Human Phenotype Ontology

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:0002084	HP:0002084	Encephalocele	0	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		175
HP:0002084	HP:0002084	Encephalocele	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		175
HP:0002084	HP:0002084	Encephalocele	0	AIPL1 CL E G H	23746	359	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		114
HP:0002084	HP:0002084	Encephalocele	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0002084	HP:0002084	Encephalocele	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0002084	HP:0002084	Encephalocele	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent		9
HP:0002084	HP:0002084	Encephalocele	0	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina			132
HP:0002084	HP:0002084	Encephalocele	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2	.		132
HP:0002084	HP:0002084	Encephalocele	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040281 - Very frequent		132
HP:0002084	HP:0002084	Encephalocele	0	ALX4 CL E G H	60529	450	OMIM:609597	Parietal foramina 2	.		132
HP:0002084	HP:0002084	Encephalocele	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		147
HP:0002084	HP:0002084	Encephalocele	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.		147
HP:0002084	HP:0002084	Encephalocele	0	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		62
HP:0002084	HP:0002084	Encephalocele	0	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0002084	HP:0002084	Encephalocele	0	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		1
HP:0002084	HP:0002084	Encephalocele	0	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0002084	HP:0002084	Encephalocele	0	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13			17
HP:0002084	HP:0002084	Encephalocele	0	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		28
HP:0002084	HP:0002084	Encephalocele	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		28
HP:0002084	HP:0002084	Encephalocele	0	B9D1 CL E G H	27077	24123	OMIM:614209	Meckel syndrome, type 9			28
HP:0002084	HP:0002084	Encephalocele	0	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		34
HP:0002084	HP:0002084	Encephalocele	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		34
HP:0002084	HP:0002084	Encephalocele	0	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10			34
HP:0002084	HP:0002084	Encephalocele	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV			27
HP:0002084	HP:0002084	Encephalocele	0	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		1
HP:0002084	HP:0002084	Encephalocele	0	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9			247
HP:0002084	HP:0002084	Encephalocele	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0002084	HP:0002084	Encephalocele	0	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional		247
HP:0002084	HP:0002084	Encephalocele	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		247
HP:0002084	HP:0002084	Encephalocele	0	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6			247
HP:0002084	HP:0002084	Encephalocele	0	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly			200
HP:0002084	HP:0002084	Encephalocele	0	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		5
HP:0002084	HP:0002084	Encephalocele	0	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		7
HP:0002084	HP:0002084	Encephalocele	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		7
HP:0002084	HP:0002084	Encephalocele	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.		7
HP:0002084	HP:0002084	Encephalocele	0	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5			342
HP:0002084	HP:0002084	Encephalocele	0	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional		342
HP:0002084	HP:0002084	Encephalocele	0	CEP290 CL E G H	80184	29021	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		342
HP:0002084	HP:0002084	Encephalocele	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		342
HP:0002084	HP:0002084	Encephalocele	0	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4	.		342
HP:0002084	HP:0002084	Encephalocele	0	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		90
HP:0002084	HP:0002084	Encephalocele	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		90
HP:0002084	HP:0002084	Encephalocele	0	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome			177
HP:0002084	HP:0002084	Encephalocele	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0002084	HP:0002084	Encephalocele	0	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0002084	HP:0002084	Encephalocele	0	CRB1 CL E G H	23418	2343	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		156
HP:0002084	HP:0002084	Encephalocele	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0002084	HP:0002084	Encephalocele	0	CRX CL E G H	1406	2383	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		158
HP:0002084	HP:0002084	Encephalocele	0	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		57
HP:0002084	HP:0002084	Encephalocele	0	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21			57
HP:0002084	HP:0002084	Encephalocele	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0002084	HP:0002084	Encephalocele	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		57
HP:0002084	HP:0002084	Encephalocele	0	CYP26B1 CL E G H	56603	20581	OMIM:614416	RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES; RHFCA			4
HP:0002084	HP:0002084	Encephalocele	0	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly			22
HP:0002084	HP:0002084	Encephalocele	0	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly			3
HP:0002084	HP:0002084	Encephalocele	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		9
HP:0002084	HP:0002084	Encephalocele	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		18
