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:
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Coloboma (D003103)
Parent Node:
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Intellectual Disability (D008607)
Parent Node:
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Obesity (D009765)
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Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome (C566623)

       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:2490
Name:Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D003103|MESH:D008607|MESH:D009765
TreeNumbers:C10.597.606.643/C566623 |C11.250.110/C566623 |C16.131.384.282/C566623 |C18.654.726.500/C566623 |C23.888.144.699.500/C566623 |C23.888.592.604.646/C566623 |F03.550.600/C566623
Synonyms:
Slim Mappings:Congenital abnormality|Eye disease|Mental disorder|Nervous system disease|Nutrition disorder|Signs and symptoms
Reference: MedGen: C566623
MeSH: C566623
OMIM: 601794;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000518Cataract
3 HP:0000028Cryptorchidism
4 HP:0000771Gynecomastia
5 HP:0000238Hydrocephalus
6 HP:0000135Hypogonadism
7 HP:0006889Intellectual disability, borderline
8 HP:0000568Microphthalmia
9 HP:0001513Obesity
10 HP:0000480Retinal coloboma
11 HP:0000510Rod-cone dystrophy
Disease Causing ClinVar Variants