loading...| Preferred Name | otopalatodigital syndrome type 2 | |
| Synonyms |
otopalatodigital syndrome, type II Andre syndrome otopalatodigital syndrome, type 2 oto-palato-digital syndrome type 2 faciopalatoosseous syndrome cranioorodigital syndrome cranio-oro-digital syndrome FPO OPD2 OPD 2 syndrome OPD II syndrome otopalatodigital syndrome, type II, X-linked dominant OPD syndrome 2 Otopalatodigital Syndrome Type I and II |
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| 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 |
ICD9:759.89 MESH:C538089 UMLS:C1844696 icd11.foundation:1897308206 OMIM:304120 Orphanet:90652 DOID:0111784 MEDGEN:337064 SCTID:42432003 GARD:5802 NORD:1539 |
|
| 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://identifiers.org/mesh/C538089 http://identifiers.org/snomedct/42432003 http://identifiers.org/medgen/337064 http://purl.obolibrary.org/obo/DOID_0111784 http://purl.obolibrary.org/obo/Orphanet_90652 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1897308206 |
|
| has_exact_synonym |
OPD 2 syndrome OPD II syndrome otopalatodigital syndrome, type II, X-linked dominant OPD syndrome 2 Otopalatodigital Syndrome Type I and II |
|
| has_related_synonym |
otopalatodigital syndrome, type II Andre syndrome otopalatodigital syndrome, type 2 oto-palato-digital syndrome type 2 faciopalatoosseous syndrome cranioorodigital syndrome cranio-oro-digital syndrome FPO OPD2 |
|
| IAO_0000233 | ||
| id |
MONDO:0010571 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
otopalatodigital syndrome type 2 |
|
| notation |
MONDO:0010571 |
|
| preferred label |
otopalatodigital syndrome type 2 |
|
| prefLabel |
otopalatodigital syndrome type 2 |
|
| subClassOf |