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:
Central nervous system cyst (HP:0030724)

Parent Node:
Cerebellar malformation (HP:0002438)

Parent Node:
Intracranial cystic lesion (HP:0010576)

..Starting node
..Cerebellar cyst (HP:0002350)

Term ID:

2350

Name:

Cerebellar cyst

Synonym:

Cerebellar cysts

Definition:

Comments:

Reference:

HP:0002350

Genes and Diseases:

Child Nodes:

........

Dandy-Walker malformation (HP:0001305)

........

Retrocerebellar cyst (HP:0006951)

Sister Nodes:

Basal ganglia cysts (HP:0006799)

Intracranial dermoid cyst (HP:0012097)

Intracranial epidermoid cyst (HP:0012096)

Periventricular cysts (HP:0007109)

Posterior fossa cyst (HP:0007291)

Subependymal cysts (HP:0002416)

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:0002350	HP:0002350	Cerebellar cyst	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0002350	HP:0002350	Cerebellar cyst	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1		1
HP:0002350	HP:0002350	Cerebellar cyst	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome		36
HP:0002350	HP:0002350	Cerebellar cyst	0	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome		36
HP:0002350	HP:0002350	Cerebellar cyst	0	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG		37
HP:0002350	HP:0002350	Cerebellar cyst	0	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome		13
HP:0002350	HP:0002350	Cerebellar cyst	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0002350	HP:0002350	Cerebellar cyst	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0002350	HP:0002350	Cerebellar cyst	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0002350	HP:0002350	Cerebellar cyst	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0002350	HP:0002350	Cerebellar cyst	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0002350	HP:0002350	Cerebellar cyst	0	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0002350	HP:0002350	Cerebellar cyst	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0002350	HP:0002350	Cerebellar cyst	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0002350	HP:0002350	Cerebellar cyst	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0002350	HP:0002350	Cerebellar cyst	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA		140
HP:0002350	HP:0002350	Cerebellar cyst	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0002350	HP:0002350	Cerebellar cyst	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0002350	HP:0002350	Cerebellar cyst	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0002350	HP:0002350	Cerebellar cyst	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0002350	HP:0002350	Cerebellar cyst	0	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11	.	43
HP:0002350	HP:0002350	Cerebellar cyst	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome		43
HP:0002350	HP:0002350	Cerebellar cyst	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0002350	HP:0002350	Cerebellar cyst	0	B4GALT1 CL E G H	2683	924	OMIM:607091	Congenital disorder of glycosylation, type IID		85
HP:0002350	HP:0002350	Cerebellar cyst	0	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0002350	HP:0002350	Cerebellar cyst	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome		17
HP:0002350	HP:0002350	Cerebellar cyst	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0002350	HP:0002350	Cerebellar cyst	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0002350	HP:0002350	Cerebellar cyst	0	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0002350	HP:0002350	Cerebellar cyst	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0002350	HP:0002350	Cerebellar cyst	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0002350	HP:0002350	Cerebellar cyst	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0002350	HP:0002350	Cerebellar cyst	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0002350	HP:0002350	Cerebellar cyst	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0002350	HP:0002350	Cerebellar cyst	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0002350	HP:0002350	Cerebellar cyst	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV		27
HP:0002350	HP:0002350	Cerebellar cyst	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0002350	HP:0002350	Cerebellar cyst	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0002350	HP:0002350	Cerebellar cyst	0	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2		33
HP:0002350	HP:0002350	Cerebellar cyst	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0002350	HP:0002350	Cerebellar cyst	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0002350	HP:0002350	Cerebellar cyst	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly		7
HP:0002350	HP:0002350	Cerebellar cyst	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0002350	HP:0002350	Cerebellar cyst	0	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0002350	HP:0002350	Cerebellar cyst	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0002350	HP:0002350	Cerebellar cyst	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0002350	HP:0002350	Cerebellar cyst	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	.	749
HP:0002350	HP:0002350	Cerebellar cyst	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome		193
HP:0002350	HP:0002350	Cerebellar cyst	0	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0002350	HP:0002350	Cerebellar cyst	0	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040283 - Occasional
HP:0002350	HP:0002350	Cerebellar cyst	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0002350	HP:0002350	Cerebellar cyst	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0002350	HP:0002350	Cerebellar cyst	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0002350	HP:0002350	Cerebellar cyst	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0002350	HP:0002350	Cerebellar cyst	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0002350	HP:0002350	Cerebellar cyst	0	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	HP:0040282 - Frequent	108
HP:0002350	HP:0002350	Cerebellar cyst	0	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9	.	108
HP:0002350	HP:0002350	Cerebellar cyst	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome		108
HP:0002350	HP:0002350	Cerebellar cyst	0	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49		6
HP:0002350	HP:0002350	Cerebellar cyst	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0002350	HP:0002350	Cerebellar cyst	0	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2		18
HP:0002350	HP:0002350	Cerebellar cyst	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence		91
HP:0002350	HP:0002350	Cerebellar cyst	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0002350	HP:0002350	Cerebellar cyst	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0002350	HP:0002350	Cerebellar cyst	0	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair		3
HP:0002350	HP:0002350	Cerebellar cyst	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0002350	HP:0002350	Cerebellar cyst	0	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3	HP:0040283 - Occasional	304
