Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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 cerebellum morphology (HP:0001317)

Grandparent Node:
Abnormality of coordination (HP:0011443)

Parent Node:
Ataxia (HP:0001251)

..Starting node
..Spastic ataxia (HP:0002497)

Term ID:

2497

Name:

Spastic ataxia

Synonym:

Definition:

Comments:

Reference:

HP:0002497

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cerebellar ataxia associated with quadrupedal gait (HP:0009878)

Dysdiadochokinesis (HP:0002075)

Dysmetria (HP:0001310)

Dyssynergia (HP:0010867)

Episodic ataxia (HP:0002131)

Gait ataxia (HP:0002066)

Limb ataxia (HP:0002070)

Nonprogressive cerebellar ataxia (HP:0002470)

Progressive cerebellar ataxia (HP:0002073)

Truncal ataxia (HP:0002078)

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:0002497	HP:0002497	Spastic ataxia	0	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive	.	86
HP:0002497	HP:0002497	Spastic ataxia	0	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42		32
HP:0002497	HP:0002497	Spastic ataxia	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040282 - Frequent	60
HP:0002497	HP:0002497	Spastic ataxia	0	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia		17
HP:0002497	HP:0002497	Spastic ataxia	0	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy		34
HP:0002497	HP:0002497	Spastic ataxia	0	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58	HP:0040281 - Very frequent	38
HP:0002497	HP:0002497	Spastic ataxia	0	KIF1C CL E G H	10749	6317	OMIM:611302	Spastic ataxia 2, autosomal recessive	.	38
HP:0002497	HP:0002497	Spastic ataxia	0	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy	HP:0040281 - Very frequent	25
HP:0002497	HP:0002497	Spastic ataxia	0	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive	.	25
HP:0002497	HP:0002497	Spastic ataxia	0	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type	.	50
HP:0002497	HP:0002497	Spastic ataxia	0	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive	.	19
HP:0002497	HP:0002497	Spastic ataxia	0	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10		1
HP:0002497	HP:0002497	Spastic ataxia	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type	.	309
HP:0002497	HP:0002497	Spastic ataxia	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive		171
HP:0002497	HP:0002497	Spastic ataxia	0	TANC2 CL E G H	26115	30212	OMIM:618906	INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS
HP:0002497	HP:0002497	Spastic ataxia	0	TBCE CL E G H	6905	11582	ORPHA:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome	HP:0040281 - Very frequent	52
HP:0002497	HP:0002497	Spastic ataxia	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040282 - Frequent	64
HP:0002497	HP:0002497	Spastic ataxia	0	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1	HP:0040282 - Frequent	2
HP:0002497	HP:0002497	Spastic ataxia	0	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant	.	2

Genes (16) :AFG3L2 CACNA1G DARS2 GLRX5 HTRA1 KIF1C MARS2 MMADHC MTPAP PRDM8 SACS SPG7 TANC2 TBCE TUBB3 VAMP1

Diseases (19) :OMIM:614487 OMIM:616795 ORPHA:137898 OMIM:616859 ORPHA:199354 ORPHA:397946 OMIM:611302 ORPHA:314603 OMIM:611390 OMIM:277410 OMIM:613672 OMIM:616640 OMIM:270550 OMIM:607259 OMIM:618906 ORPHA:496756 ORPHA:300570 ORPHA:251282 OMIM:108600

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen