ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
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(OMIM:201750)
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Alpha-mannosidosis
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(Orphanet:61)
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Antley-Bixler syndrome
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(Orphanet:83)
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BRUCK SYNDROME 2
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(OMIM:609220)
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Campomelic dysplasia
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(Orphanet:140)
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Dent disease type 1
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(Orphanet:93622)
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FANCONI RENOTUBULAR SYNDROME 2
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(OMIM:613388)
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Fuhrmann syndrome
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(Orphanet:2854)
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Geroderma osteodysplastica
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(Orphanet:2078)
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HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE
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(OMIM:300554)
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Hereditary hypophosphatemic rickets with hypercalciuria
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(Orphanet:157215)
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Hypocalcemic vitamin D-dependent rickets
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(Orphanet:289157)
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Hypocalcemic vitamin D-resistant rickets
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(Orphanet:93160)
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KNIEST-LIKE DYSPLASIA WITH PURSED LIPS AND ECTOPIA LENTIS
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(OMIM:245160)
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Kyphomelic dysplasia
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(Orphanet:1801)
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MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
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(OMIM:210710)
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Metaphyseal anadysplasia
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(Orphanet:1040)
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Metaphyseal chondrodysplasia, Schmid type
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(Orphanet:174)
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Microcephalic osteodysplastic primordial dwarfism types 1 and 3
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(Orphanet:2636)
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OSTEOGENESIS IMPERFECTA, TYPE VIII
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(OMIM:610915)
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OSTEOSCLEROSIS WITH ICHTHYOSIS AND FRACTURES
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(OMIM:166740)
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Osteogenesis imperfecta type 1
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(Orphanet:216796)
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Otopalatodigital syndrome
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(Orphanet:669)
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Otopalatodigital syndrome type 2
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(Orphanet:90652)
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Phocomelia, Schinzel type
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(Orphanet:2879)
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RENAL-HEPATIC-PANCREATIC DYSPLASIA 2
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(OMIM:615415)
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Short-rib thoracic dysplasia 2 with or without polydactyly
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(OMIM:611263)
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Short-rib thoracic dysplasia 3 with or without polydactyly
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(OMIM:613091)
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Short-rib thoracic dysplasia 8 with or without polydactyly
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(OMIM:615503)
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Spondyloepimetaphyseal dysplasia, Missouri type
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(Orphanet:93356)
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Spondylometaphyseal dysplasia - cone-rod dystrophy
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(Orphanet:85167)
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Stüve-Wiedemann syndrome
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(Orphanet:3206)
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VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B
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(OMIM:600081)
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VITAMIN D-DEPENDENT RICKETS, TYPE 2B, WITH NORMAL VITAMIN D RECEPTOR
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(OMIM:600785)
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Van den Ende-Gupta syndrome
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(Orphanet:2460)
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X-linked hypophosphatemia
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(Orphanet:89936)
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