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55 Result(s)

ORPHA:454   (Disorder)   Acquired ichthyosis

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ORPHA:281139   (Disorder)   Annular epidermolytic ichthyosis

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ORPHA:312   (Disorder)   Autosomal dominant epidermolytic ichthyosis

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Synonym(s) : Bullous ichthyosis ; Ichthyosis hystrix Brocq type

ORPHA:281217   (Group of disorders)   Autosomal ichthyosis syndrome

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ORPHA:281097   (Group of disorders)   Autosomal recessive congenital ichthyosis

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ORPHA:100976   (Disorder)   Bathing suit ichthyosis

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ORPHA:66631   (Disorder)   CEDNIK syndrome

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Synonym(s) : Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome

ORPHA:79394   (Disorder)   Congenital ichthyosiform erythroderma

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Synonym(s) : Erythrodermic ichthyosis

ORPHA:352333   (Disorder)   Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome

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Synonym(s) : ELOVL4-related neuro ichthyosis ; Congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome

Keyword(s) : Congenital ichthyosis-mental retardation-spastic quadriplegia

ORPHA:2271   (Disorder)   Congenital ichthyosis-microcephalus-tetraplegia syndrome

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Synonym(s) : Congenital ichthyosis-microcephalus-quadriplegia syndrome

ORPHA:281190   (Disorder)   Congenital reticular ichthyosiform erythroderma

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Synonym(s) : Ichthyosis with confetti

ORPHA:91131   (Disorder)   DK1-CDG

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Synonym(s) : Hypotonia and ichthyosis due to dolichol phosphate deficiency

ORPHA:289586   (Disorder)   Exfoliative ichthyosis

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Synonym(s) : Ichthyosis exfoliativa ; Autosomal recessive exfoliative ichthyosis

ORPHA:457   (Disorder)   Harlequin ichthyosis

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Synonym(s) : Ichthyosis congenita, Harlequin type ; Autosomal congenital ichthyosis, Harlequin type

ORPHA:453   (Disorder)   IBIDS syndrome

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Synonym(s) : Trichothiodystrophy with congenital ichthyosis

ORPHA:79354   (Group of disorders)   Ichthyosis

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ORPHA:2273   (Disorder)   Ichthyosis follicularis-alopecia-photophobia syndrome

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Synonym(s) : Ichthyosis follicularis-atrichia-photophobia syndrome

ORPHA:79504   (Disorder)   Ichthyosis hystrix gravior

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Synonym(s) : Ichthyosis, Lambert type

ORPHA:79503   (Disorder)   Ichthyosis hystrix of Curth-Macklin

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Synonym(s) : Ichthyosis hystrix, Curth-Macklin type

ORPHA:2269   (Disorder)   Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome

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Keyword(s) : Ichthyosis-alopecia-eclabion-ectropion-mental retardation syndrome

ORPHA:91132   (Disorder)   Ichthyosis-hypotrichosis syndrome

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Synonym(s) : Hypotrichosis-congenital ichthyosis syndrome ; Ichthyosis-follicular atrophoderma-hypotrichosis syndrome ; Ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome

ORPHA:2278   (Disorder)   Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome

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Keyword(s) : Ichthyosis-mental retardation-dwarfism-renal impairment syndrome

ORPHA:88621   (Disorder)   Ichthyosis-prematurity syndrome

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Synonym(s) : Congenital ichthyosis type 4

ORPHA:183435   (Group of disorders)   Inherited ichthyosis

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Synonym(s) : Genetic ichthyosis

ORPHA:281085   (Group of disorders)   Inherited ichthyosis syndromic form

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ORPHA:281082   (Group of disorders)   Inherited non-syndromic ichthyosis

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ORPHA:477   (Disorder)   KID syndrome

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Synonym(s) : Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome ; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome

ORPHA:281103   (Group of disorders)   Keratinopathic ichthyosis

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ORPHA:79395   (Disorder)   Keratoderma hereditarium mutilans with ichthyosis

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Synonym(s) : Vohwinkel syndrome with ichthyosis

ORPHA:313   (Disorder)   Lamellar ichthyosis

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Keyword(s) : Classic lamellar ichthyosis ; Congenital lamellar ichthyosis

ORPHA:171851   (Disorder)   MEDNIK syndrome

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Synonym(s) : Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome ; Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome

Keyword(s) : Mental retardation-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome

ORPHA:59303   (Disorder)   Neonatal ichthyosis-sclerosing cholangitis syndrome

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Synonym(s) : Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome

ORPHA:98908   (Disorder)   Neutral lipid storage myopathy

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Synonym(s) : Neutral lipid storage disease with myopathy without ichthyosis

ORPHA:75325   (Disorder)   Osteosclerosis-ichthyosis-premature ovarian failure syndrome

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Synonym(s) : Sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome

ORPHA:263548   (Subtype of disorder)   Peeling skin syndrome type A

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Keyword(s) : Exfoliative ichthyosis

ORPHA:461   (Disorder)   Recessive X-linked ichthyosis

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Synonym(s) : X-linked ichthyosis

ORPHA:281122   (Disorder)   Self-improving collodion baby

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Synonym(s) : Self-improving congenital ichthyosis

ORPHA:455   (Disorder)   Superficial epidermolytic ichthyosis

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Synonym(s) : Ichthyosis bullosa of Siemens

ORPHA:281090   (Disorder)   Syndromic recessive X-linked ichthyosis

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Synonym(s) : Recessive X-linked ichthyosis with extracutaneous manifestations

ORPHA:281210   (Group of disorders)   X-linked ichthyosis syndrome

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ORPHA:3055   (Disorder)   X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome

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Keyword(s) : X-linked mental retardation-hypogonadism-ichthyosis-obesity-short stature syndrome