MCID: TRC113
MIFTS: 17

Trichoodontoonychial Dysplasia with Bone Deficiency

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

Aliases & Classifications for Trichoodontoonychial Dysplasia with Bone Deficiency

MalaCards integrated aliases for Trichoodontoonychial Dysplasia with Bone Deficiency:

Name: Trichoodontoonychial Dysplasia with Bone Deficiency 56
Trichoodontoonychial Dysplasia 58 71
Trichoodontoonychial Dysplasia with Bone Deficiency in Frontoparietal Region 58

Characteristics:

Orphanet epidemiological data:

58
trichoodontoonychial dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
trichoodontoonychial dysplasia with bone deficiency:
Inheritance autosomal recessive inheritance


Classifications:

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


External Ids:

OMIM 56 275450
UMLS via Orphanet 72 C3502453
Orphanet 58 ORPHA3355
MedGen 41 C3279457
UMLS 71 C3502453

Summaries for Trichoodontoonychial Dysplasia with Bone Deficiency

MalaCards based summary : Trichoodontoonychial Dysplasia with Bone Deficiency, also known as trichoodontoonychial dysplasia, is related to trichoodontoonychial dysplasia and anodontia. Affiliated tissues include bone and skin, and related phenotypes are nail dystrophy and melanocytic nevus

More information from OMIM: 275450

Related Diseases for Trichoodontoonychial Dysplasia with Bone Deficiency

Diseases related to Trichoodontoonychial Dysplasia with Bone Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 trichoodontoonychial dysplasia 12.5
2 anodontia 10.2
3 ectodermal dysplasia 10.2
4 hypotrichosis 10.2

Symptoms & Phenotypes for Trichoodontoonychial Dysplasia with Bone Deficiency

Human phenotypes related to Trichoodontoonychial Dysplasia with Bone Deficiency:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 nail dystrophy 31 HP:0008404
2 melanocytic nevus 31 HP:0000995
3 hypotrichosis 31 HP:0001006
4 nail dysplasia 31 HP:0002164
5 supernumerary nipple 31 HP:0002558
6 hypoplasia of dental enamel 31 HP:0006297
7 ectodermal dysplasia 31 HP:0000968
8 anodontia 31 HP:0000674

Symptoms via clinical synopsis from OMIM:

56
Skin:
ectodermal dysplasia
supernumerary nipples
nevus pigmentosus

Nails:
dystrophic nails

Skel:
frontoparietal bone deficiency

Teeth:
enamel hypoplasia
secondary anodontia

Hair:
severe hypotrichosis

Clinical features from OMIM:

275450

Drugs & Therapeutics for Trichoodontoonychial Dysplasia with Bone Deficiency

Search Clinical Trials , NIH Clinical Center for Trichoodontoonychial Dysplasia with Bone Deficiency

Genetic Tests for Trichoodontoonychial Dysplasia with Bone Deficiency

Anatomical Context for Trichoodontoonychial Dysplasia with Bone Deficiency

MalaCards organs/tissues related to Trichoodontoonychial Dysplasia with Bone Deficiency:

40
Bone, Skin

Publications for Trichoodontoonychial Dysplasia with Bone Deficiency

Articles related to Trichoodontoonychial Dysplasia with Bone Deficiency:

# Title Authors PMID Year
1
Trichoodontoonychial dysplasia--a new meso-ectodermal dysplasia. 61 56
6859125 1983

Variations for Trichoodontoonychial Dysplasia with Bone Deficiency

Expression for Trichoodontoonychial Dysplasia with Bone Deficiency

Search GEO for disease gene expression data for Trichoodontoonychial Dysplasia with Bone Deficiency.

Pathways for Trichoodontoonychial Dysplasia with Bone Deficiency

GO Terms for Trichoodontoonychial Dysplasia with Bone Deficiency

Sources for Trichoodontoonychial Dysplasia with Bone Deficiency

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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