loading...| Preferred Name |
Cerebro-oculo-facio-skeletal syndrome 1 |
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| Synonyms |
COFS1 |
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| Definitions |
(COFS1) - A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome. |
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| ID |
http://identifiers.org/omim/214150 |
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| altLabel |
COFS1 |
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| definition |
(COFS1) - A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome. |
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| id |
OMIM:214150 |
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| notation |
OMIM:214150 |
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| prefLabel |
Cerebro-oculo-facio-skeletal syndrome 1 |
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| subClassOf |