loading...| Preferred Name |
otopalatodigital syndrome type 2 |
| Synonyms |
OPD syndrome 2 Andre syndrome OPD II syndrome otopalatodigital syndrome, type II, X-linked dominant faciopalatoosseous syndrome FPO otopalatodigital syndrome, type 2 otopalatodigital syndrome, type II OPD 2 syndrome cranio-oro-digital syndrome OPD2 cranioorodigital syndrome oto-palato-digital syndrome type 2 |
| Definitions |
A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0010571 |
| database_cross_reference |
MESH:C538089 GARD:0005802 DOID:0111784 SCTID:42432003 ICD9:759.89 OMIM:304120 Orphanet:90652 |
| definition |
A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival. |
| exactMatch |
http://purl.obolibrary.org/obo/DOID_0111784 http://identifiers.org/snomedct/42432003 |
| has_exact_synonym |
OPD syndrome 2 OPD II syndrome otopalatodigital syndrome, type II, X-linked dominant OPD 2 syndrome |
| has_related_synonym |
Andre syndrome faciopalatoosseous syndrome FPO otopalatodigital syndrome, type 2 otopalatodigital syndrome, type II cranio-oro-digital syndrome OPD2 cranioorodigital syndrome oto-palato-digital syndrome type 2 |
| IAO_0000233 | |
| id |
MONDO:0010571 |
| in_subset | |
| label |
otopalatodigital syndrome type 2 |
| notation |
MONDO:0010571 |
| prefLabel |
otopalatodigital syndrome type 2 |
| treeView | |
| subClassOf |