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:
Spinal dysraphism (HP:0010301)

Parent Node:
Abnormal meningeal morphology (HP:0010651)

Parent Node:
Spina bifida (HP:0002414)

..Starting node
..Meningocele (HP:0002435)

Term ID:

2435

Name:

Meningocele

Synonym:

Definition:

Protrusion of the meninges through a defect of the skull or vertebral column.

Comments:

Reference:

HP:0002435

Genes and Diseases:

Child Nodes:

........

Occipital meningocele (HP:0002436)

................... HP:0007271 Occipital myelomeningocele

........

Myelomeningocele (HP:0002475)

................... HP:0025480 Lipomyelomeningocele
................... HP:0030708 Myeloschisis

........

Lipomeningocele (HP:0030710)

........

Frontoethmoidal meningocele (HP:0030729)

........

Parietal meningocele (HP:0030730)

Sister Nodes:

Cervical spina bifida (HP:0005857)

Spina bifida occulta (HP:0003298)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002435	HP:0002435	Meningocele	0	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina		132
HP:0002435	HP:0002435	Meningocele	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0002435	HP:0002435	Meningocele	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	1
HP:0002435	HP:0002435	Meningocele	0	B3GALNT2 CL E G H	148789	28596	ORPHA:588	Muscle-eye-brain disease	HP:0040283 - Occasional	43
HP:0002435	HP:0002435	Meningocele	0	BMPER CL E G H	168667	24154	ORPHA:66637	Diaphanospondylodysostosis		78
HP:0002435	HP:0002435	Meningocele	0	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to		3
HP:0002435	HP:0002435	Meningocele	0	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4	.	342
HP:0002435	HP:0002435	Meningocele	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0002435	HP:0002435	Meningocele	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	6
HP:0002435	HP:0002435	Meningocele	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0002435	HP:0002435	Meningocele	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0002435	HP:0002435	Meningocele	0	DACT1 CL E G H	51339	17748	ORPHA:63260	Craniorachischisis		2
HP:0002435	HP:0002435	Meningocele	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0002435	HP:0002435	Meningocele	0	FKRP CL E G H	79147	17997	ORPHA:588	Muscle-eye-brain disease	HP:0040283 - Occasional	157
HP:0002435	HP:0002435	Meningocele	0	FKTN CL E G H	2218	3622	ORPHA:588	Muscle-eye-brain disease	HP:0040283 - Occasional	184
HP:0002435	HP:0002435	Meningocele	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0002435	HP:0002435	Meningocele	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome		353
HP:0002435	HP:0002435	Meningocele	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0002435	HP:0002435	Meningocele	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome		263
HP:0002435	HP:0002435	Meningocele	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040283 - Occasional	3
HP:0002435	HP:0002435	Meningocele	0	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to		3
HP:0002435	HP:0002435	Meningocele	0	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia		68
HP:0002435	HP:0002435	Meningocele	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia		270
HP:0002435	HP:0002435	Meningocele	0	GMPPB CL E G H	29925	22932	ORPHA:588	Muscle-eye-brain disease	HP:0040283 - Occasional	34
HP:0002435	HP:0002435	Meningocele	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	8
HP:0002435	HP:0002435	Meningocele	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome		80
HP:0002435	HP:0002435	Meningocele	0	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia		4
HP:0002435	HP:0002435	Meningocele	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	10
HP:0002435	HP:0002435	Meningocele	0	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive		10
HP:0002435	HP:0002435	Meningocele	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	3
HP:0002435	HP:0002435	Meningocele	0	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia		9
HP:0002435	HP:0002435	Meningocele	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0002435	HP:0002435	Meningocele	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	2
HP:0002435	HP:0002435	Meningocele	0	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia		1
HP:0002435	HP:0002435	Meningocele	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0002435	HP:0002435	Meningocele	0	LARGE1 CL E G H	9215	6511	ORPHA:588	Muscle-eye-brain disease	HP:0040283 - Occasional	136
HP:0002435	HP:0002435	Meningocele	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	13
HP:0002435	HP:0002435	Meningocele	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0002435	HP:0002435	Meningocele	0	MSX2 CL E G H	4488	7392	ORPHA:60015	Enlarged parietal foramina		45
HP:0002435	HP:0002435	Meningocele	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.	144
HP:0002435	HP:0002435	Meningocele	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040281 - Very frequent	144
HP:0002435	HP:0002435	Meningocele	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I		201
HP:0002435	HP:0002435	Meningocele	0	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040283 - Occasional	59
HP:0002435	HP:0002435	Meningocele	0	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1		59
HP:0002435	HP:0002435	Meningocele	0	POMGNT1 CL E G H	55624	19139	ORPHA:588	Muscle-eye-brain disease	HP:0040283 - Occasional	180
HP:0002435	HP:0002435	Meningocele	0	POMT1 CL E G H	10585	9202	ORPHA:588	Muscle-eye-brain disease	HP:0040283 - Occasional	213
HP:0002435	HP:0002435	Meningocele	0	POMT2 CL E G H	29954	19743	ORPHA:588	Muscle-eye-brain disease	HP:0040283 - Occasional	221
HP:0002435	HP:0002435	Meningocele	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0002435	HP:0002435	Meningocele	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	3
HP:0002435	HP:0002435	Meningocele	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0002435	HP:0002435	Meningocele	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0002435	HP:0002435	Meningocele	0	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040282 - Frequent	80
HP:0002435	HP:0002435	Meningocele	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0002435	HP:0002435	Meningocele	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome		9
HP:0002435	HP:0002435	Meningocele	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22
HP:0002435	HP:0002435	Meningocele	0	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome	HP:0040283 - Occasional	6
HP:0002435	HP:0002435	Meningocele	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	32
HP:0002435	HP:0002435	Meningocele	0	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to
HP:0002435	HP:0002435	Meningocele	0	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2		45
HP:0002435	HP:0002435	Meningocele	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0002435	HP:0002435	Meningocele	0	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to		111
HP:0002435	HP:0002435	Meningocele	0	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele	.	111
HP:0002435	HP:0002435	Meningocele	0	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to		2
HP:0002435	HP:0002435	Meningocele	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040283 - Occasional	13
HP:0002435	HP:0002435	Meningocele	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0002435	HP:0002435	Meningocele	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0002435	HP:0002435	Meningocele	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040281 - Very frequent	5
HP:0002435	HP:0032478	Lateral spinal meningocele	1	CL E G H
HP:0002435	HP:0030730	Parietal meningocele	1	CL E G H
HP:0002435	HP:0030729	Frontoethmoidal meningocele	1	CL E G H
HP:0002435	HP:0030710	Lipomeningocele	1	CL E G H
HP:0002435	HP:0002475	Myelomeningocele	1	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina	HP:0040284 - Very rare	132
HP:0002435	HP:0002475	Myelomeningocele	1	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0002435	HP:0002436	Occipital meningocele	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0002435	HP:0002475	Myelomeningocele	1	BMPER CL E G H	168667	24154	ORPHA:66637	Diaphanospondylodysostosis	HP:0040281 - Very frequent	78
HP:0002435	HP:0002475	Myelomeningocele	1	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to	.	3
HP:0002435	HP:0002436	Occipital meningocele	1	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0002435	HP:0002436	Occipital meningocele	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0002435	HP:0002436	Occipital meningocele	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0002435	HP:0002475	Myelomeningocele	1	DACT1 CL E G H	51339	17748	ORPHA:63260	Craniorachischisis	HP:0040281 - Very frequent	2
HP:0002435	HP:0002475	Myelomeningocele	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040283 - Occasional	493
HP:0002435	HP:0002475	Myelomeningocele	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0002435	HP:0002475	Myelomeningocele	1	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	353
HP:0002435	HP:0002475	Myelomeningocele	1	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	263
HP:0002435	HP:0002475	Myelomeningocele	1	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040282 - Frequent	3
HP:0002435	HP:0002475	Myelomeningocele	1	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to	.	3
HP:0002435	HP:0002475	Myelomeningocele	1	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040284 - Very rare	270
HP:0002435	HP:0002436	Occipital meningocele	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0002435	HP:0002475	Myelomeningocele	1	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	80
HP:0002435	HP:0002475	Myelomeningocele	1	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia	HP:0040283 - Occasional	4
HP:0002435	HP:0002475	Myelomeningocele	1	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive	.	10
HP:0002435	HP:0002436	Occipital meningocele	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0002435	HP:0002475	Myelomeningocele	1	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia	HP:0040283 - Occasional	9
HP:0002435	HP:0002436	Occipital meningocele	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0002435	HP:0002436	Occipital meningocele	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0002435	HP:0002475	Myelomeningocele	1	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia	HP:0040283 - Occasional	1
HP:0002435	HP:0002475	Myelomeningocele	1	MSX2 CL E G H	4488	7392	ORPHA:60015	Enlarged parietal foramina	HP:0040284 - Very rare	45
HP:0002435	HP:0002475	Myelomeningocele	1	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	HP:0040283 - Occasional	201
HP:0002435	HP:0002475	Myelomeningocele	1	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	HP:0040283 - Occasional	59
HP:0002435	HP:0002475	Myelomeningocele	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0002435	HP:0002436	Occipital meningocele	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0002435	HP:0002475	Myelomeningocele	1	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0002435	HP:0002436	Occipital meningocele	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0002435	HP:0002475	Myelomeningocele	1	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040284 - Very rare	9
HP:0002435	HP:0002436	Occipital meningocele	1	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22
HP:0002435	HP:0002475	Myelomeningocele	1	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22
HP:0002435	HP:0002475	Myelomeningocele	1	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome	HP:0040283 - Occasional	6
HP:0002435	HP:0002436	Occipital meningocele	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0002435	HP:0002475	Myelomeningocele	1	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to	.
HP:0002435	HP:0002436	Occipital meningocele	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0002435	HP:0002475	Myelomeningocele	1	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to	.	111
HP:0002435	HP:0002475	Myelomeningocele	1	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele		111
HP:0002435	HP:0002475	Myelomeningocele	1	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to	.	2
HP:0002435	HP:0002436	Occipital meningocele	1	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency	HP:0040283 - Occasional	13
HP:0002435	HP:0002475	Myelomeningocele	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0002435	HP:0007271	Occipital myelomeningocele	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	1
HP:0002435	HP:0007271	Occipital myelomeningocele	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	6
HP:0002435	HP:0007271	Occipital myelomeningocele	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	8
HP:0002435	HP:0007271	Occipital myelomeningocele	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	3
HP:0002435	HP:0007271	Occipital myelomeningocele	2	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	HP:0040283 - Occasional	111
HP:0002435	HP:0007271	Occipital myelomeningocele	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	2
HP:0002435	HP:0007271	Occipital myelomeningocele	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0002435	HP:0007271	Occipital myelomeningocele	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0002435	HP:0025480	Lipomyelomeningocele	2	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22
HP:0002435	HP:0007271	Occipital myelomeningocele	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	32
HP:0002435	HP:0007271	Occipital myelomeningocele	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent

Genes (59) :ALX4 ARPC4 ARVCF B3GALNT2 BMPER CCL2 CEP290 COL18A1 COMT CPLANE1 CSPP1 DACT1 DLL3 FKRP FKTN FLNA FRAS1 FREM2 FUZ GJA1 GLI3 GMPPB GP1BB GRIP1 H19 HES7 HIRA IGF2 INPP5E JMJD1C KCNQ1OT1 KIAA0586 LARGE1 LFNG MESP2 MSX2 NOTCH3 OFD1 PAX3 POMGNT1 POMT1 POMT2 PORCN RIPPLY2 RREB1 SC5D SEC24C SIN3A SMO SNRPB TBX1 TBXT TMEM216 UFD1 VANGL1 VANGL2 WNT7A ZIC3 ZSWIM6

Diseases (38) :ORPHA:60015 OMIM:620141 ORPHA:567 ORPHA:588 ORPHA:66637 OMIM:182940 OMIM:611134 OMIM:267750 OMIM:277170 ORPHA:397715 ORPHA:63260 ORPHA:2311 ORPHA:90652 ORPHA:2052 OMIM:219000 ORPHA:1136 ORPHA:1010 ORPHA:93322 ORPHA:2128 OMIM:613686 OMIM:213300 OMIM:130720 ORPHA:2789 OMIM:311200 ORPHA:894 OMIM:193500 OMIM:305600 OMIM:607330 ORPHA:46059 ORPHA:94065 OMIM:601707 ORPHA:1393 OMIM:603194 OMIM:600145 ORPHA:2879 OMIM:276820 OMIM:306955 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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