Disease browser and phenotype portal

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MSeqDR-LSDB
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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

Hearing Loss Disease Portal

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

Disease Browser
Parent Node: Orofaciodigital Syndromes (D009958)
..Starting node ..Orofaciodigital Syndrome X (C563491)
Child Nodes:
Sister Nodes:
..Juberg Hayward syndrome (C537690)
..Oral-facial-digital syndrome, type 2 (C538585)
..Orofaciodigital syndrome 11 (C557821)
..Orofaciodigital Syndrome 12 (C548034)
..Orofaciodigital Syndrome 13 (C548035)
..Orofaciodigital syndrome 3 (C557817)
..Orofaciodigital syndrome 4 (C537133)
..Orofaciodigital syndrome 5 (C557819)
..Orofaciodigital syndrome 6 (C536531)
..Orofaciodigital syndrome 8 (C557820)
..Orofaciodigital syndrome 9 (C557818)
..Orofaciodigital syndrome type1 (C537134)
..Orofaciodigital Syndrome VII (C563104)
..Orofaciodigital Syndrome X (C563491)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8349

Name:

Orofaciodigital Syndrome X

Definition:

Alternative IDs:

ParentIDs:

MESH:D009958

TreeNumbers:

C05.116.099.370.652/C563491 |C05.660.207.700/C563491 |C16.131.077.677/C563491 |C16.131.260.830.670/C563491 |C16.131.621.207.700/C563491 |C16.320.180.830.670/C563491

Synonyms:

Oral-Facial-Digital Syndrome, Type X |Oral-Facial-Digital Syndrome with Fibular Aplasia |Orofaciodigital Syndrome with Fibular Aplasia

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease

Reference:

MedGen: C563491
MeSH: C563491
OMIM: 165590;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000175	Cleft palate
3	HP:0005802	Coalescence of tarsal bones
4	HP:0005280	Depressed nasal bridge
5	HP:0002990	Fibular aplasia
6	HP:0001180	Hand oligodactyly
7	HP:0001177	Preaxial hand polydactyly
8	HP:0000278	Retrognathia
9	HP:0000506	Telecanthus

Disease Causing ClinVar Variants