HP:0002350	HP:0002350	Cerebellar cyst	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0002350	HP:0002350	Cerebellar cyst	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0002350	HP:0002350	Cerebellar cyst	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0002350	HP:0002350	Cerebellar cyst	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0002350	HP:0002350	Cerebellar cyst	0	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome		51
HP:0002350	HP:0002350	Cerebellar cyst	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome		51
HP:0002350	HP:0002350	Cerebellar cyst	0	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome		92
HP:0002350	HP:0002350	Cerebellar cyst	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome		209
HP:0002350	HP:0002350	Cerebellar cyst	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome		137
HP:0002350	HP:0002350	Cerebellar cyst	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1		38
HP:0002350	HP:0002350	Cerebellar cyst	0	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B	.	38
HP:0002350	HP:0002350	Cerebellar cyst	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1		4
HP:0002350	HP:0002350	Cerebellar cyst	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0002350	HP:0002350	Cerebellar cyst	0	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency		7
HP:0002350	HP:0002350	Cerebellar cyst	0	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD		7
HP:0002350	HP:0002350	Cerebellar cyst	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis		172
HP:0002350	HP:0002350	Cerebellar cyst	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	157
HP:0002350	HP:0002350	Cerebellar cyst	0	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040283 - Occasional	157
HP:0002350	HP:0002350	Cerebellar cyst	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0002350	HP:0002350	Cerebellar cyst	0	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5	.	157
HP:0002350	HP:0002350	Cerebellar cyst	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.	157
HP:0002350	HP:0002350	Cerebellar cyst	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome		157
HP:0002350	HP:0002350	Cerebellar cyst	0	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040283 - Occasional	184
HP:0002350	HP:0002350	Cerebellar cyst	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0002350	HP:0002350	Cerebellar cyst	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.	184
HP:0002350	HP:0002350	Cerebellar cyst	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome		184
HP:0002350	HP:0002350	Cerebellar cyst	0	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome		47
HP:0002350	HP:0002350	Cerebellar cyst	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0002350	HP:0002350	Cerebellar cyst	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0002350	HP:0002350	Cerebellar cyst	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0002350	HP:0002350	Cerebellar cyst	0	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome		270
HP:0002350	HP:0002350	Cerebellar cyst	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	34
HP:0002350	HP:0002350	Cerebellar cyst	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0002350	HP:0002350	Cerebellar cyst	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0002350	HP:0002350	Cerebellar cyst	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations		30
HP:0002350	HP:0002350	Cerebellar cyst	0	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		8
HP:0002350	HP:0002350	Cerebellar cyst	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0002350	HP:0002350	Cerebellar cyst	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0002350	HP:0002350	Cerebellar cyst	0	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome		113
HP:0002350	HP:0002350	Cerebellar cyst	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0002350	HP:0002350	Cerebellar cyst	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0002350	HP:0002350	Cerebellar cyst	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0002350	HP:0002350	Cerebellar cyst	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0002350	HP:0002350	Cerebellar cyst	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0002350	HP:0002350	Cerebellar cyst	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0002350	HP:0002350	Cerebellar cyst	0	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome		167
HP:0002350	HP:0002350	Cerebellar cyst	0	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome		196
HP:0002350	HP:0002350	Cerebellar cyst	0	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	HP:0040281 - Very frequent	35
HP:0002350	HP:0002350	Cerebellar cyst	0	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome	.	35
HP:0002350	HP:0002350	Cerebellar cyst	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0002350	HP:0002350	Cerebellar cyst	0	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6		136
HP:0002350	HP:0002350	Cerebellar cyst	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome		136
HP:0002350	HP:0002350	Cerebellar cyst	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	8
HP:0002350	HP:0002350	Cerebellar cyst	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0002350	HP:0002350	Cerebellar cyst	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0002350	HP:0002350	Cerebellar cyst	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0002350	HP:0002350	Cerebellar cyst	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0002350	HP:0002350	Cerebellar cyst	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked		185
HP:0002350	HP:0002350	Cerebellar cyst	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence		72
HP:0002350	HP:0002350	Cerebellar cyst	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0002350	HP:0002350	Cerebellar cyst	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0002350	HP:0002350	Cerebellar cyst	0	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome		157
HP:0002350	HP:0002350	Cerebellar cyst	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0002350	HP:0002350	Cerebellar cyst	0	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome		102
HP:0002350	HP:0002350	Cerebellar cyst	0	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic		102
HP:0002350	HP:0002350	Cerebellar cyst	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0002350	HP:0002350	Cerebellar cyst	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I		201
HP:0002350	HP:0002350	Cerebellar cyst	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1		201
HP:0002350	HP:0002350	Cerebellar cyst	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0002350	HP:0002350	Cerebellar cyst	0	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome		55
HP:0002350	HP:0002350	Cerebellar cyst	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	88
