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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
46,XY complete gonadal dysgenesis +  
Aicardi syndrome 
amelogenesis imperfecta type 1G 
aniridia +  
anorectal malformation +   
anterior segment dysgenesis +  
Aortic Coarctation +  
aortic valve stenosis +   
atresia of small intestine 
atypical Werner syndrome 
autosomal recessive frontotemporal pachygyria 
axial mesodermal dysplasia spectrum 
Berardinelli-Seip congenital lipodystrophy +  
bicornuate uterus 
blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome 
Bloom syndrome 
bone development disease +   
brachydactyly +  
branchial arch disease +   
bronchogenic cyst 
bronchopulmonary dysplasia  
camptodactyly of fingers 
cardiac valvular defect, developmental 
cataract - congenital heart disease - neural tube defect syndrome 
cephalocele +  
cerebral cortical dysplasia +  
Chudley-McCullough syndrome 
CK syndrome 
cleft lip and alveolus +  
cleft lip/palate +  
cleft palate-stapes fixation-oligodontia syndrome 
colonic atresia 
complex cortical dysplasia with other brain malformations +  
congenital achiasma 
congenital anomaly of cardiovascular system +   
congenital anomaly of kidney and urinary tract +  
congenital bilateral absence of vas deferens +  
congenital deformities of limbs +  
congenital elbow dislocation +  
congenital esophageal diverticulum 
congenital hydrocephalus +  
congenital knee dislocation +  
congenital patella dislocation +  
congenital primary megaureter +  
congenital short bowel syndrome +  
congenital shoulder dislocation 
congenital tricuspid malformation +  
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 
craniodiaphyseal dysplasia 
craniofacial dysplasia - osteopenia syndrome 
craniofacial dyssynostosis 
craniorachischisis 
deafness-oligodontia syndrome 
demyelinating disease +   
dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome 
developmental defect during embryogenesis +   
diencephalic-mesencephalic junction dysplasia 
distal renal tubular acidosis +  
distal symphalangism 
DNA ligase IV deficiency 
double uterus-hemivagina-renal agenesis syndrome 
duodenal atresia 
duplication of the pituitary gland 
duplication of urethra 
epibulbar lipodermoid-preauricular appendage-polythelia syndrome 
familial bicuspid aortic valve 
familial cystic renal disease +  
familial intestinal malrotation-facial anomalies syndrome 
familial isolated clinodactyly of fingers 
familial isolated congenital asplenia 
familial juvenile hyperuricemic nephropathy +  
familial median cleft of the upper and lower lips 
familial nephrotic syndrome +  
familial omphalocele syndrome with facial dysmorphism 
familial osteodysplasia, Anderson type 
familial partial lipodystrophy, Dunnigan type 
familial primary pulmonary hypoplasia 
familial renal glucosuria 
fibronectin glomerulopathy +  
Fowler syndrome 
gingival fibromatosis-progressive deafness syndrome 
hereditary cardiac anomaly +  
hereditary gingival fibromatosis 
hereditary kidney oncocytoma 
hereditary lethal multiple congenital anomalies/dysmorphic syndrome +  
hereditary nephritis +   
hereditary renal cell carcinoma +  
hereditary Wilms tumor +  
high anorectal malformation 
horizontal gaze palsy with progressive scoliosis 
hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome 
hypohidrotic ectodermal dysplasia +  
hypophosphatemic nephrolithiasis/osteoporosis 1 
hypophosphatemic nephrolithiasis/osteoporosis 2 
hypospadias  
imperforate anus 
inherited focal segmental glomerulosclerosis +  
inherited pseudohypoaldosteronism +  
inherited renal tubular disease +  
intermediate anorectal malformation 
isolated cerebellar hypoplasia/agenesis 
isolated cleft lip +  
isolated congenital digital clubbing 
Jalili syndrome 
Joubert syndrome +  
keratinization disease +   
L1 syndrome +  
Liddle syndrome +  
lissencephaly spectrum disorders +  
loose anagen syndrome +  
low anorectal malformation 
Lowe-Kohn-Cohen syndrome 
lower limb hypertrophy 
lung agenesis-heart defect-thumb anomalies syndrome 
macrocephaly-autism syndrome 
macrodactyly of fingers +  
macrodactyly of toes +  
medullary sponge kidney 
megalencephaly +  
megalodactyly 
microcephaly +  
microcephaly-polymicrogyria-corpus callosum agenesis syndrome 
Morgagni-Stewart-Morel syndrome 
mulibrey nanism 
multicystic dysplastic kidney +  
multiple intestinal atresia 
nail-patella-like renal disease 
Nance-Horan syndrome 
natal teeth-intestinal pseudoobstruction-patent ductus syndrome 
nephrolithiasis, calcium oxalate +  
neurocristopathy +   
neurohypophyseal diabetes insipidus 
non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome 
Noonan syndrome and Noonan-related syndrome +  
oculocerebral hypopigmentation syndrome, Cross type 
oculodental syndrome, Rutherfurd type 
odontomatosis-aortae esophagus stenosis syndrome 
otodental syndrome 
otofaciocervical syndrome 
overgrowth syndrome +  
pancreatic agenesis +  
penoscrotal transposition 
pericardial and diaphragmatic defect 
polydactyly +  
porencephaly-microcephaly-bilateral congenital cataract syndrome 
postaxial polydactyly-dental and vertebral anomalies syndrome 
precocious puberty +   
primary basilar invagination 
progeroid features-hepatocellular carcinoma predisposition syndrome 
progressive cerebello-cerebral atrophy 
progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 
prune belly syndrome 
renal agenesis +   
Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively), accompanied by absent ureter(s).
renal dysplasia +  
renal hypoplasia +  
renal tubular dysgenesis of genetic origin 
Rothmund-Thomson syndrome +  
spina bifida +  
steatocystoma multiplex-natal teeth syndrome 
steroid dehydrogenase deficiency-dental anomalies syndrome 
syndactyly +  
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency 
thumb deformity-alopecia-pigmentation anomaly syndrome 
torticollis-keloids-cryptorchidism-renal dysplasia syndrome 
upper limb hypertrophy 
uterine hypoplasia 
X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome 

Synonyms
Exact Synonyms: DOID:14766 ;   NCIT:C99041 ;   Orphanet:411709 ;   absent/small kidney ;   absent/underdeveloped kidney ;   hereditary renal aplasia ;   hereditary urogenital adysplasia ;   http://identifiers.org/medgen/154237 ;   http://identifiers.org/snomedct/204942005 ;   http://linkedlifedata.com/resource/umls/id/C0542519
Related Synonyms: renal hypodysplasia/aplasia
Alternate IDs: MONDO:0018470
Xrefs: DOID:14766 ;   GARD:9228 ;   HP:0000104 ;   HP:0008678 ;   MEDGEN:154237 ;   MIM:PS191830 ;   NANDO:2200156 ;   NCI:C99041 ;   ORDO:411709 ;   SCTID:204942005
Definition Sources: Orphanet:411709

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