AARSKOG-SCOTT SYNDROME
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(OMIM:305400)
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Acro-osteolysis-keloid-like lesions-premature aging syndrome
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(Orphanet:363665)
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Alkaptonuria
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(Orphanet:56)
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Apert syndrome
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(Orphanet:87)
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Autosomal dominant osteosclerosis, Worth type
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(Orphanet:2790)
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Autosomal dominant severe congenital neutropenia
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(Orphanet:486)
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COMBINED INFLAMMATORY AND IMMUNOLOGIC DEFECT
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(OMIM:216920)
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CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
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(OMIM:219900)
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Cardiodysrhythmic potassium-sensitive periodic paralysis
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(Orphanet:37553)
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Cat-eye syndrome
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(Orphanet:195)
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Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
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(Orphanet:90794)
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Classic maple syrup urine disease
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(Orphanet:268145)
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Complete androgen insensitivity syndrome
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(Orphanet:99429)
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Cortical blindness - intellectual deficit - polydactyly
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(Orphanet:1389)
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Czech dysplasia, metatarsal type
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(Orphanet:137678)
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EPIPHYSEAL DYSPLASIA, BAUMANN TYPE
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(OMIM:610797)
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Familial isolated dilated cardiomyopathy
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(Orphanet:154)
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Familial osteochondritis dissecans
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(Orphanet:251262)
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GROWTH CONTROL, Y-CHROMOSOME INFLUENCED
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(OMIM:475000)
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HOOFT DISEASE
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(OMIM:236300)
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Ichthyosis-hypotrichosis syndrome
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(Orphanet:91132)
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Keutel syndrome
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(Orphanet:85202)
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LATERALITY DEFECTS, AUTOSOMAL DOMINANT
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(OMIM:601086)
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MARFANOID HYPERMOBILITY SYNDROME
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(OMIM:154750)
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MELAS
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(Orphanet:550)
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MUCOPOLYSACCHARIDOSES, UNCLASSIFIED TYPES
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(OMIM:252700)
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Mucopolysaccharidosis type 3
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(Orphanet:581)
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Osteogenesis imperfecta type 1
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(Orphanet:216796)
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PREMATURE AGING SYNDROME, OKAMOTO TYPE
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(OMIM:601811)
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Pseudoleprechaunism syndrome, Patterson type
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(Orphanet:2976)
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Sanfilippo syndrome type C
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(Orphanet:79271)
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Sanfilippo syndrome type D
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(Orphanet:79272)
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THYMIC APLASIA WITH FETAL DEATH
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(OMIM:274210)
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Verloove Vanhorick-Brubakk syndrome
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(Orphanet:3429)
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X-linked intellectual deficit with marfanoid habitus
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(Orphanet:776)
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Zimmermann-Laband syndrome
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(Orphanet:3473)
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