HP:0002350	HP:0002350	Cerebellar cyst	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0002350	HP:0002350	Cerebellar cyst	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0002350	HP:0002350	Cerebellar cyst	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0002350	HP:0002350	Cerebellar cyst	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0002350	HP:0002350	Cerebellar cyst	0	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia		11
HP:0002350	HP:0002350	Cerebellar cyst	0	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included		11
HP:0002350	HP:0002350	Cerebellar cyst	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0002350	HP:0002350	Cerebellar cyst	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0002350	HP:0002350	Cerebellar cyst	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	180
HP:0002350	HP:0002350	Cerebellar cyst	0	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	.	180
HP:0002350	HP:0002350	Cerebellar cyst	0	POMGNT1 CL E G H	55624	19139	OMIM:613151	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3	.	180
HP:0002350	HP:0002350	Cerebellar cyst	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome		180
HP:0002350	HP:0002350	Cerebellar cyst	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome		33
HP:0002350	HP:0002350	Cerebellar cyst	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	18
HP:0002350	HP:0002350	Cerebellar cyst	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome		18
HP:0002350	HP:0002350	Cerebellar cyst	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	213
HP:0002350	HP:0002350	Cerebellar cyst	0	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040283 - Occasional	213
HP:0002350	HP:0002350	Cerebellar cyst	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0002350	HP:0002350	Cerebellar cyst	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome		213
HP:0002350	HP:0002350	Cerebellar cyst	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	221
HP:0002350	HP:0002350	Cerebellar cyst	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0002350	HP:0002350	Cerebellar cyst	0	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2	.	221
HP:0002350	HP:0002350	Cerebellar cyst	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome		221
HP:0002350	HP:0002350	Cerebellar cyst	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0002350	HP:0002350	Cerebellar cyst	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence		73
HP:0002350	HP:0002350	Cerebellar cyst	0	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive		3
HP:0002350	HP:0002350	Cerebellar cyst	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0002350	HP:0002350	Cerebellar cyst	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0002350	HP:0002350	Cerebellar cyst	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0002350	HP:0002350	Cerebellar cyst	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0002350	HP:0002350	Cerebellar cyst	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040284 - Very rare	66
HP:0002350	HP:0002350	Cerebellar cyst	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence		2
HP:0002350	HP:0002350	Cerebellar cyst	0	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1		14
HP:0002350	HP:0002350	Cerebellar cyst	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG		27
HP:0002350	HP:0002350	Cerebellar cyst	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0002350	HP:0002350	Cerebellar cyst	0	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4		617
HP:0002350	HP:0002350	Cerebellar cyst	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0002350	HP:0002350	Cerebellar cyst	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0002350	HP:0002350	Cerebellar cyst	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0002350	HP:0002350	Cerebellar cyst	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0002350	HP:0002350	Cerebellar cyst	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0002350	HP:0002350	Cerebellar cyst	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0002350	HP:0002350	Cerebellar cyst	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome		14
HP:0002350	HP:0002350	Cerebellar cyst	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0002350	HP:0002350	Cerebellar cyst	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0002350	HP:0002350	Cerebellar cyst	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0002350	HP:0002350	Cerebellar cyst	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0002350	HP:0002350	Cerebellar cyst	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0002350	HP:0002350	Cerebellar cyst	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0002350	HP:0002350	Cerebellar cyst	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0002350	HP:0002350	Cerebellar cyst	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0002350	HP:0002350	Cerebellar cyst	0	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16		39
HP:0002350	HP:0002350	Cerebellar cyst	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0002350	HP:0002350	Cerebellar cyst	0	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2		45
HP:0002350	HP:0002350	Cerebellar cyst	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0002350	HP:0002350	Cerebellar cyst	0	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3		33
HP:0002350	HP:0002350	Cerebellar cyst	0	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14		82
HP:0002350	HP:0002350	Cerebellar cyst	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0002350	HP:0002350	Cerebellar cyst	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0002350	HP:0002350	Cerebellar cyst	0	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3		166
HP:0002350	HP:0002350	Cerebellar cyst	0	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8		5
HP:0002350	HP:0002350	Cerebellar cyst	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0002350	HP:0002350	Cerebellar cyst	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040284 - Very rare	3
HP:0002350	HP:0002350	Cerebellar cyst	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040284 - Very rare	84
HP:0002350	HP:0002350	Cerebellar cyst	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040284 - Very rare	57
HP:0002350	HP:0002350	Cerebellar cyst	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040284 - Very rare	102
HP:0002350	HP:0002350	Cerebellar cyst	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence		106
HP:0002350	HP:0002350	Cerebellar cyst	0	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1		14
HP:0002350	HP:0002350	Cerebellar cyst	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0002350	HP:0002350	Cerebellar cyst	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0002350	HP:0002350	Cerebellar cyst	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability		27
HP:0002350	HP:0002350	Cerebellar cyst	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0002350	HP:0002350	Cerebellar cyst	0	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1		32