HP:0002084	HP:0002084	Encephalocele	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		4
HP:0002084	HP:0002084	Encephalocele	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0002084	HP:0002084	Encephalocele	0	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly			17
HP:0002084	HP:0002084	Encephalocele	0	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome	HP:0040281 - Very frequent		172
HP:0002084	HP:0002084	Encephalocele	0	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2	HP:0040283 - Occasional		145
HP:0002084	HP:0002084	Encephalocele	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			157
HP:0002084	HP:0002084	Encephalocele	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0002084	HP:0002084	Encephalocele	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0002084	HP:0002084	Encephalocele	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.		184
HP:0002084	HP:0002084	Encephalocele	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040283 - Occasional		493
HP:0002084	HP:0002084	Encephalocele	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.		233
HP:0002084	HP:0002084	Encephalocele	0	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly			48
HP:0002084	HP:0002084	Encephalocele	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.		353
HP:0002084	HP:0002084	Encephalocele	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional		353
HP:0002084	HP:0002084	Encephalocele	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional		263
HP:0002084	HP:0002084	Encephalocele	0	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly			2
HP:0002084	HP:0002084	Encephalocele	0	GDF6 CL E G H	392255	4221	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		64
HP:0002084	HP:0002084	Encephalocele	0	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly			173
HP:0002084	HP:0002084	Encephalocele	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			34
HP:0002084	HP:0002084	Encephalocele	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional		80
HP:0002084	HP:0002084	Encephalocele	0	GUCY2D CL E G H	3000	4689	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		124
HP:0002084	HP:0002084	Encephalocele	0	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association			25
HP:0002084	HP:0002084	Encephalocele	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040283 - Occasional		345
HP:0002084	HP:0002084	Encephalocele	0	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		31
HP:0002084	HP:0002084	Encephalocele	0	IFT140 CL E G H	9742	29077	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		148
HP:0002084	HP:0002084	Encephalocele	0	IMPDH1 CL E G H	3614	6052	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		52
HP:0002084	HP:0002084	Encephalocele	0	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		111
HP:0002084	HP:0002084	Encephalocele	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0002084	HP:0002084	Encephalocele	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		111
HP:0002084	HP:0002084	Encephalocele	0	IQCB1 CL E G H	9657	28949	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		61
HP:0002084	HP:0002084	Encephalocele	0	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0002084	HP:0002084	Encephalocele	0	KCNJ13 CL E G H	3769	6259	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		42
HP:0002084	HP:0002084	Encephalocele	0	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		24
HP:0002084	HP:0002084	Encephalocele	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0002084	HP:0002084	Encephalocele	0	LAMB1 CL E G H	3912	6486	ORPHA:352682	Cobblestone lissencephaly without muscular or ocular involvement			71
HP:0002084	HP:0002084	Encephalocele	0	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5			71
HP:0002084	HP:0002084	Encephalocele	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0002084	HP:0002084	Encephalocele	0	LCA5 CL E G H	167691	31923	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		70
HP:0002084	HP:0002084	Encephalocele	0	LRAT CL E G H	9227	6685	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		62
HP:0002084	HP:0002084	Encephalocele	0	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		127
HP:0002084	HP:0002084	Encephalocele	0	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		127
HP:0002084	HP:0002084	Encephalocele	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		127
HP:0002084	HP:0002084	Encephalocele	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0002084	HP:0002084	Encephalocele	0	MSX2 CL E G H	4488	7392	ORPHA:60015	Enlarged parietal foramina			45
HP:0002084	HP:0002084	Encephalocele	0	MSX2 CL E G H	4488	7392	OMIM:168500	Parietal foramina	.		45
HP:0002084	HP:0002084	Encephalocele	0	NMNAT1 CL E G H	64802	17877	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		15
HP:0002084	HP:0002084	Encephalocele	0	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly			45
HP:0002084	HP:0002084	Encephalocele	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		452
HP:0002084	HP:0002084	Encephalocele	0	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional		85
HP:0002084	HP:0002084	Encephalocele	0	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0002084	HP:0002084	Encephalocele	0	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome
HP:0002084	HP:0002084	Encephalocele	0	PCYT1A CL E G H	5130	8754	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		11
HP:0002084	HP:0002084	Encephalocele	0	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		4
HP:0002084	HP:0002084	Encephalocele	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional
HP:0002084	HP:0002084	Encephalocele	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		38
HP:0002084	HP:0002084	Encephalocele	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		31
