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:
expandCraniofacial Abnormalities (D019465)
Parent Node:
expandDevelopmental Disabilities (D002658)
Parent Node:
expandMuscle Hypotonia (D009123)
Parent Node:
expandObesity (D009765)
..Starting node
..expandMidface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia (C563896)

       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:7270
Name:Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia
Definition:
Alternative IDs:
ParentIDs:MESH:D002658|MESH:D009123|MESH:D009765|MESH:D019465
TreeNumbers:C05.660.207/C563896 |C10.597.613.575/C563896 |C16.131.621.207/C563896 |C18.654.726.500/C563896 |C23.888.144.699.500/C563896 |C23.888.592.608.575/C563896 |F03.550.362/C563896
Synonyms:
Slim Mappings:Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Nutrition disorder|Signs and symptoms
Reference: MedGen: C563896
MeSH: C563896
OMIM: 608624;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000463Anteverted nares
3 HP:0001156Brachydactyly
4 HP:0007933Broad lateral eyebrow
5 HP:0002750Delayed skeletal maturation
6 HP:0005280Depressed nasal bridge
7 HP:0000286Epicanthus
8 HP:0002007Frontal bossing
9 HP:0001290Generalized hypotonia
10 HP:0001263Global developmental delay
11 HP:0001943Hypoglycemia
12 HP:0000369Low-set ears
13 HP:0000272Malar flattening
14 HP:0008551Microtia
15 HP:0011800Midface retrusion
16 HP:0000410Mixed hearing impairment
17 HP:0000160Narrow mouth
18 HP:0001319Neonatal hypotonia
19 HP:0001513Obesity
20 HP:0000396Overfolded helix
21 HP:0011220Prominent forehead
22 HP:0000508Ptosis
23 HP:0001328Specific learning disability
24 HP:0000179Thick lower lip vermilion
Disease Causing ClinVar Variants