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Pediatric Disease Annotations & Medicines



   craniofacial microsomia
  

Disease ID 787
Disease craniofacial microsomia
Definition
Mandibulofacial dysostosis with congenital eyelid dermoids.
Synonym
craniofacial microsomia (disorder)
craniofacial microsomias
disease, goldenhar
dysostoses, otomandibular
dysostosis, otomandibular
dysplasia, facioauriculovertebral
dysplasia, lateral facial
dysplasia, oculoauriculovertebral
dysplasias, facioauriculovertebral
dysplasias, lateral facial
dysplasias, oculoauriculovertebral
facial dysplasia, lateral
facial dysplasias, lateral
facio-auriculo-vertebral spectrum
facio-auriculo-vertebral spectrum (disorder)
facio-auriculo-vertebral spectrum (disorder) [ambiguous]
facioauriculovertebral dysplasia
facioauriculovertebral dysplasias
facioauriculovertebral sequence
facioauriculovertebral sequences
fav sequence
first and second branchial arch syndrome
first and second branchial arch syndrome (disorder)
first and second pharyngeal arch syndromes
first arch syndrome
first arch syndrome (disorder)
first arch syndrome, nos
goldenhar disease
goldenhar gorlin syndrome
goldenhar syndrome
goldenhar syndrome (disorder)
goldenhar syndrome [disease/finding]
goldenhar's syndrome
goldenhar-gorlin syndrome
goldenhar-gorlin syndromes
goldenhars syndrome
hemifacial microsomia
lateral facial dysplasia
lateral facial dysplasias
microsomia, craniofacial
microsomias, craniofacial
moeschler clarren syndrome
oav (oculoauriculovertebral) dysplasia
oav dysplasia
oavs
oculoauricular vertebral dysplasia
oculoauriculovertebral dysplasia
oculoauriculovertebral dysplasias
oculoauriculovertebral spectrum
oculoauriculovertebral spectrums
oculoauriculovertebral syndrome
oral mandibular auricular syndrome
oral-mandibular-auricular syndrome
oral-mandibular-auricular syndromes
otomandibular dysostoses
otomandibular dysostosis
otomandibular dysostosis (disorder)
otomandibular syndrome
syndrome goldenhar
syndrome, goldenhar
syndrome, goldenhar-gorlin
syndrome, moeschler clarren
syndrome, oculoauriculovertebral
syndrome, oral-mandibular-auricular
syndromes, goldenhar-gorlin
syndromes, oral-mandibular-auricular
Orphanet
OMIM
DOID
UMLS
C0265240
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:4)
C0037315  |  sleep apnea  |  1
C0037315  |  sleep apnoea  |  1
C0520679  |  obstructive sleep apnoea  |  1
C0520679  |  obstructive sleep apnea  |  1
Curated Gene(Waiting for update.)
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:72)
3861  |  KRT14  |  DISEASES
7443  |  VRK1  |  DISEASES
57167  |  SALL4  |  DISEASES
1723  |  DHODH  |  DISEASES
3199  |  HOXA2  |  DISEASES
1592  |  CYP26A1  |  DISEASES
1337  |  COX6A1  |  DISEASES
4488  |  MSX2  |  DISEASES
6299  |  SALL1  |  DISEASES
3852  |  KRT5  |  DISEASES
5914  |  RARA  |  DISEASES
182  |  JAG1  |  DISEASES
79572  |  ATP13A3  |  DISEASES
1208  |  CLPS  |  DISEASES
23314  |  SATB2  |  DISEASES
2184  |  FAH  |  DISEASES
3340  |  NDST1  |  DISEASES
27443  |  CECR2  |  DISEASES
6598  |  SMARCB1  |  DISEASES
10923  |  SUB1  |  DISEASES
775  |  CACNA1C  |  DISEASES
2588  |  GALNS  |  DISEASES
4851  |  NOTCH1  |  DISEASES
170692  |  ADAMTS18  |  DISEASES
