Absent proximal phalanx of thumb

Symptom Information:

Symptom ID: HPO:0009637
Synonyms:
Absent ossification/absent proximal thumb phalanx [HPO:0009637]
Aplasia of the proximal phalanx of the thumb [HPO:0009637]
Quality:
Cross references:
Is a (Direct Parents):
HPO         Aplasia of the middle phalanx of the hand
HPO         Aplasia/Hypoplasia of the proximal phalanx of the thumb
HPO         Partial absence of thumb
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the skeletal system(HPO:0000924)
          Abnormality of skeletal morphology(HPO:0011842)
             Abnormal appendicular skeleton morphology(HPO:0011844)
                Abnormality of limb bone morphology(HPO:0002813)
                   Aplasia/hypoplasia of the extremities(HPO:0009815)
                      Aplasia/hypoplasia involving bones of the upper limbs(HPO:0006496)
                         Aplasia/hypoplasia involving bones of the hand(HPO:0005927)
                            Aplasia/Hypoplasia of fingers(HPO:0006265)
                               Aplasia/Hypoplasia of the thumb(HPO:0009601)
                                  Partial absence of thumb(HPO:0009659)
                                     Absent proximal phalanx of thumb(HPO:0009637)
                               Aplasia of the fingers(HPO:0009380)
                                  Aplasia of the middle phalanx of the hand(HPO:0010239)
                                     Absent proximal phalanx of thumb(HPO:0009637)
                   Abnormality of the upper limb(HPO:0002817)
                      Aplasia/hypoplasia involving bones of the upper limbs(HPO:0006496)
                         Aplasia/hypoplasia involving bones of the hand(HPO:0005927)
                            Aplasia/Hypoplasia of fingers(HPO:0006265)
                               Aplasia/Hypoplasia of the thumb(HPO:0009601)
                                  Partial absence of thumb(HPO:0009659)
                                     Absent proximal phalanx of thumb(HPO:0009637)
                               Aplasia of the fingers(HPO:0009380)
                                  Aplasia of the middle phalanx of the hand(HPO:0010239)
                                     Absent proximal phalanx of thumb(HPO:0009637)
                      Abnormality of the hand(HPO:0001155)
                         Aplasia/hypoplasia involving bones of the hand(HPO:0005927)
                            Aplasia/Hypoplasia of fingers(HPO:0006265)
                               Aplasia/Hypoplasia of the thumb(HPO:0009601)
                                  Partial absence of thumb(HPO:0009659)
                                     Absent proximal phalanx of thumb(HPO:0009637)
                               Aplasia of the fingers(HPO:0009380)
                                  Aplasia of the middle phalanx of the hand(HPO:0010239)
                                     Absent proximal phalanx of thumb(HPO:0009637)
                         Abnormality of finger(HPO:0001167)
                            Aplasia/Hypoplasia of fingers(HPO:0006265)
                               Aplasia/Hypoplasia of the thumb(HPO:0009601)
                                  Partial absence of thumb(HPO:0009659)
                                     Absent proximal phalanx of thumb(HPO:0009637)
                               Aplasia of the fingers(HPO:0009380)
                                  Aplasia of the middle phalanx of the hand(HPO:0010239)
                                     Absent proximal phalanx of thumb(HPO:0009637)
                            Abnormality of phalanx of finger(HPO:0005918)
                               Aplasia/Hypoplasia of the phalanges of the hand(HPO:0009767)
                                  Aplasia/Hypoplasia of the middle phalanges of the hand(HPO:0009843)
                                     Aplasia of the middle phalanx of the hand(HPO:0010239)
                                        Absent proximal phalanx of thumb(HPO:0009637)
                                  Aplasia/Hypoplasia of the phalanges of the thumb(HPO:0009658)
                                     Partial absence of thumb(HPO:0009659)
                                        Absent proximal phalanx of thumb(HPO:0009637)
                                     Aplasia/Hypoplasia of the proximal phalanx of the thumb(HPO:0009629)
                                        Absent proximal phalanx of thumb(HPO:0009637)
                                  Aplasia of the phalanges of the hand(HPO:0009802)
                                     Aplasia of the middle phalanx of the hand(HPO:0010239)
                                        Absent proximal phalanx of thumb(HPO:0009637)
                               Triangular shaped phalanges of the hand(HPO:0009774)
                                  Abnormality of thumb phalanx(HPO:0009602)
                                     Aplasia/Hypoplasia of the phalanges of the thumb(HPO:0009658)
                                        Partial absence of thumb(HPO:0009659)
                                           Absent proximal phalanx of thumb(HPO:0009637)
                                        Aplasia/Hypoplasia of the proximal phalanx of the thumb(HPO:0009629)
                                           Absent proximal phalanx of thumb(HPO:0009637)
                                     Abnormality of the proximal phalanx of the thumb(HPO:0009618)
                                        Aplasia/Hypoplasia of the proximal phalanx of the thumb(HPO:0009629)
                                           Absent proximal phalanx of thumb(HPO:0009637)
                               Abnormality of the middle phalanges of the hand(HPO:0009833)
                                  Aplasia/Hypoplasia of the middle phalanges of the hand(HPO:0009843)
                                     Aplasia of the middle phalanx of the hand(HPO:0010239)
                                        Absent proximal phalanx of thumb(HPO:0009637)
                            Abnormality of the thumb(HPO:0001172)
