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loading...| Preferred Name | Harlequin_Ichthyosis | |
| Synonyms |
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| ID |
http://www.owl-ontologies.com/Ontology1358660052.owl#Harlequin_Ichthyosis |
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| ID |
C98934 |
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| NCI_Definition |
A very rare and usually lethal autosomal recessive inherited disorder of the skin caused by mutations in the ABCA12 gene. It is characterized by the presence of hard and thick skin. There are diamond-like plates formed in the skin which are separated by fissures. |
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| NCI_PT |
Harlequin Ichthyosis |
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| NICHD_Definition |
_ |
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| prefixIRI |
Harlequin_Ichthyosis |
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| prefLabel |
Harlequin_Ichthyosis |
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| Subset_Association1 |
NICHD Pediatric Terminology |
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| Subset_Association2 |
Neonatal Research Network Terminology |
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| SYN | ||
| subClassOf |
http://www.owl-ontologies.com/Ontology1358660052.owl#Congenital_Abnormality_of_the_Skin |
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