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:
Abnormal basal ganglia morphology (HP:0002134)

Parent Node:
Abnormal corpus striatum morphology (HP:0010994)

..Starting node
..Abnormal caudate nucleus morphology (HP:0002339)

Term ID:

2339

Name:

Abnormal caudate nucleus morphology

Synonym:

Abnormality of the caudate nucleus

Definition:

Any structural abnormality of the caudate nucleus.

Comments:

Reference:

HP:0002339

Genes and Diseases:

Child Nodes:

........

Atrophy/Degeneration involving the caudate nucleus (HP:0007374)

................... HP:0002340 Caudate atrophy

........

Increased caudate lactate level (HP:0012644)

Sister Nodes:

Degeneration of the striatum (HP:0040140)

Striatal T2 hyperintensity (HP:0031206)

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:0002339	HP:0002339	Abnormal caudate nucleus morphology	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis		116
HP:0002339	HP:0002339	Abnormal caudate nucleus morphology	0	ATP13A2 CL E G H	23400	30213	ORPHA:314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis	HP:0040283 - Occasional	100
HP:0002339	HP:0002339	Abnormal caudate nucleus morphology	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0002339	HP:0002339	Abnormal caudate nucleus morphology	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy		105
HP:0002339	HP:0002339	Abnormal caudate nucleus morphology	0	COASY CL E G H	80347	29932	ORPHA:397725	COASY protein-associated neurodegeneration	HP:0040281 - Very frequent	16
HP:0002339	HP:0002339	Abnormal caudate nucleus morphology	0	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation	HP:0040283 - Occasional	145
HP:0002339	HP:0002339	Abnormal caudate nucleus morphology	0	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040283 - Occasional	143
HP:0002339	HP:0002339	Abnormal caudate nucleus morphology	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040282 - Frequent	33
HP:0002339	HP:0002339	Abnormal caudate nucleus morphology	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	115
HP:0002339	HP:0002339	Abnormal caudate nucleus morphology	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease		12
HP:0002339	HP:0002339	Abnormal caudate nucleus morphology	0	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome		12
HP:0002339	HP:0002339	Abnormal caudate nucleus morphology	0	JPH3 CL E G H	57338	14203	ORPHA:98934	Huntington disease-like 2		2
HP:0002339	HP:0002339	Abnormal caudate nucleus morphology	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	31
HP:0002339	HP:0002339	Abnormal caudate nucleus morphology	0	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16		34
HP:0002339	HP:0002339	Abnormal caudate nucleus morphology	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional
HP:0002339	HP:0002339	Abnormal caudate nucleus morphology	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	65
HP:0002339	HP:0002339	Abnormal caudate nucleus morphology	0	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24		101
HP:0002339	HP:0002339	Abnormal caudate nucleus morphology	0	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis		7
HP:0002339	HP:0002339	Abnormal caudate nucleus morphology	0	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome		55
HP:0002339	HP:0002339	Abnormal caudate nucleus morphology	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	40
HP:0002339	HP:0002339	Abnormal caudate nucleus morphology	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease		1
HP:0002339	HP:0002339	Abnormal caudate nucleus morphology	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	73
HP:0002339	HP:0002339	Abnormal caudate nucleus morphology	0	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome		15
HP:0002339	HP:0002339	Abnormal caudate nucleus morphology	0	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2		31
HP:0002339	HP:0002339	Abnormal caudate nucleus morphology	0	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation	HP:0040283 - Occasional	39
HP:0002339	HP:0002339	Abnormal caudate nucleus morphology	0	TUBB3 CL E G H	10381	20772	OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1		64
HP:0002339	HP:0002339	Abnormal caudate nucleus morphology	0	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy		22
HP:0002339	HP:0002339	Abnormal caudate nucleus morphology	0	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS		130
HP:0002339	HP:0002339	Abnormal caudate nucleus morphology	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0002339	HP:0012644	Increased caudate lactate level	1	CL E G H
HP:0002339	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	1	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent	116
HP:0002339	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	1	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent
HP:0002339	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	1	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy		105
HP:0002339	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	1	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech		143
HP:0002339	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	1	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy		33
HP:0002339	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	1	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease		12
HP:0002339	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	1	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome		12
HP:0002339	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	1	JPH3 CL E G H	57338	14203	ORPHA:98934	Huntington disease-like 2		2
HP:0002339	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	1	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16		34
HP:0002339	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	1	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24		101
HP:0002339	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	1	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent	7
HP:0002339	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	1	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome		55
HP:0002339	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	1	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease		1
HP:0002339	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	1	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome		15
HP:0002339	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	1	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2		31
HP:0002339	HP:0034180	Fusion of the caudate and putamen	1	TUBB3 CL E G H	10381	20772	OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1		64
HP:0002339	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	1	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy		22
HP:0002339	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	1	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS		130
HP:0002339	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0002339	HP:0002340	Caudate atrophy	2	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040283 - Occasional	105
HP:0002339	HP:0002340	Caudate atrophy	2	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040283 - Occasional	143
HP:0002339	HP:0002340	Caudate atrophy	2	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040283 - Occasional	33
HP:0002339	HP:0002340	Caudate atrophy	2	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040283 - Occasional	12
HP:0002339	HP:0002340	Caudate atrophy	2	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome	HP:0040284 - Very rare	12
HP:0002339	HP:0002340	Caudate atrophy	2	JPH3 CL E G H	57338	14203	ORPHA:98934	Huntington disease-like 2	HP:0040283 - Occasional	2
HP:0002339	HP:0002340	Caudate atrophy	2	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16		34
HP:0002339	HP:0002340	Caudate atrophy	2	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24		101
HP:0002339	HP:0002340	Caudate atrophy	2	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0040283 - Occasional	55
HP:0002339	HP:0002340	Caudate atrophy	2	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040283 - Occasional	1
HP:0002339	HP:0002340	Caudate atrophy	2	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040283 - Occasional	15
HP:0002339	HP:0002340	Caudate atrophy	2	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2		31
HP:0002339	HP:0002340	Caudate atrophy	2	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	.	22
HP:0002339	HP:0002340	Caudate atrophy	2	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS	.	130
HP:0002339	HP:0002340	Caudate atrophy	2	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040282 - Frequent	130

Genes (27) :ADAR ATP13A2 ATP6 BSCL2 COASY DCX FOXP2 FTL GCDH HTT JPH3 NDUFAF3 NDUFAF5 NDUFB8 NDUFS2 NEK1 NUP62 OPHN1 SCO2 SLC2A3 SURF1 TIMM8A TREM2 TUBB2B TUBB3 TYROBP VPS13A

Diseases (22) :ORPHA:225154 ORPHA:314632 ORPHA:363400 ORPHA:397725 ORPHA:2148 ORPHA:209908 ORPHA:157846 ORPHA:25 ORPHA:399 OMIM:617435 ORPHA:98934 ORPHA:70474 OMIM:618238 OMIM:617892 ORPHA:137831 ORPHA:52368 OMIM:618193 ORPHA:300573 OMIM:614039 OMIM:221770 OMIM:200150 ORPHA:2388

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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