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Feingold KR, Anawalt B, Blackman MR, et al., editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000-.
| Group/name of disorder | Inher. | OMIM | GR | Orpha | Gene |
|---|---|---|---|---|---|
| Hypophosphatasia, perinatal lethal and infantile forms | AR | 241500 | 1150 | 436 | ALPL |
| Hypophosphatasia, adult form | AD | 146300 | 1150 | 436 | ALPL |
| Hypophosphatemic rickets, X-linked dominant | XLD | 307800 | 83985 | 89936 | PHEX |
| Hypophosphatemic rickets, autosomal dominant | AD | 193100 | 89937 | FGF23 | |
| Hypophosphatemic rickets, autosomal recessive, type 1 (ARHR1) | AR | 241520 | 289176 | DMP1 | |
| Hypophosphatemic rickets, autosomal recessive, type 2 (ARHR2) | AR | 613312 | 289176 | ENPP1 | |
| Hypophosphatemic rickets with hypercalciuria, X-linked recessive | XLR | 300554 | 1652 | ClCN5 | |
| Hypophosphatemic rickets with hypercalciuria, autosomal recessive (HHRH) | AR | 241530 | 157215 | SLC34A3 | |
| Neonatal hyperparathyroidism, severe form | AR | 239200 | 417 | CASR | |
| Familial hypocalciuric hypercalcemia with transient neonatal hyperparathyroidism | AD | 145980 | 405 | CASR | |
| Calcium pyrophosphate deposition disease (familial chondrocalcinosis) type 2 | AD | 118600 | 1416 | ANKH |
From: Skeletal Dysplasias
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