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Ontology Browser
Term:
short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome (EFO:MONDO:0011227)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
3-M syndrome 
49,XYYYY syndrome 
8q22.1 microdeletion syndrome 
Aase-Smith syndrome 
Abruzzo-Erickson syndrome 
absent tibia-polydactyly-arachnoid cyst syndrome 
Ackerman syndrome 
acro-renal-mandibular syndrome 
acrocraniofacial dysostosis 
acrodysostosis +  
acrofacial dysostosis, Weyers type 
acrofrontofacionasal dysostosis 2 
acrorenal syndrome +  
Adamantinomatous Craniopharyngioma 
Al-Gazali syndrome 
Alagille syndrome +  
alar cartilages hypoplasia-coloboma-telecanthus syndrome 
anonychia-microcephaly syndrome 
anophthalmia plus syndrome 
anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome 
arrhinia-choanal atresia-microphthalmia syndrome 
Ascher syndrome 
atrioventricular defect-blepharophimosis-radial and anal defect syndrome 
auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome 
autosomal dominant prognathism 
autosomal recessive faciodigitogenital syndrome 
autosomal recessive multiple pterygium syndrome +  
Axenfeld-Rieger syndrome +  
Barber-Say syndrome 
Beare-Stevenson cutis gyrata syndrome 
Beemer-Ertbruggen syndrome 
Bencze syndrome 
bifid nose, autosomal recessive 
Binder syndrome 
blepharocheilodontic syndrome +  
blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome 
BNAR syndrome 
bone disease +   
bone marrow disorder +   
brachydactyly +  
brachydactyly-syndactyly syndrome 
brachydactyly-syndactyly-oligodactyly syndrome 
Brachymorphism-onychodysplasia-dysphalangism syndrome 
brachytelephalangy-dysmorphism-Kallmann syndrome 
Braddock syndrome 
branchio-oto-renal syndrome 
branchiooculofacial syndrome 
branchiootic syndrome 
Buschke-Ollendorff syndrome 
camptodactyly syndrome, Guadalajara type 1 
camptodactyly syndrome, Guadalajara type 2 
cartilage disease +   
cartilage-hair hypoplasia +  
cataract-aberrant oral frenula-growth delay syndrome 
cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome 
cervical spondylosis 
Charlie M syndrome 
cherubism 
CHILD syndrome 
choanal atresia 
choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 
chondroma +  
cleft lip-retinopathy syndrome 
cleft lip/palate-intestinal malrotation-cardiopathy syndrome 
cleft palate-lateral synechia syndrome 
CODAS syndrome 
Coffin-Siris syndrome +  
Cole-Carpenter syndrome 
congenital vertebral-cardiac-renal anomalies syndrome +  
contractures - webbed neck - micrognathia - hypoplastic nipples syndrome 
Cooper-Jabs syndrome 
craniofacial-deafness-hand syndrome 
craniolenticulosutural dysplasia 
cryptomicrotia-brachydactyly-excess fingertip arch syndrome 
Cyprus facial-neuromusculoskeletal syndrome 
Czeizel-Losonci syndrome 
Dahlberg-Borer-Newcomer syndrome 
deafness-craniofacial syndrome 
developmental malformations-deafness-dystonia syndrome 
diaphragmatic defect-limb deficiency-skull defect syndrome 
digitotalar dysmorphism 
dislocation of the hip-dysmorphism syndrome 
Donohue syndrome 
endocrine-cerebro-osteodysplasia syndrome 
even-plus syndrome 
familial congenital nasolacrimal duct obstruction 
familial thyroglossal duct cyst 
Fanconi anemia +  
femoral-facial syndrome 
fetal akinesia deformation sequence +  
fibrodysplasia ossificans progressiva 
Fibulo-ulnar hypoplasia-renal anomalies syndrome 
flatfoot  
Fontaine progeroid syndrome 
Fraser syndrome 
Freeman-Sheldon syndrome 
Frias syndrome 
frontofacionasal dysplasia 
genito-palato-cardiac syndrome 
gingival fibromatosis-facial dysmorphism syndrome 
Gordon syndrome 
grange syndrome 
Hammer Toe Syndrome  
hand-foot-genital syndrome 
heart defect - tongue hamartoma - polysyndactyly syndrome 
heart defects-limb shortening syndrome 
heart-hand syndrome type 2 
Hirschsprung disease-hearing loss-polydactyly syndrome 
Hirschsprung disease-type D brachydactyly syndrome 
Holt-Oram syndrome +  
Holzgreve-Wagner-Rehder syndrome 
hydrocephaly-tall stature-joint laxity syndrome 
hypertrichosis-acromegaloid facial appearance syndrome 
