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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/616069
http://purl.bioontology.org/ontology/OMIM/616069
|
|---|---|
| Preferred Name | NEONATAL NEPHROCUTANEOUS INFLAMMATORY SYNDROME |
| Synonyms |
NNCIS
NISBD2, FORMERLY
INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FORMERLY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
NNCIS
NISBD2, FORMERLY
INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FORMERLY
|
|---|---|
| prefLabel | NEONATAL NEPHROCUTANEOUS INFLAMMATORY SYNDROME
|
| Gene Symbol |
EGFR
NNCIS
|
| Scope Statement | Seen predominantly in individuals of Roma origin who are homozygous for a founder mutation (G428D, 131550.0007) [MISCELLANEOUS]
Caused by mutation in the epidermal growth factor gene (EGFR, 131550.0007) [MOLECULAR BASIS]
Most affected individuals die within the first 6 months of life [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 7p12.3-p12.1
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 616069
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4015130
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |