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Term:
Rare genetic bone development disorder (EFO:Orphanet:404584)
Annotations: Rat: (0) Mouse: (0) Human: (3) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
14q22q23 microdeletion syndrome 
15q13.3 microdeletion syndrome 
15q24 microdeletion syndrome 
17p13.3 microduplication syndrome 
17q21.31 microdeletion syndrome 
17q21.31 microduplication syndrome 
19p13.13 microdeletion syndrome 
19q13.11 microdeletion syndrome 
5p13 microduplication syndrome 
8q21.11 microdeletion syndrome 
Adamantinomatous Craniopharyngioma 
ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder 
Adult-onset autosomal recessive sideroblastic anemia 
Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis 
Agnathia - holoprosencephaly - situs inversus 
Al-Gazali syndrome 
Alar cartilages hypoplasia - coloboma - telecanthus 
Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis 
Anonychia - microcephaly 
Anophthalmia - megalocornea - cardiopathy - skeletal anomalies 
Aortic arch anomaly - peculiar facies - intellectual disability 
Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability 
Arachnodactyly - abnormal ossification - intellectual disability 
Arrhinia - choanal atresia - microphthalmia 
Aymé-Gripp syndrome 
Baraitser-Winter syndrome 
Blepharophimosis-intellectual disability syndrome +  
bone disease +   
bone marrow disorder +   
brachydactyly +  
Brachydactyly - mesomelia - intellectual disability - heart defects 
Brachydactyly - nystagmus - cerebellar ataxia 
brachydactyly-syndactyly syndrome 
brachydactyly-syndactyly-oligodactyly syndrome 
Brachymorphism-onychodysplasia-dysphalangism syndrome 
Brain malformation - congenital heart disease - postaxial polydactyly 
Branchio-otic syndrome 
Branchio-skeleto-genital syndrome 
Buschke-Ollendorff syndrome 
Cantrell pentalogy 
Capillary malformation - arteriovenous malformation 
Cardiac anomalies-developmental delay-facial dysmorphism syndrome 
Cardiomyopathy - hypotonia - lactic acidosis 
cartilage disease +   
cartilage-hair hypoplasia +  
Cataract - deafness - hypogonadism 
Caudal appendage - deafness 
Cerebro-facio-articular syndrome 
cervical spondylosis 
cherubism 
Choanal atresia-deafness-cardiac defects-dysmorphism syndrome 
chondroma +  
Coffin-Siris syndrome +  
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy 
Congenital disorder of glycosylation with developmental anomaly +  
Congenitally uncorrected transposition of the great arteries 
Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome 
Cortical blindness - intellectual disability - polydactyly 
Craniodigital syndrome - intellectual disability 
Cryptomicrotia - brachydactyly - excess fingertip arch 
Cryptorchidism - arachnodactyly - intellectual disability 
Deafness - genital anomalies - metacarpal and metatarsal synostosis 
Deafness - intellectual disability, Martin-Probst type 
Delayed speech - facial asymmetry - strabismus - ear lobe creases 
Dermato-cardio-skeletal syndrome, Borrone type 
Developmental malformations - deafness - dystonia 
Diaphragmatic defect - limb deficiency - skull defect 
Dislocation of the hip - dysmorphism 
Double outlet right ventricle with doubly committed ventricular septal defect 
Double outlet right ventricle with subaortic ventricular septal defect 
Dwarfism - intellectual disability - eye abnormality 
Early infantile epileptic encephalopathy without suppression burst 
endocrine-cerebro-osteodysplasia syndrome 
Epilepsy - microcephaly - skeletal dysplasia 
Epilepsy telangiectasia 
Epileptic encephalopathy with global cerebral demyelination 
Epiphyseal dysplasia - hearing loss - dysmorphism 
Facial dysmorphism - shawl scrotum - joint laxity 
Fallot complex - intellectual disability - growth delay 
fibrodysplasia ossificans progressiva 
flatfoot  
Genetic branchial arch or oral-acral syndrome +  
Genetic central nervous system malformation +  
Genetic congenital limb malformation +  
Genetic cranial malformation +   
Genetic developmental defect of the eye +  
Genetic digestive tract malformation +  
Genetic disorder of sex development +  
Genetic malformation syndrome with odontal and/or periodontal component +  
Genetic malformation syndrome with short stature +  
Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability +  
Genetic neurovascular malformation +  
Genetic overgrowth/obesity syndrome +  
Genetic renal or urinary tract malformation +  
Genetic respiratory or mediastinal malformation +  
Genetic visceral malformation of the liver, biliary tract, pancreas or spleen +  
Gerbode defect 
Hammer Toe Syndrome  
Heart defect - round face - congenital developmental delay 
Heart defect-tongue hamartoma-polysyndactyly syndrome 
Heart defects - limb shortening 
Holoprosencephaly - postaxial polydactyly 
Hyaluronidase deficiency 
Hydrocephaly - tall stature - joint laxity 
Hypertelorism - hypospadias - polysyndactyly syndrome 
Hypospadias - intellectual disability, Goldblatt type 
Hypotonia - cystinuria type 1 +  
Intellectual disability - craniofacial dysmorphism - cryptorchidism 
Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus 
Intellectual disability - polydactyly - uncombable hair 
Intellectual disability - short stature - hypertelorism 
intellectual disability - sparse hair - brachydactyly 
Isolated ATP synthase deficiency 
Isolated CoQ-cytochrome C reductase deficiency 
Isolated cytochrome C oxidase deficiency 
joint disease +   
Leprechaunism 
LIG4 syndrome 
Lipoic acid biosynthesis defect +  
Lymphedema - cleft palate 
Macrocephaly - short stature - paraplegia 
Macrocephaly - spastic paraplegia - dysmorphism 
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 
Macrostomia - preauricular tags - external ophthalmoplegia 
Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies 
Malformation syndrome with connective tissue involvement +  
Malformation syndrome with hamartosis +  
Malformation syndrome with skin/mucosae involvement +  
Marfan syndrome +  
Marfanoid habitus - intellectual disability, autosomal recessive 
metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 
Micro syndrome 
Microcephaly - albinism - digital anomalies 
Microcephaly - cardiac defect - lung malsegmentation 
Microcephaly - deafness - intellectual disability 
Microcephaly - glomerulonephritis - marfanoid habitus 
Microcephaly - seizures - intellectual disability - heart disease 
microcephaly-brachydactyly-kyphoscoliosis syndrome 
Microduplication Xp11.22-p11.23 syndrome 
Microphthalmia - ankyloblepharon - intellectual disability 
Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies +  
Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies +  
Mohr-Tranebjaerg syndrome 
Mucocutaneous venous malformations 
Multinodular goiter - cystic kidney - polydactyly 
multiple congenital anomalies-hypotonia-seizures syndrome 3 
Multiple sulfatase deficiency 
Multiple ventricular septal defects 
Muscular hypertrophy - hepatomegaly - polyhydramnios 
Müllerian duct anomalies - limb anomalies 
Night blindness - skeletal anomalies - dysmorphism 
Oculo-oto-facial dysplasia 
Ophthalmoplegia - intellectual disability - lingua scrotalis 
ossification of the posterior longitudinal ligament of the spine  
Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism 
Papillary Craniopharyngioma 
Paraplegia - intellectual disability - hyperkeratosis 
polydactyly +  
Polysyndactyly - cardiac malformation 
Posterior fusion of lumbosacral vertebrae - blepharoptosis 
Preaxial polydactyly - colobomata - intellectual disability 
primary basilar invagination 
Prominent glabella - microcephaly - hypogenitalism 
Pterygium colli - intellectual disability - digital anomalies 
Ptosis - syndactyly - learning difficulties 
Pubic Symphysis Diastasis 
Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema 
Rare genetic bone development disorder +   
Rare otorhinolaryngological malformation +  
rheumatic disease +   
Rienhoff syndrome 
Sanjad-Sakati syndrome 
scalp defects-postaxial polydactyly syndrome 
Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency 
Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia 
Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome 
Short stature - craniofacial anomalies - genital hypoplasia 
Short stature - valvular heart disease - characteristic facies 
Short stature - webbed neck - heart disease 
short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 
short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome 
Short tarsus - absence of lower eyelashes 
Short ulna - dysmorphism - hypotonia - intellectual disability 
sialidosis type II +  
Single ventricular septal defect 
Situs inversus totalis 
Split hand - urinary anomalies - spina bifida 
symphalangism +  
syndactyly +  
Syndromic X-linked intellectual disability due to JARID1C mutation 
Synovial Chondromatosis 
Taussig-Bing syndrome 
Teebi-Shaltout syndrome 
Telecanthus - hypertelorism - strabismus - pes cavus 
TELO2-related intellectual disability-neurodevelopmental disorder 
Temple-Baraitser syndrome 
temtamy preaxial brachydactyly syndrome 
tooth disease +   
Trigonocephaly - bifid nose - acral anomalies 
Unspecified mitochondrial disorder 
Upper limb defect - eye and ear abnormalities 
vertebral column disorder +   
Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay 
X-linked creatine transporter deficiency 
X-linked intellectual disability - cubitus valgus - dysmorphism 
X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism 
X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration +  
X-linked intellectual disability, Abidi type 
X-linked intellectual disability, Shashi type 
X-linked intellectual disability, Siderius type 
X-linked intellectual disability, Vitale type 
X-linked intellectual disability, Wittwer type 
Zellweger syndrome 

Synonyms
Exact Synonyms: Rare genetic skeletal development disorder

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