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:
Abnormality of the diencephalon (HP:0010662)

Parent Node:
Abnormality of thalamus morphology (HP:0010663)

..Starting node
..Abnormal thalamic size (HP:0012693)

Term ID:

12693

Name:

Abnormal thalamic size

Synonym:

Definition:

Deviation from the normal range of size of the thalamus.

Comments:

Reference:

HP:0012693

Genes and Diseases:

Child Nodes:

........

Enlarged thalamic volume (HP:0012694)

........

Decreased thalamic volume (HP:0012695)

Sister Nodes:

Abnormal thalamic MRI signal intensity (HP:0012696)

Dysgenesis of the thalamus (HP:0025099)

Fusion of the left and right thalami (HP:0010664)

Thalamic arteriovenous malformation (HP:0031254)

Thalamic calcification (HP:0025041)

Thalamic edema (HP:0025040)

Thalamic hemorrhage (HP:0025064)

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:0012693	HP:0012693	Abnormal thalamic size	0	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0012693	HP:0012693	Abnormal thalamic size	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		157
HP:0012693	HP:0012693	Abnormal thalamic size	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		34
HP:0012693	HP:0012693	Abnormal thalamic size	0	GSX2 CL E G H	170825	24959	OMIM:618646	DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0012693	HP:0012693	Abnormal thalamic size	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		180
HP:0012693	HP:0012693	Abnormal thalamic size	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		18
HP:0012693	HP:0012693	Abnormal thalamic size	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		213
HP:0012693	HP:0012693	Abnormal thalamic size	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		221
HP:0012693	HP:0012693	Abnormal thalamic size	0	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin		255
HP:0012693	HP:0012694	Enlarged thalamic volume	1	CL E G H
HP:0012693	HP:0012695	Decreased thalamic volume	1	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0012693	HP:0012695	Decreased thalamic volume	1	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	157
HP:0012693	HP:0012695	Decreased thalamic volume	1	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	34
HP:0012693	HP:0012695	Decreased thalamic volume	1	GSX2 CL E G H	170825	24959	OMIM:618646	DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0012693	HP:0012695	Decreased thalamic volume	1	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	180
HP:0012693	HP:0012695	Decreased thalamic volume	1	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	18
HP:0012693	HP:0012695	Decreased thalamic volume	1	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	213
HP:0012693	HP:0012695	Decreased thalamic volume	1	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	221
HP:0012693	HP:0012695	Decreased thalamic volume	1	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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