Buschke-Ollendorff syndrome
|
(Orphanet:1306)
|
CODAS syndrome
|
(Orphanet:1458)
|
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE
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(OMIM:218400)
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Cartilage-hair hypoplasia
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(Orphanet:175)
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Hall-Riggs syndrome
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(Orphanet:2107)
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IMAGe syndrome
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(Orphanet:85173)
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METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS
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(OMIM:250460)
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METAPHYSEAL DYSPLASIA, ANETODERMA, AND OPTIC ATROPHY
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(OMIM:250450)
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MOVED TO 614732
|
(OMIM:300290)
|
Menkes disease
|
(Orphanet:565)
|
Metaphyseal chondrodysplasia - retinitis pigmentosa
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(Orphanet:166035)
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Metaphyseal chondrodysplasia, Kaitila type
|
(Orphanet:166038)
|
Metaphyseal chondrodysplasia, Spahr type
|
(Orphanet:2501)
|
Metaphyseal dysostosis - intellectual deficit - conductive deafness
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(Orphanet:2502)
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Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
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(Orphanet:2504)
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Micromelic dwarfism, Fryns type
|
(Orphanet:2641)
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Microspherophakia - metaphyseal dysplasia
|
(Orphanet:2551)
|
OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA
|
(OMIM:615198)
|
Pyle disease
|
(Orphanet:3005)
|
Short rib-polydactyly syndrome, Saldino-Noonan type
|
(Orphanet:93270)
|
Short-rib thoracic dysplasia 6 with or without polydactyly
|
(OMIM:263520)
|
Spondylo-megaepiphyseal-metaphyseal dysplasia
|
(Orphanet:228387)
|
Spondyloepimetaphyseal dysplasia, Irapa type
|
(Orphanet:93351)
|
Spondylometaphyseal dysplasia, Schmidt type
|
(Orphanet:93316)
|
TMEM165-CDG
|
(Orphanet:314667)
|
Wolcott-Rallison syndrome
|
(Orphanet:1667)
|