MCID: HYP312
MIFTS: 13

Hypophosphatemic Rickets and Hyperparathyroidism malady

Aliases & Classifications for Hypophosphatemic Rickets and Hyperparathyroidism

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Hypophosphatemic Rickets and Hyperparathyroidism, Aliases & Descriptions:

Name: Hypophosphatemic Rickets and Hyperparathyroidism 45 10


External Ids:

OMIM45 612089

Summaries for Hypophosphatemic Rickets and Hyperparathyroidism

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MalaCards based summary: Hypophosphatemic Rickets and Hyperparathyroidism is related to hyperparathyroidism and hypophosphatemic rickets, and has symptoms including autosomal dominant inheritance, renal phosphate wasting and macrocephaly. An important gene associated with Hypophosphatemic Rickets and Hyperparathyroidism is HPRHP (Hypophosphatemic rickets and hyperparathyroidism). Affiliated tissues include bone.

Description from OMIM:45 612089

Related Diseases for Hypophosphatemic Rickets and Hyperparathyroidism

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Diseases related to Hypophosphatemic Rickets and Hyperparathyroidism via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hyperparathyroidism30.9KL
2hypophosphatemic rickets10.4
3rickets10.4

Symptoms for Hypophosphatemic Rickets and Hyperparathyroidism

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Symptoms by clinical synopsis from OMIM:

612089

Clinical features from OMIM:

612089

HPO human phenotypes related to Hypophosphatemic Rickets and Hyperparathyroidism:

(show all 13)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 renal phosphate wasting HP:0000117
3 macrocephaly HP:0000256
4 rachitic rosary HP:0000897
5 frontal bossing HP:0002007
6 hypophosphatemia HP:0002148
7 bone pain HP:0002653
8 rickets HP:0002748
9 hypercalcemia HP:0003072
10 elevated circulating parathyroid hormone (pth) level HP:0003165
11 short stature HP:0004322
12 arnold-chiari type i malformation HP:0007099
13 parathyroid hyperplasia HP:0008208

Drugs & Therapeutics for Hypophosphatemic Rickets and Hyperparathyroidism

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Drug clinical trials:

Search ClinicalTrials for Hypophosphatemic Rickets and Hyperparathyroidism

Search NIH Clinical Center for Hypophosphatemic Rickets and Hyperparathyroidism

Genetic Tests for Hypophosphatemic Rickets and Hyperparathyroidism

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Anatomical Context for Hypophosphatemic Rickets and Hyperparathyroidism

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MalaCards organs/tissues related to Hypophosphatemic Rickets and Hyperparathyroidism:

31
Bone

Animal Models for Hypophosphatemic Rickets and Hyperparathyroidism or affiliated genes

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Publications for Hypophosphatemic Rickets and Hyperparathyroidism

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Articles related to Hypophosphatemic Rickets and Hyperparathyroidism:

idTitleAuthorsYear
1
A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism. (18308935)
2008

Variations for Hypophosphatemic Rickets and Hyperparathyroidism

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Expression for genes affiliated with Hypophosphatemic Rickets and Hyperparathyroidism

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Search GEO for disease gene expression data for Hypophosphatemic Rickets and Hyperparathyroidism.

Pathways for genes affiliated with Hypophosphatemic Rickets and Hyperparathyroidism

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Compounds for genes affiliated with Hypophosphatemic Rickets and Hyperparathyroidism

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GO Terms for genes affiliated with Hypophosphatemic Rickets and Hyperparathyroidism

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Products for genes affiliated with Hypophosphatemic Rickets and Hyperparathyroidism

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hypophosphatemic Rickets and Hyperparathyroidism

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet