rare disease | Q929833 |
developmental defect during embryogenesis | Q55788864 |
head and neck disease | Q55789477 |
class of disease | Q112193867 |
otopalatodigital syndrome spectrum disorder | Q3281416 |
X-linked dominant disease | Q55010089 |
otopalatodigital syndrome | Q56014249 |
P699 | Disease Ontology ID | DOID:0111783 |
P2888 | exact match | http://www.orpha.net/ORDO/Orphanet_669 |
http://identifiers.org/doid/DOID:0111783 | ||
http://purl.obolibrary.org/obo/DOID_0111783 | ||
http://www.orpha.net/ORDO/Orphanet_90650 | ||
P4317 | GARD rare disease ID | 5121 |
P494 | ICD-10 ID | Q87.0 |
P4229 | ICD-10-CM | Q87.0 |
P1692 | ICD-9-CM | 759.89 |
P5270 | Mondo ID | MONDO_0010704 |
P1748 | NCI Thesaurus ID | C118845 |
P492 | OMIM ID | 311300 |
311300 | ||
P1550 | Orphanet ID | 90650 |
P2892 | UMLS CUI | C2748918 |
C0265251 | ||
C2748919 | ||
P11430 | UniProt disease ID | DI-02113 |
P2293 | genetic association | FLNA | Q17928815 |
P1995 | health specialty | medical genetics | Q1071953 |