syndromic X-linked intellectual disability Hedera type
syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has material basis in mutation in the ATP6AP2 gene on chromosome Xp11
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Summary
syndromic X-linked intellectual disability Hedera type is a rare disease[1].
Key Facts
- syndromic X-linked intellectual disability Hedera type's instance of is recorded as rare disease[2].
- syndromic X-linked intellectual disability Hedera type's instance of is recorded as class of disease[3].
- syndromic X-linked intellectual disability Hedera type's subclass of is recorded as X-linked intellectual disability[4].
- syndromic X-linked intellectual disability Hedera type's MeSH descriptor ID is recorded as C564516[5].
- syndromic X-linked intellectual disability Hedera type's OMIM ID is recorded as 300423[6].
- syndromic X-linked intellectual disability Hedera type's Disease Ontology ID is recorded as DOID:0060806[7].
- syndromic X-linked intellectual disability Hedera type's Orphanet ID is recorded as 93952[8].
- syndromic X-linked intellectual disability Hedera type's genetic association is recorded as ATP6AP2[9].
- syndromic X-linked intellectual disability Hedera type's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060806[10].
- syndromic X-linked intellectual disability Hedera type's exact match is recorded as http://identifiers.org/doid/DOID:0060806[11].
- syndromic X-linked intellectual disability Hedera type's UMLS CUI is recorded as C1845543[12].
- syndromic X-linked intellectual disability Hedera type's on focus list of Wikimedia project is recorded as WikiProject Medicine[13].
- syndromic X-linked intellectual disability Hedera type's Mondo ID is recorded as MONDO_0010319[14].
- syndromic X-linked intellectual disability Hedera type's UniProt disease ID is recorded as DI-00741[15].