PTLAH
MCID: PTL010
MIFTS: 19
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Patella Aplasia-Hypoplasia (PTLAH)
Categories:
Bone diseases, Fetal diseases, Rare diseases
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MalaCards integrated aliases for Patella Aplasia-Hypoplasia:
Name: Patella Aplasia-Hypoplasia
57
Characteristics:Orphanet epidemiological data:59
patella aplasia/hypoplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy; HPO:32Classifications:
ICD10:
34
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MalaCards based summary
:
Patella Aplasia-Hypoplasia, also known as patella aplasia or hypoplasia, is related to obsolete: patella aplasia/hypoplasia, unilateral and obsolete: patella aplasia/hypoplasia, bilateral. An important gene associated with Patella Aplasia-Hypoplasia is PTLAH (Patella Aplasia-Hypoplasia). Affiliated tissues include skin and bone, and related phenotypes are abnormality of the skin and patellar aplasia
More information from OMIM:
168860
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Diseases related to Patella Aplasia-Hypoplasia via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Patella Aplasia-Hypoplasia:![]() |
Human phenotypes related to Patella Aplasia-Hypoplasia:32
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MalaCards organs/tissues related to Patella Aplasia-Hypoplasia:41
Skin,
Bone
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Articles related to Patella Aplasia-Hypoplasia:
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Search
GEO
for disease gene expression data for Patella Aplasia-Hypoplasia.
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