ichthyosis-oral and digital anomalies syndrome 
joint disease +   
Juberg-Hayward syndrome 
Keipert syndrome 
LADD syndrome +  
lethal congenital contracture syndrome 1 
lethal congenital contracture syndrome 2 
lethal congenital contracture syndrome 3 
macrosomia-microphthalmia-cleft palate syndrome 
macrostomia-preauricular tags-external ophthalmoplegia syndrome 
mandibuloacral dysplasia +  
mandibulofacial dysostosis with alopecia 
Marfan syndrome +  
Marshall syndrome 
Matthew-Wood syndrome 
McKusick-Kaufman syndrome 
median nodule of the upper lip 
Meniere disease  
mesomelic dwarfism-cleft palate-camptodactyly syndrome 
metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 
microcephaly-albinism-digital anomalies syndrome 
microcephaly-brachydactyly-kyphoscoliosis syndrome 
microcephaly-cardiac defect-lung malsegmentation syndrome 
microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type 
mullerian duct anomalies-limb anomalies syndrome 
multinodular goiter-cystic kidney-polydactyly syndrome 
multiple congenital anomalies-hypotonia-seizures syndrome 3 
Nager acrofacial dysostosis 
nasopalpebral lipoma-coloboma syndrome 
nephrosis-deafness-urinary tract-digital malformations syndrome 
night blindness-skeletal anomalies-dysmorphism syndrome 
Nijmegen breakage syndrome 
Nijmegen breakage syndrome-like disorder 
Noonan syndrome with multiple lentigines 
oculoauriculovertebral spectrum with radial defects +   
ossification of the posterior longitudinal ligament of the spine  
otofaciocervical syndrome 
otosclerosis  
otospondylomegaepiphyseal dysplasia, autosomal dominant 
PAGOD syndrome 
Papillary Craniopharyngioma 
PARC syndrome 
pelvis syndrome 
pentalogy of Cantrell 
PHAVER syndrome 
polydactyly +  
polysyndactyly-cardiac malformation syndrome 
postaxial acrofacial dysostosis 
posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome 
primary basilar invagination 
progressive non-infectious anterior vertebral fusion 
Pubic Symphysis Diastasis 
radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome 
rapadilino syndrome 
Rare genetic bone development disorder +   
renal-genital-middle ear anomalies 
rheumatic disease +   
Richieri Costa-da Silva syndrome 
Richieri Costa-Pereira syndrome 
Rienhoff syndrome 
scalp defects-postaxial polydactyly syndrome 
scalp-ear-nipple syndrome 
Schilbach-Rott syndrome 
short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 
short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome 
short stature-craniofacial anomalies-genital hypoplasia syndrome 
short stature-valvular heart disease-characteristic facies syndrome 
SHORT syndrome 
short tarsus-absence of lower eyelashes syndrome 
split hand-foot malformation 1 with sensorineural hearing loss 
split-foot malformation-mesoaxial polydactyly syndrome 
symphalangism +  
syndactyly +  
syndactyly-telecanthus-anogenital and renal malformations syndrome 
Synovial Chondromatosis 
Teebi-Shaltout syndrome 
temtamy preaxial brachydactyly syndrome 
tetraamelia-multiple malformations syndrome 
Thomas syndrome 
thymic-renal-anal-lung dysplasia 
tonsillar lymphoma 
tooth disease +   
Townes-Brocks syndrome 
Treacher-Collins syndrome +  
trigonocephaly-bifid nose-acral anomalies syndrome 
van den Ende-Gupta syndrome 
van der Woude syndrome +  
velo-facial-skeletal syndrome 
ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome 
Verloove Vanhorick-Brubakk syndrome 
vertebral column disorder +   
Vici syndrome 
von Voss-Cherstvoy syndrome 
Waardenburg syndrome +  
Warsaw breakage syndrome 
Weill-Marchesani syndrome +  
white forelock with malformations 
X-linked mandibulofacial dysostosis 
X-linked mixed hearing loss with perilymphatic gusher 

Synonyms
Exact Synonyms: SAMS syndrome ;   short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities
Related Synonyms: SAMS ;   short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities
Alternate IDs: MONDO:0011227
Xrefs: GARD:17633 ;   MEDGEN:355971 ;   MESH:C566544 ;   MIM:602471 ;   ORDO:397623 ;   SCTID:417081007 ;   UMLS:C1865361

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