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 caudate nucleus morphology (HP:0002339)

Grandparent Node:
Brain atrophy (HP:0012444)

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

..Starting node
..Caudate atrophy (HP:0002340)

Term ID:

2340

Name:

Caudate atrophy

Synonym:

Caudate degeneration

Definition:

Comments:

Reference:

HP:0002340

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

Genes (13) :BSCL2 FOXP2 FTL HTT JPH3 NDUFAF5 NEK1 OPHN1 SLC2A3 TIMM8A TREM2 TYROBP VPS13A

Diseases (14) :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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