Human Phenotype Ontology

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

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

Parent Node:
Aplasia/Hypoplasia involving the corticospinal tracts (HP:0007365)

..Starting node
..Corticospinal tract hypoplasia (HP:0007016)

Term ID:

7016

Name:

Corticospinal tract hypoplasia

Synonym:

Definition:

Comments:

Reference:

HP:0007016

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