| Disease Browser
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Parent Node:
 Ectodermal Dysplasia (D004476) | Parent Node:
Genetic Diseases, X-Linked (D040181) | Parent Node:
Immunologic Deficiency Syndromes (D007153) | Parent Node:
Lymphedema (D008209) | Parent Node:
Osteopetrosis (D010022) | ..Starting node
.. Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema (C564538)
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Child Nodes:
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Sister Nodes: | ..Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema (C564538)
| ..Osteopetrosis and infantile neuroaxonal dystrophy (C536055)
| ..Osteopetrosis autosomal dominant type 1 (C536056)
| ..Osteopetrosis lethal (C536057)
| ..Osteopetrosis with renal tubular acidosis (C536058)
| ..Osteopetrosis, Autosomal Recessive 1 (C564915)
| ..OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 (OMIM:259710)
| ..Osteopetrosis, Autosomal Recessive 4 (C566933)
| ..Osteopetrosis, Autosomal Recessive 5 (C566883)
| ..Osteopetrosis, Autosomal Recessive 6 (C566931)
| ..Osteopetrosis, Autosomal Recessive 7 (C567354)
| ..Osteopetrosis, mild autosomal recessive form (C536059)
| ..Roy Maroteaux Kremp syndrome (C535875)
| ..Whyte Murphy Fallon Sly syndrome (C536060)
| ..Worth syndrome (C536748)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 3608 |
| Name: | Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema |
| Definition: | |
| Alternative IDs: | OMIM:300301 |
| ParentIDs: | MESH:D004476|MESH:D007153|MESH:D008209|MESH:D010022|MESH:D040181 |
| TreeNumbers: | C05.116.099.708.702.678/C564538 |C15.604.496/C564538 |C16.131.077.350/C564538 |C16.131.831.350/C564538 |C16.320.322/C564538 |C16.320.850.250/C564538 |C17.800.804.350/C564538 |C17.800.827.250/C564538 |C20.673/C564538 |
| Synonyms: | OLEDAID |
| Slim Mappings: | Congenital abnormality|Genetic disease (inborn)|Immune system disease|Lymphatic disease|Musculoskeletal disease|Skin disease |
| Reference: |
MedGen: C564538
MeSH: C564538
OMIM: 300301;
Genes: IKBKG; | | Phenotypes | | | Disease Causing ClinVar Variants | | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | | NM_003639.4(IKBKG):c.1259A>G (p.Ter420Trp) | 8517 | IKBKG | Pathogenic | 137853321 | RCV000170521; RCV000012203; | N | MedGen:C0021171,OMIM:308300, Orphanet:ORPHA464,SNOMED CT:367520004; MedGen:C1845919,OMIM:300301,ORPHA:69088 | X | 153792675 | 153792675 | NM_003639.4:c.1259A>G | NP_003630.1:p.Ter420Trp | NC_000023.10:g.153792675A>G | OMIM Allelic Variant:300248.0002 | C1845919 300301 Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema; C0021171 308300 Incontinentia pigmenti syndrome | | |
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