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 neural tube morphology (HP:0410043)

Parent Node:
Abnormality of the spinal cord (HP:0002143)

Parent Node:
Neural tube defect (HP:0045005)

..Starting node
..Spinal dysraphism (HP:0010301)

Term ID:

10301

Name:

Spinal dysraphism

Synonym:

Incomplete closure of the vertebral arch

Definition:

A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.

Comments:

Reference:

HP:0010301

Genes and Diseases:

Child Nodes:

........

Spina bifida (HP:0002414)

................... HP:0002435 Meningocele
................... HP:0003298 Spina bifida occulta
................... HP:0005857 Cervical spina bifida

Sister Nodes:

Craniorachischisis (HP:0030770)

Exencephaly (HP:0030769)

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:0010301	HP:0010301	Spinal dysraphism	0	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome		72
HP:0010301	HP:0010301	Spinal dysraphism	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0010301	HP:0010301	Spinal dysraphism	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome		34
HP:0010301	HP:0010301	Spinal dysraphism	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0010301	HP:0010301	Spinal dysraphism	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0010301	HP:0010301	Spinal dysraphism	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0010301	HP:0010301	Spinal dysraphism	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0010301	HP:0010301	Spinal dysraphism	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0010301	HP:0010301	Spinal dysraphism	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0010301	HP:0010301	Spinal dysraphism	0	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies		13
HP:0010301	HP:0010301	Spinal dysraphism	0	BMS1 CL E G H	9790	23505	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent	1
HP:0010301	HP:0010301	Spinal dysraphism	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines		276
HP:0010301	HP:0010301	Spinal dysraphism	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0010301	HP:0010301	Spinal dysraphism	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0010301	HP:0010301	Spinal dysraphism	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0010301	HP:0010301	Spinal dysraphism	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0010301	HP:0010301	Spinal dysraphism	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome		147
HP:0010301	HP:0010301	Spinal dysraphism	0	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to		3
HP:0010301	HP:0010301	Spinal dysraphism	0	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations		7
HP:0010301	HP:0010301	Spinal dysraphism	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0010301	HP:0010301	Spinal dysraphism	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome		35
HP:0010301	HP:0010301	Spinal dysraphism	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		68
HP:0010301	HP:0010301	Spinal dysraphism	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0010301	HP:0010301	Spinal dysraphism	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0010301	HP:0010301	Spinal dysraphism	0	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome		3
HP:0010301	HP:0010301	Spinal dysraphism	0	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome		9
HP:0010301	HP:0010301	Spinal dysraphism	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0010301	HP:0010301	Spinal dysraphism	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0010301	HP:0010301	Spinal dysraphism	0	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1		127
HP:0010301	HP:0010301	Spinal dysraphism	0	DACT1 CL E G H	51339	17748	ORPHA:63260	Craniorachischisis	HP:0040281 - Very frequent	2
HP:0010301	HP:0010301	Spinal dysraphism	0	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2		2
HP:0010301	HP:0010301	Spinal dysraphism	0	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0010301	HP:0010301	Spinal dysraphism	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0010301	HP:0010301	Spinal dysraphism	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0010301	HP:0010301	Spinal dysraphism	0	DLL4 CL E G H	54567	2910	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent	9
HP:0010301	HP:0010301	Spinal dysraphism	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0010301	HP:0010301	Spinal dysraphism	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0010301	HP:0010301	Spinal dysraphism	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0010301	HP:0010301	Spinal dysraphism	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0010301	HP:0010301	Spinal dysraphism	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0010301	HP:0010301	Spinal dysraphism	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0010301	HP:0010301	Spinal dysraphism	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0010301	HP:0010301	Spinal dysraphism	0	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus		58
HP:0010301	HP:0010301	Spinal dysraphism	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0010301	HP:0010301	Spinal dysraphism	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0010301	HP:0010301	Spinal dysraphism	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0010301	HP:0010301	Spinal dysraphism	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0010301	HP:0010301	Spinal dysraphism	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0010301	HP:0010301	Spinal dysraphism	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0010301	HP:0010301	Spinal dysraphism	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0010301	HP:0010301	Spinal dysraphism	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0010301	HP:0010301	Spinal dysraphism	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome		2
HP:0010301	HP:0010301	Spinal dysraphism	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0010301	HP:0010301	Spinal dysraphism	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome		8
HP:0010301	HP:0010301	Spinal dysraphism	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0010301	HP:0010301	Spinal dysraphism	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome		233
HP:0010301	HP:0010301	Spinal dysraphism	0	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to		3
HP:0010301	HP:0010301	Spinal dysraphism	0	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome		7
HP:0010301	HP:0010301	Spinal dysraphism	0	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome		64
