Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/107600
http://purl.bioontology.org/ontology/OMIM/107600
|
|---|---|
| Preferred Name | APLASIA CUTIS CONGENITA, NONSYNDROMIC |
| Synonyms |
CONGENITAL DEFECT OF SKULL AND SCALP
ACC
SCALP DEFECT, CONGENITAL
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CONGENITAL DEFECT OF SKULL AND SCALP
ACC
SCALP DEFECT, CONGENITAL
|
|---|---|
| prefLabel | APLASIA CUTIS CONGENITA, NONSYNDROMIC
|
| Gene Symbol |
ACC
KIAA0187
BMS1
BMS1L
|
| Scope Statement | One 5-generation ACC family with mutation in BMS1 has been described (last curated August 2014) [MISCELLANEOUS]
Caused by mutation in the BMS1 ribosome biogenesis factor gene (BMS1, 611448.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation | |
| tui | T019
|
| Gene Locus | 10q11.21
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 107600
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C2931779
C0282160
|
| Moved from | 207700
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |