Send us a Message



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

Ontology Browser

Term:
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension (DOID:9002415)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0)
Parent Terms Term With Siblings Child Terms
hydrocephalus +     
hypertension +     
thrombocytopenia +     
Aase Smith Syndrome 
acheiropody  
achondrogenesis +   
achondroplasia +   
Acquired Pure Megakaryocytic Aplasia 
acquired thrombocytopenia +   
acrocallosal syndrome +   
acrocapitofemoral dysplasia  
acrodysostosis +   
Acrodysplasia Scoliosis 
Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia 
acromesomelic dysplasia +   
acromicric dysplasia +   
Acropectorovertebral Dysplasia 
Adams Nance Syndrome 
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
agenesis of corpus callosum, cardiac, ocular, and genital syndrome  
agenesis of the corpus callosum with peripheral neuropathy  
Aicardi syndrome 
Akaba Hayasaka Syndrome 
asphyxiating thoracic dystrophy +   
atelosteogenesis +   
Auriculoosteodysplasia 
autosomal dominant macrothrombocytopenia TUBB1-related  
Baker Vinters Syndrome 
Beemer Ertbruggen Syndrome 
Ben Ari Shuper Mimouni Syndrome 
Beukes hip dysplasia  
Blount's disease 
Boomerang dysplasia  
Bor-Duane Hydrocephalus Contiguous Gene Syndrome 
brachyolmia +   
Caffey disease +   
Calloso-Genital Dysplasia 
calvarial doughnut lesions with bone fragility  
CAMFAK Syndrome 
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  
chondrodysplasia Blomstrand type  
Chondrodysplasia Calcificans Metaphysealis 
chondrodysplasia punctata +   
chondrodysplasia with joint dislocations gPAPP type  
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia  
chondrodysplasia-pseudohermaphroditism syndrome  
Chudley-Mccullough syndrome  
Clark-Baraitser syndrome  
cleidocranial dysplasia +   
Cleidorhizomelic Syndrome 
Cloverleaf Skull Micromelia Thoracic Dysplasia 
CODAS syndrome  
Cole-Carpenter syndrome +   
Collagenopathy, Type 2 Alpha 1 
Coloboma of Alar-Nasal Cartilages with Telecanthus 
combined oxidative phosphorylation deficiency 2  
communicating hydrocephalus +   
congenital amegakaryocytic thrombocytopenia  
congenital disorder of glycosylation Ix  
Congenital Hydrocephalus 2, with or without Brain or Eye Anomalies  
Congenital Hydrocephalus 3, with Brain Anomalies  
Congenital Micromelic Dysplasia with Dislocation of Radius +   
corpus callosum agenesis-abnormal genitalia syndrome  
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome  
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA  
Curatolo Cilio Pessagno Syndrome 
Czech Dysplasia, Metatarsal Type  
Daentl Towsend Siegel Syndrome 
Daish Hardman Lamont Syndrome 
Dandy-Walker syndrome +   
De Hauwere syndrome 
Desbuquois dysplasia +   
diaphyseal medullary stenosis with malignant fibrous histiocytoma  
Diastolic Hypertension, Resistance to  
diastrophic dysplasia +   
DK Phocomelia Syndrome 
Donnai-Barrow syndrome  
Duker Weiss Siber syndrome 
Dyschondrosteosis and Nephritis 
Edinburgh Malformation Syndrome 
Ehlers-Danlos syndrome spondylodysplastic type 3  
Eiken syndrome  
Ellis-Van Creveld syndrome +   
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
Epiphyseal Dysplasia, Baumann Type 
essential hypertension +   
Evans' syndrome +   
Fairbank Disease 
Familial Osteodysplasia, Anderson Type 
Faye-Petersen Ward Carey Syndrome 
FG syndrome +   
fibrochondrogenesis +   
Fibrous Dysplasia of Bone +   
Forsythe-Wakeling Syndrome 
Fraser Jequier Chen Syndrome 
Frontootopalatodigital Osteodysplasia 
Game Friedman Paradice Syndrome 
Gardner Morrisson Abbot Syndrome 
Ghosal hematodiaphyseal syndrome  
Giant Platelet Syndrome with Thrombocytopenia  
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Grange Syndrome  
Greenberg dysplasia  
hereditary spastic paraplegia 11  
holoprosencephaly +   
Hydrocephalus with Cerebellar Agenesis 
Hydrocephalus, Autosomal Dominant 
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 
Hydrocephalus, Skeletal Anomalies, and Mental Disturbance 
hydrolethalus syndrome +   
Hyperostosis Frontalis Interna +  
hypertension and brachydactyly syndrome  
Hypertension Resistant to Conventional Therapy  
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy  
hypertensive retinopathy  
hypertrichotic osteochondrodysplasia Cantu type  
hypochondrogenesis  
hypochondroplasia  
Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 
Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial  
hypoparathyroidism-retardation-dysmorphism syndrome  
Idiopathic Intracranial Hypertension with Papilledema 
IMAGe syndrome  
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities  
Iris Dysplasia Hypertelorism Deafness 
IVIC syndrome  
Jacobsen Syndrome +   
Jequier Kozlowski Skeletal Dysplasia 
Kallikrein Hypertension 
Kasabach-Merritt Syndrome +   
Kashin-Beck Disease  
KINSSHIP SYNDROME  
Kniest dysplasia  
Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis 
Kozlowski Brown Hardwick Syndrome 
Kozlowski Ouvrier Syndrome 
Kozlowski Tsuruta Taki Syndrome 
Langer Mesomelic Dysplasia  
Laplane Fontaine Lagardere Syndrome 
Larsen Syndromes +   
Leri-Weill dyschondrosteosis  
Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density 
Lissencephaly and Agenesis of Corpus Callosum  
Lowry Wood Syndrome  
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
Madelung Deformity 
