP:0000161	Median cleft lip	2	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0410030	HP:0100335	Non-midline cleft lip	2	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0410030	HP:0100335	Non-midline cleft lip	2	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral	HP:0040283 - Occasional		572
HP:0410030	HP:0000161	Median cleft lip	2	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome	HP:0040281 - Very frequent		69
HP:0410030	HP:0100335	Non-midline cleft lip	2	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0410030	HP:0100335	Non-midline cleft lip	2	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040283 - Occasional		49
HP:0410030	HP:0000161	Median cleft lip	2	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0410030	HP:0000161	Median cleft lip	2	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0410030	HP:0000161	Median cleft lip	2	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		67
HP:0410030	HP:0000161	Median cleft lip	2	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0410030	HP:0000161	Median cleft lip	2	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0410030	HP:0100335	Non-midline cleft lip	2	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2			32
HP:0410030	HP:0000161	Median cleft lip	2	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2			32
HP:0410030	HP:0000161	Median cleft lip	2	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0410030	HP:0000161	Median cleft lip	2	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0410030	HP:0000161	Median cleft lip	2	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0410030	HP:0000161	Median cleft lip	2	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome			178
HP:0410030	HP:0100335	Non-midline cleft lip	2	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome			504
HP:0410030	HP:0000161	Median cleft lip	2	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		135
HP:0410030	HP:0000161	Median cleft lip	2	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included	.		22
HP:0410030	HP:0100335	Non-midline cleft lip	2	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0410030	HP:0100335	Non-midline cleft lip	2	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0410030	HP:0000161	Median cleft lip	2	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0410030	HP:0000161	Median cleft lip	2	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0410030	HP:0000161	Median cleft lip	2	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0410030	HP:0000161	Median cleft lip	2	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0410030	HP:0000161	Median cleft lip	2	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0410030	HP:0000161	Median cleft lip	2	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		99
HP:0410030	HP:0000161	Median cleft lip	2	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0410030	HP:0100335	Non-midline cleft lip	2	SUMO1 CL E G H	7341	12502	OMIM:613705	Orofacial cleft 10			8
HP:0410030	HP:0100335	Non-midline cleft lip	2	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0410030	HP:0000161	Median cleft lip	2	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent		31
HP:0410030	HP:0000161	Median cleft lip	2	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0410030	HP:0000161	Median cleft lip	2	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0410030	HP:0000161	Median cleft lip	2	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		1
HP:0410030	HP:0000161	Median cleft lip	2	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0410030	HP:0100335	Non-midline cleft lip	2	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040282 - Frequent		12
HP:0410030	HP:0000161	Median cleft lip	2	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0410030	HP:0000161	Median cleft lip	2	TGIF1 CL E G H	7050	11776	OMIM:142946	Holoprosencephaly 4	.		32
HP:0410030	HP:0000161	Median cleft lip	2	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0410030	HP:0000161	Median cleft lip	2	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0410030	HP:0000161	Median cleft lip	2	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0410030	HP:0100335	Non-midline cleft lip	2	TP63 CL E G H	8626	15979	ORPHA:1072	Ankyloblepharon filiforme adnatum-cleft palate syndrome	HP:0040283 - Occasional		140
HP:0410030	HP:0100335	Non-midline cleft lip	2	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip	HP:0040282 - Frequent		140
HP:0410030	HP:0000161	Median cleft lip	2	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0410030	HP:0000161	Median cleft lip	2	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0410030	HP:0100335	Non-midline cleft lip	2	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral	HP:0040283 - Occasional
HP:0410030	HP:0100335	Non-midline cleft lip	2	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability			2
HP:0410030	HP:0000161	Median cleft lip	2	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0410030	HP:0000161	Median cleft lip	2	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0410030	HP:0000161	Median cleft lip	2	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		34
HP:0410030	HP:0000161	Median cleft lip	2	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0410030	HP:0000161	Median cleft lip	2	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040282 - Frequent		5
HP:0410030	HP:0100336	Bilateral cleft lip	3	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome			1003
HP:0410030	HP:0100336	Bilateral cleft lip	3	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2			3
HP:0410030	HP:0100336	Bilateral cleft lip	3	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0410030	HP:0100336	Bilateral cleft lip	3	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome
HP:0410030	HP:0100336	Bilateral cleft lip	3	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15			1
HP:0410030	HP:0008501	Median cleft lip and palate	3	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent		14
HP:0410030	HP:0008501	Median cleft lip and palate	3	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent		5
HP:0410030	HP:0008501	Median cleft lip and palate	3	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia	HP:0040281 - Very frequent		35
HP:0410030	HP:0008501	Median cleft lip and palate	3	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare
HP:0410030	HP:0008501	Median cleft lip and palate	3	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0410030	HP:0100333	Unilateral cleft lip	3	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0410030	HP:0008501	Median cleft lip and palate	3	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare		173
HP:0410030	HP:0100336	Bilateral cleft lip	3	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9			173
HP:0410030	HP:0034185	Median pseudocleft lip	3	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0410030	HP:0008501	Median cleft lip and palate	3	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare		21
HP:0410030	HP:0100333	Unilateral cleft lip	3	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus	HP:0040282 - Frequent		31
HP:0410030	HP:0100336	Bilateral cleft lip	3	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional		99
HP:0410030	HP:0100333	Unilateral cleft lip	3	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0410030	HP:0100333	Unilateral cleft lip	3	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus	HP:0040282 - Frequent		167
HP:0410030	HP:0008501	Median cleft lip and palate	3	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare		43
HP:0410030	HP:0100333	Unilateral cleft lip	3	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0410030	HP:0100336	Bilateral cleft lip	3	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0410030	HP:0100333	Unilateral cleft lip	3	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0410030	HP:0100336	Bilateral cleft lip	3	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional		12
HP:0410030	HP:0100336	Bilateral cleft lip	3	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0410030	HP:0100336	Bilateral cleft lip	3	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional		4
HP:0410030	HP:0008501	Median cleft lip and palate	3	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare		41
HP:0410030	HP:0008501	Median cleft lip and palate	3	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare		36
HP:0410030	HP:0008501	Median cleft lip and palate	3	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare		54
HP:0410030	HP:0008501	Median cleft lip and palate	3	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7			665
HP:0410030	HP:0100336	Bilateral cleft lip	3	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7			665
HP:0410030	HP:0100336	Bilateral cleft lip	3	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0410030	HP:0100336	Bilateral cleft lip	3	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2	.
