MCID: LYM123
MIFTS: 21
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Lymphedema-Hypoparathyroidism Syndrome
Categories:
Cardiovascular diseases, Endocrine diseases, Eye diseases, Fetal diseases, Immune diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Lymphedema-Hypoparathyroidism Syndrome:
Characteristics:Orphanet epidemiological data:58
dahlberg-borer-newcomer syndrome
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; HPO:31Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Anatomical: Eye diseases Cardiovascular diseases Skin diseases Endocrine diseases Immune diseases
ICD10:
33
Orphanet: 58
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NIH Rare Diseases :
52
The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1563 Definition Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities. Visit the Orphanet disease page for more resources.
MalaCards based summary : Lymphedema-Hypoparathyroidism Syndrome, is also known as dahlberg borer newcomer syndrome. Affiliated tissues include bone, kidney and skin, and related phenotypes are wide nasal bridge and short stature Wikipedia : 74 Dahlberg Borer Newcomer syndrome is a rare autosomal X-linked recessive genetic condition characterized... more...
More information from OMIM:
247410
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Human phenotypes related to Lymphedema-Hypoparathyroidism Syndrome:58 31 (show all 22)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:247410 |
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MalaCards organs/tissues related to Lymphedema-Hypoparathyroidism Syndrome:40
Bone,
Kidney,
Skin,
Eye,
Lung
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Articles related to Lymphedema-Hypoparathyroidism Syndrome:
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Search
GEO
for disease gene expression data for Lymphedema-Hypoparathyroidism Syndrome.
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