Human Gene Set: HP_DUPLICATION_OF_THUMB_PHALANX


Standard name HP_DUPLICATION_OF_THUMB_PHALANX
Systematic name M37478
Brief description Duplication of thumb phalanx
Full description or abstract Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), 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. [https://orcid.org/0009-0006-4530-3154]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0009942
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External links https://hpo.jax.org/app/browse/term/HP:0009942
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Source species Homo sapiens
Contributed by Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace		 Human_NCBI_Gene_ID
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Version history 2023.1.Hs: Updated to HPO Release 2023-01-27.

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