HP:0010301	HP:0010301	Spinal dysraphism	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0010301	HP:0010301	Spinal dysraphism	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0010301	HP:0010301	Spinal dysraphism	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0010301	HP:0010301	Spinal dysraphism	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0010301	HP:0010301	Spinal dysraphism	0	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1	.	2
HP:0010301	HP:0010301	Spinal dysraphism	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		10
HP:0010301	HP:0010301	Spinal dysraphism	0	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive		10
HP:0010301	HP:0010301	Spinal dysraphism	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0010301	HP:0010301	Spinal dysraphism	0	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0010301	HP:0010301	Spinal dysraphism	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0010301	HP:0010301	Spinal dysraphism	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0010301	HP:0010301	Spinal dysraphism	0	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome		99
HP:0010301	HP:0010301	Spinal dysraphism	0	ITGB4 CL E G H	3691	6158	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent	124
HP:0010301	HP:0010301	Spinal dysraphism	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0010301	HP:0010301	Spinal dysraphism	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0010301	HP:0010301	Spinal dysraphism	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0010301	HP:0010301	Spinal dysraphism	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0010301	HP:0010301	Spinal dysraphism	0	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	.	14
HP:0010301	HP:0010301	Spinal dysraphism	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		13
HP:0010301	HP:0010301	Spinal dysraphism	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0010301	HP:0010301	Spinal dysraphism	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0010301	HP:0010301	Spinal dysraphism	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0010301	HP:0010301	Spinal dysraphism	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0010301	HP:0010301	Spinal dysraphism	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome		63
HP:0010301	HP:0010301	Spinal dysraphism	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0010301	HP:0010301	Spinal dysraphism	0	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome		21
HP:0010301	HP:0010301	Spinal dysraphism	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1		21
HP:0010301	HP:0010301	Spinal dysraphism	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0010301	HP:0010301	Spinal dysraphism	0	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome		5
HP:0010301	HP:0010301	Spinal dysraphism	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0010301	HP:0010301	Spinal dysraphism	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0010301	HP:0010301	Spinal dysraphism	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0010301	HP:0010301	Spinal dysraphism	0	MTHFD1 CL E G H	4522	7432	OMIM:601634	Neural tube defects, folate-sensitive	.	5
HP:0010301	HP:0010301	Spinal dysraphism	0	MTHFR CL E G H	4524	7436	OMIM:601634	Neural tube defects, folate-sensitive	.	183
HP:0010301	HP:0010301	Spinal dysraphism	0	MTR CL E G H	4548	7468	OMIM:601634	Neural tube defects, folate-sensitive	.	217
HP:0010301	HP:0010301	Spinal dysraphism	0	MTRR CL E G H	4552	7473	OMIM:601634	Neural tube defects, folate-sensitive	.	88
HP:0010301	HP:0010301	Spinal dysraphism	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A		166
HP:0010301	HP:0010301	Spinal dysraphism	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		166
HP:0010301	HP:0010301	Spinal dysraphism	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0010301	HP:0010301	Spinal dysraphism	0	NEK9 CL E G H	91754	18591	ORPHA:64754	Nevus comedonicus syndrome		9
HP:0010301	HP:0010301	Spinal dysraphism	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0010301	HP:0010301	Spinal dysraphism	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:2289	Neuronal intranuclear inclusion disease
HP:0010301	HP:0010301	Spinal dysraphism	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0010301	HP:0010301	Spinal dysraphism	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0010301	HP:0010301	Spinal dysraphism	0	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1		59
HP:0010301	HP:0010301	Spinal dysraphism	0	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1		59
HP:0010301	HP:0010301	Spinal dysraphism	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0010301	HP:0010301	Spinal dysraphism	0	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	HP:0040283 - Occasional	162
HP:0010301	HP:0010301	Spinal dysraphism	0	PLEC CL E G H	5339	9069	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent	759
HP:0010301	HP:0010301	Spinal dysraphism	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0010301	HP:0010301	Spinal dysraphism	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0010301	HP:0010301	Spinal dysraphism	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia		20
HP:0010301	HP:0010301	Spinal dysraphism	0	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2		27
HP:0010301	HP:0010301	Spinal dysraphism	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0010301	HP:0010301	Spinal dysraphism	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0010301	HP:0010301	Spinal dysraphism	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1		291
HP:0010301	HP:0010301	Spinal dysraphism	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines		291
HP:0010301	HP:0010301	Spinal dysraphism	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0010301	HP:0010301	Spinal dysraphism	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome		19
HP:0010301	HP:0010301	Spinal dysraphism	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0010301	HP:0010301	Spinal dysraphism	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0010301	HP:0010301	Spinal dysraphism	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0010301	HP:0010301	Spinal dysraphism	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines		212
HP:0010301	HP:0010301	Spinal dysraphism	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0010301	HP:0010301	Spinal dysraphism	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0010301	HP:0010301	Spinal dysraphism	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0010301	HP:0010301	Spinal dysraphism	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0010301	HP:0010301	Spinal dysraphism	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		3
