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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: Corneal Dystrophies, Hereditary (D003317)
Parent Node: Keratoderma, Palmoplantar (D007645)
Parent Node: Lower Extremity Deformities, Congenital (D038061)
..Starting node ..Corneodermatoosseous syndrome (C536444)
Child Nodes:
Sister Nodes:
..Corneodermatoosseous syndrome (C536444)
..Ectrodactyly cardiopathy dysmorphism (C536187)
..Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia (C563344)
..Familial streblodactyly (C536852)
..Foot Deformities, Congenital (D005532) 78
..Holt-Oram syndrome (C535326)
..Merlob Grunebaum Reisner syndrome (C537461)
..Mermaid syndrome (C538595)
..Nasodigitoacoustic syndrome (C538337)
..Popliteal Pterygium Syndrome (C562509)
..Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum (C563787)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2752

Name:

Corneodermatoosseous syndrome

Definition:

Alternative IDs:

ParentIDs:

MESH:D003317|MESH:D007645|MESH:D038061

TreeNumbers:

C05.660.585.512/C536444 |C11.204.236/C536444 |C11.270.162/C536444 |C16.131.621.585.512/C536444 |C16.320.290.162/C536444 |C16.320.850.475/C536444 |C17.800.428.435/C536444 |C17.800.827.475/C536444

Synonyms:

CDO syndrome |Corneal dystrophy epithelial and short stature |Corneal dystrophy, epithelial, with skin and skeletal changes

Slim Mappings:

Congenital abnormality|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Skin disease

Reference:

MedGen: C536444
MeSH: C536444
OMIM: 122440;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000164	Abnormality of the dentition
3	HP:0001156	Brachydactyly
4	HP:0001131	Corneal dystrophy
5	HP:0001019	Erythroderma
6	HP:0011085	Hypomature dental enamel
7	HP:0001806	Onycholysis
8	HP:0000972	Palmoplantar hyperkeratosis
9	HP:0000613	Photophobia
10	HP:0001622	Premature birth
11	HP:0009882	Short distal phalanx of finger
12	HP:0004322	Short stature

Disease Causing ClinVar Variants