loading...| Preferred Name |
Borjeson-Forssman-Lehmann syndrome |
| Synonyms |
intellectual disability, X-linked, syndromic, Borjeson-Forssman-Lehmann type MRXSBFL intellectual disability-epilepsy-endocrine disorders syndrome intellectual disability, epilepsy, and endocrine disorders BFLS Borjeson-Forssman-Lehmann syndrome, X-linked recessive mental retardation, epilepsy, and endocrine disorder Borjeson-Forssman-Lehmann syndrome mental retardation, epilepsy, and endocrine disorders mental retardation, X-linked, syndromic, Borjeson-Forssman-Lehmann type intellectual deficiency-epilepsy-endocrine disorders syndrome syndromic X-linked intellectual disability Borjeson-Forssman-Lehmann type BORJ Borjeson syndrome syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type mental deficiency, epilepsy and endocrine disorders intellectual disability, epilepsy, and endocrine disorder Borjeson-FORSSMAN-Lehmann syndrome |
| Definitions |
A X-linked yndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0010537 |
| database_cross_reference |
DOID:0050681 MESH:C536575 OMIM:301900 SCTID:21634003 GARD:0000936 ICD9:759.89 UMLS:C0265339 Orphanet:127 |
| definition |
A X-linked yndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes. |
| exactMatch |
http://identifiers.org/snomedct/21634003 http://purl.obolibrary.org/obo/DOID_0050681 http://purl.obolibrary.org/obo/Orphanet_127 |
| has_exact_synonym |
MRXSBFL intellectual disability-epilepsy-endocrine disorders syndrome BFLS Borjeson-Forssman-Lehmann syndrome, X-linked recessive mental retardation, epilepsy, and endocrine disorder Borjeson-Forssman-Lehmann syndrome intellectual deficiency-epilepsy-endocrine disorders syndrome syndromic X-linked intellectual disability Borjeson-Forssman-Lehmann type BORJ Borjeson syndrome syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type intellectual disability, epilepsy, and endocrine disorder |
| has_related_synonym |
intellectual disability, X-linked, syndromic, Borjeson-Forssman-Lehmann type intellectual disability, epilepsy, and endocrine disorders mental retardation, epilepsy, and endocrine disorders mental retardation, X-linked, syndromic, Borjeson-Forssman-Lehmann type mental deficiency, epilepsy and endocrine disorders Borjeson-FORSSMAN-Lehmann syndrome |
| IAO_0000233 | |
| id |
MONDO:0010537 |
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome |
| label |
Borjeson-Forssman-Lehmann syndrome |
| notation |
MONDO:0010537 |
| prefLabel |
Borjeson-Forssman-Lehmann syndrome |
| seeAlso |
https://rarediseases.info.nih.gov/diseases/936/borjeson-forssman-lehmann-syndrome |
| treeView | |
| excluded subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015159 http://purl.obolibrary.org/obo/MONDO_0016565 http://purl.obolibrary.org/obo/MONDO_0015653 |
| subClassOf |