Leopard Syndrome
Disease ID: disease_node_11206
Connections displayed (default: 10).
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| Dbxref | GARD:1100, MESH:D044542, MIM:PS151100, NCI:C84820, ORDO:500, SNOMEDCT_US_2023_03_01:111306001, UMLS_CUI:C0175704 |
|---|---|
| Subclassof | DOID_0050736, DOID_0080690 |
| Data Source | DOID, MESH |
| Synonyms | Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome, Generalized lentiginosis, Gorlin syndrome II, LEOPARD syndrome, Lentiginosis profusa syndrome, Moynahan syndrome, Multiple lentigines syndrome, Progressive cardiomyopathic lentiginosis |
| Mesh Id | D044542 |
| Mesh Label | LEOPARD Syndrome |
| Mesh Subclassof | D011666, D019465, D006330, D000015, D007911 |
| Doid Label | Noo syndrome with multiple lentigines |
| Doid Description | A RASopathy that is characterized by autosomal domit 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. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_11206 |
| Doid Id | DOID_14291 |
| Label | Leopard Syndrome |
- Incoming r'ship
SUBCLASS_OFto/from Noo Syndrome With Multiple Lentigines 1(ID:disease_node_19058) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Noo Syndrome With Multiple Lentigines 3(ID:disease_node_19057) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Rasopathy(ID:disease_node_19055) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)