FTP Download
Chinchilla Research Resource Database
   
Keyword
  

Ontology Browser

Term:
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (DOID:9001094)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
Absent Patella 
acheiropody  
achondrogenesis +   
achondroplasia +   
acrocapitofemoral dysplasia  
acrodysostosis +   
Acrodysplasia Scoliosis 
Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia 
acromesomelic dysplasia +   
acromesomelic dysplasia, Grebe type  
Acropectorovertebral Dysplasia 
adenosine deaminase deficiency  
Akaba Hayasaka Syndrome 
ALKURAYA-KUCINSKAS SYNDROME  
Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia  
anauxetic dysplasia 1  
Anauxetic Dysplasia 2  
Antecubital Pterygium 
Arthrogryposis +   
asphyxiating thoracic dystrophy +   
atelosteogenesis +   
Attention Deficit and Disruptive Behavior Disorders +   
Auriculoosteodysplasia 
Autoimmune Diseases +   
BAKER-GORDON SYNDROME  
bejel 
Blount's disease 
bone benign neoplasm +   
Bone Cysts +   
bone development disease +   
bone inflammation disease +   
Bone Malalignment +   
Bone Neoplasms +   
bone remodeling disease +   
bone resorption disease +   
bone structure disease +   
Boomerang dysplasia  
brachyolmia +   
Caffey disease +   
campomelic dysplasia +   
Camurati-Engelmann disease +   
Cartilage Hair Hypoplasia Like Syndrome 
cartilage-hair hypoplasia  
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA  
CD3delta deficiency 
CD3epsilon deficiency 
CD3gamma deficiency 
CD3zeta deficiency 
CD45 deficiency 
Cervical Rib Syndrome +  
Child Behavior Disorders +   
Childhood Schizophrenia  
chondrodysplasia Blomstrand type  
Chondrodysplasia Calcificans Metaphysealis 
chondrodysplasia punctata +   
Chondrodysplasia with Joint Dislocations, GPAPP Type  
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia  
Chondrodysplasia, Megarbane-Dagher-Melki Type  
chondrodysplasia-pseudohermaphroditism syndrome  
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 
chronic granulomatous disease +   
cleidocranial dysplasia +   
Cleidorhizomelic Syndrome 
Cloverleaf Skull Micromelia Thoracic Dysplasia 
CLOVES syndrome  
CODAS Syndrome  
Cohen-Gibson Syndrome  
Collagenopathy, Type 2 Alpha 1 
Coloboma of Alar-Nasal Cartilages with Telecanthus 
Combined Cellular and Humoral Immune Defects with Granulomas  
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia  
communication disorder +   
Congenital Absence of Gluteal Muscles 
Congenital Absence of the Sternocleidomastoid Muscle 
Congenital Hip Dislocation +   
Congenital Limb Deformities +   
Congenital Micromelic Dysplasia with Dislocation of Radius +   
coronin-1A deficiency  
Coxa Magna 
Coxa Valga 
Craniofacial Abnormalities +   
cystic echinococcosis 
Czech Dysplasia, Metatarsal Type  
Desbuquois dysplasia +   
developmental coordination disorder  
Developmental Disabilities +   
diastrophic dysplasia  
Dyschondrosteosis and Nephritis 
Eiken Skeletal Dysplasia  
Ellis-Van Creveld syndrome +   
Endocrine Bone Diseases +   
Eosinophilic Granuloma 
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
Epiphyseal Dysplasia, Baumann Type 
Epiphyseal Dysplasia, Multiple, with Miniepiphyses 
Epiphyseal Dysplasia, Multiple, with Myopathy 
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness  
Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia 
Epiphyses, Slipped +  
Expansile Bone Lesions 
Fairbank Disease 
Faye-Petersen Ward Carey Syndrome 
fetal erythroblastosis +   
fibrochondrogenesis +   
Fibrous Dysplasia of Bone +   
Fraser Jequier Chen Syndrome 
Frontometaphyseal Dysplasia  
Frontometaphyseal Dysplasia 2  
Frontootopalatodigital Osteodysplasia 
Funnel Chest +   
GABRIELE-DE VRIES SYNDROME  
gastroschisis +   
Genu Valgum +   
Genu Varum +   
Gerodermia Osteodysplastica  
Ghosal Hematodiaphyseal Dysplasia  
Graft vs Host Disease  
Greenberg Dysplasia  
Hajdu-Cheney syndrome  
HAREL-YOON SYNDROME  
Hip Dysplasia, Beukes Type  
HLA Class 1 Deficiency 
Ho Kaufman Mcalister Syndrome 
Hyperostosis Frontalis Interna +  
hypersensitivity reaction disease +   
Hypertelorism, Severe, with Midface Prominence, Myopia, Mental Retardation, and Bone Fragility  
hypertrichotic osteochondrodysplasia Cantu type  
hypochondrogenesis  
hypochondroplasia  
hypohidrotic ectodermal dysplasia +   
hypoparathyroidism-retardation-dysmorphism syndrome  
IMAGe syndrome  
IMAGEI Syndrome  
Immune Dysfunction with T-Cell Inactivation due to Calcium Entry Defect 1  
