loading...| Preferred Name |
Scheie Syndrome |
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| Synonyms |
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| Definitions |
An autosomal recessive disorder representing the milder form of mucopolysaccharidosis type I. It is characterized by deficiency of the enzyme alpha-L-iduronidase. Signs and symptoms include broad mouth with full lips, cloudy cornea which may lead to blindness, stiff joints, and hirsutism. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C61265 |
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| code |
C61265 |
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| Contributing_Source |
Cellosaurus |
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| definition |
An autosomal recessive disorder representing the milder form of mucopolysaccharidosis type I. It is characterized by deficiency of the enzyme alpha-L-iduronidase. Signs and symptoms include broad mouth with full lips, cloudy cornea which may lead to blindness, stiff joints, and hirsutism. |
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| in_subset | ||
| label |
Scheie Syndrome |
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| Legacy Concept Name |
Scheie_Syndrome |
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| Preferred_Name |
Scheie Syndrome |
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| prefixIRI |
NCIT:C61265 |
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| prefLabel |
Scheie Syndrome |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0026708 |
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| subClassOf |