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: Jaw Abnormalities (D007569)
Parent Node: Mouth Abnormalities (D009056)
..Starting node ..Cleft Palate-Lateral Synechia Syndrome (C563047)
Child Nodes:
Sister Nodes:
..Ankyloglossia (C562396)
..Calabro syndrome (C537960)
..Cleft Lip (D002971) 59
..Cleft Palate (D002972) 103
..Cleft Palate-Lateral Synechia Syndrome (C563047)
..Contractures, Congenital, Torticollis, and Malignant Hyperthermia (C565679)
..Fibromatosis, Gingival (D005351) 11
..Jagell Holmgren Hofer syndrome (C537364)
..Macrostomia (D008265) 3
..Microstomia (D008865) 4
..Taurodontism, microdontia, and dens invaginatus (C536947)
..Temtamy preaxial brachydactyly syndrome (C536958)
..Velopharyngeal Insufficiency (D014681)
..Verloove-Vanhorick Brubakk syndrome (C536541)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2429

Name:

Cleft Palate-Lateral Synechia Syndrome

Definition:

Alternative IDs:

ParentIDs:

MESH:D007569|MESH:D009056

TreeNumbers:

C05.500.460/C563047 |C05.660.207.540.460/C563047 |C07.320.440/C563047 |C07.465.525/C563047 |C07.650.500.460/C563047 |C07.650.525/C563047 |C16.131.621.207.540.460/C563047 |C16.131.850.500.460/C563047 |C16.131.850.525/C563047

Synonyms:

CPLS Syndrome

Slim Mappings:

Congenital abnormality|Mouth disease|Musculoskeletal disease

Reference:

MedGen: C563047
MeSH: C563047
OMIM: 119550;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000175	Cleft palate

Disease Causing ClinVar Variants