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: Craniofacial Dysostosis (D003394)
Parent Node: Eye Abnormalities (D005124)
Parent Node: Maxillofacial Abnormalities (D019767)
Parent Node: Speech Disorders (D013064)
..Starting node ..Maxillofacial Dysostosis (C563599)
Child Nodes:
Sister Nodes:
..Aphasia (D001037) 6
..Arginine:Glycine Amidinotransferase Deficiency (C567192)
..Articulation Disorders (D001184) 7
..Atonic-Astatic Syndrome of Foerster (C565926)
..CHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
..Echolalia (D004454)
..Maxillofacial Dysostosis (C563599)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
..Mutism (D009155)
..Non-lissencephalic cortical dysplasia (C536243)
..Opticocochleodentate Degeneration (C563002)
..Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked (C564467)
..Speech disturbance - use of faulty phrasing and unrelated words (C538446)
..Stuttering (D013342) 2
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6847

Name:

Maxillofacial Dysostosis

Definition:

Alternative IDs:

ParentIDs:

MESH:D003394|MESH:D005124|MESH:D013064|MESH:D019767

TreeNumbers:

C05.116.099.370.231/C563599 |C05.660.207.231/C563599 |C05.660.207.540/C563599 |C07.650.500/C563599 |C10.597.606.150.500.800/C563599 |C11.250/C563599 |C16.131.384/C563599 |C16.131.621.207.231/C563599 |C16.131.621.207.540/C563599 |C16.131.850.500/C563599 |C23.888.59

Synonyms:

Slim Mappings:

Reference:

MedGen: C563599
MeSH: C563599
OMIM: 155000;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000377	Abnormality of the pinna
3	HP:0000750	Delayed speech and language development
4	HP:0000494	Downslanted palpebral fissures
5	HP:0000303	Mandibular prognathia

Disease Causing ClinVar Variants