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:
expandEpilepsy (D004827)
Parent Node:
expandHypogonadism (D007006)
Parent Node:
expandMental Retardation, X-Linked (D038901)
Parent Node:
expandMicrocephaly (D008831)
Parent Node:
expandObesity (D009765)
..Starting node
..expandMEHMO syndrome (C537451)

       Child Nodes:



 Sister Nodes: 
..expandADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2 (OMIM:606770)
..expandADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3 (OMIM:606771)
..expandAyazi syndrome (C537793)
..expandBiemond Syndrome II (C565902)
..expandBiemond syndrome type 2 (C535439)
..expandBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10 (OMIM:607514)
..expandBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 11 (OMIM:300306)
..expandBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12 (OMIM:612362)
..expandBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 13 (OMIM:612459)
..expandBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14 (OMIM:612460)
..expandBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4 (OMIM:607447)
..expandBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 7 (OMIM:608410)
..expandBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 8 (OMIM:603188)
..expandBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9 (OMIM:602025)
..expandBorjeson-Forssman-Lehmann syndrome (C536575)
..expandCamera Marugo Cohen syndrome (C537964)
..expandClark-Baraitser syndrome (C536208)
..expandCohen syndrome (C536438)
..expandColoboma-Obesity-Hypogenitalism-Mental Retardation Syndrome (C566623)
..expandFASTING INSULIN LEVEL QUANTITATIVE TRAIT LOCUS 1 (OMIM:606035)
..expandMacrosomia obesity macrocephaly ocular abnormalities (C535812)
..expandMEHMO syndrome (C537451)
..expandMidface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia (C563896)
..expandMOMES Syndrome (C564660)
..expandMORM syndrome (C536984)
..expandObesity Hypoventilation Syndrome (D010845)
..expandObesity, Abdominal (D056128)
..expandObesity, Hyperphagia, and Developmental Delay (C563938)
..expandObesity, Morbid (D009767)
..expandPediatric Obesity (D063766)
..expandPrader-Willi Syndrome (D011218) Child2
..expandProlactin Deficiency with Obesity and Enlarged Testes (C564870)
..expandProopiomelanocortin Deficiency (C565726)
..expandProprotein Convertase 1 3 Deficiency (C563423)
..expandPROPROTEIN CONVERTASE 1/3 DEFICIENCY (OMIM:600955)
..expandShort Stature-Obesity Syndrome (C564821)
..expandVasquez Hurst Sotos syndrome (C536533)
..expandWilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome (C567292)
..expandWilson-Turner X-linked mental retardation syndrome (C536708)
..expandYoung Hughes syndrome (C536715)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:6904
Name:MEHMO syndrome
Definition:
Alternative IDs:OMIM:300148
ParentIDs:MESH:D004827|MESH:D007006|MESH:D008831|MESH:D009765|MESH:D038901
TreeNumbers:C05.660.207.620/C537451 |C10.228.140.490/C537451 |C10.500.507.400.500/C537451 |C10.597.606.643.455/C537451 |C16.131.621.207.620/C537451 |C16.131.666.507.400.500/C537451 |C16.320.322.500/C537451 |C16.320.400.525/C537451 |C18.654.726.500/C537451 |C19.391.482/C53745
Synonyms:MEHMO |Mental Retardation, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity |MENTAL RETARDATION, X-LINKED, SYNDROMIC 20 |MENTAL RETARDATION, X-LINKED, SYNDROMIC 25 |MRXS20 |MRXS25 |X-linked MEHMO syndrome
Slim Mappings:Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Nutrition disorder|Signs and symptoms
Reference: MedGen: C537451
MeSH: C537451
OMIM: 300148;

Genes: MEHMO;
Phenotypes
1 HP:0001419X-linked recessive inheritance
2 HP:0003561Birth length less than 3rd percentileHP:0040284
3 HP:0001263Global developmental delayHP:0040284
4 HP:0001347HyperreflexiaHP:0040284
5 HP:0000026Male hypogonadismHP:0040284
6 HP:0000252MicrocephalyHP:0040284
7 HP:0008936Muscular hypotonia of the trunkHP:0040284
8 HP:0001513ObesityHP:0040284
9 HP:0001250SeizureHP:0040284
10 HP:0001518Small for gestational ageHP:0040284
11 HP:0001257SpasticityHP:0040284
Disease Causing ClinVar Variants