loading...| Preferred Name |
Osteoporosis Pseudoglioma Syndrome |
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| Synonyms |
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| Definitions |
An autosomal recessive condition caused by homozygous or compound heterozygous inactivating mutation(s) in the gene LRP5, encoding low-density lipoprotein receptor-related protein 5. This condition is characterized by severe juvenile-onset osteoporosis and congenital or juvenile-onset blindness due to a vascularized retinal mass that resembles a glioma. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C130998 |
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| ALT_DEFINITION |
An autosomal recessive condition caused by homozygous or compound heterozygous inactivating mutation(s) in the gene LRP5, encoding low-density lipoprotein receptor-related protein 5. This condition is characterized by severe juvenile-onset osteoporosis and congenital or juvenile-onset blindness due to a vascularized retinal mass that resembles a glioma. |
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| code |
C130998 |
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| Contributing_Source |
NICHD |
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| definition |
An autosomal recessive condition caused by homozygous or compound heterozygous inactivating mutation(s) in the gene LRP5, encoding low-density lipoprotein receptor-related protein 5. This condition is characterized by severe juvenile-onset osteoporosis and congenital or juvenile-onset blindness due to a vascularized retinal mass that resembles a glioma. |
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| in_subset | ||
| label |
Osteoporosis Pseudoglioma Syndrome |
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| Preferred_Name |
Osteoporosis Pseudoglioma Syndrome |
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| prefixIRI |
NCIT:C130998 |
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| prefLabel |
Osteoporosis Pseudoglioma Syndrome |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0432252 |
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| subClassOf |