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	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0002350	HP:0002350	Cerebellar cyst	0	B3GALNT2 CL E G H	148789	615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	615181	C3554638	OMIM	1	587	28596	610194
HP:0002350	HP:0002350	Cerebellar cyst	0	DAG1 CL E G H	1605	616538	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9	616538	C4225291	OMIM	1	630	2666	128239
HP:0002350	HP:0002350	Cerebellar cyst	0	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0002350	HP:0002350	Cerebellar cyst	0	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	950	17997	606596
HP:0002350	HP:0002350	Cerebellar cyst	0	FKTN CL E G H	2218	253800	Fukuyama congenital muscular dystrophy	253800	C0410174	OMIM	1	914	3622	607440
HP:0002350	HP:0002350	Cerebellar cyst	0	LAMA1 CL E G H	284217	615960	Poretti-Boltshauser syndrome	615960	C4014821	OMIM	1	1264	6481	150320
HP:0002350	HP:0002350	Cerebellar cyst	0	POMGNT1 CL E G H	55624	613151	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3	613151	C3150412	OMIM	1	1174	19139	606822
HP:0002350	HP:0002350	Cerebellar cyst	0	POMGNT1 CL E G H	55624	253280	Muscle eye brain disease	253280	C0457133	OMIM	1	1174	19139	606822
HP:0002350	HP:0002350	Cerebellar cyst	0	POMT2 CL E G H	29954	613150	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2	613150	C3150411	OMIM	1	936	19743	607439
HP:0002350	HP:0006951	Retrocerebellar cyst	1	B3GALNT2 CL E G H	148789	615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	615181	C3554638	OMIM	1	587	28596	610194
HP:0002350	HP:0001305	Dandy-Walker malformation	1	B3GALNT2 CL E G H	148789	615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	615181	C3554638	OMIM	1	587	28596	610194
HP:0002350	HP:0006951	Retrocerebellar cyst	1	DAG1 CL E G H	1605	616538	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9	616538	C4225291	OMIM	1	630	2666	128239
HP:0002350	HP:0001305	Dandy-Walker malformation	1	DAG1 CL E G H	1605	616538	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9	616538	C4225291	OMIM	1	630	2666	128239
HP:0002350	HP:0006951	Retrocerebellar cyst	1	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0002350	HP:0001305	Dandy-Walker malformation	1	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0002350	HP:0006951	Retrocerebellar cyst	1	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	950	17997	606596
HP:0002350	HP:0001305	Dandy-Walker malformation	1	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	950	17997	606596
HP:0002350	HP:0006951	Retrocerebellar cyst	1	FKTN CL E G H	2218	253800	Fukuyama congenital muscular dystrophy	253800	C0410174	OMIM	1	914	3622	607440
HP:0002350	HP:0001305	Dandy-Walker malformation	1	FKTN CL E G H	2218	253800	Fukuyama congenital muscular dystrophy	253800	C0410174	OMIM	1	914	3622	607440
HP:0002350	HP:0001305	Dandy-Walker malformation	1	LAMA1 CL E G H	284217	615960	Poretti-Boltshauser syndrome	615960	C4014821	OMIM	1	1264	6481	150320
HP:0002350	HP:0006951	Retrocerebellar cyst	1	LAMA1 CL E G H	284217	615960	Poretti-Boltshauser syndrome	615960	C4014821	OMIM	1	1264	6481	150320
HP:0002350	HP:0006951	Retrocerebellar cyst	1	POMGNT1 CL E G H	55624	613151	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3	613151	C3150412	OMIM	1	1174	19139	606822
HP:0002350	HP:0001305	Dandy-Walker malformation	1	POMGNT1 CL E G H	55624	613151	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3	613151	C3150412	OMIM	1	1174	19139	606822
HP:0002350	HP:0001305	Dandy-Walker malformation	1	POMGNT1 CL E G H	55624	253280	Muscle eye brain disease	253280	C0457133	OMIM	1	1174	19139	606822
HP:0002350	HP:0006951	Retrocerebellar cyst	1	POMGNT1 CL E G H	55624	253280	Muscle eye brain disease	253280	C0457133	OMIM	1	1174	19139	606822
HP:0002350	HP:0001305	Dandy-Walker malformation	1	POMT2 CL E G H	29954	613150	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2	613150	C3150411	OMIM	1	936	19743	607439
HP:0002350	HP:0006951	Retrocerebellar cyst	1	POMT2 CL E G H	29954	613150	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2	613150	C3150411	OMIM	1	936	19743	607439
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002350	HP:0002350	Cerebellar cyst	0	DYNC2H1 CL E G H	79659	613091	Short-rib thoracic dysplasia 3 with or without polydactyly	613091	C2751311	OMIM	0	1961	2962	603297
HP:0002350	HP:0002350	Cerebellar cyst	0	FKRP CL E G H	79147	370980				ORPHA	0	950	17997	606596
HP:0002350	HP:0002350	Cerebellar cyst	0	FKTN CL E G H	2218	370980				ORPHA	0	914	3622	607440
HP:0002350	HP:0002350	Cerebellar cyst	0	ISPD CL E G H	729920	370980				ORPHA	0	733	37276	614631
HP:0002350	HP:0002350	Cerebellar cyst	0	POMT1 CL E G H	10585	370980				ORPHA	0	906	9202	607423
HP:0002350	HP:0006951	Retrocerebellar cyst	1	DYNC2H1 CL E G H	79659	613091	Short-rib thoracic dysplasia 3 with or without polydactyly	613091	C2751311	OMIM	0	1961	2962	603297
HP:0002350	HP:0001305	Dandy-Walker malformation	1	DYNC2H1 CL E G H	79659	613091	Short-rib thoracic dysplasia 3 with or without polydactyly	613091	C2751311	OMIM	0	1961	2962	603297
HP:0002350	HP:0006951	Retrocerebellar cyst	1	FKRP CL E G H	79147	370980				ORPHA	0	950	17997	606596
HP:0002350	HP:0001305	Dandy-Walker malformation	1	FKRP CL E G H	79147	370980				ORPHA	0	950	17997	606596
HP:0002350	HP:0001305	Dandy-Walker malformation	1	FKTN CL E G H	2218	370980				ORPHA	0	914	3622	607440
HP:0002350	HP:0006951	Retrocerebellar cyst	1	FKTN CL E G H	2218	370980				ORPHA	0	914	3622	607440
HP:0002350	HP:0006951	Retrocerebellar cyst	1	ISPD CL E G H	729920	370980				ORPHA	0	733	37276	614631
HP:0002350	HP:0001305	Dandy-Walker malformation	1	ISPD CL E G H	729920	370980				ORPHA	0	733	37276	614631
HP:0002350	HP:0006951	Retrocerebellar cyst	1	POMT1 CL E G H	10585	370980				ORPHA	0	906	9202	607423
HP:0002350	HP:0001305	Dandy-Walker malformation	1	POMT1 CL E G H	10585	370980				ORPHA	0	906	9202	607423

