|Dataset||HPO Gene-Disease Associations|
|Category||disease or phenotype associations|
|Description||This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. (Human Phenotype Ontology, HP_0009629)|
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4 genes associated with the aplasia/hypoplasia of the proximal phalanx of the thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.