HP:0010301	HP:0010301	Spinal dysraphism	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent	37
HP:0010301	HP:0010301	Spinal dysraphism	0	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA		1
HP:0010301	HP:0010301	Spinal dysraphism	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0010301	HP:0010301	Spinal dysraphism	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0010301	HP:0010301	Spinal dysraphism	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia		90
HP:0010301	HP:0010301	Spinal dysraphism	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome		86
HP:0010301	HP:0010301	Spinal dysraphism	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0010301	HP:0010301	Spinal dysraphism	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0010301	HP:0010301	Spinal dysraphism	0	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly		36
HP:0010301	HP:0010301	Spinal dysraphism	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0010301	HP:0010301	Spinal dysraphism	0	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome		6
HP:0010301	HP:0010301	Spinal dysraphism	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0010301	HP:0010301	Spinal dysraphism	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0010301	HP:0010301	Spinal dysraphism	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0010301	HP:0010301	Spinal dysraphism	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0010301	HP:0010301	Spinal dysraphism	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0010301	HP:0010301	Spinal dysraphism	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0010301	HP:0010301	Spinal dysraphism	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0010301	HP:0010301	Spinal dysraphism	0	TBX6 CL E G H	6911	11605	ORPHA:1797	Autosomal dominant spondylocostal dysostosis		19
HP:0010301	HP:0010301	Spinal dysraphism	0	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to
HP:0010301	HP:0010301	Spinal dysraphism	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0010301	HP:0010301	Spinal dysraphism	0	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1		134
HP:0010301	HP:0010301	Spinal dysraphism	0	TRIM36 CL E G H	55521	16280	OMIM:206500	ANENCEPHALY; ANPH		1
HP:0010301	HP:0010301	Spinal dysraphism	0	UBA2 CL E G H	10054	30661	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent
HP:0010301	HP:0010301	Spinal dysraphism	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0010301	HP:0010301	Spinal dysraphism	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0010301	HP:0010301	Spinal dysraphism	0	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to		111
HP:0010301	HP:0010301	Spinal dysraphism	0	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele		111
HP:0010301	HP:0010301	Spinal dysraphism	0	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to		2
HP:0010301	HP:0010301	Spinal dysraphism	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0010301	HP:0010301	Spinal dysraphism	0	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0010301	HP:0010301	Spinal dysraphism	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0010301	HP:0010301	Spinal dysraphism	0	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6		5
HP:0010301	HP:0010301	Spinal dysraphism	0	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0010301	HP:0002414	Spina bifida	1	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome		72
HP:0010301	HP:0002414	Spina bifida	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0010301	HP:0002414	Spina bifida	1	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome		34
HP:0010301	HP:0002414	Spina bifida	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0010301	HP:0002414	Spina bifida	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0010301	HP:0002414	Spina bifida	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0010301	HP:0002414	Spina bifida	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0010301	HP:0002414	Spina bifida	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0010301	HP:0002414	Spina bifida	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0010301	HP:0002414	Spina bifida	1	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies		13
HP:0010301	HP:0002414	Spina bifida	1	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines		276
HP:0010301	HP:0002414	Spina bifida	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0010301	HP:0002414	Spina bifida	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0010301	HP:0002414	Spina bifida	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0010301	HP:0002414	Spina bifida	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0010301	HP:0002414	Spina bifida	1	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome		147
HP:0010301	HP:0002414	Spina bifida	1	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to		3
HP:0010301	HP:0002414	Spina bifida	1	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations		7
HP:0010301	HP:0002414	Spina bifida	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0010301	HP:0002414	Spina bifida	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome		35
HP:0010301	HP:0002414	Spina bifida	1	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		68
HP:0010301	HP:0002414	Spina bifida	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0010301	HP:0002414	Spina bifida	1	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0010301	HP:0002414	Spina bifida	1	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome		3
HP:0010301	HP:0002414	Spina bifida	1	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome		9
HP:0010301	HP:0002414	Spina bifida	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0010301	HP:0002414	Spina bifida	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0010301	HP:0002414	Spina bifida	1	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1		127
HP:0010301	HP:0002414	Spina bifida	1	DACT1 CL E G H	51339	17748	ORPHA:63260	Craniorachischisis		2
HP:0010301	HP:0002414	Spina bifida	1	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2		2