HP:0410030	HP:0100336	Bilateral cleft lip	3	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2			32
HP:0410030	HP:0008501	Median cleft lip and palate	3	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2	.		32
HP:0410030	HP:0008501	Median cleft lip and palate	3	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040282 - Frequent		178
HP:0410030	HP:0100333	Unilateral cleft lip	3	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040283 - Occasional		504
HP:0410030	HP:0100336	Bilateral cleft lip	3	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0410030	HP:0100336	Bilateral cleft lip	3	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0410030	HP:0100333	Unilateral cleft lip	3	SUMO1 CL E G H	7341	12502	OMIM:613705	Orofacial cleft 10	.		8
HP:0410030	HP:0100333	Unilateral cleft lip	3	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0410030	HP:0008501	Median cleft lip and palate	3	TGIF1 CL E G H	7050	11776	OMIM:142946	Holoprosencephaly 4	.		32
HP:0410030	HP:0100336	Bilateral cleft lip	3	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional		140
HP:0410030	HP:0034185	Median pseudocleft lip	3	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0410030	HP:0008501	Median cleft lip and palate	3	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent		98
HP:0410030	HP:0100336	Bilateral cleft lip	3	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability			2
HP:0410030	HP:0002744	Bilateral cleft lip and palate	4	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040281 - Very frequent		1003
HP:0410030	HP:0002744	Bilateral cleft lip and palate	4	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2			3
HP:0410030	HP:0002744	Bilateral cleft lip and palate	4	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040281 - Very frequent
HP:0410030	HP:0002744	Bilateral cleft lip and palate	4	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9			173
HP:0410030	HP:0002744	Bilateral cleft lip and palate	4	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0410030	HP:0002744	Bilateral cleft lip and palate	4	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040281 - Very frequent		4
HP:0410030	HP:0002744	Bilateral cleft lip and palate	4	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7			665
HP:0410030	HP:0002744	Bilateral cleft lip and palate	4	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2			32
HP:0410030	HP:0002744	Bilateral cleft lip and palate	4	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0410030	HP:0002744	Bilateral cleft lip and palate	4	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability	HP:0040282 - Frequent		2

Genes (218) :ACTB ADA2 ALX3 ALX4 AMER1 ANKRD17 ARHGAP31 ASXL1 B3GALT6 B3GLCT BCOR BMP4 C2CD3 CC2D2A CCDC32 CDH1 CDON CEP120 CHD7 CHST14 CHUK CILK1 COLEC10 COLEC11 CPLANE1 CPLX1 CTBP1 CTNND1 CYP26C1 DDX3X DDX59 DEAF1 DHODH DISP1 DLL1 DLX4 DSE DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 EFNB1 EIF2S3 EPG5 ESCO2 EVC EVC2 FAM20C FBXO11 FGD1 FGF20 FGF8 FGFR1 FGFRL1 FKRP FKTN FLII FLNB FLRT3 FOXA2 FOXC2 FOXF1 FOXH1 FRAS1 FREM2 FZD2 GAS1 GATA1 GDF11 GFRA1 GJA1 GLI2 GLI3 GPC3 GPC4 GREB1L GRHL3 GRIP1 H4C3 HESX1 HOXD13 HYLS1 IFT57 IFT80 INTS1 INTU IQSEC2 