Human Phenotype Ontology

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:0010663	HP:0010663	Abnormality of thalamus morphology	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type		111
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	COASY CL E G H	80347	29932	ORPHA:397725	COASY protein-associated neurodegeneration	HP:0040281 - Very frequent	16
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3		82
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia		115
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	DCC CL E G H	1630	2701	OMIM:617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2		36
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		157
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy		33
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I		188
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		34
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	GSX2 CL E G H	170825	24959	OMIM:618646	DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23		30
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form		80
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect		17
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	MYORG CL E G H	57462	19918	OMIM:618317	Basal ganglia calcification, idiopathic, 7, autosomal recessive
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly		96
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	31
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	65
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040283 - Occasional
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome		464
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		180
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		18
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		213
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		221
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy	HP:0040282 - Frequent	57
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	40
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	SCP2 CL E G H	6342	10606	OMIM:613724	Leukoencephalopathy with dystonia and motor neuropathy	.	4
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040283 - Occasional	43
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin		255
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	73
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2		31
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	TUBA1A CL E G H	7846	20766	ORPHA:467166	Tubulinopathy-associated dysgyria		106
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	TUBB2B CL E G H	347733	30829	ORPHA:467166	Tubulinopathy-associated dysgyria		39
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional	64
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	TUBB3 CL E G H	10381	20772	ORPHA:467166	Tubulinopathy-associated dysgyria		64
HP:0010663	HP:0010663	Abnormality of thalamus morphology	0	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome		113
HP:0010663	HP:0025064	Thalamic hemorrhage	1	CL E G H
HP:0010663	HP:0031254	Thalamic arteriovenous malformation	1	CL E G H
HP:0010663	HP:0012696	Abnormal thalamic MRI signal intensity	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0010663	HP:0012696	Abnormal thalamic MRI signal intensity	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0010663	HP:0012696	Abnormal thalamic MRI signal intensity	1	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type		111
HP:0010663	HP:0012696	Abnormal thalamic MRI signal intensity	1	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3		82
HP:0010663	HP:0012696	Abnormal thalamic MRI signal intensity	1	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040283 - Occasional	115
HP:0010663	HP:0010664	Fusion of the left and right thalami	1	DCC CL E G H	1630	2701	OMIM:617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2		36
HP:0010663	HP:0010664	Fusion of the left and right thalami	1	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0010663	HP:0012693	Abnormal thalamic size	1	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0010663	HP:0012693	Abnormal thalamic size	1	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		157
HP:0010663	HP:0012696	Abnormal thalamic MRI signal intensity	1	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040282 - Frequent	33
HP:0010663	HP:0012696	Abnormal thalamic MRI signal intensity	1	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I		188
HP:0010663	HP:0012693	Abnormal thalamic size	1	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		34
HP:0010663	HP:0012693	Abnormal thalamic size	1	GSX2 CL E G H	170825	24959	OMIM:618646	DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0010663	HP:0012696	Abnormal thalamic MRI signal intensity	1	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23	HP:0040283 - Occasional	30
HP:0010663	HP:0012696	Abnormal thalamic MRI signal intensity	1	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form		80
HP:0010663	HP:0025041	Thalamic calcification	1	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0010663	HP:0012696	Abnormal thalamic MRI signal intensity	1	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent	17
HP:0010663	HP:0012696	Abnormal thalamic MRI signal intensity	1	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040283 - Occasional
HP:0010663	HP:0025041	Thalamic calcification	1	MYORG CL E G H	57462	19918	OMIM:618317	Basal ganglia calcification, idiopathic, 7, autosomal recessive
