Ritscher-Schinzel syndrome 2
Ritscher-Schinzel syndrome that has material basis in mutation in the CCDC22 gene on chromosome Xp11
Press Enter · cited answer in seconds
0 sources
Ritscher-Schinzel syndrome 2
Summary
Ritscher-Schinzel syndrome 2 is a rare disease[1].
Key Facts
- Ritscher-Schinzel syndrome 2's instance of is recorded as rare disease[2].
- Ritscher-Schinzel syndrome 2's instance of is recorded as class of disease[3].
- Ritscher-Schinzel syndrome 2's subclass of is recorded as Ritscher–Schinzel syndrome[4].
- Ritscher-Schinzel syndrome 2's subclass of is recorded as genetic disease[5].
- Ritscher-Schinzel syndrome 2's subclass of is recorded as X-linked recessive disease[6].
- Ritscher-Schinzel syndrome 2's OMIM ID is recorded as 300963[7].
- Ritscher-Schinzel syndrome 2's Disease Ontology ID is recorded as DOID:0060572[8].
- Ritscher-Schinzel syndrome 2's Orphanet ID is recorded as 7[9].
- Ritscher-Schinzel syndrome 2's genetic association is recorded as CCDC22[10].
- Ritscher-Schinzel syndrome 2's genetic association is recorded as WASHC5[11].
- Ritscher-Schinzel syndrome 2's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060572[12].
- Ritscher-Schinzel syndrome 2's exact match is recorded as http://identifiers.org/doid/DOID:0060572[13].
- Ritscher-Schinzel syndrome 2's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_7[14].
- Ritscher-Schinzel syndrome 2's UMLS CUI is recorded as C4225419[15].
- Ritscher-Schinzel syndrome 2's on focus list of Wikimedia project is recorded as WikiProject Medicine[16].
- Ritscher-Schinzel syndrome 2's Mondo ID is recorded as MONDO_0010499[17].
- Ritscher-Schinzel syndrome 2's UniProt disease ID is recorded as DI-04573[18].