HP:0002350	HP:0002350	Cerebellar cyst	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0002350	HP:0002350	Cerebellar cyst	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0002350	HP:0002350	Cerebellar cyst	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0002350	HP:0002350	Cerebellar cyst	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1		14
HP:0002350	HP:0002350	Cerebellar cyst	0	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies		27
HP:0002350	HP:0002350	Cerebellar cyst	0	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6		5
HP:0002350	HP:0002350	Cerebellar cyst	0	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0002350	HP:0002350	Cerebellar cyst	0	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis		5
HP:0002350	HP:0002350	Cerebellar cyst	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia		5
HP:0002350	HP:0001305	Dandy-Walker malformation	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0002350	HP:0006951	Retrocerebellar cyst	1	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040283 - Occasional	36
HP:0002350	HP:0006951	Retrocerebellar cyst	1	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome	HP:0040283 - Occasional	36
HP:0002350	HP:0001305	Dandy-Walker malformation	1	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040284 - Very rare	37
HP:0002350	HP:0001305	Dandy-Walker malformation	1	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	HP:0040283 - Occasional	13
HP:0002350	HP:0001305	Dandy-Walker malformation	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	88
HP:0002350	HP:0001305	Dandy-Walker malformation	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0002350	HP:0001305	Dandy-Walker malformation	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	219
HP:0002350	HP:0001305	Dandy-Walker malformation	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0002350	HP:0001305	Dandy-Walker malformation	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	25
HP:0002350	HP:0001305	Dandy-Walker malformation	1	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0002350	HP:0001305	Dandy-Walker malformation	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040283 - Occasional	145
HP:0002350	HP:0001305	Dandy-Walker malformation	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0002350	HP:0001305	Dandy-Walker malformation	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	140
HP:0002350	HP:0001305	Dandy-Walker malformation	1	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.	140
HP:0002350	HP:0001305	Dandy-Walker malformation	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040282 - Frequent	140
HP:0002350	HP:0001305	Dandy-Walker malformation	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	3
HP:0002350	HP:0001305	Dandy-Walker malformation	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	5
HP:0002350	HP:0001305	Dandy-Walker malformation	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	2
HP:0002350	HP:0001305	Dandy-Walker malformation	1	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	43
HP:0002350	HP:0001305	Dandy-Walker malformation	1	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG	HP:0040281 - Very frequent	85
HP:0002350	HP:0001305	Dandy-Walker malformation	1	B4GALT1 CL E G H	2683	924	OMIM:607091	Congenital disorder of glycosylation, type IID	.	85
HP:0002350	HP:0001305	Dandy-Walker malformation	1	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13	.	17
HP:0002350	HP:0001305	Dandy-Walker malformation	1	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	17
HP:0002350	HP:0001305	Dandy-Walker malformation	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	28
HP:0002350	HP:0001305	Dandy-Walker malformation	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	34
HP:0002350	HP:0001305	Dandy-Walker malformation	1	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0002350	HP:0001305	Dandy-Walker malformation	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0002350	HP:0001305	Dandy-Walker malformation	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent	5
HP:0002350	HP:0001305	Dandy-Walker malformation	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent	76
HP:0002350	HP:0001305	Dandy-Walker malformation	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0002350	HP:0001305	Dandy-Walker malformation	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent
HP:0002350	HP:0001305	Dandy-Walker malformation	1	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0002350	HP:0001305	Dandy-Walker malformation	1	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0002350	HP:0001305	Dandy-Walker malformation	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	247
HP:0002350	HP:0001305	Dandy-Walker malformation	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040281 - Very frequent	33
HP:0002350	HP:0001305	Dandy-Walker malformation	1	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.	33
HP:0002350	HP:0001305	Dandy-Walker malformation	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional	6
HP:0002350	HP:0001305	Dandy-Walker malformation	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional	114
HP:0002350	HP:0001305	Dandy-Walker malformation	1	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.	7
HP:0002350	HP:0001305	Dandy-Walker malformation	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	342
HP:0002350	HP:0001305	Dandy-Walker malformation	1	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0002350	HP:0001305	Dandy-Walker malformation	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent	17
HP:0002350	HP:0001305	Dandy-Walker malformation	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	515
HP:0002350	HP:0001305	Dandy-Walker malformation	1	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	193
HP:0002350	HP:0001305	Dandy-Walker malformation	1	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040283 - Occasional	101
HP:0002350	HP:0001305	Dandy-Walker malformation	1	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0002350	HP:0001305	Dandy-Walker malformation	1	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent
HP:0002350	HP:0001305	Dandy-Walker malformation	1	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0002350	HP:0001305	Dandy-Walker malformation	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0002350	HP:0001305	Dandy-Walker malformation	1	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	57
HP:0002350	HP:0001305	Dandy-Walker malformation	1	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	108
HP:0002350	HP:0001305	Dandy-Walker malformation	1	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49	HP:0040284 - Very rare	6
HP:0002350	HP:0001305	Dandy-Walker malformation	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0002350	HP:0006951	Retrocerebellar cyst	1	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	HP:0040283 - Occasional	18
HP:0002350	HP:0001305	Dandy-Walker malformation	1	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	91
