Autosomal Recessive Congenital Ichthyosis 11
Disease ID: disease_node_19972
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| Dbxref | ICD10CM:Q80.8, MIM:602400 |
|---|---|
| Subclassof | DOID_0060655 |
| Data Source | DOID |
| Synonyms | IFAH syndrome, IHS, autosomal recessive ichthyosis with hypotrichosis, hypotrichosis-congenital ichthyosis syndrome, ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis, ichthyosis-follicular atrophoderma-hypotrichosis syndrome, ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome, ichthyosis-hypotrichosis syndrome |
| Doid Label | autosomal recessive congenital ichthyosis 11 |
| Doid Description | An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24. |
| Disease Node Id | disease_node_19972 |
| Doid Id | DOID_0060720 |
| Disease Has Basis In | HP_0001197 |
| Label | Autosomal Recessive Congenital Ichthyosis 11 |
- Outgoing r'ship
SUBCLASS_OFto/from Ichthyosis, Lamellar(ID:disease_node_9185) (Disease)