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About:
Lamellar ichthyosis AND trichorrhexis invaginata syndrome
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Attributes
Values
label
lamellar ichthyosis and trichorrhexis invaginata syndrome
schema:identifier
c0265962
ISA
Hereditary Diseases
Skin Diseases, Genetic
Congenital Disorders
skin disorder
Congenital ichthyosis
Ichthyoses
Hair dystrophy
Trichorrhexis invaginata
PART_OF
C0030705
Family
Human
Child
Adult
Persons
Boys
sibling
AFFECTS
Mutation
is
LOCATION_OF
of
C0030705
Family
member
Child
Adult
Girls
Brothers
Boys
sibling
Sister
is
COEXISTS_WITH
of
Inflammation
Asthma
Atopic
Dermatitis, Atopic
Eosinophilia
Skin Diseases, Genetic
Atopy
Deficiency, immune
Eosinophilic esophagitis
Dermatitis, Exfoliative
Congenital ichthyosis
Immune defect
Condyloma
Ichthyosiform Erythroderma, Congenital
Hair shaft abnormal NOS
is
DIAGNOSES
of
Biopsy of skin procedure
Biopsy
Immunohistochemistry
Erythema
Trichorrhexis invaginata
is
CAUSES
of
Mutation
Serine Protease
Kininogenase
SPINK5
is
TREATS
of
Therapeutic procedure
infliximab
Pharmaceutical Preparations
Ultraviolet B therapy
Pimecrolimus
is
AFFECTS
of
SPINK5 gene|SPINK5
is
NEG_TREATS
of
inhibitors
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