Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Jaw Diseases (D007571)
Parent Node: Maxillofacial Abnormalities (D019767)
..Starting node ..Jaw Abnormalities (D007569)
Child Nodes:
........Acrorenal mandibular syndrome (C535665)
........Agnathia-microstomia-synotia (C538059)
........Cleft Palate (D002972) 103
........Cleft Palate-Lateral Synechia Syndrome (C563047)
........Dysgnathia complex (C537996)
........External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation (C566509)
........GNATHODIAPHYSEAL DYSPLASIA (OMIM:166260)
........Hypoglossia-Hypodactylia (C566308)
........Marcus Gunn phenomenon (C535908)
........MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS (OMIM:613671)
........Micrognathism (D008844) 20
........Ophthalmomandibulomelic Dysplasia (C563501)
........Pierre Robin Syndrome (D010855) 18
........Prognathism (D011378) 4
........Retrognathia (D063173) 3
........Verloove-Vanhorick Brubakk syndrome (C536541)
Sister Nodes:
..Abruzzo Erickson syndrome (C535559)
..Ackerman syndrome (C538170)
..Bifid Nose, Autosomal Dominant (C567781)
..Cherubism (D002636) 2
..Dentofacial Deformities (D063169)
..Jaw Abnormalities (D007569) 158
..Maxillofacial Dysostosis (C563599)
..Maxillonasal dysplasia, Binder type (C536036)
..Oculomaxillofacial dysostosis (C537736)
..Robinow syndrome, autosomal recessive (C535863)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5949
Name:	Jaw Abnormalities
Definition:	Congenital absence of or defects in structures of the jaw.
Alternative IDs:
ParentIDs:	MESH:D007571\|MESH:D019767
TreeNumbers:	C05.500.460 \|C05.660.207.540.460 \|C07.320.440 \|C07.650.500.460 \|C16.131.621.207.540.460 \|C16.131.850.500.460
Synonyms:	Abnormalities, Jaw \|Abnormality, Jaw \|Jaw Abnormality
Slim Mappings:	Congenital abnormality\|Mouth disease\|Musculoskeletal disease
Reference:	MedGen: D007569 MeSH: D007569 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants