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 posterior cranial fossa morphology (HP:0000932)

Parent Node:
Cerebellar cyst (HP:0002350)

Parent Node:
Cerebellar vermis hypoplasia (HP:0001320)

Parent Node:
Dilated fourth ventricle (HP:0002198)

Parent Node:
Enlarged posterior fossa (HP:0005445)

..Starting node
..Dandy-Walker malformation (HP:0001305)

Term ID:

1305

Name:

Dandy-Walker malformation

Synonym:

Dandy-walker anomaly; Dandy-Walker cyst

Definition:

A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.

Comments:

Reference:

HP:0001305

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0001305	HP:0001305	Dandy-Walker malformation	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0001305	HP:0001305	Dandy-Walker malformation	0	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040284 - Very rare	37
HP:0001305	HP:0001305	Dandy-Walker malformation	0	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	HP:0040283 - Occasional	13
HP:0001305	HP:0001305	Dandy-Walker malformation	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	88
HP:0001305	HP:0001305	Dandy-Walker malformation	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0001305	HP:0001305	Dandy-Walker malformation	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	219
HP:0001305	HP:0001305	Dandy-Walker malformation	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0001305	HP:0001305	Dandy-Walker malformation	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	25
HP:0001305	HP:0001305	Dandy-Walker malformation	0	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0001305	HP:0001305	Dandy-Walker malformation	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040283 - Occasional	145
HP:0001305	HP:0001305	Dandy-Walker malformation	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0001305	HP:0001305	Dandy-Walker malformation	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	140
HP:0001305	HP:0001305	Dandy-Walker malformation	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.	140
HP:0001305	HP:0001305	Dandy-Walker malformation	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040282 - Frequent	140
HP:0001305	HP:0001305	Dandy-Walker malformation	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	3
HP:0001305	HP:0001305	Dandy-Walker malformation	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	5
HP:0001305	HP:0001305	Dandy-Walker malformation	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	2
HP:0001305	HP:0001305	Dandy-Walker malformation	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	43
HP:0001305	HP:0001305	Dandy-Walker malformation	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG	HP:0040281 - Very frequent	85
HP:0001305	HP:0001305	Dandy-Walker malformation	0	B4GALT1 CL E G H	2683	924	OMIM:607091	Congenital disorder of glycosylation, type IID	.	85
HP:0001305	HP:0001305	Dandy-Walker malformation	0	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13	.	17
HP:0001305	HP:0001305	Dandy-Walker malformation	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	17
HP:0001305	HP:0001305	Dandy-Walker malformation	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	28
HP:0001305	HP:0001305	Dandy-Walker malformation	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	34
HP:0001305	HP:0001305	Dandy-Walker malformation	0	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0001305	HP:0001305	Dandy-Walker malformation	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0001305	HP:0001305	Dandy-Walker malformation	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent	5
HP:0001305	HP:0001305	Dandy-Walker malformation	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent	76
HP:0001305	HP:0001305	Dandy-Walker malformation	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0001305	HP:0001305	Dandy-Walker malformation	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent
HP:0001305	HP:0001305	Dandy-Walker malformation	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0001305	HP:0001305	Dandy-Walker malformation	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0001305	HP:0001305	Dandy-Walker malformation	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	247
HP:0001305	HP:0001305	Dandy-Walker malformation	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040281 - Very frequent	33
HP:0001305	HP:0001305	Dandy-Walker malformation	0	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.	33
HP:0001305	HP:0001305	Dandy-Walker malformation	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional	6
HP:0001305	HP:0001305	Dandy-Walker malformation	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional	114
HP:0001305	HP:0001305	Dandy-Walker malformation	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.	7
HP:0001305	HP:0001305	Dandy-Walker malformation	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	342
HP:0001305	HP:0001305	Dandy-Walker malformation	0	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0001305	HP:0001305	Dandy-Walker malformation	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent	17
HP:0001305	HP:0001305	Dandy-Walker malformation	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	515
HP:0001305	HP:0001305	Dandy-Walker malformation	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	193
HP:0001305	HP:0001305	Dandy-Walker malformation	0	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040283 - Occasional	101
HP:0001305	HP:0001305	Dandy-Walker malformation	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0001305	HP:0001305	Dandy-Walker malformation	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent
HP:0001305	HP:0001305	Dandy-Walker malformation	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0001305	HP:0001305	Dandy-Walker malformation	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0001305	HP:0001305	Dandy-Walker malformation	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	57
HP:0001305	HP:0001305	Dandy-Walker malformation	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	108
HP:0001305	HP:0001305	Dandy-Walker malformation	0	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49	HP:0040284 - Very rare	6
HP:0001305	HP:0001305	Dandy-Walker malformation	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0001305	HP:0001305	Dandy-Walker malformation	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	91
HP:0001305	HP:0001305	Dandy-Walker malformation	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0001305	HP:0001305	Dandy-Walker malformation	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040282 - Frequent	3
HP:0001305	HP:0001305	Dandy-Walker malformation	0	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair	HP:0040283 - Occasional	3
HP:0001305	HP:0001305	Dandy-Walker malformation	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001305	HP:0001305	Dandy-Walker malformation	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	304
HP:0001305	HP:0001305	Dandy-Walker malformation	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0001305	HP:0001305	Dandy-Walker malformation	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0001305	HP:0001305	Dandy-Walker malformation	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.	51
HP:0001305	HP:0001305	Dandy-Walker malformation	0	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome	.	51
HP:0001305	HP:0001305	Dandy-Walker malformation	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent	51
HP:0001305	HP:0001305	Dandy-Walker malformation	0	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome	HP:0040283 - Occasional	92
HP:0001305	HP:0001305	Dandy-Walker malformation	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.	209
HP:0001305	HP:0001305	Dandy-Walker malformation	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.	137
HP:0001305	HP:0001305	Dandy-Walker malformation	0	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency	HP:0040283 - Occasional	7
HP:0001305	HP:0001305	Dandy-Walker malformation	0	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD		7
HP:0001305	HP:0001305	Dandy-Walker malformation	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0001305	HP:0001305	Dandy-Walker malformation	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0001305	HP:0001305	Dandy-Walker malformation	0	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5	.	157
HP:0001305	HP:0001305	Dandy-Walker malformation	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	157
HP:0001305	HP:0001305	Dandy-Walker malformation	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0001305	HP:0001305	Dandy-Walker malformation	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	184
HP:0001305	HP:0001305	Dandy-Walker malformation	0	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	.	47
HP:0001305	HP:0001305	Dandy-Walker malformation	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath	.	70
HP:0001305	HP:0001305	Dandy-Walker malformation	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0001305	HP:0001305	Dandy-Walker malformation	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0001305	HP:0001305	Dandy-Walker malformation	0	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome	HP:0040282 - Frequent	270
HP:0001305	HP:0001305	Dandy-Walker malformation	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional	73
HP:0001305	HP:0001305	Dandy-Walker malformation	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0001305	HP:0001305	Dandy-Walker malformation	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0001305	HP:0001305	Dandy-Walker malformation	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional
HP:0001305	HP:0001305	Dandy-Walker malformation	0	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040283 - Occasional	113
