Abstract is: Terminal osseous dysplasia with pigmentary defects is a cutaneous condition characterized by hyperpigmented, atrophic facial macules. It has been associated with FLNA.
| rare disease | Q929833 |
| developmental defect during embryogenesis | Q55788864 |
| class of disease | Q112193867 |
| hyperpigmentation | Q1641068 |
| osteochondrodysplasia | Q3251367 |
| syndrome | Q179630 |
| autosomal dominant disease | Q18553439 |
| hyperpigmentation of the skin | Q55788594 |
| filamin-related bone disorder | Q55788802 |
| acromelic dysplasia | Q55788807 |
| P699 | Disease Ontology ID | DOID:0112149 |
| P2888 | exact match | http://identifiers.org/doid/DOID:0112149 |
| http://purl.obolibrary.org/obo/DOID_0112149 | ||
| http://www.orpha.net/ORDO/Orphanet_88630 | ||
| P4229 | ICD-10-CM | Q87.2 |
| P7807 | ICD-11 ID (Foundation) | 1298938435 |
| P665 | KEGG ID | H02229 |
| P486 | MeSH descriptor ID | C564554 |
| P6366 | Microsoft Academic ID | 2777350444 |
| P5270 | Mondo ID | MONDO_0010279 |
| P492 | OMIM ID | 300244 |
| 300244 | ||
| P1550 | Orphanet ID | 88630 |
| P2892 | UMLS CUI | C1846129 |
| CL527371 | ||
| C4509953 | ||
| P11430 | UniProt disease ID | DI-02914 |
| P11143 | WikiProjectMed ID | Terminal osseous dysplasia with pigmentary defects |
| P2293 | genetic association | FLNA | Q17928815 |
| Q85343057 | Anetoderma in a patient with terminal osseous dysplasia with pigmentary defects |
| Q52105733 | Clinical manifestations of terminal osseous dysplasia and pigmentary defects in a young girl |
| Q112955279 | Genetics of Digitocutaneous Dysplasia |
| Q39715199 | Noninclusion-body infantile digital fibromatosis: a lesion heralding terminal osseous dysplasia and pigmentary defects syndrome |
| Q51949237 | Terminal osseous dysplasia and pigmentary defects in a Brazilian girl. |
| Q39546773 | Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome |
| Q24620559 | Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene |
| Q91244903 | Terminal osseous dysplasia presenting with intracytoplasmic inclusion bodies in digital fibromas |
| Q35000737 | Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation |
| Q90607212 | Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings |
| Q51905478 | Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region. |
| Q92530684 | Terminal osseous dysplasia with pigmentary defects in a Chinese girl with the FLNA mutation: A case report and published work review |
| Q34145662 | Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter |
| Q58327646 | Terminal osseous dysplasia with pigmentary defects: Clinical description of a new family |
| Q38523583 | Terminal osseous dysplasia with pigmentary defects; Case and brief review of filamin A-related disorders |
| Q17928815 | FLNA | genetic association | P2293 |
| Terminal osseous dysplasia with pigmentary defects | wikipedia |
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