Term ID: |
6888 |
Name: |
Meningoencephalocele |
Synonym: |
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Definition: |
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Comments: |
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Reference: |
HP:0006888 |
Genes and Diseases: | |
Child Nodes: |
Sister Nodes: |
..Anterior basal encephalocele (HP:0006992)
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..Anterior encephalocele (HP:0007035)
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..Basal encephalocele (HP:0011817)
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..Cranium bifidum occultum (HP:0004423)
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..Frontal encephalocele (HP:0007330)
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..Occipital encephalocele (HP:0002085)
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..Orbital encephalocele (HP:0007115)
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..Parietal encephalocele (HP:0011816)
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Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: | HPO disease - gene - phenotype less frequent non-typical associations: | HP:0006888 | HP:0006888 | Meningoencephalocele | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 157 | | | HP:0006888 | HP:0006888 | Meningoencephalocele | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 184 | | | HP:0006888 | HP:0006888 | Meningoencephalocele | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 136 | | | HP:0006888 | HP:0006888 | Meningoencephalocele | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 213 | | | HP:0006888 | HP:0006888 | Meningoencephalocele | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 221 | | |
Genes (5) :FKRP FKTN LARGE1 POMT1 POMT2
Diseases (1) :OMIM:236670 |
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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