Immune Dysfunction with T-Cell Inactivation due to Calcium Entry Defect 2  
Immune Reconstitution Inflammatory Syndrome 
Immune Response to Synthetic Polypeptide--IrGAT 
Immune Suppression 
immune system cancer +   
Immunodeficiency 48  
Immunoproliferative Disorders +   
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES  
Infectious Bone Diseases +   
INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY  
intellectual disability +   
interleukin-7 receptor alpha deficiency 
ischemic bone disease +   
JABERI-ELAHI SYNDROME  
janus kinase-3 deficiency  
Jequier Kozlowski Skeletal Dysplasia 
Joint Dislocations +   
Kashin-Beck Disease  
Kennerknecht Vogel Syndrome 
KLEEFSTRA SYNDROME 2  
Klippel-Feil syndrome +   
Kniest dysplasia  
Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis 
Kozlowski Tsuruta Taki Syndrome 
Langer Mesomelic Dysplasia  
Laplane Fontaine Lagardere Syndrome 
Larsen Syndromes +   
Laryngomalacia +  
learning disability +   
Leri-Weill dyschondrosteosis  
Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density 
Leukoencephalopathy with Metaphyseal Chondrodysplasia 
Lopes-Maciel-Rodan Syndrome  
Lowry Wood Syndrome 
lymphatic system disease +   
Lymphoblastic Transformation, Inhibition of 
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
Madelung Deformity 
Maffucci syndrome 
Marshall Syndrome +   
membranoproliferative glomerulonephritis +   
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type 
Mesomelic Dwarfism Reinhardt Pfeiffer Type 
Mesomelic Dysplasia, Savarirayan Type 
Metabolic Bone Diseases +   
Metaphyseal Anadysplasia +   
Metaphyseal Chondrodysplasia +   
metaphyseal dysplasia +   
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly  
Metaphyseal Dysplasia with Maxillary Hypoplasia with or without Brachydactyly  
Metaphyseal Dysplasia without Hypotrichosis  
Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 
Metaphyseal Dysplasia, Braun-Tinschert Type 
Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth 
Metatropic Dwarfism  
Metatropic Dwarfism, Type II 
MHC class I deficiency  
MHC class II deficiency  
Microcephalic Osteodysplastic Primordial Dwarfism +   
MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES  
Microcephaly-Micromelia Syndrome  
Micromelic Dwarfism Fryns Type 
midface dysplasia 
Mitochondrial Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures  
Miura type epiphyseal chondrodysplasia  
Monocyte Chemotactic Disorder 
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 
multiple epiphyseal dysplasia +   
mutism  
Nasu-Hakola disease  
Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities 
NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER  
Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction 
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE  
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia   
NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE  
NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH  
Neutrophil Chemotactic Response, Abnormal 
Nievergelt Syndrome 
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME  
Ollier disease  
Omenn syndrome  
omodysplasia +   
Opsismodysplasia  
Osebold Skeletal Dysplasia Osteolysis Syndrome 
Osteoarthritis with Mild Chondrodysplasia  
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE  
Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 
Osteochondroma +   
osteochondrosis +   
Osteodysplasia, Familial, Anderson Type 
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski 
osteogenesis imperfecta +   
Osteoglophonic Dwarfism  
osteonecrosis +   
osteosclerosis +   
Oto-Palato-Digital Syndrome Type 1  
Oto-Palato-Digital Syndrome, Type 2  
Otopalatodigital Spectrum Disorder  
otospondylomegaepiphyseal dysplasia  
otulipenia  
Paget's disease of bone +   
paracoccidioidomycosis +   
Pectus Carinatum  
Pelvis-Shoulder Dysplasia 
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
Pervasive Child Development Disorders +   
PILAROWSKI-BJORNSSON SYNDROME  
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2  
Polydysspondyly 
primary hypertrophic osteoarthropathy +   
primary immunodeficiency disease +   
progressive pseudorheumatoid arthropathy of childhood  
PSEUDO-TORCH SYNDROME 2  
pseudoachondroplasia  
Pseudoarthrogryposis 
Pubic Bone Dysplasia 
pycnodysostosis  
Radiation Sensitivity of Natural Killer Activity 
Reactive Attachment Disorder 
recombinase activating gene 1 deficiency 
recombinase activating gene 2 deficiency  
