Ontology Browser

Term:
autosomal recessive congenital ichthyosis 11 (DOID:0060720)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
alopecia +   
autosomal recessive congenital ichthyosis 1 +   
autosomal recessive congenital ichthyosis 10  
autosomal recessive congenital ichthyosis 11  
An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24. (DO)
Autosomal Recessive Congenital Ichthyosis 12  
autosomal recessive congenital ichthyosis 13  
autosomal recessive congenital ichthyosis 14  
autosomal recessive congenital ichthyosis 2  
autosomal recessive congenital ichthyosis 3  
autosomal recessive congenital ichthyosis 4A  
autosomal recessive congenital ichthyosis 4B  
autosomal recessive congenital ichthyosis 5  
autosomal recessive congenital ichthyosis 6  
autosomal recessive congenital ichthyosis 7 
autosomal recessive congenital ichthyosis 8  
autosomal recessive congenital ichthyosis 9  
Autosomal Recessive Congenital Ichthyosis, Ichthyin-Related 
Basaran Yilmaz Syndrome  
Bazex-Dupre-Christol Syndrome 
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 
CHILD Syndrome  
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
congenital hypotrichosis with juvenile macular dystrophy  
Ectodermal Dysplasia, Trichoodontoonychial Type 
hypotrichosis 1  
hypotrichosis 10 
hypotrichosis 11  
hypotrichosis 12  
hypotrichosis 13  
Hypotrichosis 14  
hypotrichosis 2  
hypotrichosis 3  
hypotrichosis 4  
hypotrichosis 5 
hypotrichosis 6  
hypotrichosis 7  
hypotrichosis 8  
hypotrichosis 9 
hypotrichosis and recurrent skin vesicles  
hypotrichosis of eyelid 
Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate 
Hypotrichosis-Lymphedema-Telangiectasia Syndrome +   
Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 
Ichthyosis Congenita with Biliary Atresia 
Ketoadipicaciduria 
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Loucks-Innes Syndrome  
Netherton syndrome  
neutral lipid storage disease +   
Nicolaides Baraitser Syndrome  
Reticular Erythrokeratoderma  
Rombo syndrome 
Schopf-Schulz-Passarge Syndrome  
Self-Healing Collodion Baby 
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
Spondyloepimetaphyseal Dysplasia with Hypotrichosis 
Storm Syndrome 
Trichoodontoonychial Dysplasia 
Woolly Hair, Autosomal Recessive 3  

Synonyms
Exact Synonyms: ARCI11 ;   ARIH ;   ICHTHYOSIS AND FOLLICULAR ATROPHODERMA WITH HYPOTRICHOSIS AND HYPOHIDROSIS ;   IFAH ;   IFAH syndrome ;   IHS ;   Ichthyosis, Follicular Atrophoderma, Hypotrichosis, and Hypohidrosis ;   autosomal recessive ichthyosis with hypotrichosis ;   hypotrichosis-congenital ichthyosis syndrome ;   ichthyosis-follicular atrophoderma-hypotrichosis syndrome ;   ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome ;   ichthyosis-hypotrichosis syndrome
Primary IDs: MESH:C536273 ;   RDO:0001789
Alternate IDs: OMIM:602400 ;   RDO:0014877 ;   RDO:0015943
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/17273967, https://www.ncbi.nlm.nih.gov/pubmed/18843291, https://www.ncbi.nlm.nih.gov/pubmed/9450882

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.