IRF6 ITGA8 JUP KANSL1 KAT5 KATNIP KIF7 LARGE1 LETM1 LHX4 LMX1B MASP1 MED12 MEIS2 MEOX1 MID1 MSX1 MSX2 MTHFR MYL11 NAA10 NBN NECTIN1 NEK1 NELFA NIPBL NODAL NSD2 NSDHL NSMF NUAK2 NUP107 OCLN OFD1 OTX2 PAX3 PHF8 PHGDH PIGG PIGN PIGV PLCH1 POLR1B POLR1C POLR1D POMT1 POMT2 PORCN POU1F1 PROKR2 PROP1 PTCH1 PTCH2 RAB5IF RAI1 RERE RET RIC1 RIPK4 RPGRIP1L RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RSPO2 SEMA3E SF3B2 SF3B4 SHH SIX3 SLC29A3 SLC2A10 SMAD4 SMC1A SMCHD1 SMG9 SMO SMOC1 SMPD4 SPECC1L SPOP STAG2 STIL SUFU SUMO1 TAPT1 TBX2 TCOF1 TCTN2 TCTN3 TDGF1 TFAP2A TFE3 TGDS TGIF1 TMCO1 TP63 TRAPPC9 TRRAP TSR2 TXNL4A UBB VANGL2 VAX1 WDR35 WLS WNT3 WNT4 WNT5A WNT9B YAP1 ZIC2 ZSWIM6

Diseases (202) :OMIM:243310 OMIM:607371 ORPHA:124 OMIM:136760 ORPHA:60015 OMIM:300373 OMIM:619504 OMIM:100300 ORPHA:97297 OMIM:605039 ORPHA:2725 ORPHA:709 OMIM:261540 OMIM:309800 OMIM:600625 OMIM:615948 OMIM:612284 OMIM:619123 ORPHA:1997 OMIM:119580 OMIM:137215 ORPHA:93925 OMIM:614226 ORPHA:93924 ORPHA:93926 ORPHA:220386 OMIM:616300 OMIM:214800 ORPHA:138 OMIM:612370 ORPHA:2953 OMIM:619339 OMIM:612651 OMIM:248340 OMIM:265050 OMIM:277170 OMIM:194190 ORPHA:280 ORPHA:398189 OMIM:300958 ORPHA:2919 OMIM:174300 ORPHA:819 ORPHA:246 OMIM:263750 OMIM:616788 ORPHA:3107 OMIM:616894 OMIM:613091 ORPHA:93271 OMIM:617088 OMIM:304110 OMIM:300148 OMIM:242840 OMIM:216100 OMIM:268300 ORPHA:3103 OMIM:225500 ORPHA:1832 OMIM:618089 OMIM:305400 ORPHA:915 ORPHA:1848 OMIM:612702 ORPHA:2117 OMIM:615465 OMIM:147950 OMIM:236670 OMIM:150250 OMIM:615271 ORPHA:95494 ORPHA:33001 OMIM:153400 OMIM:265380 OMIM:219000 ORPHA:2052 OMIM:619122 ORPHA:2710 OMIM:164200 OMIM:615849 OMIM:610829 ORPHA:672 OMIM:146510 ORPHA:373 OMIM:312870 ORPHA:99771 ORPHA:888 OMIM:606713 OMIM:619758 ORPHA:887 ORPHA:2189 OMIM:236680 OMIM:617927 OMIM:618571 OMIM:617926 OMIM:617925 ORPHA:1300 ORPHA:199302 OMIM:608864 OMIM:119500 OMIM:119300 ORPHA:34217 OMIM:610443 OMIM:619103 OMIM:616784 OMIM:200990 OMIM:161200 OMIM:257920 OMIM:301068 OMIM:305450 OMIM:600987 OMIM:214300 ORPHA:2745 OMIM:300000 OMIM:608874 OMIM:168500 ORPHA:563609 OMIM:619110 ORPHA:647 OMIM:251260 OMIM:225060 ORPHA:3253 ORPHA:2751 OMIM:263520 OMIM:122470 OMIM:308050 OMIM:614838 OMIM:619452 OMIM:618348 OMIM:616730 OMIM:251290 OMIM:311200 ORPHA:2750 ORPHA:894 OMIM:300263 ORPHA:85287 OMIM:256520 ORPHA:2059 OMIM:239300 OMIM:619895 ORPHA:861 OMIM:613150 OMIM:305600 OMIM:244200 OMIM:109400 OMIM:610828 OMIM:616994 OMIM:616975 OMIM:618761 ORPHA:1234 OMIM:263650 OMIM:611561 OMIM:612561 OMIM:105650 OMIM:618021 OMIM:164210 OMIM:154400 ORPHA:245 OMIM:142945 OMIM:147250 OMIM:157170 ORPHA:168569 ORPHA:3342 OMIM:139210 ORPHA:2588 OMIM:603457 OMIM:616920 OMIM:241800 ORPHA:1106 OMIM:206920 OMIM:618622 OMIM:600251 OMIM:618829 OMIM:301043 OMIM:301022 OMIM:613705 OMIM:616897 OMIM:618223 OMIM:613885 ORPHA:2753 ORPHA:1297 OMIM:113620 OMIM:301066 OMIM:616145 OMIM:142946 ORPHA:1394 OMIM:213980 ORPHA:1072 OMIM:106260 ORPHA:69085 OMIM:129400 OMIM:613192 OMIM:618454 OMIM:608572 OMIM:614402 OMIM:619648 OMIM:273395 OMIM:611812 OMIM:120433 ORPHA:1473 OMIM:603671 ORPHA:1827

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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