isolated microphthalmia 3
microphthalmia characterized by clinical anophthalmia and/or microphthalmia that has material basis in compound heterozygous mutation in the RAX gene on chromosome 18q21
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isolated microphthalmia 3
Summary
isolated microphthalmia 3 is a rare disease[1].
Key Facts
- isolated microphthalmia 3's instance of is recorded as rare disease[2].
- isolated microphthalmia 3's instance of is recorded as class of disease[3].
- isolated microphthalmia 3's subclass of is recorded as microphthalmia[4].
- isolated microphthalmia 3's subclass of is recorded as genetic disease[5].
- isolated microphthalmia 3's subclass of is recorded as autosomal recessive disease[6].
- isolated microphthalmia 3's subclass of is recorded as isolated microphthalmia[7].
- isolated microphthalmia 3's OMIM ID is recorded as 611038[8].
- isolated microphthalmia 3's Disease Ontology ID is recorded as DOID:0060842[9].
- isolated microphthalmia 3's Orphanet ID is recorded as 2542[10].
- isolated microphthalmia 3's health specialty is recorded as medical genetics[11].
- isolated microphthalmia 3's genetic association is recorded as RAX[12].
- isolated microphthalmia 3's genetic association is recorded as VSX2[13].
- isolated microphthalmia 3's genetic association is recorded as GDF6[14].
- isolated microphthalmia 3's genetic association is recorded as PRSS56[15].
- isolated microphthalmia 3's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060842[16].
- isolated microphthalmia 3's exact match is recorded as http://identifiers.org/doid/DOID:0060842[17].
- isolated microphthalmia 3's UMLS CUI is recorded as C5679828[18].
- isolated microphthalmia 3's ICD-10-CM is recorded as Q11.0[19].
- isolated microphthalmia 3's on focus list of Wikimedia project is recorded as WikiProject Medicine[20].
- isolated microphthalmia 3's Mondo ID is recorded as MONDO_0012604[21].
- isolated microphthalmia 3's UniProt disease ID is recorded as DI-00756[22].