Amelia
Symptom Information:
Symptom ID: | HPO:0009827 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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) Amelia(HPO:0009827) Abnormal appendicular skeleton morphology(HPO:0011844) Abnormality of limb bone morphology(HPO:0002813) Aplasia/hypoplasia of the extremities(HPO:0009815) Amelia(HPO:0009827) MedDRA: Musculoskeletal and connective tissue disorders(MedDRA:10028395) Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396) Musculoskeletal and connective tissue disorders of limbs congenital(MedDRA:10028381) Amelia(HPO:0009827) |
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Database Frequency: | 12 / 7739 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
AMELIA AND TERMINAL TRANSVERSE HEMIMELIA | (OMIM:104400) |
Acheiropodia | (Orphanet:931) |
Autosomal recessive Robinow syndrome | (Orphanet:1507) |
Autosomal recessive amelia | (Orphanet:1027) |
BRACHIAL AMELIA, CLEFT LIP, AND HOLOPROSENCEPHALY | (OMIM:601357) |
Congenital brain dysgenesis due to glutamine synthetase deficiency | (Orphanet:71278) |
Metaphyseal acroscyphodysplasia | (Orphanet:1240) |
Microgastria - limb reduction defect | (Orphanet:2538) |
Ophthalmomandibulomelic dysplasia | (Orphanet:2741) |
POLYCYSTIC KIDNEY DISEASE, POTTER TYPE I, WITH MICROBRACHYCEPHALY,HYPERTELORISM, AND BRACHYMELIA | (OMIM:263210) |
Splenogonadal fusion - limb defects - micrognathia | (Orphanet:2063) |
Tetraamelia - multiple malformations | (Orphanet:3301) |