Odonto-onycho dysplasia - alopecia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 11
OrphanetNr: 2722
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Ectodermal dysplasia syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
Genetic malformation syndrome with odontal and/or periodontal component
 -Rare genetic disease
Malformation syndrome with odontal and/or periodontal component
 -Rare developmental defect during embryogenesis
 -Rare odontologic disease

Symptom Information: Sort by abundance 

1
(HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
2
(HPO:0006482) Abnormality of dental morphology Very frequent [Orphanet] 81 / 7739
3
(HPO:0000691) Microdontia Very frequent [Orphanet] 104 / 7739
4
(HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
5
(HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
6
(HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
7
(HPO:0001800) Hypoplastic toenails Very frequent [Orphanet] 74 / 7739
8
(HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
9
(HPO:0001231) Abnormality of the fingernails Very frequent [Orphanet] 116 / 7739
10
(HPO:0002225) Sparse pubic hair Very frequent [Orphanet] 76 / 7739
11
(HPO:0001596) Alopecia Very frequent [Orphanet] 162 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: