Disease Browser
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Parent Node: Adrenal Hyperplasia, Congenital (D000312) | Parent Node: Hypogonadism (D007006) | ..Starting node ..Mineralocorticoid Deficiency, Isolated (C567596)
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Sister Nodes: | ..Alopecia hypogonadism extrapyramidal disorder (C537053)
| ..Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism (C563370)
| ..Bassoe syndrome (C537661)
| ..Biemond syndrome type 2 (C535439)
| ..Borjeson-Forssman-Lehmann syndrome (C536575)
| ..Cantalamessa Baldini Ambrosi syndrome (C537981)
| ..Cardiomyopathy hypogonadism collagenoma syndrome (C535582)
| ..Cerebellar Ataxia and Hypergonadotropic Hypogonadism (C565308)
| ..Cerebellar Ataxia and Hypogonadotropic Hypogonadism (C565870)
| ..Chang Davidson Carlson syndrome (C538075)
| ..Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism (C565850)
| ..Chudley-Rozdilsky syndrome (C535458)
| ..De Sanctis-Cacchione syndrome (C535992)
| ..Deafness-Hypogonadism Syndrome (C564435)
| ..Encephalopathy, Spastic Tetraparesis, and Hypogonadism (C565722)
| ..Eunuchism (D005058) 2
| ..Gonadal Dysgenesis, Hypergonadotropic, XX Type, Short Stature, and Recurrent Metabolic Acidosis (C565295)
| ..Hypergonadotropic Hypogonadism And Partial Alopecia (C567109)
| ..Hypogonadism and Testicular Atrophy (C567108)
| ..Hypogonadism with Low-Grade Mental Deficiency and Microcephaly (C565482)
| ..Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies (C564406)
| ..Ichthyosis and male hypogonadism (C537365)
| ..Idiopathic Hypogonadotropic Hypogonadism (C562785)
| ..Johnson neuroectodermal syndrome (C535882)
| ..Kallmann Syndrome (D017436) 9
| ..Klinefelter Syndrome (D007713)
| ..Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism (C567313)
| ..Lubinsky syndrome (C543092)
| ..Malouf syndrome (C535703)
| ..Martsolf syndrome (C536028)
| ..MEHMO syndrome (C537451)
| ..MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT (OMIM:300354)
| ..Mental retardation-hypotonic facies syndrome, x-linked, 1 (C537457)
| ..Mineralocorticoid Deficiency, Isolated (C567596)
| ..Moebius axonal neuropathy hypogonadism (C535806)
| ..MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM (OMIM:300845)
| ..Muscular dystrophy, congenital, infantile with cataract and hypogonadism (C537385)
| ..Myopathy, Cataract, Hypogonadism Syndrome (C563578)
| ..Progressive External Ophthalmoplegia With Hypogonadism (C563576)
| ..Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism (C564841)
| ..Richards-Rundle syndrome (C535674)
| ..Rud Syndrome (C535878)
| ..Scholte syndrome (C536638)
| ..Seemanova Lesny syndrome (C537536)
| ..Sexual Infantilism (D050035)
| ..Slti Salem syndrome (C536673)
| ..Vasquez Hurst Sotos syndrome (C536533)
| ..Warburg Sjo Fledelius syndrome (C536681)
| ..Weinstein Kliman Scully syndrome (C536688)
| ..Woodhouse Sakati syndrome (C536742)
| ..Young Hughes syndrome (C536715)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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Term ID: | 7294 |
Name: | Mineralocorticoid Deficiency, Isolated |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D000312|MESH:D007006 |
TreeNumbers: | C12.706.316.129.500/C567596 |C13.351.875.253.129.500/C567596 |C16.131.939.316.129.500/C567596 |C16.320.033/C567596 |C16.320.565.925.249/C567596 |C18.452.648.925.249/C567596 |C19.053.440/C567596 |C19.391.119.129.500/C567596 |C19.391.482/C567596 |
Synonyms: | |
Slim Mappings: | Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) |
Reference: |
MedGen: C567596
MeSH: C567596
OMIM:
Genes: | Phenotypes | | Disease Causing ClinVar Variants | |
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