Absent distal phalanges

Symptom Information:

Symptom ID: HPO:0005807
Synonyms:
Absent distal phalanges [OMIM:Absent distal phalanges]
Absent distal phalanx [OMIM:Absent distal phalanx]
Quality:
Cross references:
OMIM: "Absent distal phalanges" [OMIM:Absent distal phalanges]
OMIM: "Absent distal phalanx" [OMIM:Absent distal phalanx]
Is a (Direct Parents):
HPO         Aplasia/Hypoplasia of the distal phalanges of the hand
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)
                   Abnormality of digit(HPO:0011297)
                      Abnormality of finger(HPO:0001167)
                         Abnormality of phalanx of finger(HPO:0005918)
                            Aplasia/Hypoplasia of the phalanges of the hand(HPO:0009767)
                               Aplasia/Hypoplasia of the distal phalanges of the hand(HPO:0009835)
                                  Absent distal phalanges(HPO:0005807)
                            Abnormality of the distal phalanx of finger(HPO:0009832)
                               Aplasia/Hypoplasia of the distal phalanges of the hand(HPO:0009835)
                                  Absent distal phalanges(HPO:0005807)
                   Abnormality of the upper limb(HPO:0002817)
                      Abnormality of the hand(HPO:0001155)
                         Abnormality of finger(HPO:0001167)
                            Abnormality of phalanx of finger(HPO:0005918)
                               Aplasia/Hypoplasia of the phalanges of the hand(HPO:0009767)
                                  Aplasia/Hypoplasia of the distal phalanges of the hand(HPO:0009835)
                                     Absent distal phalanges(HPO:0005807)
                               Abnormality of the distal phalanx of finger(HPO:0009832)
                                  Aplasia/Hypoplasia of the distal phalanges of the hand(HPO:0009835)
                                     Absent distal phalanges(HPO:0005807)
MedDRA:
Database Frequency: 4 / 7739
Resource:

All diseases associated with this symptom:

Coloboma of macula - brachydactyly type B (Orphanet:1471)
LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Multiple synostoses syndrome (Orphanet:3237)