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Ontology Browser
Term:
agnathia-otocephaly complex (DOID:0060341)
Annotations: Rat: (3) Mouse: (3) Human: (3) Chinchilla: (3) Bonobo: (3) Dog: (3) Squirrel: (3) Pig: (3)
Parent Terms Term With Siblings Child Terms
holoprosencephaly +     
Jaw Abnormalities +     
physical disorder +     
Acrorenal Mandibular Syndrome 
Agnathia-Microstomia-Synotia 
agnathia-otocephaly complex  
A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported. (DO)
arthrogryposis multiplex congenita +   
autosomal dominant congenital deafness with onychodystrophy  
autosomal recessive congenital ichthyosis +   
bladder exstrophy-epispadias-cloacal exstrophy complex +   
blepharophimosis +   
caudal regression syndrome  
cleft palate +   
cleft palate-lateral synechia syndrome 
Compton-North congenital myopathy  
congenital adrenal hyperplasia +   
congenital adrenal insufficiency  
congenital afibrinogenemia +   
congenital amegakaryocytic thrombocytopenia +   
congenital aphakia  
congenital bilateral absence of vas deferens +   
congenital bile acid synthesis defect +   
congenital central hypoventilation syndrome +   
congenital chylothorax  
congenital contractural arachnodactyly  
congenital diaphragmatic hernia +   
congenital diarrhea +   
congenital disorder of glycosylation +   
congenital epulis 
congenital fibrosarcoma  
congenital fibrosis of the extraocular muscles +   
Congenital Foot Deformities +   
congenital generalized lipodystrophy +   
congenital granular cell tumor 
congenital heart block +   
congenital heart disease +   
congenital hemolytic anemia +   
congenital hereditary endothelial dystrophy of cornea  
congenital hypogammaglobulinemia 
congenital hypoplastic anemia +   
congenital hypothyroidism +   
congenital hypotrichosis with juvenile macular dystrophy  
congenital intrinsic factor deficiency  
congenital lactase deficiency  
congenital leptin deficiency  
congenital megabladder  
congenital mesoblastic nephroma +   
congenital mirror movement disorder +   
congenital muscular dystrophy +   
congenital myasthenic syndrome +   
congenital myopathy 4A +   
congenital nervous system abnormality +   
congenital nystagmus +   
congenital ptosis +   
congenital stationary night blindness +   
congenital stromal corneal dystrophy  
congenital structural myopathy +   
congenital sucrase-isomaltase deficiency  
congenital syphilis +  
congenital toxoplasmosis  
cryptophthalmia +   
epidermolysis bullosa with congenital localized absence of skin and deformity of nails  
External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation 
gastroschisis +   
Genoa Syndrome 
gnathodiaphyseal dysplasia  
holoprosencephaly 1  
Holoprosencephaly 10  
holoprosencephaly 11  
Holoprosencephaly 12  
Holoprosencephaly 13  
Holoprosencephaly 14  
holoprosencephaly 2  
holoprosencephaly 3  
holoprosencephaly 4  
holoprosencephaly 5  
holoprosencephaly 6 
holoprosencephaly 7  
holoprosencephaly 8 
holoprosencephaly 9  
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
Holoprosencephaly, Recurrent Infections, and Monocytosis 
Hypoglossia-Hypodactylia 
hypospadias +   
imperforate anus +   
INTELLECTUAL DISABILITY, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS  
jaw-winking syndrome 
Klippel-Feil syndrome +   
Lambotte Syndrome 
large congenital melanocytic nevus  
laryngomalacia +   
Leber congenital amaurosis +   
lethal congenital contracture syndrome +   
lethal congenital glycogen storage disease of heart  
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome  
Meckel's diverticulum 
Microgastria Limb Reduction Defect 
Micrognathism +   
MLS syndrome +   
multiple congenital anomalies-hypotonia-seizures syndrome +   
myotonia congenita +   
neural tube defect +   
non-congenital cyst of kidney 
nonsyndromic congenital nail disorder +   
Nonsyndromic Holoprosencephaly 
omphalocele  
Ophthalmomandibulomelic Dysplasia 
orofacial cleft +   
palmoplantar keratoderma and congenital alopecia 1  
palmoplantar keratoderma and congenital alopecia 2 
Poland syndrome 
polydactyly +   
primary congenital glaucoma +   
Prognathism +   
Pseudotrisomy 13 Syndrome  
radioulnar synostosis +   
rapidly involuting congenital hemangioma 
Retrognathia +   
severe congenital encephalopathy due to MECP2 mutation  
severe congenital neutropenia +   
Silver-Russell syndrome +   
spondyloepiphyseal dysplasia with congenital joint dislocations  
Steinfeld Syndrome 
T-cell immunodeficiency, congenital alopecia, and nail dystrophy  
TORCH syndrome 
Verloove-Vanhorick Brubakk Syndrome 
visceral heterotaxy +   
Weissenbacher-Zweymuller syndrome +   
X-linked Microhydranencephaly 
Zika virus congenital syndrome 

Synonyms
Exact Synonyms: AGOTC ;   agnathia-holoprosencephaly ;   agnathia-holoprosencephaly-situs inversus syndrome ;   dysgnathia complex ;   dysgnathia complex, agnathia-holoprosencephaly ;   otocephaly
Primary IDs: MESH:C537996 ;   MESH:C562503
Alternate IDs: OMIM:202650
Xrefs: ICD10CM:Q18.2 ;   ORDO:990
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/17438667 "DO" "DO"

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