loading...| Preferred Name |
otopalatodigital syndrome type 2 |
| Synonyms |
faciopalatoosseous syndrome otopalatodigital syndrome type II OPD II syndrome OPD syndrome 2 Andre syndrome oto-palato-digital syndrome type 2 OPD2 |
| Definitions |
An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4, or 5 in males or exons 28 or 29 in females of the FLNA gene on chromosome Xq28. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111784 |
| database_cross_reference |
SNOMEDCT_US_2022_09_01:42432003 GARD:5802 MESH:C538089 OMIM:304120 ORDO:90652 UMLS_CUI:C1844696 |
| definition |
An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4, or 5 in males or exons 28 or 29 in females of the FLNA gene on chromosome Xq28. |
| has exact synonym |
faciopalatoosseous syndrome otopalatodigital syndrome type II OPD II syndrome OPD syndrome 2 Andre syndrome oto-palato-digital syndrome type 2 OPD2 |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111784 |
| in_subset | |
| label |
otopalatodigital syndrome type 2 |
| notation |
DOID:0111784 |
| prefLabel |
otopalatodigital syndrome type 2 |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C538089 | Medical Subject Headings | LOOM |