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Term:
X-linked ichthyosis (DOID:1700)
Annotations: Rat: (3) Mouse: (2) Human: (8) Chinchilla: (3) Bonobo: (3) Dog: (3) Squirrel: (3)
Parent Terms Term With Siblings Child Terms
17-Hydroxysteroid Dehydrogenase Deficiency +   
Aarskog syndrome +   
Absence of Fingerprints  
Acquired Ichthyosis 
Actinic Prurigo  
adrenoleukodystrophy +   
Aland Island eye disease  
Albinism +   
Allan-Herndon-Dudley syndrome  
Annular Erythema 
Antley-Bixler syndrome +   
apparent mineralocorticoid excess syndrome  
arterial tortuosity syndrome  
atopic dermatitis +   
Atrophia Maculosa Varioliformis Cutis, Familial 
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS  
autosomal dominant keratitis-ichthyosis-deafness syndrome  
autosomal recessive congenital ichthyosis +   
Barth syndrome +   
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 
Bloch-Sulzberger syndrome +   
blue cone monochromacy  
Borjeson-Forssman-Lehmann syndrome  
Brooks-Wisniewski-Brown syndrome 
Brunner syndrome  
Bruton-type agammaglobulinemia  
bullous congenital ichthyosiform erythroderma  
Buschke-Ollendorff Syndrome  
Camptodactyly-Ichthyosis Syndrome 
Cataract and Congenital Ichthyosis 
CD40 ligand deficiency +   
Charcot-Marie-Tooth disease X-linked recessive 2 
Charcot-Marie-Tooth disease X-linked recessive 3 
Charcot-Marie-Tooth disease X-linked recessive 4  
Charcot-Marie-Tooth disease X-linked recessive 5  
Collagenosis, Familial Reactive Perforating 
congenital adrenal hyperplasia +   
congenital bile acid synthesis defect +   
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
Congenital Ichthyosis with Trichothiodystrophy +   
congenital stationary night blindness 1A  
congenital stationary night blindness 2A  
cortisone reductase deficiency +   
Cutaneous Bullous Amyloidosis 
cutaneous porphyria  
cutis laxa +   
Deal Barratt Dillon Syndrome 
Dent disease +   
Dowling-Degos disease +   
Duchenne muscular dystrophy +   
Dykes Markes Harper Syndrome 
dyschromatosis universalis hereditaria +   
dyskeratosis congenita +   
ectodermal dysplasia +   
Ehlers-Danlos syndrome +   
epidermolysis bullosa +   
erythrokeratodermia variabilis +   
Erythrokeratodermia with Ataxia  
Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like  
factor VIII deficiency +   
Familial Hypercholanemia  
FG syndrome  
Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts 
Gerodermia Osteodysplastica  
Glucocorticoid Deficiency 1  
glycogen storage disease IXa  
glycogen storage disease IXd  
Grover's Disease 
Hailey-Hailey disease  
hemophilia B  
Hepatic Porphyrias +   
Hereditary Autoinflammatory Diseases +   
hereditary mucosal leukokeratosis  
hereditary sensory neuropathy X-linked 
hereditary spastic paraplegia 16 
hereditary spastic paraplegia 2  
hereditary spastic paraplegia 34 
HID Syndrome  
Histiocytic Dermatoarthritis 
Hyaluronan Metabolism, Defect in 
Ichthyosis Cheek Eyebrow Syndrome 
Ichthyosis Exfoliativa  
Ichthyosis Follicularis Atrichia Photophobia Syndrome  
Ichthyosis Hystrix Gravior 
Ichthyosis Hystrix, Curth Macklin Type  
Ichthyosis Prematurity Syndrome  
Ichthyosis Tapered Fingers Midline Groove Up 
ichthyosis vulgaris +   
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 
Ichthyosis, Spastic Quadriplegia, and Mental Retardation  
Ichthyosis, Split Hairs, and Amino Aciduria 
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 
IGSF1 deficiency syndrome  
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome  
isolated growth hormone deficiency type III  
Isolated Osteopoikilosis 
Jagell Holmgren Hofer Syndrome 
Joubert syndrome 10  
Juvenile Spring Eruption of Ears 
Kennedy's disease  
Keratolytic Winter Erythema  
keratosis follicularis +   
Keratosis Follicularis Spinulosa Decalvans, X-Linked  
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma  
Koone Rizzo Elias Syndrome 
Lathosterolosis  
Lesch-Nyhan syndrome +   
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
lipoid proteinosis  