HP:0002350	HP:0001305	Dandy-Walker malformation	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0002350	HP:0001305	Dandy-Walker malformation	1	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040282 - Frequent	3
HP:0002350	HP:0001305	Dandy-Walker malformation	1	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair	HP:0040283 - Occasional	3
HP:0002350	HP:0001305	Dandy-Walker malformation	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0002350	HP:0001305	Dandy-Walker malformation	1	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	304
HP:0002350	HP:0001305	Dandy-Walker malformation	1	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0002350	HP:0001305	Dandy-Walker malformation	1	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0002350	HP:0001305	Dandy-Walker malformation	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.	51
HP:0002350	HP:0001305	Dandy-Walker malformation	1	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome	.	51
HP:0002350	HP:0001305	Dandy-Walker malformation	1	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent	51
HP:0002350	HP:0001305	Dandy-Walker malformation	1	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome	HP:0040283 - Occasional	92
HP:0002350	HP:0001305	Dandy-Walker malformation	1	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.	209
HP:0002350	HP:0001305	Dandy-Walker malformation	1	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.	137
HP:0002350	HP:0001305	Dandy-Walker malformation	1	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency	HP:0040283 - Occasional	7
HP:0002350	HP:0001305	Dandy-Walker malformation	1	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD		7
HP:0002350	HP:0001305	Dandy-Walker malformation	1	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0002350	HP:0001305	Dandy-Walker malformation	1	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0002350	HP:0001305	Dandy-Walker malformation	1	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5	.	157
HP:0002350	HP:0001305	Dandy-Walker malformation	1	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	157
HP:0002350	HP:0001305	Dandy-Walker malformation	1	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0002350	HP:0001305	Dandy-Walker malformation	1	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	184
HP:0002350	HP:0001305	Dandy-Walker malformation	1	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	.	47
HP:0002350	HP:0001305	Dandy-Walker malformation	1	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath	.	70
HP:0002350	HP:0001305	Dandy-Walker malformation	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0002350	HP:0001305	Dandy-Walker malformation	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0002350	HP:0001305	Dandy-Walker malformation	1	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome	HP:0040282 - Frequent	270
HP:0002350	HP:0001305	Dandy-Walker malformation	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional	73
HP:0002350	HP:0001305	Dandy-Walker malformation	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0002350	HP:0006951	Retrocerebellar cyst	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0002350	HP:0006951	Retrocerebellar cyst	1	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		8
HP:0002350	HP:0001305	Dandy-Walker malformation	1	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0002350	HP:0001305	Dandy-Walker malformation	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional
HP:0002350	HP:0001305	Dandy-Walker malformation	1	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040283 - Occasional	113
HP:0002350	HP:0001305	Dandy-Walker malformation	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1	.	31
HP:0002350	HP:0001305	Dandy-Walker malformation	1	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	65
HP:0002350	HP:0001305	Dandy-Walker malformation	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional	9
HP:0002350	HP:0001305	Dandy-Walker malformation	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional	730
HP:0002350	HP:0001305	Dandy-Walker malformation	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional	1
HP:0002350	HP:0001305	Dandy-Walker malformation	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0002350	HP:0001305	Dandy-Walker malformation	1	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome	HP:0040282 - Frequent	167
HP:0002350	HP:0001305	Dandy-Walker malformation	1	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040283 - Occasional	196
HP:0002350	HP:0001305	Dandy-Walker malformation	1	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0002350	HP:0001305	Dandy-Walker malformation	1	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:0002350	HP:0001305	Dandy-Walker malformation	1	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	136
HP:0002350	HP:0001305	Dandy-Walker malformation	1	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0002350	HP:0001305	Dandy-Walker malformation	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0002350	HP:0001305	Dandy-Walker malformation	1	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	127
HP:0002350	HP:0001305	Dandy-Walker malformation	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0002350	HP:0001305	Dandy-Walker malformation	1	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked		185
HP:0002350	HP:0001305	Dandy-Walker malformation	1	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	72
HP:0002350	HP:0001305	Dandy-Walker malformation	1	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional
HP:0002350	HP:0001305	Dandy-Walker malformation	1	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0002350	HP:0001305	Dandy-Walker malformation	1	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome	HP:0040281 - Very frequent	157
HP:0002350	HP:0001305	Dandy-Walker malformation	1	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	HP:0040283 - Occasional	157
HP:0002350	HP:0001305	Dandy-Walker malformation	1	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040283 - Occasional	102
HP:0002350	HP:0001305	Dandy-Walker malformation	1	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic	HP:0040283 - Occasional	102
HP:0002350	HP:0001305	Dandy-Walker malformation	1	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional
HP:0002350	HP:0001305	Dandy-Walker malformation	1	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional	201
HP:0002350	HP:0006951	Retrocerebellar cyst	1	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0002350	HP:0006951	Retrocerebellar cyst	1	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0040283 - Occasional	55
HP:0002350	HP:0001305	Dandy-Walker malformation	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0002350	HP:0001305	Dandy-Walker malformation	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0002350	HP:0001305	Dandy-Walker malformation	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040283 - Occasional	37
