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:
Morphological central nervous system abnormality (HP:0002011)

Parent Node:
Abnormal brainstem morphology (HP:0002363)

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

..Starting node
..Atrophy/Degeneration affecting the brainstem (HP:0007366)

Term ID:

7366

Name:

Atrophy/Degeneration affecting the brainstem

Synonym:

Brainstem atrophy

Definition:

Comments:

Reference:

HP:0007366

Genes and Diseases:

Child Nodes:

Sister Nodes:

Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)

Atrophy/Degeneration involving the spinal cord (HP:0007344)

Brain atrophy (HP:0012444)

Central nervous system degeneration (HP:0007009)

Increased cerebral lipofuscin (HP:0011813)

Motor neuron atrophy (HP:0007373)

Neurodegeneration (HP:0002180)

Neuronal loss in central nervous system (HP:0002529)

Senile plaques (HP:0100256)

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:0007366	HP:0007366	Atrophy/Degeneration affecting the brainstem	0	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99		150
HP:0007366	HP:0007366	Atrophy/Degeneration affecting the brainstem	0	ATP6V0A1 CL E G H	535	865	OMIM:619971			1
HP:0007366	HP:0007366	Atrophy/Degeneration affecting the brainstem	0	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040282 - Frequent	19
HP:0007366	HP:0007366	Atrophy/Degeneration affecting the brainstem	0	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040283 - Occasional	32
HP:0007366	HP:0007366	Atrophy/Degeneration affecting the brainstem	0	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8		1
HP:0007366	HP:0007366	Atrophy/Degeneration affecting the brainstem	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional	79
HP:0007366	HP:0007366	Atrophy/Degeneration affecting the brainstem	0	COG5 CL E G H	10466	14857	OMIM:613612	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I		79
HP:0007366	HP:0007366	Atrophy/Degeneration affecting the brainstem	0	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG	HP:0040283 - Occasional	39
HP:0007366	HP:0007366	Atrophy/Degeneration affecting the brainstem	0	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18	.
HP:0007366	HP:0007366	Atrophy/Degeneration affecting the brainstem	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040284 - Very rare	25
HP:0007366	HP:0007366	Atrophy/Degeneration affecting the brainstem	0	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	.	3
HP:0007366	HP:0007366	Atrophy/Degeneration affecting the brainstem	0	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	HP:0040282 - Frequent	3
HP:0007366	HP:0007366	Atrophy/Degeneration affecting the brainstem	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare	94
HP:0007366	HP:0007366	Atrophy/Degeneration affecting the brainstem	0	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	HP:0040283 - Occasional	145
HP:0007366	HP:0007366	Atrophy/Degeneration affecting the brainstem	0	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency		33
HP:0007366	HP:0007366	Atrophy/Degeneration affecting the brainstem	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040282 - Frequent	76
HP:0007366	HP:0007366	Atrophy/Degeneration affecting the brainstem	0	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	.	76
HP:0007366	HP:0007366	Atrophy/Degeneration affecting the brainstem	0	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14	.	36
HP:0007366	HP:0007366	Atrophy/Degeneration affecting the brainstem	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional	43
HP:0007366	HP:0007366	Atrophy/Degeneration affecting the brainstem	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040282 - Frequent	276
HP:0007366	HP:0007366	Atrophy/Degeneration affecting the brainstem	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040282 - Frequent	44
HP:0007366	HP:0007366	Atrophy/Degeneration affecting the brainstem	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare	214
HP:0007366	HP:0007366	Atrophy/Degeneration affecting the brainstem	0	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0007366	HP:0007366	Atrophy/Degeneration affecting the brainstem	0	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6	.	93
HP:0007366	HP:0007366	Atrophy/Degeneration affecting the brainstem	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040283 - Occasional	27
HP:0007366	HP:0007366	Atrophy/Degeneration affecting the brainstem	0	SPTAN1 CL E G H	6709	11273	OMIM:613477	Epileptic encephalopathy, early infantile, 5	.	416
HP:0007366	HP:0007366	Atrophy/Degeneration affecting the brainstem	0	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040284 - Very rare	1129
HP:0007366	HP:0007366	Atrophy/Degeneration affecting the brainstem	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0007366	HP:0007366	Atrophy/Degeneration affecting the brainstem	0	TBP CL E G H	6908	11588	ORPHA:98759	Spinocerebellar ataxia type 17	HP:0040282 - Frequent	7
HP:0007366	HP:0007366	Atrophy/Degeneration affecting the brainstem	0	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy	.
HP:0007366	HP:0007366	Atrophy/Degeneration affecting the brainstem	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0007366	HP:0007366	Atrophy/Degeneration affecting the brainstem	0	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	.	113
HP:0007366	HP:0007366	Atrophy/Degeneration affecting the brainstem	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040282 - Frequent	1

Genes (30) :ATP1A3 ATP6V0A1 ATXN1 CACNA1G CERS1 COG5 COG8 DEGS1 DNAJC19 DNAJC3 DNM1L DNMT1 ECHS1 FA2H FARS2 GFM2 KIF1A LMNB1 OPA1 PRDX3 RARS2 SLC35A2 SPTAN1 SYNE1 TBCD TBP TRAPPC6B TRRAP TWNK ZNHIT3

Diseases (31) :OMIM:619606 OMIM:619971 ORPHA:98755 ORPHA:458803 OMIM:616230 ORPHA:263487 OMIM:613612 ORPHA:95428 OMIM:618404 ORPHA:66634 OMIM:616192 ORPHA:445062 ORPHA:98673 ORPHA:314404 OMIM:616277 ORPHA:171629 OMIM:612319 OMIM:614946 ORPHA:565624 ORPHA:2836 ORPHA:99027 OMIM:619862 OMIM:611523 ORPHA:356961 OMIM:613477 ORPHA:88644 OMIM:617193 ORPHA:98759 OMIM:617862 OMIM:618454 OMIM:271245

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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