Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Dwarfism +     
3-M syndrome +   
Aarskog syndrome +   
Abuse Dwarfism Syndrome 
achondroplasia +   
acromesomelic dysplasia +   
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Alopecia Contractures Dwarfism Mental Retardation 
AMED syndrome  
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
anauxetic dysplasia +   
A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. (DO)
Astley-Kendall Syndrome 
Asymmetric Short Stature Syndrome 
Atelosteogenesis Type 3  
Bangstad Syndrome 
Bird Headed Dwarfism Montreal Type 
Boomerang dysplasia  
Brachydactylous Dwarfism Mseleni Type 
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 
Brunoni Syndrome 
Bullous Dystrophy, Hereditary Macular Type 
Cantu Sanchez-Corona Fragoso Syndrome 
Chondrodysplasia Calcificans Metaphysealis 
Cockayne syndrome +   
congenital hypothyroidism +   
De Sanctis-Cacchione syndrome  
Desbuquois dysplasia +   
Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair 2  
diastrophic dysplasia +   
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 
Dwarfism Stiff Joint Ocular Abnormalities 
Dwarfism Tall Vertebrae 
Dwarfism, Levi Type 
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone 
Dyggve-Melchior-Clausen disease +   
Dyssegmental Dysplasia with Glaucoma 
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
Familial Dwarfism with Muscle Spasms 
Familial Synovial Chondromatosis with Dwarfism 
fibrochondrogenesis +   
geroderma osteodysplasticum  
Growth Hormone Insensitivity with Immune Dysregulation +   
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Hadziselimovic Syndrome 
hypochondroplasia  
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature  
intellectual developmental disorder with short stature and behavioral abnormalities  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS  
isolated growth hormone deficiency +   
JOINT LAXITY, SHORT STATURE, AND MYOPIA  
Juberg Hayward Syndrome  
Kenny-Caffey syndrome type 2  
Keratosis Follicularis Dwarfism Cerebral Atrophy 
Kniest dysplasia  
Laplane Fontaine Lagardere Syndrome 
Laron syndrome  
Lessel-Kubisch Syndrome  
Liberfarb Syndrome  
Loucks-Innes Syndrome  
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type 
Mesomelic Dwarfism Reinhardt Pfeiffer Type 
Metatropic Dwarfism, Type II 
metatropic dysplasia  
Microcephalic Osteodysplastic Primordial Dwarfism +   
Microcephalic Primordial Dwarfism Toriello Type 
Microcephaly, Short Stature, and Impaired Glucose Metabolism +   
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures  
Mollica Pavone Antener Syndrome 
mulibrey nanism  
Nievergelt Syndrome 
Oculopalatocerebral Syndrome 
Oliver-McFarlane syndrome  
otospondylomegaepiphyseal dysplasia, autosomal recessive  
parastremmatic dwarfism  
Proportionate Dwarfism with Hip Dislocation 
Pseudodiastrophic Dysplasia 
rapadilino syndrome  
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay  
Robinow syndrome +   
Rommen Mueller Sybert Syndrome 
Ruvalcaba Syndrome 
Schimke immuno-osseous dysplasia  
Seckel Like Syndrome Type Buebel 
Seckel syndrome 1  
Seckel syndrome 2  
Seckel Syndrome 3 
Seckel syndrome 4  
Short Limb Dwarfism Al Gazali Type 
Short Stature and Facioauriculothoracic Malformations 
Short Stature and Microcephaly with Genital Anomalies  
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES  
SHORT STATURE, DAUBER-ARGENTE TYPE  
Short Stature, Developmental Delay, and Congenital Heart Defects  
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +   
short stature, hearing loss, retinitis pigmentosa, and distinctive facies  
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION  
SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY  
Short Stature-Obesity Syndrome 
Silver-Russell syndrome +   
Silverman-Handmaker type dyssegmental dysplasia  
Singh Chhaparwal Dhanda Syndrome 
SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE  
Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 
Spondyloepimetaphyseal Dysplasia with Hypotrichosis 
spondyloepimetaphyseal dysplasia with joint laxity +   
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type  
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
spondyloepimetaphyseal dysplasia, Genevieve-type  
Spondyloepimetaphyseal Dysplasia, Irapa Type 
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type  
Spondyloepimetaphyseal Dysplasia, Krakow Type  
spondyloepimetaphyseal dysplasia, Missouri type  
spondyloepimetaphyseal dysplasia, Pakistani type  
Spondyloepimetaphyseal Dysplasia, Shohat Type  
spondyloepimetaphyseal dysplasia, Sponastrime type  
spondyloepimetaphyseal dysplasia, Strudwick type  
Spondyloepiphyseal Dysplasia Tarda, Toledo Type 
spondylometaepiphyseal dysplasia, short limb-hand type  
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type  
Tessadori-van Haaften Neurodevelopmental Syndrome 1  
Thoraco Limb Dysplasia Rivera Type 
Thoracomelic Dysplasia 
Tryptophanuria with Dwarfism 
Weill-Marchesani syndrome +   
X-linked spondyloepimetaphyseal dysplasia  
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy   
ZAKI SYNDROME  

Synonyms
Exact Synonyms: anauxetic dysplasias
Alternate IDs: DOID:9009210
Xrefs: OMIM:PS607095
Definition Sources: https://www.ncbi.nlm.nih.gov/books/NBK84550/ "DO" "DO"

paths to the root