HP:0001305	HP:0001305	Dandy-Walker malformation	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1	.	31
HP:0001305	HP:0001305	Dandy-Walker malformation	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	65
HP:0001305	HP:0001305	Dandy-Walker malformation	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional	9
HP:0001305	HP:0001305	Dandy-Walker malformation	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional	730
HP:0001305	HP:0001305	Dandy-Walker malformation	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional	1
HP:0001305	HP:0001305	Dandy-Walker malformation	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0001305	HP:0001305	Dandy-Walker malformation	0	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome	HP:0040282 - Frequent	167
HP:0001305	HP:0001305	Dandy-Walker malformation	0	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040283 - Occasional	196
HP:0001305	HP:0001305	Dandy-Walker malformation	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0001305	HP:0001305	Dandy-Walker malformation	0	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6	HP:0040282 - Frequent	136
HP:0001305	HP:0001305	Dandy-Walker malformation	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	136
HP:0001305	HP:0001305	Dandy-Walker malformation	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0001305	HP:0001305	Dandy-Walker malformation	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0001305	HP:0001305	Dandy-Walker malformation	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	127
HP:0001305	HP:0001305	Dandy-Walker malformation	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0001305	HP:0001305	Dandy-Walker malformation	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked		185
HP:0001305	HP:0001305	Dandy-Walker malformation	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	72
HP:0001305	HP:0001305	Dandy-Walker malformation	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional
HP:0001305	HP:0001305	Dandy-Walker malformation	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0001305	HP:0001305	Dandy-Walker malformation	0	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome	HP:0040281 - Very frequent	157
HP:0001305	HP:0001305	Dandy-Walker malformation	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	HP:0040283 - Occasional	157
HP:0001305	HP:0001305	Dandy-Walker malformation	0	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040283 - Occasional	102
HP:0001305	HP:0001305	Dandy-Walker malformation	0	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic	HP:0040283 - Occasional	102
HP:0001305	HP:0001305	Dandy-Walker malformation	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional
HP:0001305	HP:0001305	Dandy-Walker malformation	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional	201
HP:0001305	HP:0001305	Dandy-Walker malformation	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0001305	HP:0001305	Dandy-Walker malformation	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0001305	HP:0001305	Dandy-Walker malformation	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040283 - Occasional	37
HP:0001305	HP:0001305	Dandy-Walker malformation	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0001305	HP:0001305	Dandy-Walker malformation	0	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia	HP:0040283 - Occasional	11
HP:0001305	HP:0001305	Dandy-Walker malformation	0	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included	.	11
HP:0001305	HP:0001305	Dandy-Walker malformation	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040284 - Very rare	150
HP:0001305	HP:0001305	Dandy-Walker malformation	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0001305	HP:0001305	Dandy-Walker malformation	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	180
HP:0001305	HP:0001305	Dandy-Walker malformation	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	33
HP:0001305	HP:0001305	Dandy-Walker malformation	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	18
HP:0001305	HP:0001305	Dandy-Walker malformation	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0001305	HP:0001305	Dandy-Walker malformation	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	213
HP:0001305	HP:0001305	Dandy-Walker malformation	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0001305	HP:0001305	Dandy-Walker malformation	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	221
HP:0001305	HP:0001305	Dandy-Walker malformation	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0001305	HP:0001305	Dandy-Walker malformation	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	73
HP:0001305	HP:0001305	Dandy-Walker malformation	0	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.	3
HP:0001305	HP:0001305	Dandy-Walker malformation	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	109
HP:0001305	HP:0001305	Dandy-Walker malformation	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	167
HP:0001305	HP:0001305	Dandy-Walker malformation	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent
HP:0001305	HP:0001305	Dandy-Walker malformation	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	16
HP:0001305	HP:0001305	Dandy-Walker malformation	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	2
HP:0001305	HP:0001305	Dandy-Walker malformation	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040284 - Very rare	27
HP:0001305	HP:0001305	Dandy-Walker malformation	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	617
HP:0001305	HP:0001305	Dandy-Walker malformation	0	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4		617
HP:0001305	HP:0001305	Dandy-Walker malformation	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	87
HP:0001305	HP:0001305	Dandy-Walker malformation	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	1
HP:0001305	HP:0001305	Dandy-Walker malformation	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0001305	HP:0001305	Dandy-Walker malformation	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	47
HP:0001305	HP:0001305	Dandy-Walker malformation	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5	.	47
HP:0001305	HP:0001305	Dandy-Walker malformation	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0001305	HP:0001305	Dandy-Walker malformation	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	14
HP:0001305	HP:0001305	Dandy-Walker malformation	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0001305	HP:0001305	Dandy-Walker malformation	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	271
HP:0001305	HP:0001305	Dandy-Walker malformation	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome	HP:0040283 - Occasional	271
HP:0001305	HP:0001305	Dandy-Walker malformation	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0001305	HP:0001305	Dandy-Walker malformation	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	76
HP:0001305	HP:0001305	Dandy-Walker malformation	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	31
HP:0001305	HP:0001305	Dandy-Walker malformation	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	4
HP:0001305	HP:0001305	Dandy-Walker malformation	0	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16		39
HP:0001305	HP:0001305	Dandy-Walker malformation	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0001305	HP:0001305	Dandy-Walker malformation	0	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2	HP:0040283 - Occasional	45
HP:0001305	HP:0001305	Dandy-Walker malformation	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	33
HP:0001305	HP:0001305	Dandy-Walker malformation	0	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040282 - Frequent	33
HP:0001305	HP:0001305	Dandy-Walker malformation	0	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.	82
HP:0001305	HP:0001305	Dandy-Walker malformation	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	82
HP:0001305	HP:0001305	Dandy-Walker malformation	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	166
HP:0001305	HP:0001305	Dandy-Walker malformation	0	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3		166
HP:0001305	HP:0001305	Dandy-Walker malformation	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent	2
HP:0001305	HP:0001305	Dandy-Walker malformation	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	106
HP:0001305	HP:0001305	Dandy-Walker malformation	0	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	HP:0040283 - Occasional	14
HP:0001305	HP:0001305	Dandy-Walker malformation	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	2
HP:0001305	HP:0001305	Dandy-Walker malformation	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0001305	HP:0001305	Dandy-Walker malformation	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040282 - Frequent	27
HP:0001305	HP:0001305	Dandy-Walker malformation	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0001305	HP:0001305	Dandy-Walker malformation	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040281 - Very frequent	83
HP:0001305	HP:0001305	Dandy-Walker malformation	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.	83
HP:0001305	HP:0001305	Dandy-Walker malformation	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	136
HP:0001305	HP:0001305	Dandy-Walker malformation	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	HP:0040283 - Occasional	14
HP:0001305	HP:0001305	Dandy-Walker malformation	0	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies	.	27
HP:0001305	HP:0001305	Dandy-Walker malformation	0	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6	HP:0040283 - Occasional	5
HP:0001305	HP:0001305	Dandy-Walker malformation	0	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5

