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142700
HIP, DISLOCATION OF, CONGENITAL
601450 DISLOCATION OF THE HIP, CONGENITAL,
WITH HYPEREXTENSIBILITY OF FINGERS AND FACIAL
DYSMORPHISM
*120160
COLLAGEN, TYPE I, ALPHA-2; COL1A2
*310200
MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC
PROGRESSIVE, DUCHENNE AND BECKER TYPES
*219200
CUTIS LAXA WITH BONE DYSTROPHY
*252500
MUCOLIPIDOSIS II; ML2; ML II
#177170
PSEUDOACHONDROPLASTIC DYSPLASIA
*121050
CONTRACTURAL ARACHNODACTYLY, CONGENITAL;
CCA
*150240
LAMININ, BETA-1; LAMB1
#149400
KOK DISEASE
255310 MYOPATHY, CONGENITAL, WITH FIBER-TYPE
DISPROPORTION
269880 SHORT SYNDROME
*219100
CUTIS LAXA
*184100
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA
*153454
PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE
5-DIOXYGENASE; PLOD
*106300
ANKYLOSING SPONDYLITIS; AS
100100 ABDOMINAL MUSCLES, ABSENCE OF, WITH
URINARY TRACT ABNORMALITY AND CRYPTORCHIDISM
*245600
LARSEN SYNDROME, RECESSIVE
270240 SKELETAL DYSPLASIA WITH TELANGIECTASES
AND MESODERMAL DYSGENESIS OF THE IRIS
#130060
EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL
DOMINANT
*600536
INTEGRIN, ALPHA-7; ITGA7
*147900
JOINT LAXITY, FAMILIAL
*231070
GERODERMA OSTEODYSPLASTICA; GO
*216340
CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA,
ABSENT THUMBS, AND DISTAL APHALANGIA
*271640
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT
LAXITY; SEMDJL
*251450
MICROMELIC DWARFISM WITH VERTEBRAL AND
METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL
OSSIFICATION
228930 FIBULAR APLASIA OR HYPOPLASIA, FEMORAL
BOWING AND POLY-, SYN-, AND OLIGODACTYLY
254090 MUSCULAR DYSTROPHY, SCLEROATONIC
210550 BILIARY MALFORMATION WITH RENAL TUBULAR
INSUFFICIENCY
#182230
SEPTOOPTIC DYSPLASIA
150600 LEGG-CALVE-PERTHES DISEASE
108130 ARTHROGRYPOSIS MULTIPLEX CONGENITA,
DISTAL, TYPE II
*108120
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL,
TYPE 1; AMCD1
107000 ANONYCHIA-ONYCHODYSTROPHY
603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH
MULTIPLE DISLOCATIONS
260660 PELVISCAPULAR DYSPLASIA
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