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:
Abnormality of the nervous system (HP:0000707)

Parent Node:
Abnormality of the peripheral nervous system (HP:0410008)

..Starting node
..Abnormality of the somatic nervous system (HP:0410009)

Term ID:

410009

Name:

Abnormality of the somatic nervous system

Synonym:

Definition:

Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements.

Comments:

Reference:

HP:0410009

Genes and Diseases:

Child Nodes:

........

Abnormality of somatic nerve plexus (HP:0410010)

................... HP:0045052 Abnormality of the brachial nerve plexus
................... HP:0045053 Abnormality of the lumbosacral nerve plexus
................... HP:3000035 Abnormality of cervical plexus

Sister Nodes:

Abnormality of the autonomic nervous system (HP:0002270)

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:0410009	HP:0410009	Abnormality of the somatic nervous system	0	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2		600
HP:0410009	HP:0410009	Abnormality of the somatic nervous system	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency		105
HP:0410009	HP:0410009	Abnormality of the somatic nervous system	0	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic
HP:0410009	HP:0410010	Abnormality of somatic nerve plexus	1	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2		600
HP:0410009	HP:0410010	Abnormality of somatic nerve plexus	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency		105
HP:0410009	HP:0410010	Abnormality of somatic nerve plexus	1	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic
HP:0410009	HP:3000035	Abnormality of cervical plexus	2	CL E G H
HP:0410009	HP:0045053	Abnormality of the lumbosacral nerve plexus	2	CL E G H
HP:0410009	HP:0045052	Abnormality of the brachial nerve plexus	2	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2		600
HP:0410009	HP:0045052	Abnormality of the brachial nerve plexus	2	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040284 - Very rare	105
HP:0410009	HP:0045052	Abnormality of the brachial nerve plexus	2	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic
HP:0410009	HP:0045054	Brachial plexus neuropathy	3	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2	HP:0040284 - Very rare	600
HP:0410009	HP:0045054	Brachial plexus neuropathy	3	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic

Genes (3) :DYSF PLOD1 SEPTIN9

Diseases (3) :ORPHA:268 ORPHA:1900 OMIM:162100

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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