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Ontology Browser

Term:
Ichthyosis Hystrix, Curth Macklin Type (DOID:9002744)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
ichthyosis +     
Acquired Ichthyosis 
autosomal recessive congenital ichthyosis +   
bullous congenital ichthyosiform erythroderma  
Camptodactyly-Ichthyosis Syndrome 
Cataract and Congenital Ichthyosis 
CHIME syndrome  
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 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 
ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES  
IFAP Syndrome +   
Jagell Holmgren Hofer Syndrome 
Keratitis-Ichthyosis-Deafness Syndrome +   
keratosis pilaris atrophicans +   
Koone Rizzo Elias Syndrome 
Lamellar Ichthyosis, Autosomal Dominant Form  
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  
Trichodysplasia-Xeroderma 
X-linked ichthyosis +   
xeroderma of eyelid 

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

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