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:
Morphological central nervous system abnormality (HP:0002011)

Parent Node:
Central nervous system cyst (HP:0030724)

..Starting node
..Intracranial cystic lesion (HP:0010576)

Term ID:

10576

Name:

Intracranial cystic lesion

Synonym:

Cerebral cystic malformation

Definition:

A cystic lesion originating within the brain.

Comments:

Reference:

HP:0010576

Genes and Diseases:

Child Nodes:

........

Cerebellar cyst (HP:0002350)

................... HP:0001305 Dandy-Walker malformation
................... HP:0006951 Retrocerebellar cyst

........

Subependymal cysts (HP:0002416)

........

Basal ganglia cysts (HP:0006799)

........

Periventricular cysts (HP:0007109)

................... HP:0000933 Posterior fossa cyst at the fourth ventricle

........

Posterior fossa cyst (HP:0007291)

................... HP:0000933 Posterior fossa cyst at the fourth ventricle

........

Intracranial epidermoid cyst (HP:0012096)

........

Intracranial dermoid cyst (HP:0012097)

Sister Nodes:

Neurenteric cyst (HP:0030725)

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:0010576	HP:0010576	Intracranial cystic lesion	0	BRAF CL E G H	673	54595				ORPHA	1	1182	1097	164757
HP:0010576	HP:0010576	Intracranial cystic lesion	0	CTNNB1 CL E G H	1499	54595				ORPHA	1	624	2514	116806
HP:0010576	HP:0410278	Pituitary gland cyst	1	BRAF CL E G H	673	54595				ORPHA	1	1182	1097	164757
HP:0010576	HP:0032578	Third ventricle colloid cyst	1	BRAF CL E G H	673	54595				ORPHA	1	1182	1097	164757
HP:0010576	HP:0002350	Cerebellar cyst	1	BRAF CL E G H	673	54595				ORPHA	1	1182	1097	164757
HP:0010576	HP:0012096	Intracranial epidermoid cyst	1	BRAF CL E G H	673	54595				ORPHA	1	1182	1097	164757
HP:0010576	HP:0007291	Posterior fossa cyst	1	BRAF CL E G H	673	54595				ORPHA	1	1182	1097	164757
HP:0010576	HP:0012489	Suprasellar arachnoid cyst	1	BRAF CL E G H	673	54595				ORPHA	1	1182	1097	164757
HP:0010576	HP:0006799	Basal ganglia cysts	1	BRAF CL E G H	673	54595				ORPHA	1	1182	1097	164757
HP:0010576	HP:0012488	Intraventricular arachnoid cyst	1	BRAF CL E G H	673	54595				ORPHA	1	1182	1097	164757
HP:0010576	HP:0007109	Periventricular cysts	1	BRAF CL E G H	673	54595				ORPHA	1	1182	1097	164757
HP:0010576	HP:0012097	Intracranial dermoid cyst	1	BRAF CL E G H	673	54595				ORPHA	1	1182	1097	164757
HP:0010576	HP:0002416	Subependymal cysts	1	BRAF CL E G H	673	54595				ORPHA	1	1182	1097	164757
HP:0010576	HP:0032578	Third ventricle colloid cyst	1	CTNNB1 CL E G H	1499	54595				ORPHA	1	624	2514	116806
HP:0010576	HP:0002350	Cerebellar cyst	1	CTNNB1 CL E G H	1499	54595				ORPHA	1	624	2514	116806
HP:0010576	HP:0410278	Pituitary gland cyst	1	CTNNB1 CL E G H	1499	54595				ORPHA	1	624	2514	116806
HP:0010576	HP:0007291	Posterior fossa cyst	1	CTNNB1 CL E G H	1499	54595				ORPHA	1	624	2514	116806
HP:0010576	HP:0012489	Suprasellar arachnoid cyst	1	CTNNB1 CL E G H	1499	54595				ORPHA	1	624	2514	116806
HP:0010576	HP:0006799	Basal ganglia cysts	1	CTNNB1 CL E G H	1499	54595				ORPHA	1	624	2514	116806
HP:0010576	HP:0012096	Intracranial epidermoid cyst	1	CTNNB1 CL E G H	1499	54595				ORPHA	1	624	2514	116806
HP:0010576	HP:0012488	Intraventricular arachnoid cyst	1	CTNNB1 CL E G H	1499	54595				ORPHA	1	624	2514	116806
HP:0010576	HP:0007109	Periventricular cysts	1	CTNNB1 CL E G H	1499	54595				ORPHA	1	624	2514	116806
HP:0010576	HP:0012097	Intracranial dermoid cyst	1	CTNNB1 CL E G H	1499	54595				ORPHA	1	624	2514	116806
HP:0010576	HP:0002416	Subependymal cysts	1	CTNNB1 CL E G H	1499	54595				ORPHA	1	624	2514	116806
HP:0010576	HP:0012487	Cerebellopontine angle arachnoid cyst	2	BRAF CL E G H	673	54595				ORPHA	1	1182	1097	164757
HP:0010576	HP:0001305	Dandy-Walker malformation	2	BRAF CL E G H	673	54595				ORPHA	1	1182	1097	164757
HP:0010576	HP:0000933	Posterior fossa cyst at the fourth ventricle	2	BRAF CL E G H	673	54595				ORPHA	1	1182	1097	164757
HP:0010576	HP:0006951	Retrocerebellar cyst	2	BRAF CL E G H	673	54595				ORPHA	1	1182	1097	164757
HP:0010576	HP:0012487	Cerebellopontine angle arachnoid cyst	2	CTNNB1 CL E G H	1499	54595				ORPHA	1	624	2514	116806
HP:0010576	HP:0001305	Dandy-Walker malformation	2	CTNNB1 CL E G H	1499	54595				ORPHA	1	624	2514	116806
HP:0010576	HP:0000933	Posterior fossa cyst at the fourth ventricle	2	CTNNB1 CL E G H	1499	54595				ORPHA	1	624	2514	116806
HP:0010576	HP:0006951	Retrocerebellar cyst	2	CTNNB1 CL E G H	1499	54595				ORPHA	1	624	2514	116806
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010576	HP:0010576	Intracranial cystic lesion	0	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	0	1401	30497	611254
HP:0010576	HP:0410278	Pituitary gland cyst	1	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	0	1401	30497	611254
HP:0010576	HP:0032578	Third ventricle colloid cyst	1	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	0	1401	30497	611254
HP:0010576	HP:0002350	Cerebellar cyst	1	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	0	1401	30497	611254
HP:0010576	HP:0012096	Intracranial epidermoid cyst	1	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	0	1401	30497	611254
HP:0010576	HP:0007291	Posterior fossa cyst	1	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	0	1401	30497	611254
HP:0010576	HP:0012489	Suprasellar arachnoid cyst	1	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	0	1401	30497	611254
HP:0010576	HP:0006799	Basal ganglia cysts	1	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	0	1401	30497	611254
HP:0010576	HP:0012097	Intracranial dermoid cyst	1	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	0	1401	30497	611254
HP:0010576	HP:0012488	Intraventricular arachnoid cyst	1	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	0	1401	30497	611254
HP:0010576	HP:0007109	Periventricular cysts	1	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	0	1401	30497	611254
HP:0010576	HP:0002416	Subependymal cysts	1	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	0	1401	30497	611254
HP:0010576	HP:0012487	Cerebellopontine angle arachnoid cyst	2	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	0	1401	30497	611254
HP:0010576	HP:0001305	Dandy-Walker malformation	2	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	0	1401	30497	611254
HP:0010576	HP:0006951	Retrocerebellar cyst	2	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	0	1401	30497	611254
HP:0010576	HP:0000933	Posterior fossa cyst at the fourth ventricle	2	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	0	1401	30497	611254

