autosomal recessive congenital ichthyosis 1
Information
- Disease name
- autosomal recessive congenital ichthyosis 1
- Disease ID
- DOID:0060656
- Description
- "An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/7824952]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0060655
- Cross Reference ID (Disease Ontology)
- GARD:3170
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q80.2
- Cross Reference ID (Disease Ontology)
- MIM:242300
- Cross Reference ID (Disease Ontology)
- ORDO:100976
- Cross Reference ID (Disease Ontology)
- ORDO:281122
- Cross Reference ID (Disease Ontology)
- ORDO:313
- Exact Synonym (Disease Ontology)
- ARCI1
- Disase Synonym (Disease Ontology)
- bathing suit ichthyosis
- MedGen concept unique identifier (MedGen Concept name)
- C3536797
- MedGen unique identifier (MedGen Concept name)
- 760723