Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Cerebellar malformation (HP:0002438)

Grandparent Node:
Intracranial cystic lesion (HP:0010576)

Parent Node:
Cerebellar cyst (HP:0002350)

..Starting node
..Retrocerebellar cyst (HP:0006951)

Term ID:

6951

Name:

Retrocerebellar cyst

Synonym:

Definition:

Comments:

Reference:

HP:0006951

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dandy-Walker malformation (HP:0001305)

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:0006951	HP:0006951	Retrocerebellar cyst	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040283 - Occasional	36
HP:0006951	HP:0006951	Retrocerebellar cyst	0	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome	HP:0040283 - Occasional	36
HP:0006951	HP:0006951	Retrocerebellar cyst	0	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	HP:0040283 - Occasional	18
HP:0006951	HP:0006951	Retrocerebellar cyst	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0006951	HP:0006951	Retrocerebellar cyst	0	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		8
HP:0006951	HP:0006951	Retrocerebellar cyst	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0006951	HP:0006951	Retrocerebellar cyst	0	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0040283 - Occasional	55
HP:0006951	HP:0006951	Retrocerebellar cyst	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040283 - Occasional	14
HP:0006951	HP:0006951	Retrocerebellar cyst	0	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8		5
HP:0006951	HP:0006951	Retrocerebellar cyst	0	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis	.	5
HP:0006951	HP:0006951	Retrocerebellar cyst	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040283 - Occasional	5

Genes (8) :AHDC1 DOCK6 GRIA3 GRM1 OPHN1 SNX14 TMTC3 ZSWIM6

Diseases (11) :ORPHA:412069 OMIM:615829 OMIM:614219 ORPHA:364028 OMIM:614831 OMIM:300486 ORPHA:137831 ORPHA:397709 OMIM:617255 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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