HP:0002084	HP:0002084	Encephalocele	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			180
HP:0002084	HP:0002084	Encephalocele	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			18
HP:0002084	HP:0002084	Encephalocele	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			213
HP:0002084	HP:0002084	Encephalocele	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0002084	HP:0002084	Encephalocele	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			221
HP:0002084	HP:0002084	Encephalocele	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0002084	HP:0002084	Encephalocele	0	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2	HP:0040283 - Occasional		221
HP:0002084	HP:0002084	Encephalocele	0	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly			665
HP:0002084	HP:0002084	Encephalocele	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		3
HP:0002084	HP:0002084	Encephalocele	0	RD3 CL E G H	343035	19689	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		95
HP:0002084	HP:0002084	Encephalocele	0	RDH12 CL E G H	145226	19977	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		45
HP:0002084	HP:0002084	Encephalocele	0	RPE65 CL E G H	6121	10294	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		129
HP:0002084	HP:0002084	Encephalocele	0	RPGRIP1 CL E G H	57096	13436	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		109
HP:0002084	HP:0002084	Encephalocele	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		109
HP:0002084	HP:0002084	Encephalocele	0	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7	.		167
HP:0002084	HP:0002084	Encephalocele	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0002084	HP:0002084	Encephalocele	0	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional		167
HP:0002084	HP:0002084	Encephalocele	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		167
HP:0002084	HP:0002084	Encephalocele	0	RPGRIP1L CL E G H	23322	29168	OMIM:611561	Meckel syndrome, type 5			167
HP:0002084	HP:0002084	Encephalocele	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0002084	HP:0002084	Encephalocele	0	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly			67
HP:0002084	HP:0002084	Encephalocele	0	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly			32
HP:0002084	HP:0002084	Encephalocele	0	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included			22
HP:0002084	HP:0002084	Encephalocele	0	SPATA7 CL E G H	55812	20423	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		48
HP:0002084	HP:0002084	Encephalocele	0	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly			99
HP:0002084	HP:0002084	Encephalocele	0	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		124
HP:0002084	HP:0002084	Encephalocele	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		140
HP:0002084	HP:0002084	Encephalocele	0	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		45
HP:0002084	HP:0002084	Encephalocele	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		45
HP:0002084	HP:0002084	Encephalocele	0	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		76
HP:0002084	HP:0002084	Encephalocele	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		76
HP:0002084	HP:0002084	Encephalocele	0	TCTN2 CL E G H	79867	25774	OMIM:613885	Meckel syndrome, type 8	.		76
HP:0002084	HP:0002084	Encephalocele	0	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18			31
HP:0002084	HP:0002084	Encephalocele	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		31
HP:0002084	HP:0002084	Encephalocele	0	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly			1
HP:0002084	HP:0002084	Encephalocele	0	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly			32
HP:0002084	HP:0002084	Encephalocele	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		4
HP:0002084	HP:0002084	Encephalocele	0	TMEM107 CL E G H	84314	28128	OMIM:617562	Meckel syndrome 13			4
HP:0002084	HP:0002084	Encephalocele	0	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16			39
HP:0002084	HP:0002084	Encephalocele	0	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional		39
HP:0002084	HP:0002084	Encephalocele	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.		45
HP:0002084	HP:0002084	Encephalocele	0	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional		45
HP:0002084	HP:0002084	Encephalocele	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		45
HP:0002084	HP:0002084	Encephalocele	0	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2			45
HP:0002084	HP:0002084	Encephalocele	0	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0002084	HP:0002084	Encephalocele	0	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0002084	HP:0002084	Encephalocele	0	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional		33
HP:0002084	HP:0002084	Encephalocele	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		33
HP:0002084	HP:0002084	Encephalocele	0	TMEM231 CL E G H	79583	37234	OMIM:615397	Meckel syndrome, type 11			33
HP:0002084	HP:0002084	Encephalocele	0	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		82
HP:0002084	HP:0002084	Encephalocele	0	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.		82
HP:0002084	HP:0002084	Encephalocele	0	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional		82
HP:0002084	HP:0002084	Encephalocele	0	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional		82
HP:0002084	HP:0002084	Encephalocele	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		82
HP:0002084	HP:0002084	Encephalocele	0	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0002084	HP:0002084	Encephalocele	0	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		166
HP:0002084	HP:0002084	Encephalocele	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0002084	HP:0002084	Encephalocele	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		166
