hypomyelinating leukodystrophy 9
hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has material basis in compound heterozygous mutation in the RARS gene on chromosome 5q34
Press Enter · cited answer in seconds
0 sources
hypomyelinating leukodystrophy 9
Summary
hypomyelinating leukodystrophy 9 is a rare disease[1].
Key Facts
- hypomyelinating leukodystrophy 9's instance of is recorded as rare disease[2].
- hypomyelinating leukodystrophy 9's instance of is recorded as class of disease[3].
- hypomyelinating leukodystrophy 9's subclass of is recorded as hypomyelinating leukodystrophy[4].
- hypomyelinating leukodystrophy 9's subclass of is recorded as genetic syndromic intellectual disability[5].
- hypomyelinating leukodystrophy 9's subclass of is recorded as autosomal recessive disease[6].
- hypomyelinating leukodystrophy 9's OMIM ID is recorded as 616140[7].
- hypomyelinating leukodystrophy 9's Disease Ontology ID is recorded as DOID:0060791[8].
- hypomyelinating leukodystrophy 9's Orphanet ID is recorded as 438114[9].
- hypomyelinating leukodystrophy 9's genetic association is recorded as RARS1[10].
- hypomyelinating leukodystrophy 9's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060791[11].
- hypomyelinating leukodystrophy 9's exact match is recorded as http://identifiers.org/doid/DOID:0060791[12].
- hypomyelinating leukodystrophy 9's UMLS CUI is recorded as C4015323[13].
- hypomyelinating leukodystrophy 9's ICD-10-CM is recorded as E75.2[14].
- hypomyelinating leukodystrophy 9's on focus list of Wikimedia project is recorded as WikiProject Medicine[15].
- hypomyelinating leukodystrophy 9's Mondo ID is recorded as MONDO_0014506[16].
- hypomyelinating leukodystrophy 9's UniProt disease ID is recorded as DI-04288[17].