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:
Abnormality of thalamus morphology (HP:0010663)

Parent Node:
Abnormal thalamic size (HP:0012693)

..Starting node
..Decreased thalamic volume (HP:0012695)

Term ID:

12695

Name:

Decreased thalamic volume

Synonym:

Definition:

A reduction in the quantity of space occupied by the thalamus.

Comments:

Reference:

HP:0012695

Genes and Diseases:

Child Nodes:

Sister Nodes:

Enlarged thalamic volume (HP:0012694)

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:0012695	HP:0012695	Decreased thalamic volume	0	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0012695	HP:0012695	Decreased thalamic volume	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	157
HP:0012695	HP:0012695	Decreased thalamic volume	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	34
HP:0012695	HP:0012695	Decreased thalamic volume	0	GSX2 CL E G H	170825	24959	OMIM:618646	DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0012695	HP:0012695	Decreased thalamic volume	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	180
HP:0012695	HP:0012695	Decreased thalamic volume	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	18
HP:0012695	HP:0012695	Decreased thalamic volume	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	213
HP:0012695	HP:0012695	Decreased thalamic volume	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	221
HP:0012695	HP:0012695	Decreased thalamic volume	0	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040283 - Occasional	255

Genes (9) :EXOC7 FKRP GMPPB GSX2 POMGNT1 POMK POMT1 POMT2 SLC2A1

Diseases (4) :OMIM:619072 ORPHA:370959 OMIM:618646 ORPHA:168577

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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