HP:0002084	HP:0002084	Encephalocele	0	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3			166
HP:0002084	HP:0002084	Encephalocele	0	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8			5
HP:0002084	HP:0002084	Encephalocele	0	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0002084	HP:0002084	Encephalocele	0	TUBB4B CL E G H	10383	20771	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent
HP:0002084	HP:0002084	Encephalocele	0	TULP1 CL E G H	7287	12423	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		66
HP:0002084	HP:0002084	Encephalocele	0	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0002084	HP:0002084	Encephalocele	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		2
HP:0002084	HP:0002084	Encephalocele	0	USP45 CL E G H	85015	20080	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent
HP:0002084	HP:0002084	Encephalocele	0	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome			47
HP:0002084	HP:0002084	Encephalocele	0	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly			34
HP:0002084	HP:0002084	Encephalocele	0	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional		49
HP:0002084	HP:0002084	Encephalocele	0	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis	.		5
HP:0002084	HP:0002084	Encephalocele	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040281 - Very frequent		5
HP:0002084	HP:0011816	Parietal encephalocele	1	CL E G H
HP:0002084	HP:0007115	Orbital encephalocele	1	CL E G H
HP:0002084	HP:0007035	Anterior encephalocele	1	CL E G H
HP:0002084	HP:0004423	Cranium bifidum occultum	1	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040283 - Occasional		5
HP:0002084	HP:0004423	Cranium bifidum occultum	1	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.		9
HP:0002084	HP:0006992	Anterior basal encephalocele	1	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.		9
HP:0002084	HP:0004423	Cranium bifidum occultum	1	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent		9
HP:0002084	HP:0011817	Basal encephalocele	1	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent		9
HP:0002084	HP:0002085	Occipital encephalocele	1	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina	HP:0040284 - Very rare		132
HP:0002084	HP:0002085	Occipital encephalocele	1	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0002084	HP:0002085	Occipital encephalocele	1	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13	.		17
HP:0002084	HP:0002085	Occipital encephalocele	1	B9D1 CL E G H	27077	24123	OMIM:614209	Meckel syndrome, type 9	.		28
HP:0002084	HP:0002085	Occipital encephalocele	1	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10	.		34
HP:0002084	HP:0002085	Occipital encephalocele	1	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.		27
HP:0002084	HP:0002085	Occipital encephalocele	1	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		247
HP:0002084	HP:0002085	Occipital encephalocele	1	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6	HP:0040280 - Obligate	HP:0003577 - Congenital onset	247
HP:0002084	HP:0011817	Basal encephalocele	1	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly			200
HP:0002084	HP:0002085	Occipital encephalocele	1	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5			342
HP:0002084	HP:0002085	Occipital encephalocele	1	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome	HP:0040281 - Very frequent		177
HP:0002084	HP:0002085	Occipital encephalocele	1	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1	.		177
HP:0002084	HP:0002085	Occipital encephalocele	1	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21	HP:0040283 - Occasional		57
HP:0002084	HP:0002085	Occipital encephalocele	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		57
HP:0002084	HP:0002085	Occipital encephalocele	1	CYP26B1 CL E G H	56603	20581	OMIM:614416	RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES; RHFCA			4
HP:0002084	HP:0011817	Basal encephalocele	1	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly			22
HP:0002084	HP:0011817	Basal encephalocele	1	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly			3
HP:0002084	HP:0007330	Frontal encephalocele	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.		92
HP:0002084	HP:0011817	Basal encephalocele	1	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly			17
HP:0002084	HP:0002085	Occipital encephalocele	1	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		157
HP:0002084	HP:0006888	Meningoencephalocele	1	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0002084	HP:0002085	Occipital encephalocele	1	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		157
HP:0002084	HP:0002085	Occipital encephalocele	1	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		184
HP:0002084	HP:0006888	Meningoencephalocele	1	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0002084	HP:0011817	Basal encephalocele	1	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly			48
HP:0002084	HP:0011817	Basal encephalocele	1	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly			2
HP:0002084	HP:0011817	Basal encephalocele	1	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly			173
HP:0002084	HP:0002085	Occipital encephalocele	1	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		34
HP:0002084	HP:0002085	Occipital encephalocele	1	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040283 - Occasional		25
HP:0002084	HP:0002085	Occipital encephalocele	1	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		111
HP:0002084	HP:0002085	Occipital encephalocele	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		24
HP:0002084	HP:0002085	Occipital encephalocele	1	LAMB1 CL E G H	3912	6486	ORPHA:352682	Cobblestone lissencephaly without muscular or ocular involvement	HP:0040282 - Frequent		71
