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:
expandAlopecia (D000505)
Parent Node:
expandHypogonadism (D007006)
Parent Node:
expandIntellectual Disability (D008607)
Parent Node:
expandSeizures (D012640)
..Starting node
..expandAlopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism (C563370)

       Child Nodes:



 Sister Nodes: 
..expandAdams Nance syndrome (C538224)
..expandAlcohol Withdrawal Seizures (D020270)
..expandAlopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism (C563370)
..expandBaraitser Rodeck Garner syndrome (C537906)
..expandCerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..expandChromosome 15q13.3 Microdeletion Syndrome (C567439)
..expandConvulsive Disorder, Familial, with Prenatal or Early Onset (C565678)
..expandCopper deficiency, familial benign (C535468)
..expandCryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840)
..expandDysmyelination With Jaundice (C565610)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 (OMIM:613721)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 (OMIM:613722)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 (OMIM:613477)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 (OMIM:613720)
..expandHyper-Beta-Alaninemia (C562684)
..expandHyperleucine-Isoleucinemia (C562674)
..expandHyperphosphatemia, Polyuria, and Seizures (C565494)
..expandHypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..expandHypotonia, Seizures, And Precocious Puberty (C567566)
..expandInfantile convulsions and paroxysmal choreoathetosis, familial (C535522)
..expandMental retardation, keratoconus, febrile seizures, and sinoatrial block (C537452)
..expandMental retardation, X-linked, syndromic 5 (C535773)
..expandMethionine Malabsorption Syndrome (C562682)
..expandMicrocephaly seizures genital hypoplasia (C537540)
..expandMicrocephaly seizures mental retardation heart disorders (C537544)
..expandMicrocephaly sparse hair mental retardation seizures (C537545)
..expandMICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
..expandMICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
..expandMuller Barth Menger syndrome (C537370)
..expandPACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS (OMIM:600176)
..expandPartington X-linked mental retardation syndrome (C536300)
..expandPerniola Krajewska Carnevale syndrome (C536660)
..expandPhosphoglycerate Dehydrogenase Deficiency (C566618)
..expandPhosphoserine Aminotransferase Deficiency (C567032)
..expandPyridoxamine 5-Prime-Phosphate Oxidase Deficiency (C566449)
..expandQazi Markouizos syndrome (C536259)
..expandSeSAME syndrome (C557674)
..expandTranebjaerg Svejgaard syndrome (C536978)
..expandWarman Mulliken Hayward syndrome (C536684)
..expandX-linked mental retardation Gustavson type (C536759)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:456
Name:Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism
Definition:
Alternative IDs:
ParentIDs:MESH:D000505|MESH:D007006|MESH:D008607|MESH:D012640
TreeNumbers:C10.228.140.490.631/C563370 |C10.597.606.643/C563370 |C10.597.742/C563370 |C17.800.329.937.122/C563370 |C19.391.482/C563370 |C23.300.035/C563370 |C23.888.592.604.646/C563370 |C23.888.592.742/C563370 |F03.550.600/C563370
Synonyms:
Slim Mappings:Endocrine system disease|Mental disorder|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms|Skin disease
Reference: MedGen: C563370
MeSH: C563370
OMIM: 601217;

Genes:
Phenotypes
1 HP:0001939Abnormality of metabolism/homeostasis
2 HP:0001596Alopecia
3 HP:0002069Bilateral tonic-clonic seizure
4 HP:0008734Decreased testicular size
5 HP:0000815Hypergonadotropic hypogonadism
6 HP:0001256Intellectual disability, mild
7 HP:0000054Micropenis
8 HP:0002224Woolly hair
Disease Causing ClinVar Variants