Lyngstadaas Syndrome 
MASA syndrome  
MEHMO syndrome  
MEND SYNDROME  
monilethrix +   
Muir-Torre syndrome  
multiple congenital anomalies-hypotonia-seizures syndrome 2  
Multiple Noduli Cutanei with Urinary Tract Abnormalities 
Neu-Laxova syndrome 1  
Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities 
Nisch syndrome  
Norrie disease  
oculocerebrorenal syndrome +   
Oculotrichodysplasia 
Ogden syndrome  
orofaciodigital syndrome IX  
Osteosclerosis with Ichthyosis and Fractures 
palmoplantar keratosis +   
Parana Hard Skin Syndrome 
Partington syndrome  
Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 
peeling skin syndrome +   
Pelizaeus-Merzbacher disease +   
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial 
Plasminogen Deficiency, Type I  
Poikiloderma, Hereditary Sclerosing +   
porokeratosis +   
Prieto syndrome 
primary cutaneous amyloidosis  
Primary Localized Cutaneous Amyloidosis, 2  
Primary Localized Cutaneous Amyloidosis, 3  
Progressive Osseous Heteroplasia  
Progressive Vitiligo with Mental Retardation and Urethral Duplication 
Prolidase Deficiency  
Pseudovaginal Perineoscrotal Hypospadias  
pseudoxanthoma elasticum +   
Renpenning syndrome  
Reticulate Pigmentary Disorder, with Systemic Manifestations  
Rothmund-Thomson syndrome +   
Rud Syndrome 
Ruzicka Goerz Anton syndrome 
Sammartino De Crecchio Syndrome 
sideroblastic anemia 1  
Simpson-Golabi-Behmel syndrome type 1  
Simpson-Golabi-Behmel syndrome type 2  
Sjogren-Larsson syndrome +   
Skin Fragility-Woolly Hair Syndrome  
Smith-Lemli-Opitz syndrome +   
spondyloepiphyseal dysplasia tarda +   
Stiff Skin Syndrome  
Storm Syndrome 
Stormorken syndrome  
syndromic X-linked intellectual disability 17 
syndromic X-linked intellectual disability 5  
syndromic X-linked intellectual disability Claes-Jensen type  
syndromic X-linked intellectual disability Siderius type  
syndromic X-linked intellectual disability Snyder type  
Systemic Hyalinosis  
Trichodysplasia-Xeroderma 
Trichothiodystrophy Syndromes +   
Vohwinkel Syndrome, Variant Form  
Wilson-Turner syndrome  
Wiskott-Aldrich syndrome +   
X-linked adrenal hypoplasia congenita  
X-linked chondrodysplasia punctata 1  
X-linked chronic granulomatous disease  
X-linked cone-rod dystrophy 3  
X-linked dyskeratosis congenita +   
X-linked dystonia-parkinsonism  
X-linked Emery-Dreifuss muscular dystrophy 1  
X-linked Emery-Dreifuss muscular dystrophy 6  
X-linked ichthyosis +   
Chronic form of ichthyosis that is inherited as a sex-linked recessive trait carried on the X-chromosome and transmitted to the male offspring. It is characterized by severe scaling, especially on the extremities, and is associated with steroid sulfatase deficiency.
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia  
X-linked juvenile retinoschisis 1  
X-linked lymphoproliferative syndrome 1  
X-linked lymphoproliferative syndrome 2  
X-linked myopathy with excessive autophagy  
X-linked recessive hypophosphatemic rickets  
X-Linked Recessive Nephrolithiasis with Renal Failure  
X-linked severe combined immunodeficiency  
X-linked sideroblastic anemia with ataxia  
X-linked spermatogenic failure 2  
xeroderma of eyelid 
xeroderma pigmentosum +   
Zunich Neuroectodermal Syndrome  

Synonyms
Exact Synonyms: Ichthyoses, X-Linked ;   Ichthyosis, Sex Linked ;   Placental Steroid Sulfatase Deficiency ;   STS deficiency ;   Steroid Sulfatase Deficiencies ;   Steroid Sulfatase Deficiency ;   X-linked ichthyosis with steryl-sulphatase deficiency ;   X-linked placental steryl-sulphatase deficiency ;   X-linked recessive ichthyosis ;   XLI ;   sex-linked ichthyoses
Narrow Synonyms: SSDD ICHTHYOSIS, X-LINKED, COMPLICATED ;   STEROID SULFATASE DEFICIENCY DISEASE
Primary IDs: MESH:D016114
Alternate IDs: OMIM:308100 ;   RDO:0003197
Xrefs: GARD:7904
Definition Sources: MESH:D016114, https://rarediseases.info.nih.gov/diseases/7904/disease, https://www.omim.org/entry/308100

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