reticular dysgenesis  
Reticuloendotheliosis, X-Linked 
Roifman Syndrome  
Sacral Agenesis with Vertebral Anomalies  
Sacrococcygeal Dysgenesis Association 
SAPHO syndrome  
SAUL-WILSON SYNDROME  
Schaefer Stein Oshman Syndrome 
schneckenbecken dysplasia  
Schwartz-Jampel syndrome 1  
Sclerosing Bone Dysplasia Mental Retardation 
separation anxiety disorder  
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
severe combined immunodeficiency with sensitivity to ionizing radiation  
Severe Combined Immunodeficiency, Atypical  
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive  
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative  
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive  
Short Stature Syndrome, Brussels Type 
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES  
Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 
Silverman-Handmaker type dyssegmental dysplasia  
Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 
Sketetal Dysplasia Coarse Facies Mental Retardation 
Skraban-Deardorff Syndrome  
Slipped Capital Femoral Epiphyses 
Spastic Paraplegia and Psychomotor Retardation with or without Seizures  
sphenoid sinusitis +  
spinal disease +   
Spinal Dysplasia, Anhalt Type 
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia  
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like  
Spondyloenchondrodysplasia  
spondyloepimetaphyseal dysplasia +   
Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 
Spondyloepimetaphyseal Dysplasia with Hypotrichosis 
Spondyloepimetaphyseal Dysplasia with Joint Laxity  
Spondyloepimetaphyseal Dysplasia with Multiple Dislocations  
Spondyloepimetaphyseal Dysplasia, Genevieve Type  
Spondyloepimetaphyseal Dysplasia, Irapa Type 
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related  
Spondyloepimetaphyseal Dysplasia, Shohat Type  
Spondyloepimetaphyseal Dysplasia, X-Linked  
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant 
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive 
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type 
Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 
spondyloepiphyseal dysplasia with congenital joint dislocations  
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Spondyloepiphyseal Dysplasia with Punctate Corneal Dystrophy 
Spondyloepiphyseal Dysplasia, Kimberley Type  
Spondyloepiphyseal Dysplasia, Maroteaux Type  
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE  
Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech 
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness 
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type  
Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism 
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy  
Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta 
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type  
Spondylometaphyseal Dysplasia, Algerian Type 
Spondylometaphyseal Dysplasia, Axial  
Spondylometaphyseal Dysplasia, East-African Type 
Spondylometaphyseal Dysplasia, Kozlowski Type  
Spondylometaphyseal Dysplasia, Sedaghatian Type  
Spondylometaphyseal Dysplasia, Type A4 
Spondylometaphyseal Dysplasia, X-Linked 
Spondyloocular Syndrome, Autosomal Recessive  
Spondyloperipheral Dysplasia  
Spondylospinal Thoracic Dysostosis 
STANKIEWICZ-ISIDOR SYNDROME  
Steel Syndrome  
stereotypic movement disorder +   
Sternal Cleft 
Stuve-Wiedemann Syndrome  
synostosis +   
T-cell immunodeficiency, congenital alopecia, and nail dystrophy  
T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations  
Teebi Naguib Al Awadi syndrome 
Ter Haar Syndrome  
Terminal Osseous Dysplasia and Pigmentary Defects  
thanatophoric dysplasia +   
Thoracolaryngopelvic Dysplasia 
Thrombocytopenic Purpura +   
tic disorder +   
Tracheobronchomalacia +   
Tracheobronchopathia Osteoplastica 
Transfusion Reaction  
Transplant Rejection +   
Tricho-Dento-Osseous Syndrome 1 
Trichorhinophalangeal Syndrome +   
Trichoscyphodysplasia 
Trochlea of the Humerus, Aplasia of 
Ulna Metaphyseal Dysplasia Syndrome 
Upington Disease 
Ventriculomegaly  
Verloes Van Maldergem Marneffe Syndrome 
visceral leishmaniasis  
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Weissenbacher-Zweymuller syndrome +   
Whyte Murphy Syndrome 
Widow's Peak Syndrome 
Wolcott-Rallison syndrome  
Worth's syndrome  
X-linked severe combined immunodeficiency  
yaws +  
ZTTK Syndrome  

Synonyms
Exact Synonyms: ISDNA
Primary IDs: OMIM:617425 ;   RDO:9001706

paths to the root