Aplasia/Hypoplasia of the patella

Symptom Information:

Symptom ID: HPO:0006498
Synonyms:
Absent or hypoplastic patellae [HPO:0006498]
Absent/hypoplastic patella [HPO:0006498]
Aplastic or hypoplastic patellae [HPO:0006498]
Hypoplastic or absent patella [HPO:0006498]
Patellar aplasia/hypoplasia [HPO:0006498]
Small to absent patellae [HPO:0006498]
Patella absence [Orphanet:21240]
Absent patella (finding) [Orphanet:21240]
Congenital absence of patella (disorder) [Orphanet:21240]
Patella aplasia-hypoplasia [Orphanet:21240]
Congenital absence of patella [Orphanet:21240]
Absent or hypoplastic patellae [OMIM:Absent or hypoplastic patellae]
Absent/hypoplastic patella [OMIM:Absent/hypoplastic patella]
Aplastic or hypoplastic patellae [OMIM:Aplastic or hypoplastic patellae]
Patellar aplasia/hypoplasia [OMIM:Patellar aplasia/hypoplasia]
Small to absent patellae [OMIM:Small to absent patellae]
Patella absent/abnormal (excluding luxation) [Orphanet:21240]
Absent or hypoplastic patellae (in some patients) [OMIM:Absent or hypoplastic patellae (in some patients)]
Hypoplastic or absent patella (60-90%) [OMIM:Hypoplastic or absent patella (60-90%)]
Quality:
Cross references:
HPO:0006443 "Patellar aplasia" [Orphanet:21240]
Orphanet:21240 "Patella absent/abnormal (excluding luxation)" [Orphanet:21240]
OMIM: "Absent or hypoplastic patellae" [OMIM:Absent or hypoplastic patellae]
OMIM: "Absent/hypoplastic patella" [OMIM:Absent/hypoplastic patella]
OMIM: "Aplastic or hypoplastic patellae" [OMIM:Aplastic or hypoplastic patellae]
OMIM: "Patellar aplasia/hypoplasia" [OMIM:Patellar aplasia/hypoplasia]
OMIM: "Small to absent patellae" [OMIM:Small to absent patellae]
OMIM: "Absent or hypoplastic patellae (in some patients)" [OMIM:Absent or hypoplastic patellae (in some patients)]
OMIM: "Hypoplastic or absent patella (60-90%)" [OMIM:Hypoplastic or absent patella (60-90%)]
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         Abnormality of the patella
HPO         Aplasia/hypoplasia involving bones of the lower limbs
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 lower limbs(HPO:0006493)
                         Aplasia/Hypoplasia of the patella(HPO:0006498)
                   Abnormality of the lower limb(HPO:0002814)
                      Aplasia/hypoplasia involving bones of the lower limbs(HPO:0006493)
                         Aplasia/Hypoplasia of the patella(HPO:0006498)
                      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)
             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)
             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)
MedDRA:
Database Frequency: 10 / 7739
Resource:

All diseases associated with this symptom:

Acromesomelic dysplasia, Grebe type (Orphanet:2098)
Aniridia - absent patella (Orphanet:1069)
COFFIN-SIRIS SYNDROME (OMIM:135900)
Coffin-Siris syndrome (Orphanet:1465)
Ear-patella-short stature syndrome (Orphanet:2554)
MEIER-GORLIN SYNDROME 1 (OMIM:224690)
MEIER-GORLIN SYNDROME 2 (OMIM:613800)
MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Nail-patella syndrome (Orphanet:2614)
RAPADILINO syndrome (Orphanet:3021)