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:
Morphological central nervous system abnormality (HP:0002011)

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

Parent Node:
Morphological abnormality of the pyramidal tract (HP:0002062)

..Starting node
..Aplasia/Hypoplasia of the pyramidal tract (HP:0007363)

Term ID:

7363

Name:

Aplasia/Hypoplasia of the pyramidal tract

Synonym:

Definition:

Comments:

Reference:

HP:0007363

Genes and Diseases:

Child Nodes:

........

Hypoplasia of the pyramidal tract (HP:0007348)

........

Aplasia of the pyramidal tract (HP:0100322)

Sister Nodes:

Morphological abnormality of the corticospinal tract (HP:0002492)

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:0007363	HP:0007363	Aplasia/Hypoplasia of the pyramidal tract	0	ATP1A2 CL E G H	477	800	OMIM:619602	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD		239
HP:0007363	HP:0007363	Aplasia/Hypoplasia of the pyramidal tract	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4		184
HP:0007363	HP:0100322	Aplasia of the pyramidal tract	1	CL E G H
HP:0007363	HP:0007348	Hypoplasia of the pyramidal tract	1	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.	184

Genes (2) :ATP1A2 FKTN

Diseases (2) :OMIM:619602 OMIM:253800

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