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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Ectodermal Dysplasia (D004476)
Parent Node: Odontodysplasia (D018126)
..Starting node ..Odontoonychodermal dysplasia (C537742)
Child Nodes:
Sister Nodes:
..Odontoonychodermal dysplasia (C537742)
..Singleton Merten syndrome (C537343)
..Trichodental syndrome (C536551)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8208

Name:

Odontoonychodermal dysplasia

Definition:

Alternative IDs:

OMIM:257980

ParentIDs:

MESH:D004476|MESH:D018126

TreeNumbers:

C07.650.800.600/C537742 |C07.793.700.600/C537742 |C16.131.077.350/C537742 |C16.131.831.350/C537742 |C16.131.850.800.600/C537742 |C16.320.850.250/C537742 |C17.800.804.350/C537742 |C17.800.827.250/C537742

Synonyms:

OODD

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Mouth disease|Skin disease

Reference:

MedGen: C537742
MeSH: C537742
OMIM: 257980;

Genes: WNT10A;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0006481	Abnormality of primary teeth	HP:0040284
3	HP:0000951	Abnormality of the skin
4	HP:0006349	Agenesis of permanent teeth	HP:0040284
5	HP:0001798	Anonychia
6	HP:0011359	Dry hair
7	HP:0000958	Dry skin	HP:0040284
8	HP:0008391	Dystrophic fingernails
9	HP:0001810	Dystrophic toenail	HP:0040284
10	HP:0025092	Epidermal acanthosis
11	HP:0010783	Erythema
12	HP:0002213	Fine hair
13	HP:0000975	Hyperhidrosis	HP:0040284
14	HP:0000668	Hypodontia
15	HP:0000966	Hypohidrosis	HP:0040284
16	HP:0002164	Nail dysplasia
17	HP:0007410	Palmoplantar hyperhidrosis
18	HP:0000613	Photophobia	HP:0040284
19	HP:0007556	Plantar hyperkeratosis	HP:0040284
20	HP:0010298	Smooth tongue
21	HP:0000535	Sparse and thin eyebrow	HP:0040284
22	HP:0002231	Sparse body hair	HP:0040284
23	HP:0008070	Sparse hair
24	HP:0002209	Sparse scalp hair	HP:0040284

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_025216.2(WNT10A):c.27G>A (p.Trp9Ter)	80326	WNT10A	Pathogenic	121908123	RCV000004720;	N	MedGen:C0796093,OMIM:257980	2	219745744	219745744	NM_025216.2:c.27G>A	NP_079492.2:p.Trp9Ter	NC_000002.11:g.219745744G>A	OMIM Allelic Variant:606268.0006	C0796093 257980 Odontoonychodermal dysplasia
NM_025216.2(WNT10A):c.321C>A (p.Cys107Ter)	80326	WNT10A	Pathogenic	121908119	RCV000004715; RCV000004716; RCV000030650; RCV000190800;	N	MedGen:C0796093,OMIM:257980; MedGen:C0950123; MedGen:C1835492,OMIM:150400; MedGen:C1857069,OMIM:224750,ORPHA:50944	2	219747090	219747090	NM_025216.2:c.321C>A	NP_079492.2:p.Cys107Ter	NC_000002.11:g.219747090C>A	OMIM Allelic Variant:606268.0002	C0950123 Inborn genetic diseases; C0796093 257980 Odontoonychodermal dysplasia; C1857069 224750 Schopf-Schulz-Passarge syndrome; C1835492 150400 Tooth agenesis, selective, 4
NM_025216.2(WNT10A):c.383G>A (p.Arg128Gln)	80326	WNT10A	Pathogenic	121908121	RCV000004718; RCV000030651; RCV000059803;	N	MedGen:C0796093,OMIM:257980; MedGen:C1835492,OMIM:150400; MedGen:CN221809	2	219754712	219754712	NM_025216.2:c.383G>A	NP_079492.2:p.Arg128Gln	NC_000002.11:g.219754712G>A	OMIM Allelic Variant:606268.0004,UniProtKB (variants):VAR_062510	CN221809 not provided; C0796093 257980 Odontoonychodermal dysplasia; C1835492 150400 Tooth agenesis, selective, 4
NM_025216.2(WNT10A):c.682T>A (p.Phe228Ile)	80326	WNT10A	Pathogenic	121908120	RCV000004717; RCV000023529;	N	MedGen:C0796093,OMIM:257980; MedGen:C1835492,OMIM:150400	2	219755011	219755011	NM_025216.2:c.682T>A	NP_079492.2:p.Phe228Ile	NC_000002.11:g.219755011T>A	OMIM Allelic Variant:606268.0003	C0796093 257980 Odontoonychodermal dysplasia; C1835492 150400 Tooth agenesis, selective, 4
NM_025216.2(WNT10A):c.697G>T (p.Glu233Ter)	80326	WNT10A	Pathogenic	121908118	RCV000004714;	N	MedGen:C0796093,OMIM:257980	2	219755026	219755026	NM_025216.2:c.697G>T	NP_079492.2:p.Glu233Ter	NC_000002.11:g.219755026G>T	OMIM Allelic Variant:606268.0001	C0796093 257980 Odontoonychodermal dysplasia
NM_025216.2(WNT10A):c.1128C>A (p.Cys376Ter)	80326	WNT10A	Pathogenic	121908122	RCV000004719;	N	MedGen:C0796093,OMIM:257980	2	219757867	219757867	NM_025216.2:c.1128C>A	NP_079492.2:p.Cys376Ter	NC_000002.11:g.219757867C>A	OMIM Allelic Variant:606268.0005	C0796093 257980 Odontoonychodermal dysplasia