Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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:
Abnormal cerebral morphology (HP:0002060)

Grandparent Node:
Aplasia/Hypoplasia involving the central nervous system (HP:0002977)

Grandparent Node:
Brain atrophy (HP:0012444)

Parent Node:
Atrophy/Degeneration affecting the cerebrum (HP:0007369)

..Starting node
..Subcortical cerebral atrophy (HP:0012157)

Term ID:

12157

Name:

Subcortical cerebral atrophy

Synonym:

Definition:

Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter.

Comments:

Reference:

HP:0012157

Genes and Diseases:

Child Nodes:

........

Pallidal degeneration (HP:0007132)

Sister Nodes:

Cerebral atrophy (HP:0002059)

Cerebral cortical neurodegeneration (HP:0006964)

Cerebral degeneration (HP:0007313)

Corpus callosum atrophy (HP:0007371)

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:0012157	HP:0012157	Subcortical cerebral atrophy	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040282 - Frequent	72
HP:0012157	HP:0012157	Subcortical cerebral atrophy	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040282 - Frequent	123
HP:0012157	HP:0012157	Subcortical cerebral atrophy	0	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	530
HP:0012157	HP:0012157	Subcortical cerebral atrophy	0	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040284 - Very rare	37
HP:0012157	HP:0012157	Subcortical cerebral atrophy	0	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional	636
HP:0012157	HP:0012157	Subcortical cerebral atrophy	0	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional	15
HP:0012157	HP:0012157	Subcortical cerebral atrophy	0	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG		64
HP:0012157	HP:0012157	Subcortical cerebral atrophy	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional	223
HP:0012157	HP:0012157	Subcortical cerebral atrophy	0	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional	33
HP:0012157	HP:0012157	Subcortical cerebral atrophy	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent	172
HP:0012157	HP:0012157	Subcortical cerebral atrophy	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency		115
HP:0012157	HP:0012157	Subcortical cerebral atrophy	0	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional	90
HP:0012157	HP:0012157	Subcortical cerebral atrophy	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent	196
HP:0012157	HP:0012157	Subcortical cerebral atrophy	0	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional
HP:0012157	HP:0012157	Subcortical cerebral atrophy	0	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form	HP:0040283 - Occasional	136
HP:0012157	HP:0012157	Subcortical cerebral atrophy	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0012157	HP:0012157	Subcortical cerebral atrophy	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:0012157	HP:0012157	Subcortical cerebral atrophy	0	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease	HP:0040283 - Occasional	35
HP:0012157	HP:0012157	Subcortical cerebral atrophy	0	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional	516
HP:0012157	HP:0012157	Subcortical cerebral atrophy	0	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	516
HP:0012157	HP:0012157	Subcortical cerebral atrophy	0	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration		55
HP:0012157	HP:0012157	Subcortical cerebral atrophy	0	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional	352
HP:0012157	HP:0012157	Subcortical cerebral atrophy	0	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	40
HP:0012157	HP:0012157	Subcortical cerebral atrophy	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare	35
HP:0012157	HP:0012157	Subcortical cerebral atrophy	0	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent	2
HP:0012157	HP:0012157	Subcortical cerebral atrophy	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040282 - Frequent	31
HP:0012157	HP:0012157	Subcortical cerebral atrophy	0	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional	173
HP:0012157	HP:0012157	Subcortical cerebral atrophy	0	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional	78
HP:0012157	HP:0012157	Subcortical cerebral atrophy	0	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	777
HP:0012157	HP:0012157	Subcortical cerebral atrophy	0	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	155
HP:0012157	HP:0007132	Pallidal degeneration	1	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	115
HP:0012157	HP:0007132	Pallidal degeneration	1	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration	.	55

Genes (28) :ACTB ACTG1 ADGRV1 ALG3 CDH23 CIB2 COG7 EHMT1 ESPN FGFR1 GCDH HNF1B KRAS LHX1 MAN2B1 MBTPS2 MYO5A MYO7A PANK2 PCDH15 PDZD7 POGZ SHPK TCTN3 USH1C USH1G USH2A WHRN

Diseases (17) :ORPHA:2995 ORPHA:231178 ORPHA:79321 ORPHA:231169 ORPHA:79333 ORPHA:96147 ORPHA:2396 ORPHA:25 ORPHA:261265 ORPHA:309288 ORPHA:309282 ORPHA:2273 ORPHA:33445 OMIM:607236 ORPHA:468678 ORPHA:440713 ORPHA:2753

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen