Phocomelia
Symptom Information:
Symptom ID: | HPO:0009829 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
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) Aplasia/hypoplasia of the extremities(HPO:0009815) Phocomelia(HPO:0009829) Abnormality of long bone morphology(HPO:0011314) Phocomelia(HPO:0009829) Aplasia/hypoplasia involving the skeleton(HPO:0009115) Aplasia/hypoplasia of the extremities(HPO:0009815) Phocomelia(HPO:0009829) 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) Phocomelia(HPO:0009829) |
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Database Frequency: | 20 / 7739 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
Acheiropodia | (Orphanet:931) |
Autosomal recessive Robinow syndrome | (Orphanet:1507) |
CORNELIA DE LANGE SYNDROME 1 | (OMIM:122470) |
Congenital brain dysgenesis due to glutamine synthetase deficiency | (Orphanet:71278) |
Cornelia de Lange syndrome | (Orphanet:199) |
Holoprosencephaly - radial heart renal anomalies | (Orphanet:3186) |
Holt-Oram syndrome | (Orphanet:392) |
Metaphyseal acroscyphodysplasia | (Orphanet:1240) |
Microgastria - limb reduction defect | (Orphanet:2538) |
Mirror polydactyly - vertebral segmentation - limbs defects | (Orphanet:3004) |
Nager syndrome | (Orphanet:245) |
Ophthalmomandibulomelic dysplasia | (Orphanet:2741) |
POLYCYSTIC KIDNEY DISEASE, POTTER TYPE I, WITH MICROBRACHYCEPHALY,HYPERTELORISM, AND BRACHYMELIA | (OMIM:263210) |
Phocomelia, Schinzel type | (Orphanet:2879) |
Roberts syndrome | (Orphanet:3103) |
SC PHOCOMELIA SYNDROME | (OMIM:269000) |
Splenogonadal fusion - limb defects - micrognathia | (Orphanet:2063) |
Thrombocytopenia - absent radius | (Orphanet:3320) |
Ulbright-Hodes syndrome | (Orphanet:3404) |
Von Voss-Cherstvoy syndrome | (Orphanet:3439) |