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Diseases

Bartter Syndrome, Type 4A

bartter syndrome, type 4a

Entity Type
Diseases
Relation Groups
1
Relation Preview
3

Basic Information

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Core Information

Disease Name
Bartter Syndrome, Type 4A
Standard Disease Name
bartter syndrome, type 4a
MeSH Tree
No data
ICD-10
No data

Identifiers

DO ID
No data
MeSH ID
C536819
OMIM ID
137550
UMLS ID
C1842036
HPO ID
No data

Description and Extensions

Description
NCI2016_02D:A rare melanocytic lesion occurring at birth, comprising at least 5% of the body surface area. It usually presents as a dark brown to black hairy lesion. Morphologically, it is characterized by the presence of a compound or intradermal nevus. There is an increased risk of malignant transformation to melanoma, rhabdomyosarcoma, and poorly differentiated malignant tumors.|HPO2016_07_04:The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child. [HPO:probinson, pmid:21139903]
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