Absent thumb

Symptom Information:

Symptom ID: HPO:0009777
Synonyms:
Absent thumbs [HPO:0009777]
Aplasia of the thumb [HPO:0009777]
Thumb aplasia [HPO:0009777]
Thumb absent [HPO:0009777]
Hypoplasia of thumb (disorder) [Orphanet:20680]
Thumb absent (finding) [Orphanet:20680]
Hypoplasia of thumb [Orphanet:20680]
Thumb absent [Orphanet:20680]
Absent thumb [OMIM:Absent thumb]
Absent thumbs [OMIM:Absent thumbs]
Thumb aplasia [OMIM:Thumb aplasia]
Thumb hypoplasia/aplasia/absence [Orphanet:20680]
Absent thumb(s) [OMIM:Absent thumb(s)]
Absent thumbs (1 patient) [OMIM:Absent thumbs (1 patient)]
Thumb aplasia (in some patients) [OMIM:Thumb aplasia (in some patients)]
Quality:
Cross references:
HPO:0009601 "Aplasia/Hypoplasia of the thumb" [Orphanet:20680]
HPO:0005834 "Thumbs hypo/aplastic" [Orphanet:20680]
Orphanet:20680 "Thumb hypoplasia/aplasia/absence" [Orphanet:20680]
OMIM: "Absent thumb" [OMIM:Absent thumb]
OMIM: "Absent thumbs" [OMIM:Absent thumbs]
OMIM: "Thumb aplasia" [OMIM:Thumb aplasia]
OMIM: "Absent thumb(s)" [OMIM:Absent thumb(s)]
OMIM: "Absent thumbs (1 patient)" [OMIM:Absent thumbs (1 patient)]
OMIM: "Thumb aplasia (in some patients)" [OMIM:Thumb aplasia (in some patients)]
UMLS:C0431890 "Hypoplasia of thumb" [Orphanet:20680]
UMLS:C0241391 "Thumb absent" [Orphanet:20680]
Is a (Direct Parents):
HPO         Aplasia/Hypoplasia of the thumb
HPO         Aplasia of the fingers
Orphanet Abnormality 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)
             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 of the fingers(HPO:0009380)
                               Absent thumb(HPO:0009777)
                            Aplasia/Hypoplasia of the thumb(HPO:0009601)
                               Absent thumb(HPO:0009777)
             Abnormal appendicular skeleton morphology(HPO:0011844)
                Abnormality of limb bone morphology(HPO:0002813)
                   Abnormality of the upper limb(HPO:0002817)
                      Abnormality of the hand(HPO:0001155)
                         Aplasia/hypoplasia involving bones of the hand(HPO:0005927)
                            Aplasia/Hypoplasia of fingers(HPO:0006265)
                               Aplasia of the fingers(HPO:0009380)
                                  Absent thumb(HPO:0009777)
                               Aplasia/Hypoplasia of the thumb(HPO:0009601)
                                  Absent thumb(HPO:0009777)
                         Abnormality of finger(HPO:0001167)
                            Aplasia/Hypoplasia of fingers(HPO:0006265)
                               Aplasia of the fingers(HPO:0009380)
                                  Absent thumb(HPO:0009777)
                               Aplasia/Hypoplasia of the thumb(HPO:0009601)
                                  Absent thumb(HPO:0009777)
                            Abnormality of the thumb(HPO:0001172)
                               Aplasia/Hypoplasia of the thumb(HPO:0009601)
                                  Absent thumb(HPO:0009777)
                      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 of the fingers(HPO:0009380)
                                  Absent thumb(HPO:0009777)
                               Aplasia/Hypoplasia of the thumb(HPO:0009601)
                                  Absent thumb(HPO:0009777)
                   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 of the fingers(HPO:0009380)
                                  Absent thumb(HPO:0009777)
                               Aplasia/Hypoplasia of the thumb(HPO:0009601)
                                  Absent thumb(HPO:0009777)
                   Abnormality of digit(HPO:0011297)
                      Abnormality of finger(HPO:0001167)
                         Aplasia/Hypoplasia of fingers(HPO:0006265)
                            Aplasia of the fingers(HPO:0009380)
                               Absent thumb(HPO:0009777)
                            Aplasia/Hypoplasia of the thumb(HPO:0009601)
                               Absent thumb(HPO:0009777)
                         Abnormality of the thumb(HPO:0001172)
                            Aplasia/Hypoplasia of the thumb(HPO:0009601)
                               Absent thumb(HPO:0009777)
MedDRA:
Database Frequency: 31 / 7739
Resource:

All diseases associated with this symptom:

Absent thumb - short stature - immunodeficiency (Orphanet:2951)
Acro-renal-ocular syndrome (Orphanet:959)
Bartsocas-Papas syndrome (Orphanet:1234)
Blackfan-Diamond anemia (Orphanet:124)
CRANIOSYNOSTOSIS WITH ANOMALIES OF THE CRANIAL BASE AND DIGITS (OMIM:218530)
DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
DIAMOND-BLACKFAN ANEMIA 11 (OMIM:614900)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
FANCONI ANEMIA, COMPLEMENTATION GROUP C (OMIM:227645)
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 (OMIM:227646)
FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
FANCONI ANEMIA, COMPLEMENTATION GROUP L (OMIM:614083)
FANCONI ANEMIA, COMPLEMENTATION GROUP O (OMIM:613390)
FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
FANCONI ANEMIA, COMPLEMENTATION GROUP Q (OMIM:615272)
Fanconi anemia (Orphanet:84)
Holt-Oram syndrome (Orphanet:392)
IVIC syndrome (Orphanet:2307)
Microgastria - limb reduction defect (Orphanet:2538)
Nager syndrome (Orphanet:245)
Okihiro syndrome (Orphanet:93293)
RAPADILINO syndrome (Orphanet:3021)
Radio-renal syndrome (Orphanet:3015)
SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION (OMIM:612447)
VACTERL ASSOCIATION WITH HYDROCEPHALUS (OMIM:276950)
VACTERL with hydrocephalus (Orphanet:3412)
VENTRICULOMEGALY WITH DEFECTS OF THE RADIUS AND KIDNEY (OMIM:602200)
WEYERS ULNAR RAY/OLIGODACTYLY SYNDROME (OMIM:602418)
WT limb-blood syndrome (Orphanet:3466)
Yunis-Varon syndrome (Orphanet:3472)