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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: Facies (D019066)
Parent Node: Language Disorders (D007806)
Parent Node: Learning Disorders (D007859)
..Starting node ..Giacheti Syndrome (C567864)
Child Nodes:
Sister Nodes:
..Chromosome 10q26 Deletion Syndrome (C567182)
..CHROMOSOME 7q11.23 DELETION SYNDROME, DISTAL, 1.2-MB (OMIM:613729)
..Dyscalculia (D060705)
..Dyslexia (D004410) 3
..Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders (C564505)
..Giacheti Syndrome (C567864)
..NF1 Microdeletion Syndrome (C563524)
..Riddle Syndrome (C567453)
..Slavotinek Pike Mills Hurst syndrome (C536672)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4587

Name:

Giacheti Syndrome

Definition:

Alternative IDs:

ParentIDs:

MESH:D007806|MESH:D007859|MESH:D019066

TreeNumbers:

C10.597.606.150.500/C567864 |C10.597.606.150.550/C567864 |C23.550.291.812/C567864 |C23.888.592.604.150.500/C567864 |C23.888.592.604.150.550/C567864 |F03.550.350.500/C567864 |F03.550.450/C567864

Synonyms:

Marfanoid Habitus and Specific Language and Learning Disabilities

Slim Mappings:

Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms

Reference:

MedGen: C567864
MeSH: C567864
OMIM: 612917;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000348	High forehead
3	HP:0000601	Hypotelorism
4	HP:0000276	Long face
5	HP:0001833	Long foot
6	HP:0002167	Neurological speech impairment
7	HP:0001328	Specific learning disability
8	HP:0000098	Tall stature

Disease Causing ClinVar Variants