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Ontology Browser

Term:
Metaphyseal Dysplasia with Maxillary Hypoplasia with or without Brachydactyly (DOID:9004088)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0)
Parent Terms Term With Siblings Child Terms
Metaphyseal Dysplasia with Maxillary Hypoplasia with or without Brachydactyly 
Metaphyseal dysplasia and maxillary hypoplasia with or without brachydactyly (MDMHB) is an autosomal dominant bone dysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth. MDMHB) is caused by heterozygous duplication resulting in a gain of function in the RUNX2 gene on chromosome 6p21. (OMIM)

Synonyms
Exact Synonyms: MDMHB
Replaced By: DOID:0111513

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.