Human Phenotype Ontology

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

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

Parent Node:
Aplasia/Hypoplasia of the pyramidal tract (HP:0007363)

..Starting node
..Hypoplasia of the pyramidal tract (HP:0007348)

Term ID:

7348

Name:

Hypoplasia of the pyramidal tract

Synonym:

Definition:

Comments:

Reference:

HP:0007348

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia of the pyramidal tract (HP:0100322)

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:0007348	HP:0007348	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

Genes (1) :FKTN

Diseases (1) :OMIM:253800

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