HP:0010301	HP:0002414	Spina bifida	1	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0010301	HP:0002414	Spina bifida	1	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0010301	HP:0002414	Spina bifida	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0010301	HP:0002414	Spina bifida	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0010301	HP:0002414	Spina bifida	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0010301	HP:0002414	Spina bifida	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0010301	HP:0002414	Spina bifida	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0010301	HP:0002414	Spina bifida	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0010301	HP:0002414	Spina bifida	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0010301	HP:0002414	Spina bifida	1	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040283 - Occasional	58
HP:0010301	HP:0002414	Spina bifida	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0010301	HP:0002414	Spina bifida	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0010301	HP:0002414	Spina bifida	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0010301	HP:0002414	Spina bifida	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0010301	HP:0002414	Spina bifida	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0010301	HP:0002414	Spina bifida	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0010301	HP:0002414	Spina bifida	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0010301	HP:0002414	Spina bifida	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0010301	HP:0002414	Spina bifida	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome		2
HP:0010301	HP:0002414	Spina bifida	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0010301	HP:0002414	Spina bifida	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040283 - Occasional	8
HP:0010301	HP:0002414	Spina bifida	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0010301	HP:0002414	Spina bifida	1	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome		233
HP:0010301	HP:0002414	Spina bifida	1	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to		3
HP:0010301	HP:0002414	Spina bifida	1	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040283 - Occasional	7
HP:0010301	HP:0002414	Spina bifida	1	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040283 - Occasional	64
HP:0010301	HP:0002414	Spina bifida	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0010301	HP:0002414	Spina bifida	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0010301	HP:0002414	Spina bifida	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0010301	HP:0002414	Spina bifida	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0010301	HP:0002414	Spina bifida	1	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		10
HP:0010301	HP:0002414	Spina bifida	1	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive		10
HP:0010301	HP:0002414	Spina bifida	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0010301	HP:0002414	Spina bifida	1	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0010301	HP:0002414	Spina bifida	1	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0010301	HP:0002414	Spina bifida	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0010301	HP:0002414	Spina bifida	1	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome		99
HP:0010301	HP:0002414	Spina bifida	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0010301	HP:0002414	Spina bifida	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0010301	HP:0002414	Spina bifida	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0010301	HP:0002414	Spina bifida	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0010301	HP:0002414	Spina bifida	1	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		13
HP:0010301	HP:0002414	Spina bifida	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0010301	HP:0002414	Spina bifida	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0010301	HP:0002414	Spina bifida	1	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.	165
HP:0010301	HP:0002414	Spina bifida	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0010301	HP:0002414	Spina bifida	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome		63
HP:0010301	HP:0002414	Spina bifida	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0010301	HP:0002414	Spina bifida	1	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome		21
HP:0010301	HP:0002414	Spina bifida	1	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1		21
HP:0010301	HP:0002414	Spina bifida	1	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040283 - Occasional	5
HP:0010301	HP:0002414	Spina bifida	1	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0010301	HP:0002414	Spina bifida	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0010301	HP:0002414	Spina bifida	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0010301	HP:0002414	Spina bifida	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A		166
HP:0010301	HP:0002414	Spina bifida	1	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		166
HP:0010301	HP:0002414	Spina bifida	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0010301	HP:0002414	Spina bifida	1	NEK9 CL E G H	91754	18591	ORPHA:64754	Nevus comedonicus syndrome	HP:0040283 - Occasional	9
HP:0010301	HP:0002414	Spina bifida	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0010301	HP:0002414	Spina bifida	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:2289	Neuronal intranuclear inclusion disease
HP:0010301	HP:0002414	Spina bifida	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0010301	HP:0002414	Spina bifida	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0010301	HP:0002414	Spina bifida	1	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040283 - Occasional	59
HP:0010301	HP:0002414	Spina bifida	1	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	.	59
HP:0010301	HP:0002414	Spina bifida	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0010301	HP:0002414	Spina bifida	1	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0010301	HP:0002414	Spina bifida	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0010301	HP:0002414	Spina bifida	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040282 - Frequent	20
HP:0010301	HP:0002414	Spina bifida	1	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2		27
HP:0010301	HP:0002414	Spina bifida	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0010301	HP:0002414	Spina bifida	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0010301	HP:0002414	Spina bifida	1	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1		291
HP:0010301	HP:0002414	Spina bifida	1	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines		291