Genes (138) :ABAT ADAR AHDC1 AP1S2 ARID1A ARID1B ARID2 ASXL1 ATP6 ATP6V0A2 ATP6V1A ATP6V1E1 B3GALNT2 B4GALT1 B4GAT1 B9D1 B9D2 BRAF BUB1 BUB1B BUB3 CC2D2A CCDC22 CDKN1C CEP120 CEP290 CEP55 CEP57 CHD7 COL4A1 CPLX1 CPT2 CRPPA CSPP1 CTBP1 CTNNB1 D2HGDH DAG1 DENND5A DHCR7 DOCK6 DOK7 DPF2 DPH1 DYNC2H1 EBP EVC EVC2 EXOSC3 FGFR1 FGFR2 FGFRL1 FKRP FKTN FLVCR2 FTO GDF6 GFM1 GLI3 GLUL GPC3 GPC4 GRM1 H19 H19-ICR HRAS HYLS1 IFT80 IGF2 KCNQ1 KCNQ1OT1 KIAA0586 KIF7 KLHL7 KRAS LAMA1 LARGE1 LETM1 LIPT2 MKS1 MUSK MYOD1 NPHP3 NRAS NSD2 NUP62 OCRL OFD1 OPHN1 PDHA1 PDHX PEX1 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 TXN2 USP9X VSX1 WASHC5 WDPCP WDR34 WDR35 WDR60 WDR73 WDR81 WHCR ZIC1 ZSWIM6

Diseases (110) :54595 200990 613163 225154 615181 194190 608836 370980 615636 600721 616538 613091 614678 101200 606612 236670 253800 118100 609060 610015 615960 617668 309000 312170 245349 214100 613151 253280 613150 2752 478029 616811 614195 220210 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 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 614424 607361 156610 300968 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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