Patellar aplasia

Symptom Information:

Symptom ID: HPO:0006443
Synonyms:
Absent patella [HPO:0006443]
Absent patellae [HPO:0006443]
Absent patellas [HPO:0006443]
Aplastic patellae [HPO:0006443]
Patella absence [Orphanet:21240]
Congenital absence of patella [HPO:0006443]
Absent patella (finding) [Orphanet:21240]
Congenital absence of patella (disorder) [Orphanet:21240]
Patella aplasia-hypoplasia [Orphanet:21240]
Congenital absence of patella [Orphanet:21240]
Absent patella [OMIM:Absent patella]
Absent patellae [OMIM:Absent patellae]
Absent patellas [OMIM:Absent patellas]
Aplastic patellae [OMIM:Aplastic patellae]
Patellar aplasia [OMIM:Patellar aplasia]
Patella absent/abnormal (excluding luxation) [Orphanet:21240]
Quality:
Cross references:
HPO:0006498 "Aplasia/Hypoplasia of the patella" [Orphanet:21240]
Orphanet:21240 "Patella absent/abnormal (excluding luxation)" [Orphanet:21240]
OMIM: "Absent patella" [OMIM:Absent patella]
OMIM: "Absent patellae" [OMIM:Absent patellae]
OMIM: "Absent patellas" [OMIM:Absent patellas]
OMIM: "Aplastic patellae" [OMIM:Aplastic patellae]
OMIM: "Patellar aplasia" [OMIM:Patellar aplasia]
UMLS:C0586734 "Absent patella (finding)" [Orphanet:21240]
UMLS:C1868577 "Patella aplasia-hypoplasia" [Orphanet:21240]
UMLS:C0265667 "Congenital absence of patella" [Orphanet:21240]
Is a (Direct Parents):
Orphanet Abnormality of the lower limb
Orphanet Abnormality of the patella
HPO         Aplasia/Hypoplasia of the patella
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 the lower limb(HPO:0002814)
                      Abnormality of lower limb joint(HPO:0100491)
                         Abnormality of the knee(HPO:0002815)
                            Abnormality of the patella(HPO:0003045)
                               Aplasia/Hypoplasia of the patella(HPO:0006498)
                                  Patellar aplasia(HPO:0006443)
                      Aplasia/hypoplasia involving bones of the lower limbs(HPO:0006493)
                         Aplasia/Hypoplasia of the patella(HPO:0006498)
                            Patellar aplasia(HPO:0006443)
                   Aplasia/hypoplasia of the extremities(HPO:0009815)
                      Aplasia/hypoplasia involving bones of the lower limbs(HPO:0006493)
                         Aplasia/Hypoplasia of the patella(HPO:0006498)
                            Patellar aplasia(HPO:0006443)
             Abnormal joint morphology(HPO:0001367)
                Abnormality of lower limb joint(HPO:0100491)
                   Abnormality of the knee(HPO:0002815)
                      Abnormality of the patella(HPO:0003045)
                         Aplasia/Hypoplasia of the patella(HPO:0006498)
                            Patellar aplasia(HPO:0006443)
             Aplasia/hypoplasia involving the skeleton(HPO:0009115)
                Aplasia/hypoplasia of the extremities(HPO:0009815)
                   Aplasia/hypoplasia involving bones of the lower limbs(HPO:0006493)
                      Aplasia/Hypoplasia of the patella(HPO:0006498)
                         Patellar aplasia(HPO:0006443)
MedDRA:
Database Frequency: 14 / 7739
Resource:

All diseases associated with this symptom:

Arthrogryposis multiplex congenita (Orphanet:1037)
Autosomal recessive multiple pterygium syndrome (Orphanet:2990)
Coxo-podo-patellar syndrome (Orphanet:1509)
Fuhrmann syndrome (Orphanet:2854)
Genitopatellar syndrome (Orphanet:85201)
Laurin-Sandrow syndrome (Orphanet:2378)
MEIER-GORLIN SYNDROME 4 (OMIM:613804)
MEIER-GORLIN SYNDROME 5 (OMIM:613805)
Nail-patella syndrome (Orphanet:2614)
PATELLA APLASIA, COXA VARA, AND TARSAL SYNOSTOSIS (OMIM:168850)
Patella aplasia/hypoplasia (Orphanet:86789)
SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1 (OMIM:119100)
Thrombocytopenia - absent radius (Orphanet:3320)
Tibial aplasia - ectrodactyly (Orphanet:3329)