HP:0010301	HP:0002414	Spina bifida	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0010301	HP:0002414	Spina bifida	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0010301	HP:0002414	Spina bifida	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0010301	HP:0002414	Spina bifida	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0010301	HP:0002414	Spina bifida	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0010301	HP:0002414	Spina bifida	1	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines		212
HP:0010301	HP:0002414	Spina bifida	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome	.	10
HP:0010301	HP:0002414	Spina bifida	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0010301	HP:0002414	Spina bifida	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0010301	HP:0002414	Spina bifida	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0010301	HP:0002414	Spina bifida	1	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		3
HP:0010301	HP:0002414	Spina bifida	1	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA		1
HP:0010301	HP:0002414	Spina bifida	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0010301	HP:0002414	Spina bifida	1	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia		90
HP:0010301	HP:0002414	Spina bifida	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome		86
HP:0010301	HP:0002414	Spina bifida	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0010301	HP:0002414	Spina bifida	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0010301	HP:0002414	Spina bifida	1	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly	HP:0040282 - Frequent	36
HP:0010301	HP:0002414	Spina bifida	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0010301	HP:0002414	Spina bifida	1	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome	HP:0040283 - Occasional	6
HP:0010301	HP:0002414	Spina bifida	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0010301	HP:0002414	Spina bifida	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0010301	HP:0002414	Spina bifida	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0010301	HP:0002414	Spina bifida	1	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0010301	HP:0002414	Spina bifida	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0010301	HP:0002414	Spina bifida	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0010301	HP:0002414	Spina bifida	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0010301	HP:0002414	Spina bifida	1	TBX6 CL E G H	6911	11605	ORPHA:1797	Autosomal dominant spondylocostal dysostosis		19
HP:0010301	HP:0002414	Spina bifida	1	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to
HP:0010301	HP:0002414	Spina bifida	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0010301	HP:0002414	Spina bifida	1	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1		134
HP:0010301	HP:0002414	Spina bifida	1	TRIM36 CL E G H	55521	16280	OMIM:206500	ANENCEPHALY; ANPH		1
HP:0010301	HP:0002414	Spina bifida	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0010301	HP:0002414	Spina bifida	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0010301	HP:0002414	Spina bifida	1	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to		111
HP:0010301	HP:0030708	Myeloschisis	1	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele		111
HP:0010301	HP:0002414	Spina bifida	1	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to		2
HP:0010301	HP:0002414	Spina bifida	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0010301	HP:0002414	Spina bifida	1	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0010301	HP:0002414	Spina bifida	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0010301	HP:0002414	Spina bifida	1	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6		5
HP:0010301	HP:0002414	Spina bifida	1	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0010301	HP:0003298	Spina bifida occulta	2	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome	HP:0040283 - Occasional	72
HP:0010301	HP:0003298	Spina bifida occulta	2	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0010301	HP:0003298	Spina bifida occulta	2	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040283 - Occasional	34
HP:0010301	HP:0003298	Spina bifida occulta	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0010301	HP:0003298	Spina bifida occulta	2	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	5
HP:0010301	HP:0003298	Spina bifida occulta	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional	36
HP:0010301	HP:0003298	Spina bifida occulta	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010301	HP:0003298	Spina bifida occulta	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010301	HP:0003298	Spina bifida occulta	2	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.	13
HP:0010301	HP:0003298	Spina bifida occulta	2	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	276
HP:0010301	HP:0003298	Spina bifida occulta	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010301	HP:0003298	Spina bifida occulta	2	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0010301	HP:0003298	Spina bifida occulta	2	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to	.	3
HP:0010301	HP:0003298	Spina bifida occulta	2	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	.	7
HP:0010301	HP:0003298	Spina bifida occulta	2	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0010301	HP:0003298	Spina bifida occulta	2	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	35
HP:0010301	HP:0003298	Spina bifida occulta	2	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional	68
HP:0010301	HP:0003298	Spina bifida occulta	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010301	HP:0003298	Spina bifida occulta	2	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0010301	HP:0003298	Spina bifida occulta	2	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	3
HP:0010301	HP:0003298	Spina bifida occulta	2	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	9
HP:0010301	HP:0003298	Spina bifida occulta	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0010301	HP:0003298	Spina bifida occulta	2	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1	.	127
HP:0010301	HP:0005857	Cervical spina bifida	2	DACT1 CL E G H	51339	17748	ORPHA:63260	Craniorachischisis	HP:0040281 - Very frequent	2
HP:0010301	HP:0003298	Spina bifida occulta	2	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2	.	2
