Human Phenotype Ontology

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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 meningeal morphology (HP:0010651)

Grandparent Node:
Spina bifida (HP:0002414)

Parent Node:
Meningocele (HP:0002435)

..Starting node
..Myelomeningocele (HP:0002475)

Term ID:

2475

Name:

Myelomeningocele

Synonym:

Meningomyelocele; Spina bifida cystica

Definition:

Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.

Comments:

Reference:

HP:0002475

Genes and Diseases:

Child Nodes:

........

Lipomyelomeningocele (HP:0025480)

........

Myeloschisis (HP:0030708)

Sister Nodes:

Frontoethmoidal meningocele (HP:0030729)

Lipomeningocele (HP:0030710)

Occipital meningocele (HP:0002436)

Parietal meningocele (HP:0030730)

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:0002475	HP:0002475	Myelomeningocele	0	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina	HP:0040284 - Very rare	132
HP:0002475	HP:0002475	Myelomeningocele	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0002475	HP:0002475	Myelomeningocele	0	BMPER CL E G H	168667	24154	ORPHA:66637	Diaphanospondylodysostosis	HP:0040281 - Very frequent	78
HP:0002475	HP:0002475	Myelomeningocele	0	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to	.	3
HP:0002475	HP:0002475	Myelomeningocele	0	DACT1 CL E G H	51339	17748	ORPHA:63260	Craniorachischisis	HP:0040281 - Very frequent	2
HP:0002475	HP:0002475	Myelomeningocele	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040283 - Occasional	493
HP:0002475	HP:0002475	Myelomeningocele	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0002475	HP:0002475	Myelomeningocele	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	353
HP:0002475	HP:0002475	Myelomeningocele	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	263
HP:0002475	HP:0002475	Myelomeningocele	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040282 - Frequent	3
HP:0002475	HP:0002475	Myelomeningocele	0	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to	.	3
HP:0002475	HP:0002475	Myelomeningocele	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040284 - Very rare	270
HP:0002475	HP:0002475	Myelomeningocele	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	80
HP:0002475	HP:0002475	Myelomeningocele	0	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia	HP:0040283 - Occasional	4
HP:0002475	HP:0002475	Myelomeningocele	0	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive	.	10
HP:0002475	HP:0002475	Myelomeningocele	0	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia	HP:0040283 - Occasional	9
HP:0002475	HP:0002475	Myelomeningocele	0	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia	HP:0040283 - Occasional	1
HP:0002475	HP:0002475	Myelomeningocele	0	MSX2 CL E G H	4488	7392	ORPHA:60015	Enlarged parietal foramina	HP:0040284 - Very rare	45
HP:0002475	HP:0002475	Myelomeningocele	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	HP:0040283 - Occasional	201
HP:0002475	HP:0002475	Myelomeningocele	0	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	HP:0040283 - Occasional	59
HP:0002475	HP:0002475	Myelomeningocele	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0002475	HP:0002475	Myelomeningocele	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0002475	HP:0002475	Myelomeningocele	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040284 - Very rare	9
HP:0002475	HP:0002475	Myelomeningocele	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22
HP:0002475	HP:0002475	Myelomeningocele	0	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome	HP:0040283 - Occasional	6
HP:0002475	HP:0002475	Myelomeningocele	0	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to	.
HP:0002475	HP:0002475	Myelomeningocele	0	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to	.	111
HP:0002475	HP:0002475	Myelomeningocele	0	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele		111
HP:0002475	HP:0002475	Myelomeningocele	0	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to	.	2
HP:0002475	HP:0002475	Myelomeningocele	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0002475	HP:0025480	Lipomyelomeningocele	1	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22

Genes (27) :ALX4 ARPC4 BMPER CCL2 DACT1 FLNA FRAS1 FREM2 FUZ GLI3 GRIP1 H19 HES7 IGF2 KCNQ1OT1 MSX2 OFD1 PAX3 PORCN SC5D SIN3A SMO SNRPB TBXT VANGL1 VANGL2 ZIC3

Diseases (21) :ORPHA:60015 OMIM:620141 ORPHA:66637 OMIM:182940 ORPHA:63260 ORPHA:90652 OMIM:219000 ORPHA:2052 ORPHA:1136 ORPHA:93322 ORPHA:2128 OMIM:613686 OMIM:311200 OMIM:193500 OMIM:305600 OMIM:607330 ORPHA:94065 OMIM:601707 ORPHA:1393 OMIM:600145 OMIM:306955

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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