Maffucci syndrome 
malignant hypertension +   
Marshall syndrome +   
Masked Hypertension  
Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps 
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome +   
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type 
Mesomelic Dwarfism Reinhardt Pfeiffer Type 
Mesomelic Dysplasia, Camera Type 
Mesomelic Dysplasia, Savarirayan Type 
Metaphyseal Anadysplasia +   
Metaphyseal Chondrodysplasia +   
metaphyseal dysplasia +   
Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome  
Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth 
Metatropic Dwarfism, Type II 
Microcephalic Osteodysplastic Primordial Dwarfism +   
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
Microcephaly-Micromelia Syndrome  
Micromelic Dwarfism Fryns Type 
midface dysplasia 
Miura type epiphyseal chondrodysplasia  
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 
multiple epiphyseal dysplasia +   
MYH-9 related disease +   
Neonatal Alloimmune Thrombocytopenia  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM 
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM  
Nievergelt Syndrome 
normal pressure hydrocephalus +   
obstructive hydrocephalus  
ocular hypertension +   
Odontochondrodysplasia 2 with Hearing Loss and Diabetes  
Ollier disease  
omodysplasia +   
Opsismodysplasia  
Osebold Skeletal Dysplasia Osteolysis Syndrome 
Osteoarthritis with Mild Chondrodysplasia  
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE  
Osteochondroma +   
osteogenesis imperfecta +   
osteoglophonic dysplasia  
osteosclerosis +   
otopalatodigital syndrome spectrum disorder +   
otospondylomegaepiphyseal dysplasia, autosomal recessive  
Palmer Pagon Syndrome 
parastremmatic dwarfism  
Partial Agenesis of Corpus Callosum +   
Pelvis-Shoulder Dysplasia 
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
platelet-type bleeding disorder 15  
platelet-type bleeding disorder 17  
platelet-type bleeding disorder 9  
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
Polydysspondyly 
Posthemorrhagic Hydrocephalus  
Precocious Osteodysplasty of Danks, Mayne, and Kozlowski 
Pregnancy-Induced Hypertension +   
progressive pseudorheumatoid arthropathy of childhood  
pseudoachondroplasia  
Pubic Bone Dysplasia 
pulmonary hypertension +   
pycnodysostosis  
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia +   
Radius Absent Anogenital Anomalies 
Recurrent Spontaneous Hypothermia with Hypoplasia of the Corpus Callosum 
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 
Roifman Syndrome  
Saal Bulas Syndrome 
Sakoda Complex 
SAPHO syndrome  
Saul-Wilson syndrome  
Schaefer Stein Oshman Syndrome 
schneckenbecken dysplasia  
Schwartz Cohen-Addad Lambert Syndrome 
Schwartz-Jampel syndrome 1  
secondary hypertension +   
Shapiro Syndrome 
Short Stature Syndrome, Brussels Type 
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis  
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
Silverman-Handmaker type dyssegmental dysplasia  
Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 
Sketetal Dysplasia Coarse Facies Mental Retardation  
Slipped Capital Femoral Epiphyses 
Spastic Paraplegia and Evans Syndrome 
Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly  
Spinal Dysplasia, Anhalt Type 
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia  
Spondyloenchondrodysplasia  
spondyloepimetaphyseal dysplasia +   
spondyloepiphyseal dysplasia +   
Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness 
spondylometaphyseal dysplasia +   
Spondyloocular Syndrome, Autosomal Recessive  
spondyloperipheral dysplasia  
Spondylospinal Thoracic Dysostosis 
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 
Stress-Induced Hypertension  
Stuve-Wiedemann Syndrome  
Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria 
Takenouchi-Kosaki Syndrome  
Teebi Naguib Al Awadi syndrome 
Temtamy syndrome  
terminal osseous dysplasia  
Tetraphocomelia-Thrombocytopenia Syndrome 
thanatophoric dysplasia +   
Thoracic Dysplasia-Hydrocephalus Syndrome 
Thoracolaryngopelvic Dysplasia 
Thrombocytopenia 1  
Thrombocytopenia 2  
Thrombocytopenia 3  
Thrombocytopenia 4  
Thrombocytopenia 5  
Thrombocytopenia 6  
Thrombocytopenia 7  
Thrombocytopenia Absent Ulnar Syndrome 
thrombocytopenia due to platelet alloimmunization +   
Thrombocytopenia Robin Sequence 
Thrombocytopenia with Elevated Serum Iga and Renal Disease 
Thrombocytopenia, Anemia, and Myelofibrosis  
Thrombocytopenia, Cyclic 
thrombocytopenia-absent radius syndrome  
Thrombotic Microangiopathies +   
Tracheobronchopathia Osteoplastica 
transient neonatal thrombocytopenia 
Trichorhinophalangeal Syndrome +   
Trichoscyphodysplasia 
Ulna Metaphyseal Dysplasia Syndrome 
Upington Disease 
ventriculomegaly - cystic kidney disease  
Ventriculomegaly with Defects of the Radius and Kidney 
Verloes Van Maldergem Marneffe Syndrome 
Vici syndrome  
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Waaler Aarskog Syndrome 
Weissenbacher-Zweymuller syndrome +   
White Coat Hypertension 
Wolcott-Rallison syndrome  
X-Linked Hydrocephalus +   
X-linked thrombocytopenia with beta-thalassemia  
X-Linked Thrombocytopenia, Intermittent  
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia  
X-linked VACTERL association  
Yim Ebbin Syndrome 

Synonyms
Primary IDs: MESH:C563478
Alternate IDs: OMIM:166990 ;   RDO:0012723

paths to the root