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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
17-beta hydroxysteroid dehydrogenase 3 deficiency +   
Acquired Ichthyosis 
Actinic Prurigo  
adermatoglyphia  
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 recessive congenital ichthyosis +   
Barth syndrome +   
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 
Bloch-Sulzberger syndrome +   
blue cone monochromacy  
Borjeson-Forssman-Lehmann syndrome  
Brunner syndrome  
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  
cherubism +   
CHIME syndrome  
CK syndrome  
combined oxidative phosphorylation deficiency 6  
congenital adrenal hyperplasia +   
congenital bile acid synthesis defect +   
congenital disorder of glycosylation Icc  
congenital disorder of glycosylation Iy  
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
Congenital Ichthyosis with Trichothiodystrophy +   
congenital nongoitrous hypothyroidism 9  
congenital stationary night blindness 1A  
congenital stationary night blindness 2A  
cortisone reductase deficiency +   
Cutaneous Bullous Amyloidosis 
cutaneous porphyria  
cutis laxa +   
cytochrome P450 oxidoreductase deficiency  
Deal Barratt Dillon Syndrome 
Defect in Hyaluronan Metabolism 
Dent disease +   
developmental and epileptic encephalopathy 1  
developmental and epileptic encephalopathy 8  
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis  
Dowling-Degos disease +   
Duchenne muscular dystrophy +   
Dykes Markes Harper Syndrome 
dyschromatosis universalis hereditaria +   
dyskeratosis congenita +   
ectodermal dysplasia +   
ectodermal dysplasia 1 +   
Ehlers-Danlos syndrome +   
epidermolysis bullosa +   
epidermolytic hyperkeratosis +   
erythrokeratodermia variabilis +   
Erythrokeratodermia with Ataxia 
factor VIII deficiency +   
Familial Hypercholanemia +   
Familial Reactive Perforating Collagenosis 
Fanconi anemia complementation group B  
FG syndrome +   
frontometaphyseal dysplasia 1  
Galloway-Mowat syndrome 2  
geroderma osteodysplasticum  
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 Sclerosing Poikiloderma +   
hereditary sensory neuropathy X-linked 
hereditary spastic paraplegia 16 
hereditary spastic paraplegia 2  
hereditary spastic paraplegia 34 
HID Syndrome  
Histiocytic Dermatoarthritis 
HRPT-related hyperuricemia  
hyaline fibromatosis syndrome  
hypogonadotropic hypogonadism 1 with or without anosmia  
Ichthyosis Cheek Eyebrow Syndrome 
Ichthyosis Exfoliativa  
ichthyosis follicularis-alopecia-photophobia syndrome 1  
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 
ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES  
IFAP Syndrome +   
IGSF1 deficiency syndrome  
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome  
immunodeficiency 33  
immunodeficiency 34  
immunodeficiency 47  
immunodeficiency 50  
isolated growth hormone deficiency type III  
Isolated Osteopoikilosis 
Jagell Holmgren Hofer Syndrome 
Joubert syndrome 10  
Juvenile Spring Eruption of Ears 
Keipert syndrome  
Kennedy's disease  
Keratitis-Ichthyosis-Deafness Syndrome +   
Keratolytic Winter Erythema  
keratosis follicularis +   
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma  
keratosis pilaris atrophicans +   
Koone Rizzo Elias Syndrome 
Lamellar Ichthyosis, Autosomal Dominant Form  
Lathosterolosis  
Lesch-Nyhan syndrome +   
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
lipoid proteinosis  
Lyngstadaas Syndrome 
MASA syndrome  
megalocornea +   
MEHMO syndrome  
MEND syndrome  
methylmalonic acidemia and homocysteinemia cblX type  
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis  
monilethrix +   
Muir-Torre syndrome  
Mullegama-Klein-Martinez syndrome  
multiple congenital anomalies-hypotonia-seizures syndrome 2  
Multiple Noduli Cutanei with Urinary Tract Abnormalities 
nephrogenic syndrome of inappropriate antidiuresis  
Neu-Laxova syndrome 1  
Nisch syndrome  
non-syndromic X-linked intellectual disability 100  
non-syndromic X-linked intellectual disability 101  
non-syndromic X-linked intellectual disability 103  
non-syndromic X-linked intellectual disability 104  
non-syndromic X-linked intellectual disability 105  
non-syndromic X-linked intellectual disability 21  
non-syndromic X-linked intellectual disability 30  
non-syndromic X-linked intellectual disability 46  
non-syndromic X-linked intellectual disability 53 
non-syndromic X-linked intellectual disability 58  
non-syndromic X-linked intellectual disability 72  
non-syndromic X-linked intellectual disability 73 
non-syndromic X-linked intellectual disability 77 
non-syndromic X-linked intellectual disability 81 
non-syndromic X-linked intellectual disability 82  
non-syndromic X-linked intellectual disability 84 
non-syndromic X-linked intellectual disability 9  
non-syndromic X-linked intellectual disability 90  
non-syndromic X-linked intellectual disability 92  
non-syndromic X-linked intellectual disability 93  
non-syndromic X-linked intellectual disability 96  
non-syndromic X-linked intellectual disability 99  
non-syndromic X-linked intellectual disability ARX-related  
Norrie disease  
nuclear type mitochondrial complex I deficiency 12  
nuclear type mitochondrial complex I deficiency 30  
occipital horn syndrome  
oculocerebrorenal syndrome +   
Oculotrichodysplasia 
Opitz GBBB syndrome type I  
orofaciodigital syndrome IX  
orofaciodigital syndrome VIII 
osteogenesis imperfecta type 19  
Osteosclerosis with Ichthyosis and Fractures 
Paganini-Miozzo syndrome  
palmoplantar keratosis +   
Parana Hard Skin Syndrome 
partial androgen insensitivity syndrome  
Partington syndrome  
Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 
peeling skin syndrome +   
Pelizaeus-Merzbacher disease +   
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial 
Perioral Pigmented Follicular Atrophoderma with Milia and Epidermoid Cysts 
phosphoglycerate kinase 1 deficiency  
phosphoribosylpyrophosphate synthetase superactivity  
plasminogen deficiency type I  
poikiloderma with neutropenia  
porokeratosis +   
Prieto syndrome 
primary cutaneous amyloidosis +   
primary ovarian insufficiency 2B  
progressive osseous heteroplasia  
Progressive Vitiligo with Mental Retardation and Urethral Duplication 
prolidase deficiency  
Pseudovaginal Perineoscrotal Hypospadias  
pseudoxanthoma elasticum +   
Renpenning syndrome  
retinitis pigmentosa 23  
Ritscher-Schinzel syndrome 2  
Rothmund-Thomson syndrome +   
Rud Syndrome 
Ruzicka Goerz Anton syndrome 
Sammartino De Crecchio Syndrome 
severe congenital encephalopathy due to MECP2 mutation  
Shukla-Vernon 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 +   
stiff skin syndrome  
Storm Syndrome 
Stormorken syndrome  
syndactyly type 8  
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  
syndromic X-linked intellectual disability Turner type  
syndromic X-linked mental retardation 35  
Trichodysplasia-Xeroderma 
trichothiodystrophy +   
Van Esch-O'Driscoll syndrome  
Vohwinkel Syndrome, Variant Form  
Waisman syndrome  
Wilson-Turner syndrome  
Wiskott-Aldrich syndrome +   
X-linked Aarskog syndrome  
X-linked adrenal hypoplasia congenita  
X-linked agammaglobulinemia +   
X-linked atrophic macular degeneration  
X-linked chondrodysplasia punctata 1  
X-linked chronic granulomatous disease  
X-linked chronic idiopathic intestinal pseudo-obstruction  
X-linked cone-rod dystrophy 3  
X-linked congenital hemolytic anemia  
X-linked deafness 5  
X-linked distal spinal muscular atrophy 3  
X-linked dyserythropoietic anemia  
X-linked dyskeratosis congenita +   
X-linked dystonia-parkinsonism  
X-linked Emery-Dreifuss muscular dystrophy 1  
X-linked Emery-Dreifuss muscular dystrophy 6  
X-linked hyper IgM syndrome  
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 74  
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia  
X-linked intellectual developmental disorder 108  
X-linked intellectual disability-short stature-overweight syndrome  
X-linked juvenile retinoschisis 1  
X-linked keratosis follicularis spinulosa decalvans  
X-linked lymphoproliferative syndrome 1  
X-linked lymphoproliferative syndrome 2  
X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques  
X-linked myopathy with excessive autophagy  
X-linked nephrolithiasis type I  
X-linked parkinsonism-spasticity syndrome  
X-linked properdin deficiency  
X-linked recessive hypophosphatemic rickets  
X-linked reticulate pigmentary disorder  
X-linked severe combined immunodeficiency  
X-linked severe congenital neutropenia  
X-linked sideroblastic anemia with ataxia  
X-linked spermatogenic failure 2  
X-linked spermatogenic failure 3  
X-linked spinal muscular atrophy 2  
X-linked spinocerebellar ataxia 1  
X-linked spinocerebellar ataxia 5 
X-linked spondyloepimetaphyseal dysplasia  
X-linked spondyloepiphyseal dysplasia tarda  
X-linked thrombocytopenia with beta-thalassemia  
X-linked VACTERL association  
xeroderma of eyelid 
xeroderma pigmentosum +   

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 ;   ICD10CM:Q80.1 ;   NCI:C84779
Definition Sources: https://rarediseases.info.nih.gov/diseases/7904/disease "DO", https://www.omim.org/entry/308100 "DO", MESH:D016114

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