Ontology Browser

Ichthyosis Hystrix, Curth Macklin Type (DOID:9002744)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
ichthyosis +     
Acquired Ichthyosis 
autosomal dominant keratitis-ichthyosis-deafness syndrome  
autosomal recessive congenital ichthyosis +   
bullous congenital ichthyosiform erythroderma  
Camptodactyly-Ichthyosis Syndrome 
Cataract and Congenital Ichthyosis 
Congenital Ichthyosis with Trichothiodystrophy +   
Copper Deficiency, Familial Benign 
Deal Barratt Dillon Syndrome 
Dykes Markes Harper Syndrome 
epidermolytic hyperkeratosis +   
Garret Tripp Syndrome 
Grover's Disease 
HID Syndrome  
Ichthyosis Cheek Eyebrow Syndrome 
Ichthyosis Exfoliativa  
Ichthyosis Follicularis Atrichia Photophobia Syndrome  
Ichthyosis Hystrix Gravior 
Ichthyosis Hystrix, Curth Macklin Type  
Four genetic disorders of keratinization are known to have a structural defect of tonofibrils. In the Curth-Macklin form of ichthyosis hystrix (IHCM), concentric unbroken shells of abnormal tonofilaments form around the nucleus. IHCM is caused by heterozygous mutation in the KRT1 gene (139350) on chromosome 12q13. (OMIM)
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 
Jagell Holmgren Hofer Syndrome 
Keratosis Follicularis Spinulosa Decalvans, X-Linked  
Koone Rizzo Elias Syndrome 
Neu-Laxova syndrome 1  
Nisch syndrome  
Osteosclerosis with Ichthyosis and Fractures 
Rud Syndrome 
Ruzicka Goerz Anton syndrome 
Sammartino De Crecchio Syndrome 
seborrheic infantile dermatitis 
Sjogren-Larsson syndrome +   
Stormorken syndrome  
X-linked ichthyosis +   
xeroderma of eyelid 
Zunich Neuroectodermal Syndrome  

Exact Synonyms: IHCM
Primary IDs: MESH:C536088 ;   OMIM:146590
Alternate IDs: RDO:0001516

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