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 cerebral ventricle morphology (HP:0002118)

Parent Node:
Ventriculomegaly (HP:0002119)

..Starting node
..Enlarged cisterna magna (HP:0002280)

Term ID:

2280

Name:

Enlarged cisterna magna

Synonym:

Large cisterna magna; Mega cisterna magna

Definition:

Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata.

Comments:

Reference:

HP:0002280

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dilated fourth ventricle (HP:0002198)

Dilated third ventricle (HP:0007082)

Enlarged fossa interpeduncularis (HP:0100951)

Enlarged interhemispheric fissure (HP:0100953)

Enlarged sylvian cistern (HP:0100952)

Lateral ventricle dilatation (HP:0006956)

Mild fetal ventriculomegaly (HP:0010952)

Progressive ventriculomegaly (HP:0007100)

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:0002280	HP:0002280	Enlarged cisterna magna	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare	200
HP:0002280	HP:0002280	Enlarged cisterna magna	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0002280	HP:0002280	Enlarged cisterna magna	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	89
HP:0002280	HP:0002280	Enlarged cisterna magna	0	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional	227
HP:0002280	HP:0002280	Enlarged cisterna magna	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	1
HP:0002280	HP:0002280	Enlarged cisterna magna	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0002280	HP:0002280	Enlarged cisterna magna	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040282 - Frequent	7
HP:0002280	HP:0002280	Enlarged cisterna magna	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0002280	HP:0002280	Enlarged cisterna magna	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0002280	HP:0002280	Enlarged cisterna magna	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0002280	HP:0002280	Enlarged cisterna magna	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040282 - Frequent	52
HP:0002280	HP:0002280	Enlarged cisterna magna	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0002280	HP:0002280	Enlarged cisterna magna	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0002280	HP:0002280	Enlarged cisterna magna	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0002280	HP:0002280	Enlarged cisterna magna	0	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome		1
HP:0002280	HP:0002280	Enlarged cisterna magna	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0002280	HP:0002280	Enlarged cisterna magna	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0002280	HP:0002280	Enlarged cisterna magna	0	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C		4
HP:0002280	HP:0002280	Enlarged cisterna magna	0	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	7
HP:0002280	HP:0002280	Enlarged cisterna magna	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002280	HP:0002280	Enlarged cisterna magna	0	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I	HP:0040283 - Occasional	233
HP:0002280	HP:0002280	Enlarged cisterna magna	0	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3	HP:0040283 - Occasional	63
HP:0002280	HP:0002280	Enlarged cisterna magna	0	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0002280	HP:0002280	Enlarged cisterna magna	0	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0002280	HP:0002280	Enlarged cisterna magna	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0002280	HP:0002280	Enlarged cisterna magna	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0002280	HP:0002280	Enlarged cisterna magna	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0002280	HP:0002280	Enlarged cisterna magna	0	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0002280	HP:0002280	Enlarged cisterna magna	0	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2		43
HP:0002280	HP:0002280	Enlarged cisterna magna	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	544
HP:0002280	HP:0002280	Enlarged cisterna magna	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0002280	HP:0002280	Enlarged cisterna magna	0	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10	.	201
HP:0002280	HP:0002280	Enlarged cisterna magna	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0002280	HP:0002280	Enlarged cisterna magna	0	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0040283 - Occasional	55
HP:0002280	HP:0002280	Enlarged cisterna magna	0	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66	.
HP:0002280	HP:0002280	Enlarged cisterna magna	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0002280	HP:0002280	Enlarged cisterna magna	0	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF		8
HP:0002280	HP:0002280	Enlarged cisterna magna	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0002280	HP:0002280	Enlarged cisterna magna	0	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional	6
HP:0002280	HP:0002280	Enlarged cisterna magna	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0002280	HP:0002280	Enlarged cisterna magna	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0002280	HP:0002280	Enlarged cisterna magna	0	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3	HP:0040283 - Occasional	7
HP:0002280	HP:0002280	Enlarged cisterna magna	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare	35
HP:0002280	HP:0002280	Enlarged cisterna magna	0	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0002280	HP:0002280	Enlarged cisterna magna	0	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12		18
HP:0002280	HP:0002280	Enlarged cisterna magna	0	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	.	213
HP:0002280	HP:0002280	Enlarged cisterna magna	0	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F		170
HP:0002280	HP:0002280	Enlarged cisterna magna	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3		85
HP:0002280	HP:0002280	Enlarged cisterna magna	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0002280	HP:0002280	Enlarged cisterna magna	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040283 - Occasional	3
HP:0002280	HP:0002280	Enlarged cisterna magna	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	60
HP:0002280	HP:0002280	Enlarged cisterna magna	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0002280	HP:0002280	Enlarged cisterna magna	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0002280	HP:0002280	Enlarged cisterna magna	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0002280	HP:0002280	Enlarged cisterna magna	0	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0002280	HP:0002280	Enlarged cisterna magna	0	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31		1
HP:0002280	HP:0002280	Enlarged cisterna magna	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0002280	HP:0002280	Enlarged cisterna magna	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A		32

Genes (53) :ACADVL AFF3 ALDH18A1 ALDH7A1 APC2 BANF1 BRF1 CDH2 CNOT3 COG1 CPLANE1 CSF1R CSPP1 CTU2 DPH5 EDEM3 EXOSC8 FAR1 FBXO28 FLNB FOXC1 IL6ST KATNB1 KIAA0586 MAN2B1 MAPKAPK5 NDUFC2 NEK8 NSD1 OFD1 OPHN1 PACS2 PIGU PITX1 PLCH1 PLPBP PMM2 PMPCA POGZ POLR2A POMK POMT1 PRX RAB18 RAC1 SETD2 SH2B1 SH3PXD2B SLC35A2 SLC5A6 TIMMDC1 VPS51 VRK1

Diseases (53) :ORPHA:26793 OMIM:619297 ORPHA:447753 ORPHA:3006 ORPHA:821 OMIM:614008 ORPHA:444072 OMIM:616202 OMIM:618929 OMIM:618672 ORPHA:263508 OMIM:277170 OMIM:618476 ORPHA:397715 OMIM:618142 OMIM:620070 OMIM:619493 OMIM:616081 OMIM:619777 ORPHA:1190 OMIM:601631 OMIM:619751 OMIM:616212 OMIM:248500 OMIM:619869 OMIM:619170 OMIM:615415 OMIM:117550 OMIM:300804 OMIM:300486 ORPHA:137831 OMIM:618067 OMIM:618590 OMIM:119800 OMIM:619895 OMIM:212065 ORPHA:79318 ORPHA:1170 ORPHA:468678 OMIM:618603 OMIM:616094 OMIM:613155 OMIM:614895 OMIM:614222 OMIM:617751 ORPHA:500159 ORPHA:261197 OMIM:249420 OMIM:300896 OMIM:618973 OMIM:618251 OMIM:618606 OMIM:607596

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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