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loading...| Preferred Name |
Meckel-Gruber Syndrome |
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| Synonyms |
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| Definitions |
A rare, lethal, autosomal recessive inherited syndrome characterized by pulmonary hypoplasia, central nervous system malformations, and hepatic malformations. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C98978 |
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| code |
C98978 |
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| Contributing_Source |
Cellosaurus NICHD |
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| definition |
A rare, lethal, autosomal recessive inherited syndrome characterized by pulmonary hypoplasia, central nervous system malformations, and hepatic malformations. |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 |
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| label |
Meckel-Gruber Syndrome |
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| Preferred_Name |
Meckel-Gruber Syndrome |
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| prefixIRI |
NCIT:C98978 |
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| prefLabel |
Meckel-Gruber Syndrome |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0265215 |
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| subClassOf |
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