Aplasia Cutis Congenita, Nonsyndromic (ACC)

Alias:
Aplasia Cutis Congenita
Acces Syndrome
Acc
Aplasia Cutis Congenita with Ectrodactyly Skeletal Syndrome
Congenital Defect of Skull and Scalp
Nonsyndromic Aplasia Cutis Congenita
Acces
Congenital Defect of the Skull and Scalp
Aplasia Cutis Congenita, Non-Syndromic
Congenital Absence of Skin on Scalp
Congenital Ulcer of the Newborn
Scalp Defect, Congenital
Scalp Defect Congenital
Congenital Scalp Defect
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Aplasia Cutis Congenita, Nonsyndromic, also known as aplasia cutis congenita, is related to aplasia cutis congenita and oculoectodermal syndrome. An important gene associated with Aplasia Cutis Congenita, Nonsyndromic is BMS1 (BMS1 Ribosome Biogenesis Factor). Affiliated tissues include skin and bone, and related phenotypes are failure to thrive and hip dysplasia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
--
2
8
30

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
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