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| Term | chondrodysplasia punctata | ID (Ontology) | DOID:2581 (Human Disease) |
| Definition | A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography. | ||
| Also Known As | "Chondrodysplasia punctata congenita" | ||
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disease |__syndrome___________ genetic disease | |__monogenic disease__| chondrodysplasia punctata 18 rec. |__autosomal dominant chondrodysplasia punctata |__rhizomelic chondrodysplasia punctata 15 rec. | |__rhizomelic chondrodysplasia punctata type 1 1 rec. | |__rhizomelic chondrodysplasia punctata type 2 1 rec. | |__rhizomelic chondrodysplasia punctata type 3 1 rec. | |__rhizomelic chondrodysplasia punctata type 5 1 rec. | |__rhizomelic chondrodysplasia punctate type 4 11 rec. |__X-linked chondrodysplasia punctata 1 2 rec. |__X-linked chondrodysplasia punctata 2 1 rec. |__chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 1 rec. |
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monogenic disease syndrome |
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GARD:8542 ICD10CM:Q77.3 MESH:D002806 MIM:215105 NCI:C84632 ORDO:93442 SNOMEDCT_US_2023_03_01:205486004 UMLS_CUI:C0008445 |
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