4838  |  NODAL  |  DISEASES
5304  |  PIP  |  DISEASES
9965  |  FGF19  |  DISEASES
3549  |  IHH  |  DISEASES
6469  |  SHH  |  DISEASES
9317  |  PTER  |  DISEASES
140738  |  TMEM37  |  DISEASES
171558  |  PTCRA  |  DISEASES
81029  |  WNT5B  |  DISEASES
152002  |  XXYLT1  |  DISEASES
6910  |  TBX5  |  DISEASES
147912  |  SIX5  |  DISEASES
64388  |  GREM2  |  DISEASES
2253  |  FGF8  |  DISEASES
64840  |  PORCN  |  DISEASES
4661  |  MYT1  |  DISEASES
222546  |  RFX6  |  DISEASES
5915  |  RARB  |  DISEASES
5727  |  PTCH1  |  DISEASES
9939  |  RBM8A  |  DISEASES
2138  |  EYA1  |  DISEASES
5015  |  OTX2  |  DISEASES
8481  |  OFD1  |  DISEASES
100506658  |  OCLN  |  DISEASES
1969  |  EPHA2  |  DISEASES
157680  |  VPS13B  |  DISEASES
55503  |  TRPV6  |  DISEASES
2736  |  GLI2  |  DISEASES
2882  |  GPX7  |  DISEASES
257  |  ALX3  |  DISEASES
1025  |  CDK9  |  DISEASES
8565  |  YARS  |  DISEASES
26190  |  FBXW2  |  DISEASES
2245  |  FGD1  |  DISEASES
579  |  NKX3-2  |  DISEASES
5077  |  PAX3  |  DISEASES
5916  |  RARG  |  DISEASES
2104  |  ESRRG  |  DISEASES
1123  |  CHN1  |  DISEASES
3481  |  IGF2  |  DISEASES
55636  |  CHD7  |  DISEASES
9343  |  EFTUD2  |  DISEASES
387836  |  CLEC2A  |  DISEASES
139728  |  PNCK  |  DISEASES
4700  |  NDUFA6  |  DISEASES
6949  |  TCOF1  |  DISEASES
2972  |  BRF1  |  DISEASES
79104  |  MEG8  |  DISEASES
Locus(Waiting for update.)
Disease ID 787
Disease craniofacial microsomia
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:40)
HP:0001643  |  Persistent ductus arteriosus
HP:0002089  |  Hypoplastic lungs
HP:0000384  |  Preauricular skin tag
HP:0000086  |  Ectopic kidney
HP:0009892  |  Anotia
HP:0000074  |  Ureteropelvic junction obstruction
HP:0000076  |  Vesicoureteric reflux
HP:0000568  |  Abnormally small globe of eye
HP:0001629  |  Ventricular septal defects
HP:0002085  |  Occipital encephalocele
HP:0001249  |  Mental retardation
HP:0000238  |  Nonsyndromal hydrocephalus
HP:0000581  |  Blepharophimosis
HP:0001274  |  Absent corpus callosum
HP:0004660  |  Deficiency of facial musculature
HP:0000413  |  External auditory meatal atresia
HP:0000636  |  Upper eyelid colobomas
HP:0000003  |  Multicystic kidney dysplasia
HP:0000407  |  sensorineural hearing loss
HP:0008605  |  Unilateral external ear deformity
HP:0000154  |  Large mouth
HP:0000324  |  Asymmetry of face
HP:0008551  |  Hypoplasia of the external ear
HP:0001140  |  Epibulbar dermoid
HP:0000528  |  Absence of eyeballs
HP:0000347  |  Hypoplasia of mandible
HP:0000327  |  Maxillary micrognathia
HP:0000272  |  Depressed malar region
HP:0000104  |  Renal agenesis
HP:0002308  |  Chiari malformation
HP:0009794  |  Branchial anomalies
HP:0003305  |  Block vertebrae
HP:0002937  |  Hemivertebra
HP:0000204  |  Cleft upper lip
HP:0000405  |  Conductive hearing loss
HP:0001636  |  Tetrology of fallot
HP:0000175  |  Palatoschisis
HP:0001680  |  Coarctation of aorta
HP:0008417  |  Vertebral hypoplasia
HP:0000486  |  Squint eyes
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:7)
Disease ID 787
Disease craniofacial microsomia
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Chemical(Total Drugs:0)
(Waiting for update.)
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)