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:
expandAlopecia (D000505)
Parent Node:
expandDarier Disease (D007644)
Parent Node:
expandPhotophobia (D020795)
..Starting node
..expandKeratosis Follicularis Spinulosa Decalvans, Autosomal Dominant (C567553)

       Child Nodes:



 Sister Nodes: 
..expandIchthyosis follicularis atrichia photophobia syndrome (C536085)
..expandKeratosis Follicularis Spinulosa Decalvans, Autosomal Dominant (C567553)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:6076
Name:Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Definition:
Alternative IDs:
ParentIDs:MESH:D000505|MESH:D007644|MESH:D020795
TreeNumbers:C10.597.751.941.661/C567553 |C11.966.741/C567553 |C16.320.850.190/C567553 |C17.800.329.937.122/C567553 |C17.800.428.275/C567553 |C17.800.827.190/C567553 |C23.300.035/C567553 |C23.888.592.763.941.661/C567553
Synonyms:
Slim Mappings:Eye disease|Genetic disease (inborn)|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms|Skin disease
Reference: MedGen: C567553
MeSH: C567553
OMIM: 612843;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001596Alopecia
3 HP:0000498Blepharitis
4 HP:0000670Carious teeth
5 HP:0000509Conjunctivitis
6 HP:0006297Enamel hypoplasia
7 HP:0001041Facial erythema
8 HP:0025084Folliculitis
9 HP:0001425Heterogeneous
10 HP:0000491Keratitis
11 HP:0002164Nail dysplasia
12 HP:0008404Nail dystrophy
13 HP:0030054Perifollicular fibrosis
14 HP:0000613Photophobia
15 HP:0000535Sparse and thin eyebrow
16 HP:0000653Sparse eyelashes
Disease Causing ClinVar Variants