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 58
Trichoodontoonychial Dysplasia 60 74
Trichoodontoonychial Dysplasia with Bone Deficiency in Frontoparietal Region 60

Characteristics:

Orphanet epidemiological data:

60
trichoodontoonychial dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
trichoodontoonychial dysplasia with bone deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 275450
UMLS via Orphanet 75 C3502453
Orphanet 60 ORPHA3355
MedGen 43 C3279457
UMLS 74 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 ectodermal dysplasia. Affiliated tissues include skin, and related phenotypes are nail dystrophy and melanocytic nevus

Description 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 12.4
2 ectodermal dysplasia 10.2

Symptoms & Phenotypes for Trichoodontoonychial Dysplasia with Bone Deficiency

Human phenotypes related to Trichoodontoonychial Dysplasia with Bone Deficiency:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 nail dystrophy 33 HP:0008404
2 melanocytic nevus 33 HP:0000995
3 hypotrichosis 33 HP:0001006
4 nail dysplasia 33 HP:0002164
5 supernumerary nipple 33 HP:0002558
6 hypoplasia of dental enamel 33 HP:0006297
7 ectodermal dysplasia 33 HP:0000968
8 anodontia 33 HP:0000674

Symptoms via clinical synopsis from OMIM:

58
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:

42
Skin

Publications for Trichoodontoonychial Dysplasia with Bone Deficiency

Articles related to Trichoodontoonychial Dysplasia with Bone Deficiency:

# Title Authors Year
1
Trichoodontoonychial dysplasia--a new meso-ectodermal dysplasia. ( 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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