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:
expandAbnormalities, Multiple (D000015)
Parent Node:
expandFacies (D019066)
Parent Node:
expandHernia, Umbilical (D006554)
Parent Node:
expandScoliosis (D012600)
..Starting node
..expandShprintzen omphalocele syndrome (C537329)

       Child Nodes:



 Sister Nodes: 
..expandAcrodysplasia scoliosis (C538180)
..expandCervical Hypertrichosis with Underlying Kyphoscoliosis (C566142)
..expandCoffin syndrome 1 (C536435)
..expandDaish Hardman Lamont syndrome (C535770)
..expandDislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation (C566408)
..expandGaze Palsy, Familial Horizontal, with Progressive Scoliosis (C564593)
..expandIida Kannari syndrome (C536284)
..expandKyphoscoliosis 1 (C565711)
..expandMacrocephaly, Alopecia, Cutis Laxa, and Scoliosis (C567770)
..expandOmphalocele exstrophy imperforate anus (C537748)
..expandParastremmatic dwarfism (C537172)
..expandPilotto syndrome (C537400)
..expandPrata Libéral Gonçalves syndrome (C538277)
..expandRhizomelic dysplasia, scoliosis, and retinitis pigmentosa (C537610)
..expandRigid spine syndrome (C535683)
..expandScoliosis, Arachnodactyly, And Blindness (C567309)
..expandSCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 1 (OMIM:181800)
..expandSCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 2 (OMIM:607354)
..expandSCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 3 (OMIM:608765)
..expandSCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 4 (OMIM:612238)
..expandSCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 5 (OMIM:612239)
..expandShprintzen omphalocele syndrome (C537329)
..expandSpondylocarpotarsal synostosis (C535780)
..expandTsukahara Syndrome (C566376)
..expandWaaler Aarskog syndrome (C536461)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:10213
Name:Shprintzen omphalocele syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D000015|MESH:D006554|MESH:D012600|MESH:D019066
TreeNumbers:C05.116.900.800.875/C537329 |C16.131.077/C537329 |C16.614.378/C537329 |C23.300.707.374.937.500/C537329 |C23.550.291.812/C537329
Synonyms:Laryngeal and pharyngeal hypoplasia with omphalocele |Pharynx and larynx hypoplasia with omphalocele |Shprintzen-Goldberg omphalocele syndrome
Slim Mappings:Congenital abnormality|Infant-newborn disease|Musculoskeletal disease|Pathology (anatomical condition)|Pathology (process)
Reference: MedGen: C537329
MeSH: C537329
OMIM: 182210;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001999Abnormal facial shape
3 HP:0000153Abnormality of the mouth
4 HP:0002023Anal atresiaHP:0040283
5 HP:0005956Anteroposteriorly shortened larynx
6 HP:0004325Decreased body weight
7 HP:0000286Epicanthus
8 HP:0000454Flared nostrils
9 HP:0001290Generalized hypotonia
10 HP:0001620High pitched voice
11 HP:0009555Hypoplasia of the pharynx
12 HP:0001252Hypotonia
13 HP:0002808Kyphosis
14 HP:0008749Laryngeal hypoplasia
15 HP:0002938Lumbar hyperlordosis
16 HP:0000774Narrow chestHP:0040283
17 HP:0002643Neonatal respiratory distress
18 HP:0001539Omphalocele
19 HP:0002650Scoliosis
20 HP:0002000Short columella
21 HP:0004322Short stature
22 HP:0001195Single umbilical artery
23 HP:0001328Specific learning disability
24 HP:0000233Thin vermilion border
25 HP:0000465Webbed neckHP:0040283
26 HP:0000431Wide nasal bridge
Disease Causing ClinVar Variants