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 peripheral myelination (HP:0003130)

Parent Node:
Decreased number of peripheral myelinated nerve fibers (HP:0003380)

..Starting node
..Decreased number of small peripheral myelinated nerve fibers (HP:0007249)

Term ID:

7249

Name:

Decreased number of small peripheral myelinated nerve fibers

Synonym:

Decreased number of small peripheral myelinated nerve fibres

Definition:

Comments:

Reference:

HP:0007249

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased number of large peripheral myelinated nerve fibers (HP:0003387)

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:0007249	HP:0007249	Decreased number of small peripheral myelinated nerve fibers	0	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness		108
HP:0007249	HP:0007249	Decreased number of small peripheral myelinated nerve fibers	0	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0007249	HP:0007249	Decreased number of small peripheral myelinated nerve fibers	0	NGF CL E G H	4803	7808	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5	HP:0040282 - Frequent	20
HP:0007249	HP:0007249	Decreased number of small peripheral myelinated nerve fibers	0	NTRK1 CL E G H	4914	8031	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5	HP:0040282 - Frequent	97
HP:0007249	HP:0007249	Decreased number of small peripheral myelinated nerve fibers	0	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.	97

Genes (4) :GDAP1 LMNA NGF NTRK1

Diseases (4) :ORPHA:101097 ORPHA:98856 ORPHA:64752 OMIM:256800

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