Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Ontology Browser
Term:
hereditary hypophosphatemic rickets with hypercalciuria (DOID:0050947)
Annotations: Rat: (3) Mouse: (3) Human: (4) Chinchilla: (3) Bonobo: (3) Dog: (3) Squirrel: (3) Pig: (3) Naked Mole-rat: (3) Green Monkey: (3)
Parent Terms Term With Siblings Child Terms
acrocallosal syndrome +   
AMED syndrome  
autosomal dominant hypocalcemia 1 +   
autosomal dominant hypophosphatemic rickets  
autosomal recessive hypophosphatemic rickets +   
autosomal recessive nonsyndromic deafness 1A  
autosomal-mitochondrial sensorineural deafness  
craniosynostosis 7  
dyskeratosis congenita +   
facioscapulohumeral muscular dystrophy 2  
facioscapulohumeral muscular dystrophy 3  
facioscapulohumeral muscular dystrophy 4  
hereditary coproporphyria +   
hereditary hypophosphatemic rickets with hypercalciuria  
A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain. (DO)
Hypercalciuria, Absorptive, 1 
Hypercalciuria, Absorptive, 2  
Hypercalciuria, Childhood Idiopathic  
iminoglycinuria  
Joubert syndrome 15  
Joubert syndrome 9  
long QT syndrome 1  
long QT syndrome 2  
long QT syndrome 3  
long QT syndrome 5  
long QT syndrome 6  
long QT syndrome 9  
low molecular weight proteinuria with hypercalciuric nephrocalcinosis  
methylmalonic aciduria and homocystinuria type cblC  
ocular albinism with sensorineural deafness  
oculocutaneous albinism type IB  
Parkinson's disease 6  
primary pulmonary hypertension +   
proteasome-associated autoinflammatory syndrome 1  
proteosome-associated autoinflammatory syndrome 3  
retinitis pigmentosa 7  
short-rib thoracic dysplasia 7 with or without polydactyly  
spinocerebellar ataxia type 17  
Usher syndrome type 1D +   
Usher syndrome type 2C  
Waardenburg syndrome type 2A  
X-linked dominant hypophosphatemic rickets  
X-linked recessive hypophosphatemic rickets