Genes (132) :AFF3 ALG3 AP1S2 ARID1A ARID1B ARID2 ARMC9 ASXL1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 B3GALNT2 B4GALT1 B4GAT1 B9D1 B9D2 BCOR BUB1 BUB1B BUB3 C2CD3 CC2D2A CCDC22 CDC42 CDKN1C CEP120 CEP290 CEP57 CHD7 COL4A1 CPT2 CRPPA CSF1R CSPP1 DAG1 DENND5A DHCR7 DOK7 DPF2 DPH1 DPYSL5 DYNC2H1 DYNC2I1 DYNC2I2 EBP ESCO2 EVC EVC2 FAR1 FGFR1 FKRP FKTN FLVCR2 FTO GJB2 GJB6 GLI3 GPC3 GPC4 GTPBP2 H19-ICR HRAS HYLS1 IFT80 IGF2 KCNQ1 KCNQ1OT1 KIAA0586 KIF7 KRAS LARGE1 MAB21L1 MID1 MKS1 MTM1 MUSK MYOD1 NPHP3 NRAS NUP88 OFD1 PHGDH PIEZO2 PIGN PLCH1 PLG PMM2 POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 PPP1CB RAPSN RNF113A RPGRIP1 RPGRIP1L RXYLT1 SEMA3E SLC18A3 SLC35A2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMG9 SOX11 SOX4 TBC1D24 TCTN1 TCTN2 TCTN3 TMEM107 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TRIP13 TUBA1A TUBB TXNDC15 USP9X VPS51 WASHC5 WDR35 WDR73 WDR81 ZIC1

