mondo
mondo copied to clipboard
monarch-initiative
Mondo Disease Ontology
### Mondo term COACH syndrome 2; retinitis pigmentosa 93 ### Synonyms CC2D2A COACH syndrome; CC2D2A retinitis pigmentosa ### Synonym type exact ### Additional comments There is a search requirement scenario:...
**Mondo term (ID and Label):** MONDO:0013069, autosomal recessive optic atrophy, OPA7 type **Suggested new label:** TMEM126A-related optic atrophy with or without extraocular features **Your nano-attribution (ORCID)** https://orcid.org/0009-0007-1636-9645 **_Optional_: Any additional...
### Label linkeropathy ### Synonyms linkeropathies, linkeropathy syndromes ### Synonym type exact ### Definition Linkeropathies (LKs) refers to a group of rare heritable connective tissue disorders, characterized by a variable...
**Mondo term (ID and Label):** MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency **Suggested new label:** CTPS1 related combined immunodeficiency **Your nano-attribution (ORCID)** https://orcid.org/0000-0002-7437-8060 **_Optional_: Any additional information (like supporting...
### Mondo term intellectual disability, autosomal dominant 42 ### Synonyms _No response_ ### Synonym type exact ### Additional comments This is related to 6600. We have a NORD report about...
We have recently requested some new terms for gene related disorders. One of them is a developmental and epileptic encephalopathy and we have suggested the MONDO:0100062 as a parent term....
**Preferred gene-related syndrome label** PPFIA3-related neurodevelopmental disorder **Synonyms** **Parent term (use [OLS](https://www.ebi.ac.uk/ols/ontologies/mondo), or your favorite ontology browser)** MONDO_0100500 **Definition** A neurodevelopmental disorder caused by variation in the PPFIA3 gene. This...
**Preferred gene-related syndrome label** CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy **Synonyms** **Parent term (use [OLS](https://www.ebi.ac.uk/ols/ontologies/mondo), or your favorite ontology browser)** MONDO_0100500 **Definition** A neurodevelopmental disorder caused by variation in the...
**Preferred gene-related syndrome label** CTR9-related neurodevelopmental disorder **Synonyms** **Parent term (use [OLS](https://www.ebi.ac.uk/ols/ontologies/mondo), or your favorite ontology browser)** MONDO_0100500 **Definition** A neurodevelopmental disorder caused by variation in the CTR9 gene. This...
**Preferred gene-related syndrome label** PRPF19-related neurodevelopmental disorder **Synonyms** **Parent term (use [OLS](https://www.ebi.ac.uk/ols/ontologies/mondo), or your favorite ontology browser)** MONDO_0100500 **Definition** A neurodevelopmental disorder caused by variation in the PRPF19 gene. This...