MCID: ODN004
MIFTS: 11

Odonto Onycho Dysplasia with Alopecia

Categories: Fetal diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Odonto Onycho Dysplasia with Alopecia

MalaCards integrated aliases for Odonto Onycho Dysplasia with Alopecia:

Name: Odonto Onycho Dysplasia with Alopecia 52
Odonto-Onycho Dysplasia-Alopecia Syndrome 58

Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


External Ids:

Orphanet 58 ORPHA2722

Summaries for Odonto Onycho Dysplasia with Alopecia

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2722 Definition Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, cafe-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985. Visit the Orphanet disease page for more resources.

MalaCards based summary : Odonto Onycho Dysplasia with Alopecia, is also known as odonto-onycho dysplasia-alopecia syndrome. Affiliated tissues include skin, and related phenotypes are microdontia and palmoplantar keratoderma

Related Diseases for Odonto Onycho Dysplasia with Alopecia

Symptoms & Phenotypes for Odonto Onycho Dysplasia with Alopecia

Human phenotypes related to Odonto Onycho Dysplasia with Alopecia:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microdontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000691
2 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000982
3 hypoplastic toenails 58 31 hallmark (90%) Very frequent (99-80%) HP:0001800
4 alopecia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001596
5 reduced number of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0009804
6 sparse body hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002231
7 misalignment of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000692
8 sparse and thin eyebrow 31 hallmark (90%) HP:0000535
9 abnormal fingernail morphology 31 hallmark (90%) HP:0001231
10 abnormality of the fingernails 58 Very frequent (99-80%)
11 hypotrichosis 58 Very frequent (99-80%)
12 abnormality of dental morphology 58 Very frequent (99-80%)
13 sparse eyebrow 58 Very frequent (99-80%)

Drugs & Therapeutics for Odonto Onycho Dysplasia with Alopecia

Search Clinical Trials , NIH Clinical Center for Odonto Onycho Dysplasia with Alopecia

Genetic Tests for Odonto Onycho Dysplasia with Alopecia

Anatomical Context for Odonto Onycho Dysplasia with Alopecia

MalaCards organs/tissues related to Odonto Onycho Dysplasia with Alopecia:

40
Skin

Publications for Odonto Onycho Dysplasia with Alopecia

Variations for Odonto Onycho Dysplasia with Alopecia

Expression for Odonto Onycho Dysplasia with Alopecia

Search GEO for disease gene expression data for Odonto Onycho Dysplasia with Alopecia.

Pathways for Odonto Onycho Dysplasia with Alopecia

GO Terms for Odonto Onycho Dysplasia with Alopecia

Sources for Odonto Onycho Dysplasia with Alopecia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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