ODCs

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1 OMIM reference -
1 associated gene
13 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Osteoglophonic dwarfism

1 OMIM reference -
1 associated gene
20 signs/symptoms

Cherubism

Osteoglophonic dwarfism

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SH3BP2	(0.55)	FGFR1

Citations in the biomedical literature:

Cherubism		Osteoglophonic dwarfism
	Synonym(s): - CRBM		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare odontologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Diseases of the digestive system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D002636		External references: 1 OMIM reference - 1 MeSH reference: C536050


COMMON SIGNS	- Anodontia / oligodontia / hypodontia - Autosomal dominant inheritance

Cherubism		Osteoglophonic dwarfism
	Very frequent - Bone / osseous neoplasm / tumor / carcinoma / cancer - Enlargment of jaw / large jaw - High cheek bones Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Tooth shape anomaly Occasional - Abnormal cry / voice / phonation disorder / nasal speech - Apnea / sleep apnea - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Proptosis / exophthalmos - Visual loss / blindness / amblyopia		Very frequent - Abnormal vertebral size / shape - Craniostenosis / craniosynostosis / sutural synostosis - Hypertelorism - Short stature / dwarfism / nanism Frequent - Anteverted nares / nostrils - Clavicle absent / abnormal - Delayed bone age - Failure to thrive / difficulties for feeding in infancy / growth delay - Micrognathia / retrognathia / micrognathism / retrognathism - Prominent / bat ears - Rhizomelic micromelia Occasional - Abnormal / absent ossification - Choanal atresia - Inguinal / inguinoscrotal / crural hernia - Intellectual deficit / mental / psychomotor retardation / learning disability - Scoliosis - Short hand / brachydactyly - Undescended / ectopic testes / cryptorchidia / unfixed testes