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Diseases

Acromesomelic Dysplasia, Hunter-Thompson Type

acromesomelic dysplasia, hunter-thompson type

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
Acromesomelic Dysplasia, Hunter-Thompson Type
Standard Disease Name
acromesomelic dysplasia, hunter-thompson type
MeSH Tree
No data
ICD-10
Q78.8

Identifiers

DO ID
No data
MeSH ID
C535658
OMIM ID
201250
UMLS ID
C2930970
HPO ID
No data

Description and Extensions

Description
Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism (adult height approximately 120 cm)
Related

Direct relations and traceable candidates grouped by relation type.

Related Targets

target disease8 Targets
01
BMPR1B
bone morphogenetic protein receptor type 1B
bone morphogenetic protein receptor type 1B
02
FGFR3
fibroblast growth factor receptor 3
fibroblast growth factor receptor 3
03
GDF5
growth differentiation factor 5
growth differentiation factor 5
06
MAPK1
mitogen-activated protein kinase 1
mitogen-activated protein kinase 1
07
MAPK3
mitogen-activated protein kinase 3
mitogen-activated protein kinase 3