Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandGlaucoma (D005901)
Parent Node:
expandIntellectual Disability (D008607)
Parent Node:
expandMicrocephaly (D008831)
Parent Node:
expandQuadriplegia (D011782)
..Starting node
..expandAbsent Eyebrows and Eyelashes with Mental Retardation (C563111)

       Child Nodes:



 Sister Nodes: 
..expandAbsent Eyebrows and Eyelashes with Mental Retardation (C563111)
..expandMicrocephaly with spastic quadriplegia (C537546)
..expandOpticocochleodentate Degeneration (C563002)
..expandSpastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation (C564808)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:105
Name:Absent Eyebrows and Eyelashes with Mental Retardation
Definition:
Alternative IDs:
ParentIDs:MESH:D005901|MESH:D008607|MESH:D008831|MESH:D011782
TreeNumbers:C05.660.207.620/C563111 |C10.500.507.400.500/C563111 |C10.597.606.643/C563111 |C10.597.622.760/C563111 |C11.525.381/C563111 |C16.131.621.207.620/C563111 |C16.131.666.507.400.500/C563111 |C23.888.592.604.646/C563111 |C23.888.592.636.786/C563111 |F03.550.600/C56311
Synonyms:Pseudoprogeria Syndrome
Slim Mappings:Congenital abnormality|Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C563111
MeSH: C563111
OMIM: 200130;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0002223Absent eyebrowHP:0040284
3 HP:0000561Absent eyelashesHP:0040284
4 HP:0000444Convex nasal ridgeHP:0040284
5 HP:0002084EncephaloceleHP:0040284
6 HP:0000501GlaucomaHP:0040284
7 HP:0001249Intellectual disability
8 HP:0000252MicrocephalyHP:0040284
9 HP:0002478Progressive spastic quadriplegiaHP:0040284
10 HP:0003196Short noseHP:0040284
Disease Causing ClinVar Variants