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 abnormality of the pyramidal tract (HP:0002062)

Parent Node:
Aplasia/Hypoplasia involving the central nervous system (HP:0002977)

Parent Node:
Morphological abnormality of the corticospinal tract (HP:0002492)

..Starting node
..Aplasia/Hypoplasia involving the corticospinal tracts (HP:0007365)

Term ID:

7365

Name:

Aplasia/Hypoplasia involving the corticospinal tracts

Synonym:

Definition:

Comments:

Reference:

HP:0007365

Genes and Diseases:

Child Nodes:

........

Corticospinal tract hypoplasia (HP:0007016)

Sister Nodes:

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

Corticospinal tract pallor (HP:0008361)

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:0007365	HP:0007365	Aplasia/Hypoplasia involving the corticospinal tracts	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome		33
HP:0007365	HP:0007365	Aplasia/Hypoplasia involving the corticospinal tracts	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0007365	HP:0007365	Aplasia/Hypoplasia involving the corticospinal tracts	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome		119
HP:0007365	HP:0007365	Aplasia/Hypoplasia involving the corticospinal tracts	0	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius		134
HP:0007365	HP:0007365	Aplasia/Hypoplasia involving the corticospinal tracts	0	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency		37
HP:0007365	HP:0007365	Aplasia/Hypoplasia involving the corticospinal tracts	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome		150
HP:0007365	HP:0007016	Corticospinal tract hypoplasia	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent	33
HP:0007365	HP:0007016	Corticospinal tract hypoplasia	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent
HP:0007365	HP:0007016	Corticospinal tract hypoplasia	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent	119
HP:0007365	HP:0007016	Corticospinal tract hypoplasia	1	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius	.	134
HP:0007365	HP:0007016	Corticospinal tract hypoplasia	1	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency	HP:0040283 - Occasional	37
HP:0007365	HP:0007016	Corticospinal tract hypoplasia	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent	150

Genes (6) :DEAF1 FLII IQSEC2 L1CAM PDHB RAI1

Diseases (3) :ORPHA:819 OMIM:307000 ORPHA:255138

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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