01
ASPG
No data
- Entity Type
- Diseases
- Relation Groups
- 2
- Relation Preview
- 16
Basic Information
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Core Information
- Disease Name
- Thrombocytopenia
- Standard Disease Name
- thrombocytopenia
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- C535635
- OMIM ID
- 601095
- UMLS ID
- C0795970
- HPO ID
- No data
Description and Extensions
- Description
- SNOMEDCT_US_2016_09_01:The association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive. So far, it has been described in three males (including two brothers). An autosomal recessive mode of transmission has been suggested.|JABL99:A rare syndrome of microcephaly with a long thin face and pointed chin, small mouth, malformed ears, hypotelorism, arachnodactyly, hypogenitalism and mental retardation.
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