HP:0002350	HP:0001305	Dandy-Walker malformation	1	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0002350	HP:0001305	Dandy-Walker malformation	1	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia	HP:0040283 - Occasional	11
HP:0002350	HP:0001305	Dandy-Walker malformation	1	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included	.	11
HP:0002350	HP:0001305	Dandy-Walker malformation	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040284 - Very rare	150
HP:0002350	HP:0001305	Dandy-Walker malformation	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0002350	HP:0001305	Dandy-Walker malformation	1	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	180
HP:0002350	HP:0001305	Dandy-Walker malformation	1	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	33
HP:0002350	HP:0001305	Dandy-Walker malformation	1	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	18
HP:0002350	HP:0001305	Dandy-Walker malformation	1	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0002350	HP:0001305	Dandy-Walker malformation	1	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	213
HP:0002350	HP:0001305	Dandy-Walker malformation	1	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0002350	HP:0001305	Dandy-Walker malformation	1	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	221
HP:0002350	HP:0001305	Dandy-Walker malformation	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0002350	HP:0001305	Dandy-Walker malformation	1	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	73
HP:0002350	HP:0001305	Dandy-Walker malformation	1	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.	3
HP:0002350	HP:0001305	Dandy-Walker malformation	1	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	109
HP:0002350	HP:0001305	Dandy-Walker malformation	1	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	167
HP:0002350	HP:0001305	Dandy-Walker malformation	1	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent
HP:0002350	HP:0001305	Dandy-Walker malformation	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	16
HP:0002350	HP:0001305	Dandy-Walker malformation	1	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	2
HP:0002350	HP:0001305	Dandy-Walker malformation	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040284 - Very rare	27
HP:0002350	HP:0001305	Dandy-Walker malformation	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	617
HP:0002350	HP:0001305	Dandy-Walker malformation	1	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4		617
HP:0002350	HP:0001305	Dandy-Walker malformation	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	87
HP:0002350	HP:0001305	Dandy-Walker malformation	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	1
HP:0002350	HP:0001305	Dandy-Walker malformation	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0002350	HP:0001305	Dandy-Walker malformation	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	47
HP:0002350	HP:0001305	Dandy-Walker malformation	1	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5	.	47
HP:0002350	HP:0001305	Dandy-Walker malformation	1	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0002350	HP:0006951	Retrocerebellar cyst	1	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040283 - Occasional	14
HP:0002350	HP:0001305	Dandy-Walker malformation	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	14
HP:0002350	HP:0001305	Dandy-Walker malformation	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0002350	HP:0001305	Dandy-Walker malformation	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	271
HP:0002350	HP:0001305	Dandy-Walker malformation	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome	HP:0040283 - Occasional	271
HP:0002350	HP:0001305	Dandy-Walker malformation	1	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0002350	HP:0001305	Dandy-Walker malformation	1	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	76
HP:0002350	HP:0001305	Dandy-Walker malformation	1	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	31
HP:0002350	HP:0001305	Dandy-Walker malformation	1	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	4
HP:0002350	HP:0001305	Dandy-Walker malformation	1	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16		39
HP:0002350	HP:0001305	Dandy-Walker malformation	1	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0002350	HP:0001305	Dandy-Walker malformation	1	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2	HP:0040283 - Occasional	45
HP:0002350	HP:0001305	Dandy-Walker malformation	1	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	33
HP:0002350	HP:0001305	Dandy-Walker malformation	1	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040282 - Frequent	33
HP:0002350	HP:0001305	Dandy-Walker malformation	1	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.	82
HP:0002350	HP:0001305	Dandy-Walker malformation	1	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	82
HP:0002350	HP:0001305	Dandy-Walker malformation	1	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	166
HP:0002350	HP:0001305	Dandy-Walker malformation	1	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3		166
HP:0002350	HP:0006951	Retrocerebellar cyst	1	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8		5
HP:0002350	HP:0001305	Dandy-Walker malformation	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent	2
HP:0002350	HP:0001305	Dandy-Walker malformation	1	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	106
HP:0002350	HP:0001305	Dandy-Walker malformation	1	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	HP:0040283 - Occasional	14
HP:0002350	HP:0001305	Dandy-Walker malformation	1	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	2
HP:0002350	HP:0001305	Dandy-Walker malformation	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0002350	HP:0001305	Dandy-Walker malformation	1	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:0002350	HP:0001305	Dandy-Walker malformation	1	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0002350	HP:0001305	Dandy-Walker malformation	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040281 - Very frequent	83
HP:0002350	HP:0001305	Dandy-Walker malformation	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.	83
HP:0002350	HP:0001305	Dandy-Walker malformation	1	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	136
HP:0002350	HP:0001305	Dandy-Walker malformation	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	HP:0040283 - Occasional	14
HP:0002350	HP:0001305	Dandy-Walker malformation	1	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies	.	27
HP:0002350	HP:0001305	Dandy-Walker malformation	1	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6	HP:0040283 - Occasional	5
HP:0002350	HP:0001305	Dandy-Walker malformation	1	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0002350	HP:0006951	Retrocerebellar cyst	1	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis	.	5
HP:0002350	HP:0006951	Retrocerebellar cyst	1	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040283 - Occasional	5

Genes (156) :AFF3 AGTPBP1 AHDC1 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 COL3A1 COL4A1 CPT2 CRPPA CSF1R CSPP1 DAG1 DENND5A DHCR7 DOCK6 DOK7 DPF2 DPH1 DPYSL5 DYNC2H1 DYNC2I1 DYNC2I2 EBP ESCO2 EVC EVC2 EXOSC3 EXOSC8 EXOSC9 FAR1 FGFR1 FKRP FKTN FLVCR2 FTO GJB2 GJB6 GLI3 GMPPB GPC3 GPC4 GRIA3 GRM1 GTPBP2 H19-ICR HRAS HYLS1 IFT80 IGF2 KCNQ1 KCNQ1OT1 KIAA0586 KIF7 KRAS LAMA1 LARGE1 LONP1 MAB21L1 MID1 MKS1 MTM1 MUSK MYOD1 NPHP3 NRAS NUP88 OFD1 OPHN1 PDHA1 PHGDH PIEZO2 PIGN PLCH1 PLG PMM2 POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 PPP1CB RAPSN RNF113A RPGRIP1 RPGRIP1L RXYLT1 SEMA3E SEPSECS SLC18A3 SLC25A46 SLC35A2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMG9 SNX14 SOX11 SOX4 TBC1D24 TCTN1 TCTN2 TCTN3 TMEM107 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TMTC3 TRIP13 TSEN15 TSEN2 TSEN34 TSEN54 TUBA1A TUBB TXNDC15 USP9X VPS51 VRK1 WASHC5 WDR35 WDR73 WDR81 ZIC1 ZSWIM6

