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:
Abnormal neuron morphology (HP:0012757)

Parent Node:
Abnormal motor neuron morphology (HP:0002450)

..Starting node
..Paucity of anterior horn motor neurons (HP:0007277)

Term ID:

7277

Name:

Paucity of anterior horn motor neurons

Synonym:

Definition:

Comments:

Reference:

HP:0007277

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal anterior horn cell morphology (HP:0006802)

Abnormal lower motor neuron morphology (HP:0002366)

Abnormal upper motor neuron morphology (HP:0002127)

Motor neuron atrophy (HP:0007373)

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:0007277	HP:0007277	Paucity of anterior horn motor neurons	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.	45
HP:0007277	HP:0007277	Paucity of anterior horn motor neurons	0	GLE1 CL E G H	2733	4315	OMIM:253310	Lethal congenital contracture syndrome 1	.	45

Genes (1) :GLE1

Diseases (2) :OMIM:611890 OMIM:253310

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