Rhizomelia
Symptom Information:
Symptom ID: | HPO:0008905 | ||||||||||||||||
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) Aplasia/hypoplasia involving the skeleton(HPO:0009115) Aplasia/hypoplasia of the extremities(HPO:0009815) Limb undergrowth(HPO:0009826) Rhizomelia(HPO:0008905) Abnormal appendicular skeleton morphology(HPO:0011844) Abnormality of limb bone morphology(HPO:0002813) Aplasia/hypoplasia of the extremities(HPO:0009815) Limb undergrowth(HPO:0009826) Rhizomelia(HPO:0008905) Growth abnormality(HPO:0001507) Abnormality of body height(HPO:0000002) Short stature(HPO:0004322) Disproportionate short stature(HPO:0003498) Disproportionate short-limb short stature(HPO:0008873) Rhizomelia(HPO:0008905) Growth delay(HPO:0001510) Short stature(HPO:0004322) Disproportionate short stature(HPO:0003498) Disproportionate short-limb short stature(HPO:0008873) Rhizomelia(HPO:0008905) MedDRA: |
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Database Frequency: | 85 / 7739 | ||||||||||||||||
Resource: |
All diseases associated with this symptom:
Absence deformity of leg - cataract | (Orphanet:2310) |
Achondroplasia | (Orphanet:15) |
Anauxetic dysplasia | (Orphanet:93347) |
Apert syndrome | (Orphanet:87) |
Atelosteogenesis type I | (Orphanet:1190) |
Atelosteogenesis type III | (Orphanet:56305) |
Autosomal dominant Robinow syndrome | (Orphanet:3107) |
Autosomal dominant omodysplasia | (Orphanet:93328) |
Autosomal recessive omodysplasia | (Orphanet:93329) |
Axial spondylometaphyseal dysplasia | (Orphanet:168549) |
BARATELA-SCOTT SYNDROME | (OMIM:300881) |
Bone dysplasia, lethal Holmgren type | (Orphanet:1842) |
Boomerang dysplasia | (Orphanet:1263) |
Brachydactyly-long thumb syndrome | (Orphanet:2946) |
CHST3-related skeletal dysplasia | (Orphanet:263463) |
COG1-CDG | (Orphanet:263508) |
Cartilage-hair hypoplasia | (Orphanet:175) |
Cleidorhizomelic syndrome | (Orphanet:1453) |
Cloverleaf skull - multiple congenital anomalies | (Orphanet:93267) |
Cranioectodermal dysplasia | (Orphanet:1515) |
Cranioectodermal dysplasia 1 | (OMIM:218330) |
Cranioectodermal dysplasia 2 | (OMIM:613610) |
DYGGVE-MELCHIOR-CLAUSEN DISEASE | (OMIM:223800) |
Desmosterolosis | (Orphanet:35107) |
Diastrophic dwarfism | (Orphanet:628) |
Dyggve-Melchior-Clausen disease | (Orphanet:239) |
Ellis Van Creveld syndrome | (Orphanet:289) |
FIBROCHONDROGENESIS 1 | (OMIM:228520) |
Femoral-facial syndrome | (Orphanet:1988) |
Fibrochondrogenesis | (Orphanet:2021) |
Fibular aplasia - complex brachydactyly | (Orphanet:2639) |
Greenberg dysplasia | (Orphanet:1426) |
Hall-Riggs syndrome | (Orphanet:2107) |
Heart defects - limb shortening | (Orphanet:1354) |
Hypertrichosis cubiti - short stature | (Orphanet:2220) |
Kniest dysplasia | (Orphanet:485) |
Kyphomelic dysplasia | (Orphanet:1801) |
Langer mesomelic dysplasia | (Orphanet:2632) |
Lethal Kniest-like dysplasia | (Orphanet:2347) |
MICROPHTHALMIA, SYNDROMIC 14 | (OMIM:615877) |
Metaphyseal anadysplasia | (Orphanet:1040) |
Metaphyseal chondrodysplasia, Schmid type | (Orphanet:174) |
Multiple epiphyseal dysplasia, Lowry type | (Orphanet:166016) |
OSTEOCHONDRODYSPLASIA, RHIZOMELIC, WITH CALLOSAL AGENESIS, THROMBOCYTOPENIA,HYDROCEPHALUS, AND HYPERTENSION | (OMIM:166990) |
OSTEOGENESIS IMPERFECTA, TYPE VII | (OMIM:610682) |
Omodysplasia | (Orphanet:2733) |
Opsismodysplasia | (Orphanet:2746) |
Osteoglophonic dwarfism | (Orphanet:2645) |
Pelviscapular dysplasia | (Orphanet:93333) |
Peters-plus syndrome | (Orphanet:709) |
Pseudodiastrophic dysplasia | (Orphanet:85174) |
RHIZOMELIC DYSPLASIA, SCOLIOSIS, AND RETINITIS PIGMENTOSA | (OMIM:610319) |
Rhizomelic chondrodysplasia punctata | (Orphanet:177) |
Rhizomelic chondrodysplasia punctata type 1 | (Orphanet:309789) |
Rhizomelic chondrodysplasia punctata type 2 | (Orphanet:309796) |
Rhizomelic chondrodysplasia punctata type 3 | (Orphanet:309803) |
Rhizomelic dysplasia, Patterson-Lowry type | (Orphanet:2831) |
Rhizomelic syndrome, Urbach type | (Orphanet:3098) |
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, ANDSKELETAL ABNORMALITIES | (OMIM:602471) |
SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION,LETHAL | (OMIM:602613) |
SPONASTRIME dysplasia | (Orphanet:93357) |
Satoyoshi syndrome | (Orphanet:3130) |
Short rib-polydactyly syndrome | (Orphanet:1505) |
Short rib-polydactyly syndrome, Verma-Naumoff type | (Orphanet:93271) |
Short-rib thoracic dysplasia 2 with or without polydactyly | (OMIM:611263) |
Short-rib thoracic dysplasia 5 with or without polydactyly | (OMIM:614376) |
Smith-Lemli-Opitz syndrome | (Orphanet:818) |
Spondyloenchondrodysplasia | (Orphanet:1855) |
Spondyloepimetaphyseal dysplasia - hypotrichosis | (Orphanet:168443) |
Spondyloepimetaphyseal dysplasia, Missouri type | (Orphanet:93356) |
Spondyloepimetaphyseal dysplasia, aggrecan type | (Orphanet:171866) |
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia | (Orphanet:253) |
Spondylometaphyseal dysplasia | (Orphanet:254) |
Spondylometaphyseal dysplasia - cone-rod dystrophy | (Orphanet:85167) |
Spondylometaphyseal dysplasia, Sedaghatian type | (Orphanet:93317) |
Tetrasomy 12p | (Orphanet:884) |
Thanatophoric dysplasia | (Orphanet:2655) |
Thanatophoric dysplasia type 1 | (Orphanet:1860) |
Thanatophoric dysplasia type 2 | (Orphanet:93274) |
Thoracic dysplasia-hydrocephalus syndrome | (Orphanet:1861) |
Thoracomelic dysplasia | (Orphanet:1803) |
Verloove Vanhorick-Brubakk syndrome | (Orphanet:3429) |
Weissenbacher- Zweymuller syndrome | (Orphanet:3450) |
X-linked dominant chondrodysplasia punctata | (Orphanet:35173) |
X-linked dominant chondrodysplasia, Chassaing-Lacombe type | (Orphanet:163966) |