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Term ID: | 5970 |
Name: | Johnson neuroectodermal syndrome |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D000505|MESH:D000857|MESH:D003638|MESH:D007006|MESH:D020752 |
TreeNumbers: | C09.218.458.341.186/C535882 |C10.562/C535882 |C10.597.751.418.341.186/C535882 |C10.597.751.600/C535882 |C16.131.077.350.712/C535882 |C16.131.831.350.712/C535882 |C16.320.850.250.712/C535882 |C17.800.329.937.122/C535882 |C17.800.804.350.712/C535882 |C17.800.827.25 |
Synonyms: | AADH syndrome |Alopecia anosmia deafness hypogonadism syndrome |Alopecia-Anosmia-Deafness-Hypogonadism Syndrome |Johnson-Mcmillin syndrome |
Slim Mappings: | Congenital abnormality|Ear-nose-throat disease|Endocrine system disease|Genetic disease (inborn)|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms|Skin disease |
Reference: |
MedGen: C535882
MeSH: C535882
OMIM: 147770;
Genes: | Phenotypes | | Disease Causing ClinVar Variants | |
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