Diseases (99) :OMIM:619297 ORPHA:79321 OMIM:304340 ORPHA:1465 OMIM:614607 OMIM:135900 OMIM:617622 ORPHA:97297 OMIM:605039 ORPHA:357074 OMIM:219200 ORPHA:2834 ORPHA:79500 ORPHA:899 ORPHA:79332 OMIM:607091 OMIM:615287 ORPHA:564 OMIM:614175 OMIM:300166 ORPHA:1052 OMIM:257300 ORPHA:434179 OMIM:615948 ORPHA:7 OMIM:300963 ORPHA:487796 OMIM:130650 OMIM:616300 OMIM:611134 ORPHA:138 ORPHA:228305 OMIM:614643 OMIM:618476 ORPHA:397715 OMIM:617281 OMIM:270400 ORPHA:994 ORPHA:459061 OMIM:616901 OMIM:619435 ORPHA:93271 OMIM:302960 OMIM:300960 ORPHA:401973 ORPHA:2319 OMIM:225500 ORPHA:438178 OMIM:616154 OMIM:613001 OMIM:236670 OMIM:613153 OMIM:225790 OMIM:612938 ORPHA:477 ORPHA:36 ORPHA:373 OMIM:617988 ORPHA:2612 OMIM:236680 OMIM:613154 OMIM:618479 ORPHA:2745 OMIM:249000 OMIM:310400 OMIM:267010 ORPHA:3032 OMIM:208540 OMIM:249400 ORPHA:2750 OMIM:256520 OMIM:248700 ORPHA:2059 OMIM:619895 ORPHA:722 OMIM:217090 ORPHA:79318 OMIM:264090 OMIM:617506 OMIM:300953 ORPHA:356961 OMIM:614609 OMIM:616938 OMIM:616920 OMIM:220500 OMIM:614465 OMIM:603194 ORPHA:2752 OMIM:614424 OMIM:607361 OMIM:156610 OMIM:300968 ORPHA:480880 OMIM:618606 OMIM:220210 OMIM:251300 OMIM:617967 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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