                               Aplasia/Hypoplasia of the thumb(HPO:0009601)
                                  Partial absence of thumb(HPO:0009659)
                                     Absent proximal phalanx of thumb(HPO:0009637)
                               Abnormality of thumb phalanx(HPO:0009602)
                                  Aplasia/Hypoplasia of the phalanges of the thumb(HPO:0009658)
                                     Partial absence of thumb(HPO:0009659)
                                        Absent proximal phalanx of thumb(HPO:0009637)
                                     Aplasia/Hypoplasia of the proximal phalanx of the thumb(HPO:0009629)
                                        Absent proximal phalanx of thumb(HPO:0009637)
                                  Abnormality of the proximal phalanx of the thumb(HPO:0009618)
                                     Aplasia/Hypoplasia of the proximal phalanx of the thumb(HPO:0009629)
                                        Absent proximal phalanx of thumb(HPO:0009637)
                   Abnormality of digit(HPO:0011297)
                      Abnormality of finger(HPO:0001167)
                         Aplasia/Hypoplasia of fingers(HPO:0006265)
                            Aplasia/Hypoplasia of the thumb(HPO:0009601)
                               Partial absence of thumb(HPO:0009659)
                                  Absent proximal phalanx of thumb(HPO:0009637)
                            Aplasia of the fingers(HPO:0009380)
                               Aplasia of the middle phalanx of the hand(HPO:0010239)
                                  Absent proximal phalanx of thumb(HPO:0009637)
                         Abnormality of phalanx of finger(HPO:0005918)
                            Aplasia/Hypoplasia of the phalanges of the hand(HPO:0009767)
                               Aplasia/Hypoplasia of the middle phalanges of the hand(HPO:0009843)
                                  Aplasia of the middle phalanx of the hand(HPO:0010239)
                                     Absent proximal phalanx of thumb(HPO:0009637)
                               Aplasia/Hypoplasia of the phalanges of the thumb(HPO:0009658)
                                  Partial absence of thumb(HPO:0009659)
                                     Absent proximal phalanx of thumb(HPO:0009637)
                                  Aplasia/Hypoplasia of the proximal phalanx of the thumb(HPO:0009629)
                                     Absent proximal phalanx of thumb(HPO:0009637)
                               Aplasia of the phalanges of the hand(HPO:0009802)
                                  Aplasia of the middle phalanx of the hand(HPO:0010239)
                                     Absent proximal phalanx of thumb(HPO:0009637)
                            Triangular shaped phalanges of the hand(HPO:0009774)
                               Abnormality of thumb phalanx(HPO:0009602)
                                  Aplasia/Hypoplasia of the phalanges of the thumb(HPO:0009658)
                                     Partial absence of thumb(HPO:0009659)
                                        Absent proximal phalanx of thumb(HPO:0009637)
                                     Aplasia/Hypoplasia of the proximal phalanx of the thumb(HPO:0009629)
                                        Absent proximal phalanx of thumb(HPO:0009637)
                                  Abnormality of the proximal phalanx of the thumb(HPO:0009618)
                                     Aplasia/Hypoplasia of the proximal phalanx of the thumb(HPO:0009629)
                                        Absent proximal phalanx of thumb(HPO:0009637)
                            Abnormality of the middle phalanges of the hand(HPO:0009833)
                               Aplasia/Hypoplasia of the middle phalanges of the hand(HPO:0009843)
                                  Aplasia of the middle phalanx of the hand(HPO:0010239)
                                     Absent proximal phalanx of thumb(HPO:0009637)
                         Abnormality of the thumb(HPO:0001172)
                            Aplasia/Hypoplasia of the thumb(HPO:0009601)
                               Partial absence of thumb(HPO:0009659)
                                  Absent proximal phalanx of thumb(HPO:0009637)
                            Abnormality of thumb phalanx(HPO:0009602)
                               Aplasia/Hypoplasia of the phalanges of the thumb(HPO:0009658)
                                  Partial absence of thumb(HPO:0009659)
                                     Absent proximal phalanx of thumb(HPO:0009637)
                                  Aplasia/Hypoplasia of the proximal phalanx of the thumb(HPO:0009629)
                                     Absent proximal phalanx of thumb(HPO:0009637)
                               Abnormality of the proximal phalanx of the thumb(HPO:0009618)
                                  Aplasia/Hypoplasia of the proximal phalanx of the thumb(HPO:0009629)
                                     Absent proximal phalanx of thumb(HPO:0009637)
             Aplasia/hypoplasia involving the skeleton(HPO:0009115)
                Aplasia/hypoplasia of the extremities(HPO:0009815)
                   Aplasia/hypoplasia involving bones of the upper limbs(HPO:0006496)
                      Aplasia/hypoplasia involving bones of the hand(HPO:0005927)
                         Aplasia/Hypoplasia of fingers(HPO:0006265)
                            Aplasia/Hypoplasia of the thumb(HPO:0009601)
                               Partial absence of thumb(HPO:0009659)
                                  Absent proximal phalanx of thumb(HPO:0009637)
                            Aplasia of the fingers(HPO:0009380)
                               Aplasia of the middle phalanx of the hand(HPO:0010239)
                                  Absent proximal phalanx of thumb(HPO:0009637)
MedDRA:
Database Frequency: 1 / 7739
Resource:

All diseases associated with this symptom:

Lacrimo-auriculo-dento-digital syndrome (Orphanet:2363)