Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandAcidosis (D000138)
Parent Node:
expandGonadal Dysgenesis, 46,XX (D023961)
Parent Node:
expandGrowth Disorders (D006130)
Parent Node:
expandHypogonadism (D007006)
..Starting node
..expandGonadal Dysgenesis, Hypergonadotropic, XX Type, Short Stature, and Recurrent Metabolic Acidosis (C565295)

       Child Nodes:



 Sister Nodes: 
..expandAlopecia hypogonadism extrapyramidal disorder (C537053)
..expandAlopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism (C563370)
..expandBassoe syndrome (C537661)
..expandBiemond syndrome type 2 (C535439)
..expandBorjeson-Forssman-Lehmann syndrome (C536575)
..expandCantalamessa Baldini Ambrosi syndrome (C537981)
..expandCardiomyopathy hypogonadism collagenoma syndrome (C535582)
..expandCerebellar Ataxia and Hypergonadotropic Hypogonadism (C565308)
..expandCerebellar Ataxia and Hypogonadotropic Hypogonadism (C565870)
..expandChang Davidson Carlson syndrome (C538075)
..expandChorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism (C565850)
..expandChudley-Rozdilsky syndrome (C535458)
..expandDe Sanctis-Cacchione syndrome (C535992)
..expandDeafness-Hypogonadism Syndrome (C564435)
..expandEncephalopathy, Spastic Tetraparesis, and Hypogonadism (C565722)
..expandEunuchism (D005058) Child2
..expandGonadal Dysgenesis, Hypergonadotropic, XX Type, Short Stature, and Recurrent Metabolic Acidosis (C565295)
..expandHypergonadotropic Hypogonadism And Partial Alopecia (C567109)
..expandHypogonadism and Testicular Atrophy (C567108)
..expandHypogonadism with Low-Grade Mental Deficiency and Microcephaly (C565482)
..expandHypogonadism, Male, With Mental Retardation And Skeletal Anomalies (C564406)
..expandIchthyosis and male hypogonadism (C537365)
..expandIdiopathic Hypogonadotropic Hypogonadism (C562785)
..expandJohnson neuroectodermal syndrome (C535882)
..expandKallmann Syndrome (D017436) Child9
..expandKlinefelter Syndrome (D007713)
..expandLeukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism (C567313)
..expandLubinsky syndrome (C543092)
..expandMalouf syndrome (C535703)
..expandMartsolf syndrome (C536028)
..expandMEHMO syndrome (C537451)
..expandMENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT (OMIM:300354)
..expandMental retardation-hypotonic facies syndrome, x-linked, 1 (C537457)
..expandMineralocorticoid Deficiency, Isolated (C567596)
..expandMoebius axonal neuropathy hypogonadism (C535806)
..expandMOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM (OMIM:300845)
..expandMuscular dystrophy, congenital, infantile with cataract and hypogonadism (C537385)
..expandMyopathy, Cataract, Hypogonadism Syndrome (C563578)
..expandProgressive External Ophthalmoplegia With Hypogonadism (C563576)
..expandRetinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism (C564841)
..expandRichards-Rundle syndrome (C535674)
..expandRud Syndrome (C535878)
..expandScholte syndrome (C536638)
..expandSeemanova Lesny syndrome (C537536)
..expandSexual Infantilism (D050035)
..expandSlti Salem syndrome (C536673)
..expandVasquez Hurst Sotos syndrome (C536533)
..expandWarburg Sjo Fledelius syndrome (C536681)
..expandWeinstein Kliman Scully syndrome (C536688)
..expandWoodhouse Sakati syndrome (C536742)
..expandYoung Hughes syndrome (C536715)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:4762
Name:Gonadal Dysgenesis, Hypergonadotropic, XX Type, Short Stature, and Recurrent Metabolic Acidosis
Definition:
Alternative IDs:
ParentIDs:MESH:D000138|MESH:D006130|MESH:D007006|MESH:D023961
TreeNumbers:C12.706.316.064.249/C565295 |C12.706.316.309.193/C565295 |C13.351.875.253.064.249/C565295 |C13.351.875.253.309.193/C565295 |C16.131.939.316.064.249/C565295 |C16.131.939.316.309.193/C565295 |C18.452.076.176/C565295 |C19.391.119.064.249/C565295 |C19.391.119.309.19
Synonyms:
Slim Mappings:Congenital abnormality|Endocrine system disease|Metabolic disease|Pathology (process)|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C565295
MeSH: C565295
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants