loading...| Preferred Name |
Mucolipidosis type IV |
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| Synonyms |
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| Definitions |
A rare lysosomal storage disease characterized clinically by severe global development delay due to neuronal dysmyelination, hypotonia which gradually progresses to spasticity during childhood, speech deficits, progressive visual impairment (due to corneal clouding, retinal degeneration and optic atrophy), achlorhydria, with increased gastrin secretion and iron deficiency anemia, and kidney disease and failure, all in the absence of dysmorphic features. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_578 |
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| definition |
A rare lysosomal storage disease characterized clinically by severe global development delay due to neuronal dysmyelination, hypotonia which gradually progresses to spasticity during childhood, speech deficits, progressive visual impairment (due to corneal clouding, retinal degeneration and optic atrophy), achlorhydria, with increased gastrin secretion and iron deficiency anemia, and kidney disease and failure, all in the absence of dysmorphic features. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=578 |
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| has_age_of_onset |
Infancy |
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| has_inheritance |
Autosomal recessive |
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| hasDbXref |
UMLS:C0238286 ICD-11:5C56.0Y ICD-10:E75.1 OMIM:252650 MedDRA:10072930 |
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| label |
Mucolipidosis type IV |
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| notation |
ORPHA:578 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_79212 http://www.orpha.net/ORDO/Orphanet_522520 http://www.orpha.net/ORDO/Orphanet_611314 http://www.orpha.net/ORDO/Orphanet_98683 |
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| prefixIRI |
ORDO:Orphanet_578 |
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| prefLabel |
Mucolipidosis type IV |
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| present_in |
Specific population AND has_birth_prevalence_average_value : 2.5 AND has_birth_prevalence_range : 1-9 / 100 000 Sweden AND has_birth_prevalence_average_value : 0.1 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_79212 http://www.orpha.net/ORDO/Orphanet_522520 http://www.orpha.net/ORDO/Orphanet_611314 http://www.orpha.net/ORDO/Orphanet_98683 |
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| subClassOf |