ACHONDROGENESIS, TYPE II
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ALPORT SYNDROME, AUTOSOMAL DOMINANT
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ALPORT SYNDROME, AUTOSOMAL DOMINANT (APSAD)
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ALPORT SYNDROME, AUTOSOMAL RECESSIVE
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ALPORT SYNDROME, AUTOSOMAL RECESSIVE (APSAR)
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ALPORT SYNDROME, X-LINKED
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ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS
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AVASCULAR NECROSIS OF THE FEMORAL HEAD, PRIMARY
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BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA, INCLUDED
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BETHLEM MYOPATHY
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BETHLEM MYOPATHY, AUTOSOMAL RECESSIVE
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BRAIN SMALL VESSEL DISEASE WITH AXENFELD-RIEGER ANOMALY
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BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE
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CAFFEY DISEASE
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CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1
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CORNEAL DYSTROPHY, POLYMORPHOUS POSTERIOR, 2, INCLUDED
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DEAFNESS, AUTOSOMAL DOMINANT 13
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DEAFNESS, AUTOSOMAL RECESSIVE 53
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ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED
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EHLERS-DANLOS SYNDROME, TYPE I
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EHLERS-DANLOS SYNDROME, TYPE II
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EHLERS-DANLOS SYNDROME, TYPE III
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EHLERS-DANLOS SYNDROME, TYPE IV
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EHLERS-DANLOS SYNDROME, TYPE IV, VARIANT
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ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY
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EPIDERMOLYSIS BULLOS
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EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE
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EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT
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EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE
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EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA
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EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE
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EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT
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EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL RECESSIVE
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EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, INCLUDED
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EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE
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EPIDERMOLYSIS BULLOSA, PRETIBIAL
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EPIDERMOLYSIS BULLOSA, PRETIBIAL, AUTOSOMAL RECESSIVE
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EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS
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FIBROCHONDROGENESIS
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HEMATURIA, BENIGN FAMILIAL
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HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO
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HYPOCHONDROGENESIS
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LEGG-CALVE-PERTHES DISEASE, INCLUDED
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MANNOSE-BINDING PROTEIN DEFICIENCY
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MARSHALL/STICKLER SYNDROME
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NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8, INCLUDED
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NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8, INCLUDED;;
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OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA
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OSTEOARTHRITIS WITH MILD SPONDYLOEPIPHYSEAL DYSPLASIA, INCLUDED
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OSTEOGENESIS IMPERFECTA
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OSTEOGENESIS IMPERFECTA 1 (OI1)
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OSTEOGENESIS IMPERFECTA 2 (OI2)
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OSTEOGENESIS IMPERFECTA 3 (OI3)
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OSTEOGENESIS IMPERFECTA, TYPE I
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OSTEOGENESIS IMPERFECTA, TYPE II
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OSTEOGENESIS IMPERFECTA, TYPE IIA
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OSTEOGENESIS IMPERFECTA, TYPE IIC
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OSTEOGENESIS IMPERFECTA, TYPE III
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OSTEOGENESIS IMPERFECTA, TYPE IV
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OSTEOPOROSIS, POSTMENOPAUSAL
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OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, HETEROZYGOUS, INCLUDED
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PORENCEPHALY 1
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PORENCEPHALY 1 (POREN1)
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PORENCEPHALY 2
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PRENATAL CORTICAL HYPEROSTOSIS, LETHAL, INCLUDED
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PROSTATE CANCER
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RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
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RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT
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RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT, INCLUDED
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SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE
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SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
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STICKLER SYNDROME, TYPE I
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STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR
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STICKLER SYNDROME, TYPE III
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STICKLER SYNDROME, TYPE IV
|
TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN
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ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
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ULLRICH CONGENITAL MUSCULAR DYSTROPHY, DIGENIC, COL6A1/COL6A2
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VARIANT
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VARIANT OF UNKNOWN SIGNIFICANCE
|
VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA
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WEISSENBACHER-ZWEYMULLER SYNDROME
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WEISSENBACHER-ZWEYMULLER SYNDROME, AUTOSOMAL RECESSIVE
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