HP:0010301	HP:0003298	Spina bifida occulta	2	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0010301	HP:0003298	Spina bifida occulta	2	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0010301	HP:0003298	Spina bifida occulta	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010301	HP:0003298	Spina bifida occulta	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010301	HP:0003298	Spina bifida occulta	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0010301	HP:0003298	Spina bifida occulta	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0010301	HP:0003298	Spina bifida occulta	2	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040283 - Occasional	2
HP:0010301	HP:0003298	Spina bifida occulta	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010301	HP:0003298	Spina bifida occulta	2	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional	493
HP:0010301	HP:0003298	Spina bifida occulta	2	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.	233
HP:0010301	HP:0003298	Spina bifida occulta	2	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to	.	3
HP:0010301	HP:0003298	Spina bifida occulta	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0010301	HP:0003298	Spina bifida occulta	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0010301	HP:0003298	Spina bifida occulta	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0010301	HP:0003298	Spina bifida occulta	2	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	10
HP:0010301	HP:0003298	Spina bifida occulta	2	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive	.	10
HP:0010301	HP:0003298	Spina bifida occulta	2	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0010301	HP:0003298	Spina bifida occulta	2	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional	52
HP:0010301	HP:0003298	Spina bifida occulta	2	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome	.	99
HP:0010301	HP:0003298	Spina bifida occulta	2	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.	13
HP:0010301	HP:0003298	Spina bifida occulta	2	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	13
HP:0010301	HP:0003298	Spina bifida occulta	2	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	88
HP:0010301	HP:0003298	Spina bifida occulta	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010301	HP:0003298	Spina bifida occulta	2	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	63
HP:0010301	HP:0003298	Spina bifida occulta	2	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional	11
HP:0010301	HP:0003298	Spina bifida occulta	2	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	21
HP:0010301	HP:0003298	Spina bifida occulta	2	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.	21
HP:0010301	HP:0003298	Spina bifida occulta	2	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0010301	HP:0003298	Spina bifida occulta	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0010301	HP:0003298	Spina bifida occulta	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0010301	HP:0003298	Spina bifida occulta	2	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.	166
HP:0010301	HP:0003298	Spina bifida occulta	2	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional	166
HP:0010301	HP:0003298	Spina bifida occulta	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0010301	HP:0003298	Spina bifida occulta	2	NEK9 CL E G H	91754	18591	ORPHA:64754	Nevus comedonicus syndrome	HP:0040283 - Occasional	9
HP:0010301	HP:0003298	Spina bifida occulta	2	NOTCH2NLC CL E G H	100996717	53924	ORPHA:2289	Neuronal intranuclear inclusion disease	HP:0040282 - Frequent
HP:0010301	HP:0003298	Spina bifida occulta	2	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	84
HP:0010301	HP:0003298	Spina bifida occulta	2	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome	.	2
HP:0010301	HP:0003298	Spina bifida occulta	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0010301	HP:0003298	Spina bifida occulta	2	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.	291
HP:0010301	HP:0003298	Spina bifida occulta	2	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	291
HP:0010301	HP:0003298	Spina bifida occulta	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0010301	HP:0003298	Spina bifida occulta	2	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1	.	31
HP:0010301	HP:0003298	Spina bifida occulta	2	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	212
HP:0010301	HP:0003298	Spina bifida occulta	2	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0010301	HP:0003298	Spina bifida occulta	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010301	HP:0003298	Spina bifida occulta	2	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	3
HP:0010301	HP:0003298	Spina bifida occulta	2	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA		1
HP:0010301	HP:0003298	Spina bifida occulta	2	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040282 - Frequent	90
HP:0010301	HP:0003298	Spina bifida occulta	2	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	86
HP:0010301	HP:0003298	Spina bifida occulta	2	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0010301	HP:0003298	Spina bifida occulta	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010301	HP:0003298	Spina bifida occulta	2	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	271
HP:0010301	HP:0003298	Spina bifida occulta	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010301	HP:0003298	Spina bifida occulta	2	TBX6 CL E G H	6911	11605	ORPHA:1797	Autosomal dominant spondylocostal dysostosis	HP:0040283 - Occasional	19
HP:0010301	HP:0003298	Spina bifida occulta	2	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to	.
HP:0010301	HP:0003298	Spina bifida occulta	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010301	HP:0003298	Spina bifida occulta	2	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1	HP:0040283 - Occasional	134
HP:0010301	HP:0003298	Spina bifida occulta	2	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to	.	111
HP:0010301	HP:0003298	Spina bifida occulta	2	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to	.	2
HP:0010301	HP:0003298	Spina bifida occulta	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010301	HP:0003298	Spina bifida occulta	2	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0010301	HP:0003298	Spina bifida occulta	2	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6	HP:0040283 - Occasional	5
HP:0010301	HP:0003298	Spina bifida occulta	2	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0010301	HP:0004614	Spina bifida occulta at S1	3	CL E G H
HP:0010301	HP:0004601	Spina bifida occulta at L5	3	CL E G H

