Epiphyseal stippling

Symptom Information:

Symptom ID: HPO:0010655
Synonyms:
Epiphyseal punctate calcifications [HPO:0010655]
Stippled epiphyses [HPO:0010655]
Stippling of the epiphyses [HPO:0010655]
Punctate calcification of epiphysis [Orphanet:45810]
Chondrodysplasia punctata congenita (disorder) [Orphanet:45810]
Chondrodysplasia Punctata [Orphanet:45810]
Epiphyseal punctate calcifications [OMIM:Epiphyseal punctate calcifications]
Epiphyseal stippling [OMIM:Epiphyseal stippling]
Stippled epiphyses [OMIM:Stippled epiphyses]
Punctate epiphyses/epiphysis [Orphanet:45810]
Chondrodysplasia punctata [OMIM:Chondrodysplasia punctata]
Epiphyseal stippling (hips, distal and proximal humeri, proximal and distal femora, distal fibulae, proximal and distal tibiae, distal radii and ulnae) [OMIM:Epiphyseal stippling (hips, distal and proximal humeri, proximal and distal femora, distal fibulae, proximal and distal tibiae, distal radii and ulnae)]
Epiphyseal stippling (infancy) [OMIM:Epiphyseal stippling (infancy)]
Epiphyseal stippling (type II, congenital) [OMIM:Epiphyseal stippling (type II, congenital)]
Stippled epiphyses (especially patellar and acetabular regions) [OMIM:Stippled epiphyses (especially patellar and acetabular regions)]
Quality:
Cross references:
Orphanet:45810 "Punctate epiphyses/epiphysis" [Orphanet:45810]
OMIM: "Epiphyseal punctate calcifications" [OMIM:Epiphyseal punctate calcifications]
OMIM: "Epiphyseal stippling" [OMIM:Epiphyseal stippling]
OMIM: "Stippled epiphyses" [OMIM:Stippled epiphyses]
OMIM: "Chondrodysplasia punctata" [OMIM:Chondrodysplasia punctata]
OMIM: "Epiphyseal stippling (hips, distal and proximal humeri, proximal and distal femora, distal fibulae, proximal and distal tibiae, distal radii and ulnae)" [OMIM:Epiphyseal stippling (hips, distal and proximal humeri, proximal and distal femora, distal fibulae, proximal and distal tibiae, distal radii and ulnae)]
OMIM: "Epiphyseal stippling (infancy)" [OMIM:Epiphyseal stippling (infancy)]
OMIM: "Epiphyseal stippling (type II, congenital)" [OMIM:Epiphyseal stippling (type II, congenital)]
OMIM: "Stippled epiphyses (especially patellar and acetabular regions)" [OMIM:Stippled epiphyses (especially patellar and acetabular regions)]
UMLS:C0008445 "Chondrodysplasia Punctata" [Orphanet:45810]
Is a (Direct Parents):
HPO         Ectopic calcification
HPO         Abnormal epiphyseal ossification
Orphanet Abnormality of epiphysis morphology
HPO         Abnormality of epiphysis morphology
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the skeletal system(HPO:0000924)
          Ectopic calcification(HPO:0010766)
             Epiphyseal stippling(HPO:0010655)
          Abnormality of skeletal morphology(HPO:0011842)
             Abnormal bone structure(HPO:0003330)
                Abnormal bone ossification(HPO:0011849)
                   Abnormal epiphyseal ossification(HPO:0010656)
                      Epiphyseal stippling(HPO:0010655)
             Abnormality of long bone morphology(HPO:0011314)
                Abnormality of epiphysis morphology(HPO:0005930)
                   Epiphyseal stippling(HPO:0010655)
MedDRA:
Database Frequency: 32 / 7739
Resource:

All diseases associated with this symptom:

Autosomal dominant chondrodysplasia punctata (Orphanet:79344)
Brachytelephalangic chondrodysplasia punctata (Orphanet:79345)
CHILD syndrome (Orphanet:139)
CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE (OMIM:302950)
Chondrodysplasia punctata, tibial-metacarpal type (Orphanet:79346)
Embryofetopathy due to oral anticoagulant therapy (Orphanet:1914)
Generalized resistance to thyroid hormone (Orphanet:3221)
Greenberg dysplasia (Orphanet:1426)
Hereditary combined deficiency of vitamin K-dependent clotting factors (Orphanet:98434)
Keutel syndrome (Orphanet:85202)
Maxillo-nasal dysplasia (Orphanet:1248)
Mucopolysaccharidosis type 7 (Orphanet:584)
Non-rhizomelic chondrodysplasia punctata (Orphanet:176)
PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) (OMIM:614882)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
PEROXISOME BIOGENESIS DISORDER 1B (OMIM:601539)
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) (OMIM:614859)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) (OMIM:614862)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) (OMIM:614870)
PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER) (OMIM:614872)
PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER) (OMIM:614876)
Pacman dysplasia (Orphanet:1952)
Rhizomelic chondrodysplasia punctata (Orphanet:177)
Rhizomelic chondrodysplasia punctata type 3 (Orphanet:309803)
Sialidosis type 1 (Orphanet:812)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification (Orphanet:93358)
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE (OMIM:274300)
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 (OMIM:277450)
X-linked dominant chondrodysplasia punctata (Orphanet:35173)
Zellweger syndrome (Orphanet:912)