Genes (113) :AHDC1 AP1S2 ARID1A ARID1B ARID2 ASXL1 ATP6V0A2 ATP6V1A ATP6V1E1 B3GALNT2 B4GALT1 B4GAT1 B9D1 B9D2 BUB1 BUB1B BUB3 CC2D2A CCDC22 CDKN1C CEP120 CEP290 CEP55 CEP57 CHD7 COL4A1 CRPPA CSPP1 DAG1 DENND5A DHCR7 DOCK6 DOK7 DPF2 DPH1 DYNC2H1 EBP EVC EVC2 EXOSC3 FGFR1 FKRP FKTN FLVCR2 FTO GLI3 GPC3 GPC4 GRM1 H19 H19-ICR HRAS HYLS1 IFT80 IGF2 KCNQ1 KCNQ1OT1 KIAA0586 KIF7 KLHL7 KRAS LAMA1 LARGE1 MKS1 MUSK MYOD1 NPHP3 NRAS OFD1 OPHN1 PHGDH PIEZO2 PIGN PLG POMGNT1 POMGNT2 POMK POMT1 POMT2 PPP1CB PSAT1 RAPSN RNF113A RPGRIP1 RPGRIP1L RXYLT1 SEMA3E SMARCA4 SMARCB1 SMARCE1 SMG9 SOX11 SUFU TBC1D24 TCTN2 TMEM107 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TRIP13 TUBB USP9X WASHC5 WDPCP WDR34 WDR35 WDR60 WDR73 WDR81 ZIC1 ZSWIM6

Diseases (90) :615181 370980 616538 613091 614678 606612 253800 615960 613151 253280 613150 615829 304340 1465 135900 97297 605039 2834 357074 219200 899 79332 607091 615287 564 1052 257300 300963 7 130650 616300 611134 138 614643 397715 617281 270400 614219 994 616901 93271 302960 300960 225500 613001 613153 236670 225790 612938 36 373 614831 2612 236680 613154 249000 3032 267010 208540 249400 2750 137831 300486 2671 256520 248700 2059 97231 722 217090 617506 300953 614609 616938 616920 79500 220500 614465 603194 2752 614424 607361 156610 300968 220210 251300 617967 616602 603671 1827

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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