Metaphyseal dysplasia

Symptom Information:

Symptom ID: HPO:0100255
Synonyms:
Metaphyseal anomaly [Orphanet:45720]
Metaphyseal dysplasia [OMIM:Metaphyseal dysplasia]
Metaphyseal dysplasia [MedDRA:10066147]
Quality:
Cross references:
HPO:0000944 "Abnormality of the metaphyses" [Orphanet:45720]
Orphanet:45720 "Metaphyseal anomaly" [Orphanet:45720]
OMIM: "Metaphyseal dysplasia" [OMIM:Metaphyseal dysplasia]
Is a (Direct Parents):
HPO         Skeletal dysplasia
Orphanet Abnormality of the skeletal system
MedDRA Musculoskeletal disorders congenital NEC
HPO         Abnormality of the metaphyses
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)
                   Abnormality of the metaphyses(HPO:0000944)
                      Metaphyseal dysplasia(HPO:0100255)
             Skeletal dysplasia(HPO:0002652)
                Metaphyseal dysplasia(HPO:0100255)
             Abnormality of long bone morphology(HPO:0011314)
                Abnormality of the metaphyses(HPO:0000944)
                   Metaphyseal dysplasia(HPO:0100255)
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396)
       Musculoskeletal disorders congenital NEC(MedDRA:10029513)
          Metaphyseal dysplasia(HPO:0100255)
Database Frequency: 26 / 7739
Resource:

All diseases associated with this symptom:

Buschke-Ollendorff syndrome (Orphanet:1306)
CODAS syndrome (Orphanet:1458)
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:218400)
Cartilage-hair hypoplasia (Orphanet:175)
Hall-Riggs syndrome (Orphanet:2107)
IMAGe syndrome (Orphanet:85173)
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS (OMIM:250460)
METAPHYSEAL DYSPLASIA, ANETODERMA, AND OPTIC ATROPHY (OMIM:250450)
MOVED TO 614732 (OMIM:300290)
Menkes disease (Orphanet:565)
Metaphyseal chondrodysplasia - retinitis pigmentosa (Orphanet:166035)
Metaphyseal chondrodysplasia, Kaitila type (Orphanet:166038)
Metaphyseal chondrodysplasia, Spahr type (Orphanet:2501)
Metaphyseal dysostosis - intellectual deficit - conductive deafness (Orphanet:2502)
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty (Orphanet:2504)
Micromelic dwarfism, Fryns type (Orphanet:2641)
Microspherophakia - metaphyseal dysplasia (Orphanet:2551)
OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA (OMIM:615198)
Pyle disease (Orphanet:3005)
Short rib-polydactyly syndrome, Saldino-Noonan type (Orphanet:93270)
Short-rib thoracic dysplasia 6 with or without polydactyly (OMIM:263520)
Spondylo-megaepiphyseal-metaphyseal dysplasia (Orphanet:228387)
Spondyloepimetaphyseal dysplasia, Irapa type (Orphanet:93351)
Spondylometaphyseal dysplasia, Schmidt type (Orphanet:93316)
TMEM165-CDG (Orphanet:314667)
Wolcott-Rallison syndrome (Orphanet:1667)