HP:0002084	HP:0002085	Occipital encephalocele	1	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5			71
HP:0002084	HP:0002085	Occipital encephalocele	1	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		136
HP:0002084	HP:0006888	Meningoencephalocele	1	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0002084	HP:0002085	Occipital encephalocele	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0002084	HP:0002085	Occipital encephalocele	1	MSX2 CL E G H	4488	7392	ORPHA:60015	Enlarged parietal foramina	HP:0040284 - Very rare		45
HP:0002084	HP:0011817	Basal encephalocele	1	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly			45
HP:0002084	HP:0002085	Occipital encephalocele	1	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome	HP:0040281 - Very frequent
HP:0002084	HP:0002085	Occipital encephalocele	1	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		180
HP:0002084	HP:0002085	Occipital encephalocele	1	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		18
HP:0002084	HP:0002085	Occipital encephalocele	1	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		213
HP:0002084	HP:0002085	Occipital encephalocele	1	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		213
HP:0002084	HP:0006888	Meningoencephalocele	1	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0002084	HP:0002085	Occipital encephalocele	1	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		221
HP:0002084	HP:0002085	Occipital encephalocele	1	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		221
HP:0002084	HP:0006888	Meningoencephalocele	1	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0002084	HP:0011817	Basal encephalocele	1	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly			665
HP:0002084	HP:0002085	Occipital encephalocele	1	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		167
HP:0002084	HP:0002085	Occipital encephalocele	1	RPGRIP1L CL E G H	23322	29168	OMIM:611561	Meckel syndrome, type 5	.		167
HP:0002084	HP:0002085	Occipital encephalocele	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.		2
HP:0002084	HP:0011817	Basal encephalocele	1	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly			67
HP:0002084	HP:0011817	Basal encephalocele	1	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly			32
HP:0002084	HP:0002085	Occipital encephalocele	1	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included	.		22
HP:0002084	HP:0011817	Basal encephalocele	1	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly			99
HP:0002084	HP:0002085	Occipital encephalocele	1	TCTN2 CL E G H	79867	25774	OMIM:613885	Meckel syndrome, type 8			76
HP:0002084	HP:0002085	Occipital encephalocele	1	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18			31
HP:0002084	HP:0011817	Basal encephalocele	1	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly			1
HP:0002084	HP:0011817	Basal encephalocele	1	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly			32
HP:0002084	HP:0002085	Occipital encephalocele	1	TMEM107 CL E G H	84314	28128	OMIM:617562	Meckel syndrome 13	.		4
HP:0002084	HP:0002085	Occipital encephalocele	1	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0002084	HP:0002085	Occipital encephalocele	1	TMEM231 CL E G H	79583	37234	OMIM:615397	Meckel syndrome, type 11	.		33
HP:0002084	HP:0002085	Occipital encephalocele	1	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1	.		166
HP:0002084	HP:0002085	Occipital encephalocele	1	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		166
HP:0002084	HP:0002085	Occipital encephalocele	1	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3			166
HP:0002084	HP:0002085	Occipital encephalocele	1	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8	HP:0040283 - Occasional		5
HP:0002084	HP:0002085	Occipital encephalocele	1	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0002084	HP:0007330	Frontal encephalocele	1	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome			47
HP:0002084	HP:0011817	Basal encephalocele	1	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly			34
HP:0002084	HP:0004478	Ethmoidal encephalocele	2	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		200
HP:0002084	HP:0004478	Ethmoidal encephalocele	2	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		22
HP:0002084	HP:0004478	Ethmoidal encephalocele	2	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		3
HP:0002084	HP:0004478	Ethmoidal encephalocele	2	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		17
HP:0002084	HP:0004478	Ethmoidal encephalocele	2	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		48
HP:0002084	HP:0004478	Ethmoidal encephalocele	2	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		2
HP:0002084	HP:0004478	Ethmoidal encephalocele	2	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		173
HP:0002084	HP:0004478	Ethmoidal encephalocele	2	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		45
HP:0002084	HP:0004478	Ethmoidal encephalocele	2	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		665
HP:0002084	HP:0004478	Ethmoidal encephalocele	2	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		67
HP:0002084	HP:0004478	Ethmoidal encephalocele	2	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		32
HP:0002084	HP:0004478	Ethmoidal encephalocele	2	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		99
HP:0002084	HP:0004478	Ethmoidal encephalocele	2	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		1
HP:0002084	HP:0004478	Ethmoidal encephalocele	2	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		32
HP:0002084	HP:0011818	Nasofrontal encephalocele	2	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome			47
HP:0002084	HP:0004478	Ethmoidal encephalocele	2	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		34