Term ID: |
4336 |
Name: |
Myelin outfoldings |
Synonym: |
Excessive focal folding of myelin sheaths; Irregular myelin foldings |
Definition: |
The presence of excessive redundant myelin in the peripheral nerve sheath. |
Comments: |
|
Reference: |
HP:0004336 |
Genes and Diseases: | | Child Nodes: | Sister Nodes: | ..Increased peripheral myelin thickness (HP:0030174)
| ..Irregular myelin loops (HP:0007208)
| ..Myelin tomacula (HP:0030175)
| Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: | HPO disease - gene - phenotype less frequent non-typical associations: | HP:0004336 | HP:0004336 | Myelin outfoldings | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:118200 | Charcot-Marie-Tooth disease, demyelinating, type 1B | . | | | 134 | | | HP:0004336 | HP:0004336 | Myelin outfoldings | 0 | MTMR2 CL E G H | 8898 | 7450 | OMIM:601382 | Charcot-Marie-Tooth disease, type 4B1 | | | | 88 | | | HP:0004336 | HP:0004336 | Myelin outfoldings | 0 | NEFL CL E G H | 4747 | 7739 | OMIM:607734 | Charcot-Marie-Tooth disease, demyelinating, type 1F | . | | | 118 | | | HP:0004336 | HP:0004336 | Myelin outfoldings | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:118220 | Charcot-Marie-Tooth disease, demyelinating, type 1A | . | | | 79 | | | HP:0004336 | HP:0004336 | Myelin outfoldings | 0 | SBF1 CL E G H | 6305 | 10542 | OMIM:615284 | Charcot-Marie-Tooth disease, type 4B3 | | | | 16 | | | HP:0004336 | HP:0004336 | Myelin outfoldings | 0 | SBF2 CL E G H | 81846 | 2135 | ORPHA:99956 | Charcot-Marie-Tooth disease type 4B2 | | | | 180 | | | HP:0004336 | HP:0004336 | Myelin outfoldings | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | . | | | 61 | | |
Genes (7) :MPZ MTMR2 NEFL PMP22 SBF1 SBF2 SOX10
Diseases (7) :OMIM:118200 OMIM:601382 OMIM:607734 OMIM:118220 OMIM:615284 ORPHA:99956 OMIM:609136 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
|
|