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 59
Prenatal Benign Phosphoethanolaminuria 59
Prenatal Benign Rathburn Disease 59

Characteristics:

Orphanet epidemiological data:

59
prenatal benign hypophosphatasia
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Antenatal,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA247638
ICD10 via Orphanet 34 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:

41
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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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