loading...| Preferred Name |
Osteopetrosis |
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| Synonyms |
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| Definitions |
A rare genetic disorder inherited in an autosomal dominant, autosomal recessive, or X-linked recessive pattern. In the majority of cases it is caused by mutations in the CLCN7, TCIRG1, or IKBKG genes. It is characterized by excessive bone formation due to the failure of osteoclasts to resorb bone. It manifests with deformities, fractures, hepatosplenomegaly, anemia, and extramedullary hematopoiesis. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C26840 |
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| ALT_DEFINITION |
A group of bone disorders caused by autosomal dominant or recessive mutation(s) in multiple genes involved in osteoclast function, including TCIRG1, CLCN7, OSTM1, SNX10, and PLEKHM1. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it can also be associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. |
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| code |
C26840 |
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| Contributing_Source |
CTRP NICHD |
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| definition |
A rare genetic disorder inherited in an autosomal dominant, autosomal recessive, or X-linked recessive pattern. In the majority of cases it is caused by mutations in the CLCN7, TCIRG1, or IKBKG genes. It is characterized by excessive bone formation due to the failure of osteoclasts to resorb bone. It manifests with deformities, fractures, hepatosplenomegaly, anemia, and extramedullary hematopoiesis. |
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| Display_Name |
Osteopetrosis |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C116977 |
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| label |
Osteopetrosis |
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| Legacy Concept Name |
Osteopetrosis |
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| Preferred_Name |
Osteopetrosis |
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| prefixIRI |
NCIT:C26840 |
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| prefLabel |
Osteopetrosis |
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| Semantic_Type |
Disease or Syndrome Congenital Abnormality |
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| UMLS_CUI |
C3808241 |
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| subClassOf |