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OMIM ID
250460
OMIM term:
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS
Alternative terms:
CARTILAGE-HAIR HYPOPLASIA-LIKE SKELETAL DYSPLASIA WITHOUT HYPOTRICHOSIS OR IMMUNODEFICIENCY
CARTILAGE-HAIR HYPOPLASIA VARIANT, SKELETAL MANIFESTATIONS ONLY; CHHV
(∗) Location:
9p13.3
(†) Associated OMIM genes:
RMRP
(‡) Associated MGI genes:
Mouse
Zebrafish
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