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Ontology Browser

Term:
Autosomal Dominant Osteopetrosis 3 (DOID:9009253)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (0) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
osteopetrosis +     
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema  
autosomal dominant osteopetrosis 1  
autosomal dominant osteopetrosis 2  
Autosomal Dominant Osteopetrosis 3  
A disease characterized by phenotypic variability: some patients have typical features of osteopetrosis, including fractures after minor trauma, early tooth loss, anemia, hepatosplenomegaly, and a generalized increase in bone mineral density, whereas other patients exhibit localized osteosclerosis and generalized osteopenia.
autosomal recessive osteopetrosis 1  
autosomal recessive osteopetrosis 2  
autosomal recessive osteopetrosis 3  
autosomal recessive osteopetrosis 4  
autosomal recessive osteopetrosis 5  
autosomal recessive osteopetrosis 6  
autosomal recessive osteopetrosis 7  
autosomal recessive osteopetrosis 8  
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
Osteopetrosis and Infantile Neuroaxonal Dystrophy 
Osteopetrosis Lethal 
Roy Maroteaux Kremp Syndrome 
Whyte Murphy Fallon Sly syndrome 
Worth's syndrome  

Synonyms
Exact Synonyms: OPTA3 ;   OSTEOPETROSIS, AUTOSOMAL DOMINANT 3
Primary IDs: OMIM:618107
Definition Sources: OMIM:618107

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.