Diseases (129) :OMIM:619297 ORPHA:2254 ORPHA:412069 OMIM:615829 ORPHA:79321 OMIM:304340 ORPHA:1465 OMIM:614607 OMIM:135900 OMIM:617622 OMIM:605039 ORPHA:97297 ORPHA:357074 OMIM:219200 ORPHA:2834 ORPHA:79500 OMIM:615181 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 OMIM:618343 ORPHA:228305 ORPHA:370980 OMIM:614643 OMIM:618476 ORPHA:397715 ORPHA:370997 OMIM:616538 OMIM:617281 OMIM:270400 OMIM:614219 ORPHA:994 ORPHA:459061 OMIM:616901 OMIM:619435 OMIM:613091 ORPHA:93271 OMIM:302960 OMIM:300960 ORPHA:401973 ORPHA:2319 OMIM:225500 OMIM:614678 ORPHA:438178 OMIM:616154 OMIM:613001 ORPHA:370959 OMIM:236670 OMIM:613153 OMIM:606612 OMIM:253800 OMIM:225790 OMIM:612938 ORPHA:477 ORPHA:36 ORPHA:373 ORPHA:364028 OMIM:614831 OMIM:617988 ORPHA:2612 OMIM:236680 ORPHA:370022 OMIM:615960 OMIM:613154 ORPHA:79243 OMIM:618479 ORPHA:2745 OMIM:249000 OMIM:310400 OMIM:267010 ORPHA:3032 OMIM:208540 OMIM:249400 OMIM:311200 ORPHA:2750 OMIM:300486 ORPHA:137831 OMIM:256520 OMIM:248700 ORPHA:2059 OMIM:619895 ORPHA:722 OMIM:217090 ORPHA:79318 OMIM:264090 OMIM:253280 OMIM:613151 OMIM:613150 OMIM:617506 OMIM:300953 ORPHA:2524 ORPHA:356961 OMIM:614609 OMIM:616938 OMIM:616920 ORPHA:397709 OMIM:220500 OMIM:614465 OMIM:603194 ORPHA:2752 OMIM:614424 OMIM:607361 OMIM:617255 OMIM:156610 OMIM:300968 ORPHA:480880 OMIM:618606 OMIM:220210 OMIM:251300 OMIM:617967 OMIM:616602 OMIM:618736 OMIM:603671 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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