HP:0010663	HP:0025099	Dysgenesis of the thalamus	1	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040282 - Frequent	96
HP:0010663	HP:0025040	Thalamic edema	1	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040282 - Frequent	96
HP:0010663	HP:0012696	Abnormal thalamic MRI signal intensity	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0010663	HP:0012696	Abnormal thalamic MRI signal intensity	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0010663	HP:0012696	Abnormal thalamic MRI signal intensity	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0010663	HP:0012696	Abnormal thalamic MRI signal intensity	1	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent	464
HP:0010663	HP:0012693	Abnormal thalamic size	1	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		180
HP:0010663	HP:0012693	Abnormal thalamic size	1	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		18
HP:0010663	HP:0012693	Abnormal thalamic size	1	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		213
HP:0010663	HP:0012693	Abnormal thalamic size	1	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		221
HP:0010663	HP:0012696	Abnormal thalamic MRI signal intensity	1	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0010663	HP:0010664	Fusion of the left and right thalami	1	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0010663	HP:0012693	Abnormal thalamic size	1	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin		255
HP:0010663	HP:0012696	Abnormal thalamic MRI signal intensity	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0010663	HP:0012696	Abnormal thalamic MRI signal intensity	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0010663	HP:0012696	Abnormal thalamic MRI signal intensity	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0010663	HP:0012696	Abnormal thalamic MRI signal intensity	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0010663	HP:0012696	Abnormal thalamic MRI signal intensity	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0010663	HP:0012696	Abnormal thalamic MRI signal intensity	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0010663	HP:0012696	Abnormal thalamic MRI signal intensity	1	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2		31
HP:0010663	HP:0012696	Abnormal thalamic MRI signal intensity	1	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent	113
HP:0010663	HP:0012694	Enlarged thalamic volume	2	CL E G H
HP:0010663	HP:0012691	Focal T2 hypointense thalamic lesion	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040282 - Frequent	54
HP:0010663	HP:0012691	Focal T2 hypointense thalamic lesion	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040282 - Frequent	184
HP:0010663	HP:0012690	T2 hypointense thalamus	2	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040283 - Occasional	111
HP:0010663	HP:0012692	Focal T2 hyperintense thalamic lesion	2	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3		82
HP:0010663	HP:0012695	Decreased thalamic volume	2	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0010663	HP:0012695	Decreased thalamic volume	2	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	157
HP:0010663	HP:0012690	T2 hypointense thalamus	2	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040282 - Frequent	33
HP:0010663	HP:0012695	Decreased thalamic volume	2	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	34
HP:0010663	HP:0012695	Decreased thalamic volume	2	GSX2 CL E G H	170825	24959	OMIM:618646	DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0010663	HP:0012691	Focal T2 hypointense thalamic lesion	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040282 - Frequent	220
HP:0010663	HP:0012691	Focal T2 hypointense thalamic lesion	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040282 - Frequent	9
HP:0010663	HP:0012691	Focal T2 hypointense thalamic lesion	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040282 - Frequent	162
HP:0010663	HP:0012695	Decreased thalamic volume	2	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	180
HP:0010663	HP:0012695	Decreased thalamic volume	2	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	18
HP:0010663	HP:0012695	Decreased thalamic volume	2	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	213
HP:0010663	HP:0012695	Decreased thalamic volume	2	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	221
HP:0010663	HP:0012692	Focal T2 hyperintense thalamic lesion	2	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0010663	HP:0012695	Decreased thalamic volume	2	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040283 - Occasional	255
HP:0010663	HP:0012691	Focal T2 hypointense thalamic lesion	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040282 - Frequent	87
HP:0010663	HP:0012691	Focal T2 hypointense thalamic lesion	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040282 - Frequent	47
HP:0010663	HP:0012691	Focal T2 hypointense thalamic lesion	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040282 - Frequent	22
HP:0010663	HP:0012691	Focal T2 hypointense thalamic lesion	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040282 - Frequent	124
HP:0010663	HP:0012691	Focal T2 hypointense thalamic lesion	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040282 - Frequent	238
HP:0010663	HP:0012691	Focal T2 hypointense thalamic lesion	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040282 - Frequent
HP:0010663	HP:0012690	T2 hypointense thalamus	2	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2		31