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Metadata
ID DOID:0111821
Name ichthyosis follicularis-alopecia-photophobia syndrome 1
Definition A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in MBTPS2 on chromosome Xp22.12.
https://www.ncbi.nlm.nih.gov/pubmed/22105905, https://www.ncbi.nlm.nih.gov/pubmed/4037843
Xrefs

GARD:2952

MESH:C536085

OMIM:308205

ORDO:2273

UMLS_CUI:C1839988

Synonyms

ichthyosis follicularis-atrichia-photophobia syndrome 1 [EXACT]

IFAP syndrome 1 [EXACT]

IFAP syndrome 1 with or without BRESHECK syndrome [EXACT]

Parent Relationships

is_a syndrome

is_a X-linked recessive disease

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