loading...| Preferred Name |
Borjeson-Forssman-Lehmann syndrome |
| Synonyms |
MRXSBFL |
| Definitions |
An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene. OMIM mapping confirmed by DO. [SN]. |
| ID |
http://purl.obolibrary.org/obo/DOID_0050681 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
UMLS_CUI:C0265339 NCI:C157122 MESH:C536575 OMIM:301900 ORDO:127 SNOMEDCT_US_2022_09_01:21634003 GARD:936 |
| definition |
An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene. |
| has exact synonym |
MRXSBFL mental retardation, epilepsy, and endocrine disorder BFLS BORJ intellectual deficiency-epilepsy-endocrine disorders syndrome Borjeson syndrome syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0050681 |
| in_subset | |
| label |
Borjeson-Forssman-Lehmann syndrome |
| notation |
DOID:0050681 |
| prefLabel |
Borjeson-Forssman-Lehmann syndrome |
| subClassOf |