General Information of Disease (ID: DISPV4U0)

Disease Name Alopecia-intellectual disability syndrome 1
Synonyms APMR; alopecia-mental retardation syndrome 1; alopecia-intellectual disability syndrome 1; APMR1
Disease Hierarchy
DISXHSME: Alopecia - intellectual disability syndrome
DISPV4U0: Alopecia-intellectual disability syndrome 1
Disease Identifiers
MONDO ID
MONDO_0021035
MESH ID
C565965
UMLS CUI
C1859878
OMIM ID
203650
MedGen ID
349263

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
AHSG TTKF4WV Limited Autosomal recessive [1]
AHSG TTKF4WV Strong Genetic Variation [1]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AHSG OTUG0LEA Limited Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Association of AHSG with alopecia and mental retardation (APMR) syndrome. Hum Genet. 2017 Mar;136(3):287-296. doi: 10.1007/s00439-016-1756-5. Epub 2017 Jan 4.