Dysostosis multiplex

Symptom Information:

Symptom ID: HPO:0000943
Synonyms:
Dysostosis [Orphanet:45210]
Dysostosis (disorder) [Orphanet:45210]
Dysostoses [Orphanet:45210]
Dysostosis multiplex [OMIM:Dysostosis multiplex]
Dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia [Orphanet:45210]
Congenital osteodystrophy [MedDRA:10010582]
Congenital osteodystrophies [MedDRA:10010582]
Congenital osteodystrophy, unspecified [MedDRA:10010582]
Other congenital osteodystrophies [MedDRA:10010582]
Dysostosis [MedDRA:10010582]
Dysostosis multiplex (type II, all types) [OMIM:Dysostosis multiplex (type II, all types)]
Osteodysplasia [Orphanet:45210]
Osteodysplasia (disorder) [Orphanet:45210]
Melnick-Needles syndrome (disorder) [Orphanet:45210]
Dyschondroplasia [MedDRA:10013891]
Chondrodysplasia [Orphanet:45210]
Chondrodysplasia (disorder) [Orphanet:45210]
Dyschondroplasias [Orphanet:45210]
Chondrodysplasia [OMIM:Chondrodysplasia]
Quality:
Cross references:
Orphanet:45210 "Dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia" [Orphanet:45210]
OMIM: "Dysostosis multiplex" [OMIM:Dysostosis multiplex]
OMIM: "Dysostosis multiplex (type II, all types)" [OMIM:Dysostosis multiplex (type II, all types)]
OMIM: "Chondrodysplasia" [OMIM:Chondrodysplasia]
UMLS:C0013393 "Dysostoses" [Orphanet:45210]
UMLS:C0410533 "Osteodysplasia" [Orphanet:45210]
UMLS:C0343284 "Chondrodysplasia" [Orphanet:45210]
UMLS:C0013366 "Dyschondroplasias" [Orphanet:45210]
Is a (Direct Parents):
Orphanet Abnormality of the skeletal system
MedDRA Non-site specific bone disorders congenital
HPO         Abnormality of skeletal morphology
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)
             Dysostosis multiplex(HPO:0000943)
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396)
       Non-site specific bone disorders congenital(MedDRA:10029509)
          Dysostosis multiplex(HPO:0000943)
Database Frequency: 22 / 7739
Resource:

All diseases associated with this symptom:

Alpha-mannosidosis (Orphanet:61)
Aspartylglucosaminuria (Orphanet:93)
Buschke-Ollendorff syndrome (Orphanet:1306)
Chondrodysplasia - disorder of sex development (Orphanet:1422)
Fucosidosis (Orphanet:349)
Galactosialidosis (Orphanet:351)
Hurler syndrome (Orphanet:93473)
Hurler-Scheie syndrome (Orphanet:93476)
MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
MUCOLIPIDOSIS III GAMMA (OMIM:252605)
Mucolipidosis type 3 (Orphanet:577)
Mucopolysaccharidosis type 1 (Orphanet:579)
Mucopolysaccharidosis type 2 (Orphanet:580)
Mucopolysaccharidosis type 3 (Orphanet:581)
Mucopolysaccharidosis type 6 (Orphanet:583)
Mucopolysaccharidosis type 7 (Orphanet:584)
Multiple sulfatase deficiency (Orphanet:585)
Sanfilippo syndrome type B (Orphanet:79270)
Sanfilippo syndrome type C (Orphanet:79271)
Sanfilippo syndrome type D (Orphanet:79272)
Scheie syndrome (Orphanet:93474)
Sialidosis type 1 (Orphanet:812)