Autosomal Recessive Congenital Ichthyosis 4B
Disease ID: disease_node_19979
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| Dbxref | ICD10CM:Q80.4, MIM:242500, ORDO:457 |
|---|---|
| Subclassof | DOID_0060655 |
| Data Source | DOID |
| Synonyms | ARCI4B, harlequin ichthyosis, harlequin type ichthyosis congenita, harlequin type ichthyosis fetalis |
| Doid Label | autosomal recessive congenital ichthyosis 4B |
| Doid Description | An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears, constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35. |
| Disease Node Id | disease_node_19979 |
| Doid Id | DOID_0060713 |
| Disease Has Basis In | HP_0001197 |
| Label | Autosomal Recessive Congenital Ichthyosis 4B |
- Outgoing r'ship
SUBCLASS_OFto/from Ichthyosis, Lamellar(ID:disease_node_9185) (Disease)