| Disease Browser
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Parent Node:
 Hearing Loss, Sensorineural (D006319) | Parent Node:
Nervous System Malformations (D009421) | Parent Node:
Ocular Motility Disorders (D015835) | ..Starting node
.. Athabaskan brainstem dysgenesis (C535397)
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Child Nodes:
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Sister Nodes: | ..Athabaskan brainstem dysgenesis (C535397)
| ..Diffuse Lewy Body Disease with Gaze Palsy (C565077)
| ..Duane Retraction Syndrome (D004370)  2
| ..Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement (C567572)
| ..Fibrosis of Extraocular Muscles, Congenital, 3B (C567739)
| ..Fibrosis of Extraocular Muscles, Congenital, 3C (C567666)
| ..Fibrosis of Extraocular Muscles, Congenital, with Synergistic Divergence (C566508)
| ..Joubert syndrome 3 (C536295)
| ..Joubert syndrome 5 (C537688)
| ..Joubert syndrome 6 (C537689)
| ..Joubert Syndrome 7 (C566916)
| ..Levator-Medial Rectus Synkinesis (C563625)
| ..Mental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
| ..Miller Fisher Syndrome (D019846)
| ..Nystagmus, Pathologic (D009759) 25
| ..Oculomotor Nerve Diseases (D015840) 4
| ..Ophthalmoplegia (D009886) 41
| ..Ophthalmoplegia, Chronic Progressive External (D017246) 7
| ..Opsoclonus-Myoclonus Syndrome (D053578) 1
| ..Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia (C566817)
| ..Setting-Sun Phenomenon, Familial Benign (C563470)
| ..Strabismus (D013285) 13
| ..Tolosa-Hunt Syndrome (D020333) 1
| ..Tukel syndrome (C536925)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 1001 |
| Name: | Athabaskan brainstem dysgenesis |
| Definition: | |
| Alternative IDs: | OMIM:601536 |
| ParentIDs: | MESH:D006319|MESH:D009421|MESH:D015835 |
| TreeNumbers: | C09.218.458.341.887/C535397 |C10.228.758/C535397 |C10.292.562/C535397 |C10.500/C535397 |C10.597.751.418.341.887/C535397 |C11.590/C535397 |C16.131.666/C535397 |C23.888.592.763.393.341.887/C535397 |
| Synonyms: | ABDS |Athabaskan Brainstem Dysgenesis Syndrome |Bosley-Salih-Alorainy Syndrome |BSAS, INCLUDED |Navajo brainstem syndrome |NAVAJO BRAINSTEM SYNDROME BOSLEY-SALIH-ALORAINY SYNDROME, INCLUDED |
| Slim Mappings: | Congenital abnormality|Ear-nose-throat disease|Eye disease|Nervous system disease|Signs and symptoms |
| Reference: |
MedGen: C535397
MeSH: C535397
OMIM: 601536;
Genes: HOXA1; | | 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_005522.4(HOXA1):c.76C>T (p.Arg26Ter) | 3198 | HOXA1 | Pathogenic | 104894018 | RCV000016029; | N | MedGen:C1832215,OMIM:601536,ORPHA:69739 | 7 | 27135456 | 27135456 | NM_005522.4:c.76C>T | NP_005513.1:p.Arg26Ter | NC_000007.13:g.27135456G>A | OMIM Allelic Variant:142955.0003 | C1832215 601536 Athabaskan brainstem dysgenesis | | |
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