Genes (147) :ACTB AMER1 ARID1B ARVCF ATP6V1B2 B3GLCT BAZ1B BCL7B BMP2 BMS1 BRAF BRCA1 BRCA2 BRIP1 BUD23 CCBE1 CCL2 CCNQ CDK13 CHN1 CHRNG CLIP2 COL18A1 COLEC10 COLEC11 COMT CREBBP CUL7 DACT1 DARS1 DLK1 DLL3 DLL4 DNAJC30 EIF4H ELN EP300 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FIBP FKBP6 FLI1 FLNA FLNB FUZ GDF3 GDF6 GP1BB GTF2I GTF2IRD1 GTF2IRD2 HAAO HES7 HIRA HMX1 HRAS IKBKG IRF6 ITGB4 JMJD1C KANSL1 KCNH1 KIF22 LFNG LIG4 LIMK1 LMX1B MAD2L2 MAFB MAP3K7 MASP1 MEG3 MEOX1 MESP2 METTL27 MLXIPL MTHFD1 MTHFR MTR MTRR MYH3 NCF1 NEK9 NF1 NOTCH2NLC NSUN2 PALB2 PAX3 PHGDH PIK3CA PLEC POLA1 PORCN PSAT1 PTCH1 PTCH2 PTPN11 PUF60 RAB23 RAD51 RAD51C RAF1 RBM8A RECQL4 RFC2 RFWD3 RIPPLY2 RMRP RORA RREB1 RTL1 RUNX2 SALL4 SEC24C SLC25A19 SLX4 SNRPB SOX9 STX1A SUFU SUPT16H TBC1D24 TBL2 TBX1 TBX6 TBXT TMEM270 TNXB TRIM36 UBA2 UBE2T UFD1 VANGL1 VANGL2 VPS37D WBP11 XRCC2 ZIC1

