loading...| Preferred Name | otopalatodigital syndrome type 2 | |
| Synonyms |
otopalatodigital syndrome type II OPD II syndrome Andre syndrome oto-palato-digital syndrome type 2 OPD syndrome 2 faciopalatoosseous syndrome 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 |
|
| Obsolete |
true |
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| alternative label |
otopalatodigital syndrome type II OPD II syndrome Andre syndrome oto-palato-digital syndrome type 2 OPD syndrome 2 faciopalatoosseous syndrome OPD2 |
|
| database_cross_reference |
UMLS_CUI:C1844696 SNOMEDCT_US_2023_03_01:42432003 MESH:C538089 OMIM:304120 GARD:5802 ORDO:90652 |
|
| 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 |
otopalatodigital syndrome type II OPD II syndrome Andre syndrome oto-palato-digital syndrome type 2 OPD syndrome 2 faciopalatoosseous syndrome OPD2 |
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| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0111784 |
|
| in_subset | ||
| label |
otopalatodigital syndrome type 2 |
|
| notation |
DOID:0111784 |
|
| note |
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. |
|
| owl:deprecated |
true |
|
| preferred label |
otopalatodigital syndrome type 2 |
|
| prefLabel |
otopalatodigital syndrome type 2 |
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| subClassOf |