MCID: PRN048
MIFTS: 8

Prenatal Benign Hypophosphatasia

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Prenatal Benign Hypophosphatasia

MalaCards integrated aliases for Prenatal Benign Hypophosphatasia:

Name: Prenatal Benign Hypophosphatasia 55
Prenatal Benign Phosphoethanolaminuria 55
Prenatal Benign Rathburn Disease 55

Characteristics:

Orphanet epidemiological data:

55
prenatal benign hypophosphatasia
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Antenatal,Neonatal;

Classifications:



External Ids:

Orphanet 55 ORPHA247638
ICD10 via Orphanet 33 E83.3

Summaries for Prenatal Benign Hypophosphatasia

MalaCards based summary : Prenatal Benign Hypophosphatasia, is also known as prenatal benign phosphoethanolaminuria. An important gene associated with Prenatal Benign Hypophosphatasia is ALPL (Alkaline Phosphatase, Liver/Bone/Kidney). Affiliated tissues include bone.

Related Diseases for Prenatal Benign Hypophosphatasia

Symptoms & Phenotypes for Prenatal Benign Hypophosphatasia

Drugs & Therapeutics for Prenatal Benign Hypophosphatasia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Prenatal Benign Hypophosphatasia

Genetic Tests for Prenatal Benign Hypophosphatasia

Anatomical Context for Prenatal Benign Hypophosphatasia

MalaCards organs/tissues related to Prenatal Benign Hypophosphatasia:

38
Bone

Publications for Prenatal Benign Hypophosphatasia

Variations for Prenatal Benign Hypophosphatasia

Expression for Prenatal Benign Hypophosphatasia

Search GEO for disease gene expression data for Prenatal Benign Hypophosphatasia.

Pathways for Prenatal Benign Hypophosphatasia

GO Terms for Prenatal Benign Hypophosphatasia

Sources for Prenatal Benign Hypophosphatasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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