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Ontology Browser
Term:
syndromic recessive X-linked ichthyosis (EFO:MONDO:0017264)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
Accommodative esotropia 
Alagille syndrome +  
alpha-mannosidosis +  
anterior segment dysgenesis +  
autoimmune/inflammatory optic neuropathy +   
Axenfeld anomaly 
blindness - scoliosis - arachnodactyly syndrome 
CHILD syndrome 
chondroectodermal dysplasia with night blindness 
choroidal neovascularization 
coloboma +  
conjunctival disorder +   
corneal disease +   
developmental defect of the eye +   
diabetic eye disease +   
dyssegmental dysplasia-glaucoma syndrome 
ectodermal dysplasia-blindness syndrome 
Ehlers-Danlos syndrome, kyphoscoliotic type 1 
essential strabismus 
eye accommodation disease +   
eye adnexa disease +   
eye allergy +  
eye degenerative disorder +   
eye foreign body 
eye hemorrhage +  
eye infectious disorder +   
Eye Injuries, Penetrating 
eye neoplasm +   
eyelid disease +   
familial cavitary optic disk anomaly 
fatty acyl-CoA reductase 1 deficiency 
Foster-Kennedy syndrome 
galactosemia +  
galactosialidosis 
Gardner syndrome 
Gaucher disease +   
glaucoma +   
glaucoma-sleep apnea syndrome 
global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome 
GM1 gangliosidosis +  
Graves ophthalmopathy  
hereditary hyperferritinemia with congenital cataracts 
hereditary optic neuropathy +  
IgG4-related ophthalmic disorder +  
IRVAN syndrome 
isolated ankyloblepharon filiforme adnatum 
isolated anophthalmia-microphthalmia syndrome +  
isolated Pierre-Robin syndrome 
Ito hypomelanosis 
lacrimal apparatus disease +   
lamellar ichthyosis +  
lens disease +   
Lowry-MacLean syndrome 
LTBP2-related ocular dysgenesis +  
Marshall syndrome 
megalocornea-intellectual disability syndrome 
mevalonic aciduria 
microcornea-corectopia-macular hypoplasia syndrome 
microcornea-glaucoma-absent frontal sinuses syndrome 
microphthalmia +  
mucolipidosis type IV 
mucopolysaccharidosis type 1 +  
mucopolysaccharidosis type 6 +  
nail-patella syndrome 
Netherton syndrome 
neuroocular syndrome 
Niemann-Pick disease type A 
Non-accomodative esotropia 
occular toxicity 
ocular cystinosis 
ocular hypertension  
ocular hypotension  
ocular motility disease +   
ocular motor apraxia, Cogan type 
ocular posterior capsular rupture 
ocular sarcoidosis  
ocular siderosis 
ocular vascular disease +   
oculocerebrorenal syndrome 
oculodentodigital dysplasia +  
oculomucocutaneous syndrome 
Opsoclonus-Myoclonus Syndrome 
optic neuritis +   
Peters plus syndrome 
phakomatosis pigmentovascularis +  
piebaldism 
pigment dispersion syndrome  
ptosis +   
Rare genetic eye disease +   
red color blindness 
refractive error +   
retinopathy +   
Retrobulbar Hemorrhage 
rhizomelic chondrodysplasia punctata +  
Rothmund-Thomson syndrome type 2 
scleral disorder +  
SHORT syndrome 
Smith-Lemli-Opitz syndrome 
Sturge-Weber syndrome 
subacute myelo-opticoneuropathy 
syndromic recessive X-linked ichthyosis 
Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI that are associated with extracutaneous manifestations as part of a syndrome.
Takayasu arteritis  
Tietz syndrome 
tyrosinemia type II 
uveal disorder +   
vitreous body disease +   
X-linked cone dysfunction syndrome with myopia 
X-linked dominant chondrodysplasia punctata 

Synonyms
Exact Synonyms: recessive X-linked ichthyosis with extracutaneous manifestations ;   syndrome associated with recessive X-linked ichthyosis ;   syndromic RXLI ;   syndromic X-linked ichthyosis
Alternate IDs: MONDO:0017264
Xrefs: GARD:17302 ;   MEDGEN:904038 ;   ORDO:281090 ;   SCTID:717041008 ;   UMLS:C4274085
Definition Sources: Orphanet:281090

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