Xia-Gibbs Syndrome
autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of AHDC1 on chromosome 1p36.1-p35.3
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Xia-Gibbs Syndrome
Summary
Xia-Gibbs Syndrome is a rare disease[1].
Key Facts
- Xia-Gibbs Syndrome's instance of is recorded as rare disease[2].
- Xia-Gibbs Syndrome's instance of is recorded as class of disease[3].
- Xia-Gibbs Syndrome's subclass of is recorded as autosomal dominant non-syndromic intellectual disability[4].
- Xia-Gibbs Syndrome's subclass of is recorded as genetic syndromic intellectual disability[5].
- Xia-Gibbs Syndrome's OMIM ID is recorded as 615829[6].
- Xia-Gibbs Syndrome's Disease Ontology ID is recorded as DOID:0070055[7].
- Xia-Gibbs Syndrome's Orphanet ID is recorded as 412069[8].
- Xia-Gibbs Syndrome's NCI Thesaurus ID is recorded as C192092[9].
- Xia-Gibbs Syndrome's genetic association is recorded as AHDC1[10].
- Xia-Gibbs Syndrome's Google Knowledge Graph ID is recorded as /g/11cm32qyfy[11].
- Xia-Gibbs Syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0070055[12].
- Xia-Gibbs Syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0070055[13].
- Xia-Gibbs Syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_412069[14].
- Xia-Gibbs Syndrome's UMLS CUI is recorded as C4014419[15].
- Xia-Gibbs Syndrome's ICD-10-CM is recorded as Q87.8[16].
- Xia-Gibbs Syndrome's GARD rare disease ID is recorded as 13409[17].
- Xia-Gibbs Syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[18].
- Xia-Gibbs Syndrome's Mondo ID is recorded as MONDO_0014358[19].
- Xia-Gibbs Syndrome's Genetics Home Reference Conditions ID is recorded as xia-gibbs-syndrome[20].
- Xia-Gibbs Syndrome's UniProt disease ID is recorded as DI-04125[21].