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:
Abnormal lateral ventricle morphology (HP:0030047)

..Starting node
..Colpocephaly (HP:0030048)

Term ID:

30048

Name:

Colpocephaly

Synonym:

Definition:

Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles.

Comments:

Reference:

HP:0030048

Genes and Diseases:

Child Nodes:

Sister Nodes:

Lateral ventricle dilatation (HP:0006956)

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:0030048	HP:0030048	Colpocephaly	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040282 - Frequent	102
HP:0030048	HP:0030048	Colpocephaly	0	ARSI CL E G H	340075	32521	ORPHA:401815	Autosomal recessive spastic paraplegia type 66	HP:0040282 - Frequent	1
HP:0030048	HP:0030048	Colpocephaly	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.	6
HP:0030048	HP:0030048	Colpocephaly	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0030048	HP:0030048	Colpocephaly	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0030048	HP:0030048	Colpocephaly	0	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC		2
HP:0030048	HP:0030048	Colpocephaly	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040281 - Very frequent	36
HP:0030048	HP:0030048	Colpocephaly	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.	157
HP:0030048	HP:0030048	Colpocephaly	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.	11
HP:0030048	HP:0030048	Colpocephaly	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0030048	HP:0030048	Colpocephaly	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.	141
HP:0030048	HP:0030048	Colpocephaly	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0030048	HP:0030048	Colpocephaly	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0030048	HP:0030048	Colpocephaly	0	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies	.	29
HP:0030048	HP:0030048	Colpocephaly	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.	2
HP:0030048	HP:0030048	Colpocephaly	0	NDE1 CL E G H	54820	17619	OMIM:614019	Lissencephaly 4		96
HP:0030048	HP:0030048	Colpocephaly	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.	3
HP:0030048	HP:0030048	Colpocephaly	0	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0030048	HP:0030048	Colpocephaly	0	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)	.	75
HP:0030048	HP:0030048	Colpocephaly	0	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0030048	HP:0030048	Colpocephaly	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0030048	HP:0030048	Colpocephaly	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0030048	HP:0030048	Colpocephaly	0	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0030048	HP:0030048	Colpocephaly	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0030048	HP:0030048	Colpocephaly	0	TUBA8 CL E G H	51807	12410	ORPHA:250972	Polymicrogyria with optic nerve hypoplasia	HP:0040281 - Very frequent	21
HP:0030048	HP:0030048	Colpocephaly	0	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies		4
HP:0030048	HP:0030048	Colpocephaly	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4

Genes (27) :ANKRD11 ARSI COX7B CSPP1 DHCR7 DHX37 ERMARD FANCI HCCS HNRNPH1 KAT6B KDM1A KIAA0586 MPDZ NCAPG2 NDE1 NDUFB11 NRCAM PEX10 PLXNA1 PPP1R12A RNU4ATAC SEC31A STAG2 TUBA8 ZNF148 ZNF462

Diseases (24) :ORPHA:261250 ORPHA:401815 OMIM:309801 ORPHA:397715 OMIM:270400 OMIM:618731 ORPHA:75857 OMIM:609053 OMIM:620083 OMIM:606170 ORPHA:477993 OMIM:615219 OMIM:618460 OMIM:614019 OMIM:619833 OMIM:614870 OMIM:619955 OMIM:618820 OMIM:210710 OMIM:618651 OMIM:301043 ORPHA:250972 OMIM:617260 OMIM:618619

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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