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:
Atrophy/Degeneration affecting the central nervous system (HP:0007367)

Grandparent Node:
obsolete Brain very small (HP:0001322)

Parent Node:
Abnormal caudate nucleus morphology (HP:0002339)

Parent Node:
Brain atrophy (HP:0012444)

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

Term ID:

7374

Name:

Atrophy/Degeneration involving the caudate nucleus

Synonym:

Definition:

Comments:

Reference:

HP:0007374

Genes and Diseases:

Child Nodes:

........

Caudate atrophy (HP:0002340)

Sister Nodes:

Atrophy/Degeneration affecting the cerebrum (HP:0007369)

Global brain atrophy (HP:0002283)

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:0007374	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent	116
HP:0007374	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent
HP:0007374	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy		105
HP:0007374	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	0	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech		143
HP:0007374	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy		33
HP:0007374	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease		12
HP:0007374	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	0	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome		12
HP:0007374	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	0	JPH3 CL E G H	57338	14203	ORPHA:98934	Huntington disease-like 2		2
HP:0007374	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	0	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16		34
HP:0007374	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	0	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24		101
HP:0007374	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	0	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent	7
HP:0007374	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	0	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome		55
HP:0007374	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease		1
HP:0007374	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	0	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome		15
HP:0007374	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	0	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2		31
HP:0007374	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	0	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy		22
HP:0007374	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	0	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS		130
HP:0007374	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0007374	HP:0002340	Caudate atrophy	1	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040283 - Occasional	105
HP:0007374	HP:0002340	Caudate atrophy	1	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040283 - Occasional	143
HP:0007374	HP:0002340	Caudate atrophy	1	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040283 - Occasional	33
HP:0007374	HP:0002340	Caudate atrophy	1	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040283 - Occasional	12
HP:0007374	HP:0002340	Caudate atrophy	1	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome	HP:0040284 - Very rare	12
HP:0007374	HP:0002340	Caudate atrophy	1	JPH3 CL E G H	57338	14203	ORPHA:98934	Huntington disease-like 2	HP:0040283 - Occasional	2
HP:0007374	HP:0002340	Caudate atrophy	1	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16		34
HP:0007374	HP:0002340	Caudate atrophy	1	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24		101
HP:0007374	HP:0002340	Caudate atrophy	1	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0040283 - Occasional	55
HP:0007374	HP:0002340	Caudate atrophy	1	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040283 - Occasional	1
HP:0007374	HP:0002340	Caudate atrophy	1	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040283 - Occasional	15
HP:0007374	HP:0002340	Caudate atrophy	1	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2		31
HP:0007374	HP:0002340	Caudate atrophy	1	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	.	22
HP:0007374	HP:0002340	Caudate atrophy	1	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS	.	130
HP:0007374	HP:0002340	Caudate atrophy	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040282 - Frequent	130

Genes (16) :ADAR ATP6 BSCL2 FOXP2 FTL HTT JPH3 NDUFAF5 NEK1 NUP62 OPHN1 SLC2A3 TIMM8A TREM2 TYROBP VPS13A

Diseases (15) :ORPHA:225154 ORPHA:363400 ORPHA:209908 ORPHA:157846 ORPHA:399 OMIM:617435 ORPHA:98934 OMIM:618238 OMIM:617892 ORPHA:137831 ORPHA:52368 OMIM:618193 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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