Autosomal Recessive Congenital Ichthyosis 1
Disease ID: disease_node_19971
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| Dbxref | GARD:3170, ICD10CM:Q80.2, MIM:242300, ORDO:100976, ORDO:281122, ORDO:313 |
|---|---|
| Subclassof | DOID_0060655 |
| Data Source | DOID |
| Synonyms | ARCI1, bathing suit ichthyosis |
| Doid Label | autosomal recessive congenital ichthyosis 1 |
| Doid 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. |
| Disease Node Id | disease_node_19971 |
| Doid Id | DOID_0060656 |
| Disease Has Basis In | HP_0001197 |
| Label | Autosomal Recessive Congenital Ichthyosis 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Ichthyosis, Lamellar(ID:disease_node_9185) (Disease)