Osteopetrosis

Symptom Information:

Symptom ID: HPO:0011002
Synonyms:
Albers-Schonberg disease [HPO:0011002]
Marble bone disease [HPO:0011002]
Osteosclerosis/osteopetrosis/bone condensation [Orphanet:45120]
Osteopetrosis (in severe cases) [OMIM:Osteopetrosis (in severe cases)]
Bone compression [Orphanet:45120]
Osteopetrosis [MedDRA:10031280]
Quality:
Cross references:
HPO:0011001 "Increased bone mineral density" [Orphanet:45120]
Orphanet:45120 "Osteosclerosis/osteopetrosis/bone condensation" [Orphanet:45120]
OMIM: "Osteopetrosis (in severe cases)" [OMIM:Osteopetrosis (in severe cases)]
Is a (Direct Parents):
Orphanet Increased bone mineral density
MedDRA Non-site specific bone disorders congenital
Orphanet Abnormality of the skeletal system
HPO         Increased bone mineral density
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 bone structure(HPO:0003330)
                Abnormality of bone mineral density(HPO:0004348)
                   Increased bone mineral density(HPO:0011001)
                      Osteopetrosis(HPO:0011002)
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396)
       Non-site specific bone disorders congenital(MedDRA:10029509)
          Osteopetrosis(HPO:0011002)
Database Frequency: 19 / 7739
Resource:

All diseases associated with this symptom:

Albers-Schönberg osteopetrosis (Orphanet:53)
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema (Orphanet:69088)
Autosomal dominant osteopetrosis type 1 (Orphanet:2783)
Autosomal recessive malignant osteopetrosis (Orphanet:667)
Buschke-Ollendorff syndrome (Orphanet:1306)
Gaucher disease (Orphanet:355)
Gaucher disease type 1 (Orphanet:77259)
Gaucher disease type 3 (Orphanet:77261)
Infantile osteopetrosis with neuroaxonal dysplasia (Orphanet:85179)
Intermediate osteopetrosis (Orphanet:210110)
Leukocyte adhesion deficiency type III (Orphanet:99844)
OSTEOPETROSIS AND INFANTILE NEUROAXONAL DYSTROPHY (OMIM:600329)
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4 (OMIM:611490)
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 (OMIM:259710)
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 (OMIM:615085)
Osteopetrosis - hypogammaglobulinemia (Orphanet:178389)
Osteopetrosis with renal tubular acidosis (Orphanet:2785)
Primary hyperoxaluria type 1 (Orphanet:93598)
Werner syndrome (Orphanet:902)