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Diseases

Autosomal dominant hypocalcemia

autosomal dominant hypocalcemia

Entity Type
Diseases
Relation Groups
1
Relation Preview
8

Basic Information

Grouped by core information, identifiers, and descriptions.

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Core Information

Disease Name
Autosomal dominant hypocalcemia
Standard Disease Name
autosomal dominant hypocalcemia
MeSH Tree
No data
ICD-10
No data

Identifiers

DO ID
No data
MeSH ID
C535992
OMIM ID
278800
UMLS ID
C0265201
HPO ID
No data

Description and Extensions

Description
NCI2016_02D:A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.
Related

Direct relations and traceable candidates grouped by relation type.

Related Targets

target disease8 Targets
03
CXADR
CXADR Ig-like cell adhesion molecule
CXADR Ig-like cell adhesion molecule
06
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha
protein kinase cAMP-dependent type I regulatory subunit alpha
07
SPG7
SPG7 matrix AAA peptidase subunit, paraplegin
SPG7 matrix AAA peptidase subunit, paraplegin