Skeletal dysplasia
Symptom Information:
Symptom ID: | HPO:0002652 | ||||||||||||||||||||||||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): |
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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) Skeletal dysplasia(HPO:0002652) MedDRA: Musculoskeletal and connective tissue disorders(MedDRA:10028395) Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396) Non-site specific bone disorders congenital(MedDRA:10029509) Skeletal dysplasia(HPO:0002652) |
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Database Frequency: | 113 / 7739 | ||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
12q14 microdeletion syndrome | (Orphanet:94063) |
Achondrogenesis | (Orphanet:932) |
Achondrogenesis type 1A | (Orphanet:93299) |
Achondrogenesis type 1B | (Orphanet:93298) |
Achondrogenesis type 2 | (Orphanet:93296) |
Achondroplasia | (Orphanet:15) |
Acrogeria | (Orphanet:2500) |
Acromesomelic dysplasia, Grebe type | (Orphanet:2098) |
Acropectorovertebral dysplasia | (Orphanet:957) |
Albright hereditary osteodystrophy | (Orphanet:665) |
Alpha-mannosidosis | (Orphanet:61) |
Aminopterin/methotrexate embryofetopathy | (Orphanet:1908) |
Autosomal recessive Stickler syndrome | (Orphanet:250984) |
Bannayan-Riley-Ruvalcaba syndrome | (Orphanet:109) |
Baraitser-Winter syndrome | (Orphanet:2995) |
Beta-thalassemia major | (Orphanet:231214) |
Bone dysplasia, lethal Holmgren type | (Orphanet:1842) |
Buschke-Ollendorff syndrome | (Orphanet:1306) |
CAMPTODACTYLY WITH FIBROUS TISSUE HYPERPLASIA AND SKELETAL DYSPLASIA | (OMIM:211930) |
CINCA syndrome | (Orphanet:1451) |
Campomelia, Cumming type | (Orphanet:1318) |
Camurati-Engelmann disease | (Orphanet:1328) |
Cardiomyopathy-cataract-hip spine disease | (Orphanet:1345) |
Cartilage-hair hypoplasia | (Orphanet:175) |
Cerebro-facio-articular syndrome | (Orphanet:314679) |
Chondrodysplasia - disorder of sex development | (Orphanet:1422) |
Cleidocranial dysplasia | (Orphanet:1452) |
Cole-Carpenter syndrome | (Orphanet:2050) |
Craniometaphyseal dysplasia | (Orphanet:1522) |
Dyggve-Melchior-Clausen disease | (Orphanet:239) |
Dyschondrosteosis - nephritis | (Orphanet:1765) |
Dysostosis, Stanescu type | (Orphanet:1798) |
Dysplastic cortical hyperostosis | (Orphanet:2204) |
Dysspondyloenchondromatosis | (Orphanet:85198) |
Ehlers-Danlos syndrome, progeroid type | (Orphanet:75496) |
Ehlers-Danlos syndrome, spondylocheirodysplastic type | (Orphanet:157965) |
Eiken syndrome | (Orphanet:79106) |
Encephalocraniocutaneous lipomatosis | (Orphanet:2396) |
Facial dysmorphism - immunodeficiency - livedo - short stature | (Orphanet:352712) |
Free sialic acid storage disease | (Orphanet:834) |
Fucosidosis | (Orphanet:349) |
GM1 gangliosidosis | (Orphanet:354) |
Galactosialidosis | (Orphanet:351) |
HYPOPHOSPHATEMIC BONE DISEASE | (OMIM:146350) |
HYPOTHALAMIC HAMARTOMASCONGENITAL HYPOTHALAMIC HAMARTOMA SYNDROME, INCLUDED | (OMIM:241800) |
Heart defects - limb shortening | (Orphanet:1354) |
Hirsutism - skeletal dysplasia - intellectual deficit | (Orphanet:2156) |
Hurler syndrome | (Orphanet:93473) |
Hurler-Scheie syndrome | (Orphanet:93476) |
Hutchinson-Gilford progeria syndrome | (Orphanet:740) |