Diseases (81) :ORPHA:64755 OMIM:300373 ORPHA:2780 OMIM:135900 ORPHA:567 ORPHA:79500 ORPHA:709 ORPHA:904 OMIM:617877 ORPHA:1114 ORPHA:500 ORPHA:84 OMIM:235510 OMIM:182940 OMIM:300707 OMIM:617360 ORPHA:233 ORPHA:2990 OMIM:267750 ORPHA:293843 OMIM:180849 OMIM:273750 ORPHA:63260 OMIM:617466 OMIM:615281 ORPHA:96334 ORPHA:2311 ORPHA:3412 ORPHA:500095 ORPHA:2308 ORPHA:1826 OMIM:150250 ORPHA:2345 OMIM:617660 OMIM:613686 OMIM:612109 ORPHA:2874 ORPHA:464 OMIM:119500 ORPHA:363958 ORPHA:363965 OMIM:135500 OMIM:603546 ORPHA:235 OMIM:161200 OMIM:257920 OMIM:601634 OMIM:193700 ORPHA:64754 OMIM:162200 ORPHA:2289 ORPHA:894 OMIM:193500 OMIM:256520 OMIM:612918 OMIM:301030 OMIM:305600 ORPHA:2092 OMIM:616038 OMIM:109400 OMIM:151100 ORPHA:508488 ORPHA:508498 OMIM:201000 OMIM:274000 OMIM:218600 ORPHA:175 OMIM:618060 ORPHA:1452 OMIM:607323 ORPHA:99742 ORPHA:1393 OMIM:114290 OMIM:619480 ORPHA:1797 ORPHA:230839 OMIM:206500 OMIM:600145 OMIM:619227 OMIM:616602 OMIM:618736

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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