Absent knee epiphyses

Symptom Information:

Symptom ID: HPO:0006400
Synonyms:
Absent knee epiphyses [OMIM:Absent knee epiphyses]
Quality:
Cross references:
OMIM: "Absent knee epiphyses" [OMIM:Absent knee epiphyses]
Is a (Direct Parents):
HPO         Abnormality of the knee
HPO         Absent epiphyses
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)
             Abnormality of long bone morphology(HPO:0011314)
                Abnormality of epiphysis morphology(HPO:0005930)
                   Absent epiphyses(HPO:0010577)
                      Absent knee epiphyses(HPO:0006400)
             Abnormal joint morphology(HPO:0001367)
                Abnormality of lower limb joint(HPO:0100491)
                   Abnormality of the knee(HPO:0002815)
                      Absent knee epiphyses(HPO:0006400)
             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)
                            Absent knee epiphyses(HPO:0006400)
MedDRA:
Database Frequency: 2 / 7739
Resource:

All diseases associated with this symptom:

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 (Orphanet:2636)