Hypertrichotic osteochondrodysplasia, Cantu type | (Orphanet:1517) |
Hypochondroplasia | (Orphanet:429) |
Hypotrichosis with juvenile macular degeneration | (Orphanet:1573) |
Isolated cloverleaf skull syndrome | (Orphanet:2343) |
Isolated osteopoikilosis | (Orphanet:166119) |
Jeune syndrome | (Orphanet:474) |
Kallmann syndrome | (Orphanet:478) |
Kniest dysplasia | (Orphanet:485) |
Larsen-like osseous dysplasia - short stature | (Orphanet:2370) |
Lethal Kniest-like dysplasia | (Orphanet:2347) |
Linear verrucous nevus syndrome | (Orphanet:2611) |
Male hypergonadotropic hypogonadism - intellectual deficit - skeletal anomalies | (Orphanet:2234) |
Mandibuloacral dysplasia | (Orphanet:2457) |
Marshall-Smith syndrome | (Orphanet:561) |
McCune-Albright syndrome | (Orphanet:562) |
Melorheostosis | (Orphanet:2485) |
Mesomelia-synostoses syndrome | (Orphanet:2496) |
Mesomelic dysplasia, Savarirayan type | (Orphanet:85170) |
Metatropic dysplasia | (Orphanet:2635) |
Microspherophakia - metaphyseal dysplasia | (Orphanet:2551) |
Mosaic trisomy 9 | (Orphanet:99776) |
Nager syndrome | (Orphanet:245) |
Nail-patella syndrome | (Orphanet:2614) |
Nasu-Hakola disease | (Orphanet:2770) |
Neurofibromatosis type 1 | (Orphanet:636) |
Osteocraniostenosis | (Orphanet:2763) |
Osteodysplasty, Melnick-Needles type | (Orphanet:2484) |
Proteus syndrome | (Orphanet:744) |
Proteus-like syndrome | (Orphanet:2969) |
Pycnodysostosis | (Orphanet:763) |
Pyknoachondrogenesis | (Orphanet:3003) |
Pyle disease | (Orphanet:3005) |
RHYNS syndrome | (Orphanet:140976) |
Refsum disease | (Orphanet:773) |
SKELETAL DYSPLASIA WITH DELAYED EPIPHYSEAL AND CARPAL BONE OSSIFICATION | (OMIM:182255) |
Sandhoff disease | (Orphanet:796) |
Schwartz-Jampel syndrome | (Orphanet:800) |
Short rib-polydactyly syndrome, Verma-Naumoff type | (Orphanet:93271) |
Sialidosis type 1 | (Orphanet:812) |
Sialidosis type 2 | (Orphanet:87876) |
Sjögren-Larsson syndrome | (Orphanet:816) |
Skeletal dysplasia - epilepsy - short stature | (Orphanet:1858) |
Spondyloepimetaphyseal dysplasia congenita, Strudwick type | (Orphanet:93346) |
Spondyloepimetaphyseal dysplasia with joint laxity | (Orphanet:93359) |
Spondyloepimetaphyseal dysplasia with multiple dislocations | (Orphanet:93360) |
Spondyloepimetaphyseal dysplasia, Irapa type | (Orphanet:93351) |
Spondyloepimetaphyseal dysplasia, Missouri type | (Orphanet:93356) |
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia | (Orphanet:253) |
Spondyloepiphyseal dysplasia congenita | (Orphanet:94068) |
Spondyloepiphyseal dysplasia tarda | (Orphanet:93284) |
Spondyloepiphyseal dysplasia, Kimberley type | (Orphanet:93283) |
Stickler syndrome | (Orphanet:828) |
Stickler syndrome type 1 | (Orphanet:90653) |
Stüve-Wiedemann syndrome | (Orphanet:3206) |
Thanatophoric dysplasia | (Orphanet:2655) |
Thanatophoric dysplasia type 1 | (Orphanet:1860) |
Thanatophoric dysplasia type 2 | (Orphanet:93274) |
Treacher-Collins syndrome | (Orphanet:861) |
VAN MALDERGEM SYNDROME 1 | (OMIM:601390) |
VAN MALDERGEM SYNDROME 2 | (OMIM:615546) |
X-linked dominant chondrodysplasia, Chassaing-Lacombe type | (Orphanet:163966) |
Yunis-Varon syndrome | (Orphanet:3472) |
Zellweger syndrome | (Orphanet:912) |