Noonan syndrome with multiple lentigines
Information
- Disease name
- Noonan syndrome with multiple lentigines
- Disease ID
- DOID:14291
- Description
- "A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature." [url:https\://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines#inheritance, url:https\://rarediseases.info.nih.gov/diseases/1100/leopard-syndrome]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT04395495 | Recruiting | RASopathy Biorepository | June 27, 2017 | December 2065 |
- Exact Synonym (Disease Ontology)
- Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome
- Exact Synonym (Disease Ontology)
- Generalized lentiginosis
- Exact Synonym (Disease Ontology)
- Gorlin syndrome II
- Exact Synonym (Disease Ontology)
- Lentiginosis profusa syndrome
- Exact Synonym (Disease Ontology)
- LEOPARD syndrome
- Exact Synonym (Disease Ontology)
- Moynahan syndrome
- Exact Synonym (Disease Ontology)
- Multiple lentigines syndrome
- Exact Synonym (Disease Ontology)
- Progressive cardiomyopathic lentiginosis
- Disase is a (Disease Ontology)
- DOID:0080690
- Cross Reference ID (Disease Ontology)
- GARD:1100
- Cross Reference ID (Disease Ontology)
- MESH:D044542
- Cross Reference ID (Disease Ontology)
- MIM:PS151100
- Cross Reference ID (Disease Ontology)
- NCI:C84820
- Cross Reference ID (Disease Ontology)
- ORDO:500
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:111306001
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0175704
- OrphaNumber from OrphaNet (Orphanet)
- 500
- MedGen unique identifier (MedGen Concept name)
- 104494
- MedGen concept unique identifier (MedGen Concept name)
- C0175704